SMC2
MCID: SMT018
MIFTS: 34

Smith-Mccort Dysplasia 2 (SMC2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Smith-Mccort Dysplasia 2

MalaCards integrated aliases for Smith-Mccort Dysplasia 2:

Name: Smith-Mccort Dysplasia 2 57 72 29 13 6 70
Smc2 57 72
Dysplasia, Smith-Mccort, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
smith-mccort dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615222
OMIM Phenotypic Series 57 PS607326
MeSH 44 D010009
UMLS 70 C3714896

Summaries for Smith-Mccort Dysplasia 2

OMIM® : 57 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326). (615222) (Updated 20-May-2021)

MalaCards based summary : Smith-Mccort Dysplasia 2, also known as smc2, is related to cornelia de lange syndrome and pleural empyema. An important gene associated with Smith-Mccort Dysplasia 2 is RAB33B (RAB33B, Member RAS Oncogene Family). Affiliated tissues include smooth muscle, breast and skin, and related phenotypes are short neck and pectus carinatum

UniProtKB/Swiss-Prot : 72 Smith-McCort dysplasia 2: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.

Related Diseases for Smith-Mccort Dysplasia 2

Diseases in the Smith-Mccort Dysplasia 1 family:

Smith-Mccort Dysplasia 2

Diseases related to Smith-Mccort Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 6, show less)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 11.0
2 pleural empyema 10.9
3 progeroid syndrome 10.9
4 pancreatic cancer 9.9
5 neuroblastoma 9.9
6 argyria 9.9

Graphical network of the top 20 diseases related to Smith-Mccort Dysplasia 2:



Diseases related to Smith-Mccort Dysplasia 2

Symptoms & Phenotypes for Smith-Mccort Dysplasia 2

Human phenotypes related to Smith-Mccort Dysplasia 2:

31 (showing 18, show less)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 pectus carinatum 31 HP:0000768
3 pes planus 31 HP:0001763
4 genu valgum 31 HP:0002857
5 disproportionate short-trunk short stature 31 HP:0003521
6 platyspondyly 31 HP:0000926
7 decreased body weight 31 HP:0004325
8 short metacarpal 31 HP:0010049
9 hypoplasia of the odontoid process 31 HP:0003311
10 short phalanx of finger 31 HP:0009803
11 short metatarsal 31 HP:0010743
12 flattened epiphysis 31 HP:0003071
13 broad metatarsal 31 HP:0001783
14 flattened femoral head 31 HP:0008812
15 broad femoral neck 31 HP:0006429
16 metaphyseal irregularity 31 HP:0003025
17 barrel-shaped chest 31 HP:0001552
18 broad phalanx 31 HP:0006009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

Growth Height:
short stature

Skeletal Spine:
platyspondyly
exaggerated lordosis
posterior double humps of vertebral body
irregular surface of iliac spine
odontoid hypoplasia, mild

Skeletal Feet:
flat feet
short phalanges
broad phalanges
prominent heels
short metatarsal bones
more
Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Limbs:
genu valgum
flattened femoral heads
elevated shoulder joints
limited extension of elbow joints
broad femoral neck, mild
more
Chest External Features:
barrel-shaped chest
short trunk

Skeletal Hands:
short phalanges
broad phalanges
short metacarpal bones
broad metacarpal bones
broad interphalangeal joints

Clinical features from OMIM®:

615222 (Updated 20-May-2021)

Drugs & Therapeutics for Smith-Mccort Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Smith-Mccort Dysplasia 2

Genetic Tests for Smith-Mccort Dysplasia 2

Genetic tests related to Smith-Mccort Dysplasia 2:

# Genetic test Affiliating Genes
1 Smith-Mccort Dysplasia 2 29 RAB33B

Anatomical Context for Smith-Mccort Dysplasia 2

MalaCards organs/tissues related to Smith-Mccort Dysplasia 2:

40
Smooth Muscle, Breast, Skin, Prostate, Brain, Liver

Publications for Smith-Mccort Dysplasia 2

Articles related to Smith-Mccort Dysplasia 2:

(showing 122, show less)
# Title Authors PMID Year
1
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. 6 57
28127940 2017
2
A novel RAB33B mutation in Smith-McCort dysplasia. 57 6
23042644 2013
3
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. 57 6
22652534 2012
4
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. 6 57
16470731 2006
5
Long-term dynamic compression enhancement TGF-β3-induced chondrogenesis in bovine stem cells: a gene expression analysis. 61
33743603 2021
6
Genome-wide scan of long noncoding RNA single nucleotide polymorphisms and pancreatic cancer susceptibility. 61
33534179 2021
7
Prospective pathway signaling and prognostic values of MicroRNA-9 in ovarian cancer based on gene expression omnibus (GEO): a bioinformatics analysis. 61
33563317 2021
8
Prognostic relevance of SMC family gene expression in human sarcoma. 61
33460400 2020
9
Hyperosmotic stress: in situ chromatin phase separation. 61
31924112 2020
10
A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. 61
31917448 2020
11
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. 61
32907841 2020
12
Identification of novel biomarkers involved in pulmonary arterial hypertension based on multiple-microarray analysis. 61
32886110 2020
13
Integrative analyses of gene expression profile reveal potential crucial roles of mitotic cell cycle and microtubule cytoskeleton in pulmonary artery hypertension. 61
32586319 2020
14
The condensin subunits SMC2 and SMC4 interact for correct condensation and segregation of mitotic maize chromosomes. 61
31816133 2020
15
Structural maintenance of chromosomes 2 is identified as an oncogene in bladder cancer in vitro and in vivo. 61
31986889 2020
16
Plasmodium Condensin Core Subunits SMC2/SMC4 Mediate Atypical Mitosis and Are Essential for Parasite Proliferation and Transmission. 61
32049018 2020
17
Intracellular Delivery of Anti-SMC2 Antibodies against Cancer Stem Cells. 61
32098204 2020
18
The plasma peptides of sepsis. 61
32636717 2020
19
Screening and Identification of Therapeutic Targets for Pulmonary Arterial Hypertension Through Microarray Technology. 61
32849793 2020
20
Development of a novel six-long noncoding RNA signature predicting survival of patients with bladder urothelial carcinoma. 61
31338862 2019
21
Diminished Condensin Gene Expression Drives Chromosome Instability That May Contribute to Colorectal Cancer Pathogenesis. 61
31357676 2019
22
MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells. 61
31262291 2019
23
Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. 61
30794721 2019
24
Structural Basis of an Asymmetric Condensin ATPase Cycle. 61
31226277 2019
25
Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex. 61
30858338 2019
26
A specialized condensin complex participates in somatic nuclear maturation in Tetrahymena thermophila. 61
30893010 2019
27
Novel spiral mapping catheter facilitates observation of the time-to-pulmonary vein isolation during cryoballoon ablation. 61
30302548 2019
28
Quantitative Proteomics of the Mitotic Chromosome Scaffold Reveals the Association of BAZ1B with Chromosomal Axes. 61
30266865 2019
29
Quantitative Proteomics of the Mitotic Chromosome Scaffold Reveals the Association of BAZ1B with Chromosomal Axes. 61
33451429 2019
30
Cell cycle regulation of condensin Smc4. 61
30719224 2019
31
The proteomic study of serially passaged human skin fibroblast cells uncovers down-regulation of the chromosome condensin complex proteins involved in replicative senescence. 61
30336977 2018
32
Cdk phosphorylation licenses Kif4A chromosome localization required for early mitotic progression. 61
29771379 2018
33
Ki-67 and condensins support the integrity of mitotic chromosomes through distinct mechanisms. 61
29487178 2018
34
Human Papillomavirus E6 interaction with cellular PDZ domain proteins modulates YAP nuclear localization. 61
29346075 2018
35
Gene expression profiles in mouse cumulus cells derived from in vitro matured oocytes with and without blastocyst formation. 61
28583421 2017
36
The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization. 61
28367969 2017
37
Transcriptome analysis of neo-tetraploid rice reveals specific differential gene expressions associated with fertility and heterosis. 61
28071676 2017
38
Nesprin-2 Interacts with Condensin Component SMC2. 61
29445399 2017
39
Replication, checkpoint suppression and structure of centromeric DNA. 61
27893298 2016
40
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. 61
27432226 2016
41
Proteomics Analysis with a Nano Random Forest Approach Reveals Novel Functional Interactions Regulated by SMC Complexes on Mitotic Chromosomes. 61
27231315 2016
42
Centromeric DNA replication reconstitution reveals DNA loops and ATR checkpoint suppression. 61
27111843 2016
43
Alive SMC(2) : Bayesian model selection for low-count time series models with intractable likelihoods. 61
26584211 2016
44
Condensin Smc2-Smc4 Dimers Are Flexible and Dynamic. 61
26904946 2016
45
A genome landscape of SRSF3-regulated splicing events and gene expression in human osteosarcoma U2OS cells. 61
26704980 2016
46
Exposure to fluorescent light triggers down regulation of genes involved with mitotic progression in Xiphophorus skin. 61
26334372 2015
47
Quantitative Proteomics Reveals That the Inhibition of Na(+)/K(+)-ATPase Activity Affects S-Phase Progression Leading to a Chromosome Segregation Disorder by Attenuating the Aurora A Function in Hepatocellular Carcinoma Cells. 61
26491887 2015
48
Widespread Positive Selection Drives Differentiation of Centromeric Proteins in the Drosophila melanogaster subgroup. 61
26603658 2015
49
Three-dimensional topology of the SMC2/SMC4 subcomplex from chicken condensin I revealed by cross-linking and molecular modelling. 61
25716199 2015
50
Patients carrying 9q31.1-q32 deletion share common features with Cornelia de Lange Syndrome. 61
25591769 2015
51
Defective histone supply causes condensin-dependent chromatin alterations, SAC activation and chromosome decatenation impairment. 61
25300489 2014
52
Inhibition of Hec1 as a novel approach for treatment of primary liver cancer. 61
25038613 2014
53
Condensins are Required for Maintenance of Nuclear Architecture. 61
25153163 2014
54
Mutational and expressional analysis of SMC2 gene in gastric and colorectal cancers with microsatellite instability. 61
24483990 2014
55
Layer modulated smectic-C phase in liquid crystals with a terminal hydroxyl group. 61
24827265 2014
56
Intensity modulated radiotherapy induces pro-inflammatory and pro-survival responses in prostate cancer patients. 61
24435511 2014
57
Bovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3. 61
24667746 2014
58
Inactivation of SMC2 shows a synergistic lethal response in MYCN-amplified neuroblastoma cells. 61
24553121 2014
59
Dynamic localization of SMC5/6 complex proteins during mammalian meiosis and mitosis suggests functions in distinct chromosome processes. 61
23843628 2013
60
Ribosomal RNA gene transcription mediated by the master genome regulator protein CCCTC-binding factor (CTCF) is negatively regulated by the condensin complex. 61
23884423 2013
61
Role for rodent Smc6 in pericentromeric heterochromatin domains during spermatogonial differentiation and meiosis. 61
23907463 2013
62
Functional dissection of the Drosophila melanogaster condensin subunit Cap-G reveals its exclusive association with condensin I. 61
23637630 2013
63
Genome-wide association studies for growth and meat production traits in sheep. 61
23825544 2013
64
Role of helicase-like transcription factor (hltf) in the G2/m transition and apoptosis in brain. 61
23826137 2013
65
A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus. 61
23382837 2013
66
Human SMC2 protein, a core subunit of human condensin complex, is a novel transcriptional target of the WNT signaling pathway and a new therapeutic target. 61
23095742 2012
67
The Smc complexes in DNA damage response. 61
22369641 2012
68
Structure of metaphase chromosomes: a role for effects of macromolecular crowding. 61
22540018 2012
69
Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice. 61
23166514 2012
70
Opposing role of condensin hinge against replication protein A in mitosis and interphase through promoting DNA annealing. 61
22645654 2011
71
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. 61
21618603 2011
72
polo Is Identified as a Suppressor of bubR1 Nondisjunction in a Deficiency Screen of the Third Chromosome in Drosophila melanogaster. 61
22384328 2011
73
Disturbance in function and expression of condensin affects chromosome compaction in HeLa cells. 61
21395557 2011
74
Condensin phosphorylated by the Aurora-B-like kinase Ark1 is continuously required until telophase in a mode distinct from Top2. 61
21540296 2011
75
Positive supercoiling of mitotic DNA drives decatenation by topoisomerase II in eukaryotes. 61
21393545 2011
76
53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress. 61
21317883 2011
77
Structure and DNA-binding activity of the Pyrococcus furiosus SMC protein hinge domain. 61
21117236 2011
78
Breast cancer and the stromal factor. The "prometastatic healing process" hypothesis. 61
21296715 2011
79
Streptavidin-Binding Peptide (SBP)-tagged SMC2 allows single-step affinity fluorescence, blotting or purification of the condensin complex. 61
21194474 2010
80
Cloning, expression, crystallization and preliminary X-ray crystallographic analysis of a human condensin SMC2 hinge domain with short coiled coils. 61
20823528 2010
81
Structure and DNA binding activity of the mouse condensin hinge domain highlight common and diverse features of SMC proteins. 61
20139420 2010
82
Condensin complexes regulate mitotic progression and interphase chromatin structure in embryonic stem cells. 61
20176923 2010
83
Detection of condensin I and II in maturing pig oocytes. 61
20353724 2010
84
Expression of cohesin and condensin genes during zebrafish development supports a non-proliferative role for cohesin. 61
19723591 2009
85
SMC5 and MMS21 are required for chromosome cohesion and mitotic progression. 61
19502785 2009
86
Identification of cellular proteins that interact with the adeno-associated virus rep protein. 61
18971280 2009
87
The coiled coils of cohesin are conserved in animals, but not in yeast. 61
19262687 2009
88
Molecular and genetic analysis of condensin function in vertebrate cells. 61
18480406 2008
89
Reconstitution and subunit geometry of human condensin complexes. 61
17268547 2007
90
Smc5/6 is required for repair at collapsed replication forks. 61
17030601 2006
91
Condensin and Repo-Man-PP1 co-operate in the regulation of chromosome architecture during mitosis. 61
16998479 2006
92
Sequence divergence of coiled coils--structural rods, myosin filament packing, and the extraordinary conservation of cohesins. 61
16495084 2006
93
The Saccharomyces cerevisiae Smc2/4 condensin compacts DNA into (+) chiral structures without net supercoiling. 61
16100111 2005
94
Dynamic molecular linkers of the genome: the first decade of SMC proteins. 61
15937217 2005
95
Drosophila CAP-D2 is required for condensin complex stability and resolution of sister chromatids. 61
15923665 2005
96
HCP-4/CENP-C promotes the prophase timing of centromere resolution by enabling the centromere association of HCP-6 in Caenorhabditis elegans. 61
15767665 2005
97
Rad62 protein functionally and physically associates with the smc5/smc6 protein complex and is required for chromosome integrity and recombination repair in fission yeast. 61
15485909 2004
98
Nse1, Nse2, and a novel subunit of the Smc5-Smc6 complex, Nse3, play a crucial role in meiosis. 61
15331764 2004
99
Visualization of early chromosome condensation: a hierarchical folding, axial glue model of chromosome structure. 61
15353545 2004
100
Cell cycle-dependent phosphorylation, nuclear localization, and activation of human condensin. 61
14607834 2004
101
SMC1 coordinates DNA double-strand break repair pathways. 61
15280507 2004
102
Identification of a subunit of a novel Kleisin-beta/SMC complex as a potential substrate of protein phosphatase 2A. 61
14653995 2003
103
Novel essential DNA repair proteins Nse1 and Nse2 are subunits of the fission yeast Smc5-Smc6 complex. 61
12966087 2003
104
Condensin is required for nonhistone protein assembly and structural integrity of vertebrate mitotic chromosomes. 61
12919682 2003
105
Mutations in Arabidopsis condensin genes disrupt embryogenesis, meristem organization and segregation of homologous chromosomes during meiosis. 61
12783798 2003
106
Biochemical analysis of the yeast condensin Smc2/4 complex: an ATPase that promotes knotting of circular DNA. 61
12719426 2003
107
Hinge-mediated dimerization of SMC protein is essential for its dynamic interaction with DNA. 61
12411491 2002
108
Identification of a novel non-structural maintenance of chromosomes (SMC) component of the SMC5-SMC6 complex involved in DNA repair. 61
11927594 2002
109
Condensin and cohesin knockouts in Arabidopsis exhibit a titan seed phenotype. 61
11846874 2002
110
Saccharomyces cerevisiae SMT4 encodes an evolutionarily conserved protease with a role in chromosome condensation regulation. 61
11333221 2001
111
The cohesin complex: sequence homologies, interaction networks and shared motifs. 61
11276426 2001
112
The condensin complex governs chromosome condensation and mitotic transmission of rDNA. 61
10811823 2000
113
Chromosome condensation factor Brn1p is required for chromatid separation in mitosis. 61
10749931 2000
114
Association of mammalian SMC1 and SMC3 proteins with meiotic chromosomes and synaptonemal complexes. 61
10652260 2000
115
Fission yeast condensin complex: essential roles of non-SMC subunits for condensation and Cdc2 phosphorylation of Cut3/SMC4. 61
10485849 1999
116
Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins. 61
10409732 1999
117
Structural maintenance of chromosomes (SMC) proteins: conserved molecular properties for multiple biological functions. 61
10429180 1999
118
Cloning and characterization of mammalian SMC1 and SMC3 genes and proteins, components of the DNA recombination complexes RC-1. 61
10072753 1999
119
Structural maintenance of chromosomes protein C-terminal domains bind preferentially to DNA with secondary structure. 61
9727028 1998
120
HEC binds to the seventh regulatory subunit of the 26 S proteasome and modulates the proteolysis of mitotic cyclins. 61
9295362 1997
121
Fifteen open reading frames in a 30.8 kb region of the right arm of chromosome VI from Saccharomyces cerevisiae. 61
8686381 1996
122
SMC2, a Saccharomyces cerevisiae gene essential for chromosome segregation and condensation, defines a subgroup within the SMC family. 61
7698648 1995

Variations for Smith-Mccort Dysplasia 2

ClinVar genetic disease variations for Smith-Mccort Dysplasia 2:

6 (showing 74, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB33B NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) SNV Pathogenic 50230 rs587776958 GRCh37: 4:140375485-140375485
GRCh38: 4:139454331-139454331
2 RAB33B NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) SNV Pathogenic 50231 rs886044716 GRCh37: 4:140394034-140394034
GRCh38: 4:139472880-139472880
3 RAB33B NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) SNV Pathogenic 425561 rs1085307129 GRCh37: 4:140393955-140393955
GRCh38: 4:139472801-139472801
4 RAB33B NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) Deletion Pathogenic 425562 rs1085307130 GRCh37: 4:140375394-140375401
GRCh38: 4:139454240-139454247
5 RAB33B NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) SNV Pathogenic 425560 rs1085307128 GRCh37: 4:140375560-140375560
GRCh38: 4:139454406-139454406
6 RAB33B NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) SNV Pathogenic 425563 rs1085307131 GRCh37: 4:140394080-140394080
GRCh38: 4:139472926-139472926
7 RAB33B NM_031296.3(RAB33B):c.391G>T (p.Glu131Ter) SNV Pathogenic 998389 GRCh37: 4:140393981-140393981
GRCh38: 4:139472827-139472827
8 RAB33B NM_031296.3(RAB33B):c.633del (p.Asp212fs) Deletion Pathogenic 1032923 GRCh37: 4:140394223-140394223
GRCh38: 4:139473069-139473069
9 RAB33B NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) SNV Pathogenic 1048093 GRCh37: 4:140393990-140393990
GRCh38: 4:139472836-139472836
10 RAB33B NM_031296.3(RAB33B):c.186del (p.Glu63fs) Deletion Pathogenic/Likely pathogenic 599277 rs1561002040 GRCh37: 4:140375534-140375534
GRCh38: 4:139454380-139454380
11 RAB33B NM_031296.3(RAB33B):c.*425T>C SNV Uncertain significance 900305 GRCh37: 4:140394705-140394705
GRCh38: 4:139473551-139473551
12 RAB33B NM_031296.3(RAB33B):c.*2355T>A SNV Uncertain significance 900363 GRCh37: 4:140396635-140396635
GRCh38: 4:139475481-139475481
13 RAB33B NM_031296.3(RAB33B):c.*2359T>A SNV Uncertain significance 900364 GRCh37: 4:140396639-140396639
GRCh38: 4:139475485-139475485
14 RAB33B NM_031296.3(RAB33B):c.*2391C>T SNV Uncertain significance 900365 GRCh37: 4:140396671-140396671
GRCh38: 4:139475517-139475517
15 RAB33B NM_031296.3(RAB33B):c.*2522A>C SNV Uncertain significance 900366 GRCh37: 4:140396802-140396802
GRCh38: 4:139475648-139475648
16 RAB33B NM_031296.3(RAB33B):c.201G>A (p.Gly67=) SNV Uncertain significance 901355 GRCh37: 4:140375550-140375550
GRCh38: 4:139454396-139454396
17 RAB33B NM_031296.3(RAB33B):c.*780T>C SNV Uncertain significance 901409 GRCh37: 4:140395060-140395060
GRCh38: 4:139473906-139473906
18 RAB33B NM_031296.3(RAB33B):c.*924G>A SNV Uncertain significance 901410 GRCh37: 4:140395204-140395204
GRCh38: 4:139474050-139474050
19 RAB33B NM_031296.3(RAB33B):c.*1157T>G SNV Uncertain significance 901411 GRCh37: 4:140395437-140395437
GRCh38: 4:139474283-139474283
20 RAB33B NM_031296.3(RAB33B):c.*2327G>A SNV Uncertain significance 347591 rs755193519 GRCh37: 4:140396607-140396607
GRCh38: 4:139475453-139475453
21 RAB33B NM_031296.3(RAB33B):c.*2754C>G SNV Uncertain significance 901473 GRCh37: 4:140397034-140397034
GRCh38: 4:139475880-139475880
22 RAB33B NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) SNV Uncertain significance 901955 GRCh37: 4:140394120-140394120
GRCh38: 4:139472966-139472966
23 RAB33B NM_031296.3(RAB33B):c.600G>A (p.Lys200=) SNV Uncertain significance 901956 GRCh37: 4:140394190-140394190
GRCh38: 4:139473036-139473036
24 RAB33B NM_031296.3(RAB33B):c.*1235G>A SNV Uncertain significance 902031 GRCh37: 4:140395515-140395515
GRCh38: 4:139474361-139474361
25 RAB33B NM_031296.3(RAB33B):c.*1322C>G SNV Uncertain significance 902032 GRCh37: 4:140395602-140395602
GRCh38: 4:139474448-139474448
26 RAB33B NM_031296.3(RAB33B):c.*1455A>G SNV Uncertain significance 902033 GRCh37: 4:140395735-140395735
GRCh38: 4:139474581-139474581
27 RAB33B NM_031296.3(RAB33B):c.613T>C (p.Leu205=) SNV Uncertain significance 902855 GRCh37: 4:140394203-140394203
GRCh38: 4:139473049-139473049
28 RAB33B NM_031296.3(RAB33B):c.678G>A (p.Thr226=) SNV Uncertain significance 902856 GRCh37: 4:140394268-140394268
GRCh38: 4:139473114-139473114
29 RAB33B NM_031296.3(RAB33B):c.*1A>G SNV Uncertain significance 902857 GRCh37: 4:140394281-140394281
GRCh38: 4:139473127-139473127
30 RAB33B NM_031296.3(RAB33B):c.*146T>A SNV Uncertain significance 902858 GRCh37: 4:140394426-140394426
GRCh38: 4:139473272-139473272
31 RAB33B NM_031296.3(RAB33B):c.*161C>T SNV Uncertain significance 902859 GRCh37: 4:140394441-140394441
GRCh38: 4:139473287-139473287
32 RAB33B NM_031296.3(RAB33B):c.*1925A>G SNV Uncertain significance 902918 GRCh37: 4:140396205-140396205
GRCh38: 4:139475051-139475051
33 RAB33B NM_031296.3(RAB33B):c.*1949A>C SNV Uncertain significance 902919 GRCh37: 4:140396229-140396229
GRCh38: 4:139475075-139475075
34 RAB33B NM_031296.3(RAB33B):c.*2130G>A SNV Uncertain significance 902920 GRCh37: 4:140396410-140396410
GRCh38: 4:139475256-139475256
35 RAB33B NM_031296.3(RAB33B):c.*2271A>C SNV Uncertain significance 902921 GRCh37: 4:140396551-140396551
GRCh38: 4:139475397-139475397
36 RAB33B NM_031296.3(RAB33B):c.249+10T>C SNV Uncertain significance 347563 rs747305009 GRCh37: 4:140375608-140375608
GRCh38: 4:139454454-139454454
37 RAB33B NM_031296.3(RAB33B):c.*701G>T SNV Uncertain significance 347577 rs187434569 GRCh37: 4:140394981-140394981
GRCh38: 4:139473827-139473827
38 RAB33B NM_031296.3(RAB33B):c.*1310G>A SNV Uncertain significance 347583 rs886059082 GRCh37: 4:140395590-140395590
GRCh38: 4:139474436-139474436
39 RAB33B NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) SNV Uncertain significance 347561 rs371561776 GRCh37: 4:140375477-140375477
GRCh38: 4:139454323-139454323
40 RAB33B NM_031296.3(RAB33B):c.432T>C (p.Ile144=) SNV Uncertain significance 347566 rs769999843 GRCh37: 4:140394022-140394022
GRCh38: 4:139472868-139472868
41 RAB33B NM_031296.3(RAB33B):c.*1819A>G SNV Uncertain significance 347586 rs557693738 GRCh37: 4:140396099-140396099
GRCh38: 4:139474945-139474945
42 RAB33B NM_031296.3(RAB33B):c.*118T>G SNV Uncertain significance 347569 rs886059077 GRCh37: 4:140394398-140394398
GRCh38: 4:139473244-139473244
43 RAB33B NM_031296.3(RAB33B):c.*494A>C SNV Uncertain significance 347572 rs886059079 GRCh37: 4:140394774-140394774
GRCh38: 4:139473620-139473620
44 RAB33B NM_031296.3(RAB33B):c.*764G>A SNV Uncertain significance 347578 rs886059081 GRCh37: 4:140395044-140395044
GRCh38: 4:139473890-139473890
45 RAB33B NM_031296.3(RAB33B):c.*2599A>G SNV Uncertain significance 347592 rs886059085 GRCh37: 4:140396879-140396879
GRCh38: 4:139475725-139475725
46 RAB33B NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) SNV Uncertain significance 347567 rs747031994 GRCh37: 4:140394143-140394143
GRCh38: 4:139472989-139472989
47 RAB33B NM_031296.3(RAB33B):c.*219A>G SNV Uncertain significance 347570 rs886059078 GRCh37: 4:140394499-140394499
GRCh38: 4:139473345-139473345
48 RAB33B NM_031296.3(RAB33B):c.-48C>T SNV Uncertain significance 347559 rs748718122 GRCh37: 4:140375302-140375302
GRCh38: 4:139454148-139454148
49 RAB33B NM_031296.3(RAB33B):c.*632A>G SNV Uncertain significance 347576 rs886059080 GRCh37: 4:140394912-140394912
GRCh38: 4:139473758-139473758
50 RAB33B NM_031296.3(RAB33B):c.*776C>T SNV Uncertain significance 347579 rs77490600 GRCh37: 4:140395056-140395056
GRCh38: 4:139473902-139473902
51 RAB33B NM_031296.3(RAB33B):c.*1994T>A SNV Uncertain significance 347588 rs886059084 GRCh37: 4:140396274-140396274
GRCh38: 4:139475120-139475120
52 RAB33B NM_031296.3(RAB33B):c.135C>G (p.Gly45=) SNV Uncertain significance 347562 rs138534367 GRCh37: 4:140375484-140375484
GRCh38: 4:139454330-139454330
53 RAB33B NM_031296.3(RAB33B):c.336C>T (p.Phe112=) SNV Uncertain significance 347564 rs142541603 GRCh37: 4:140393926-140393926
GRCh38: 4:139472772-139472772
54 RAB33B NM_031296.3(RAB33B):c.*2132T>G SNV Uncertain significance 347590 rs575262316 GRCh37: 4:140396412-140396412
GRCh38: 4:139475258-139475258
55 RAB33B NM_031296.3(RAB33B):c.*1976A>G SNV Uncertain significance 347587 rs886059083 GRCh37: 4:140396256-140396256
GRCh38: 4:139475102-139475102
56 RAB33B NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) SNV Uncertain significance 347565 rs200448316 GRCh37: 4:140394007-140394007
GRCh38: 4:139472853-139472853
57 RAB33B NM_031296.3(RAB33B):c.*1751G>T SNV Likely benign 347585 rs114169513 GRCh37: 4:140396031-140396031
GRCh38: 4:139474877-139474877
58 RAB33B NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) SNV Likely benign 347568 rs139823051 GRCh37: 4:140394267-140394267
GRCh38: 4:139473113-139473113
59 RAB33B NM_031296.3(RAB33B):c.*543C>T SNV Likely benign 347573 rs79952078 GRCh37: 4:140394823-140394823
GRCh38: 4:139473669-139473669
60 RAB33B NM_031296.3(RAB33B):c.*1403C>A SNV Likely benign 347584 rs75661332 GRCh37: 4:140395683-140395683
GRCh38: 4:139474529-139474529
61 RAB33B NM_031296.3(RAB33B):c.*595G>A SNV Likely benign 347575 rs13137997 GRCh37: 4:140394875-140394875
GRCh38: 4:139473721-139473721
62 RAB33B NM_031296.3(RAB33B):c.*2026G>A SNV Likely benign 347589 rs144602972 GRCh37: 4:140396306-140396306
GRCh38: 4:139475152-139475152
63 RAB33B NM_031296.3(RAB33B):c.*254A>G SNV Likely benign 347571 rs78192594 GRCh37: 4:140394534-140394534
GRCh38: 4:139473380-139473380
64 RAB33B NM_031296.3(RAB33B):c.*590T>C SNV Likely benign 347574 rs78607198 GRCh37: 4:140394870-140394870
GRCh38: 4:139473716-139473716
65 RAB33B NM_031296.3(RAB33B):c.*2722T>G SNV Likely benign 901472 GRCh37: 4:140397002-140397002
GRCh38: 4:139475848-139475848
66 RAB33B NM_031296.3(RAB33B):c.*2548T>G SNV Likely benign 900367 GRCh37: 4:140396828-140396828
GRCh38: 4:139475674-139475674
67 RAB33B NM_031296.3(RAB33B):c.*513C>T SNV Likely benign 900306 GRCh37: 4:140394793-140394793
GRCh38: 4:139473639-139473639
68 RAB33B NM_031296.3(RAB33B):c.*576T>C SNV Likely benign 900307 GRCh37: 4:140394856-140394856
GRCh38: 4:139473702-139473702
69 RAB33B NM_031296.3(RAB33B):c.258A>G (p.Leu86=) SNV Benign 747193 rs189262252 GRCh37: 4:140393848-140393848
GRCh38: 4:139472694-139472694
70 RAB33B NM_031296.3(RAB33B):c.*1077G>A SNV Benign 347581 rs115582784 GRCh37: 4:140395357-140395357
GRCh38: 4:139474203-139474203
71 RAB33B NM_031296.3(RAB33B):c.-36C>T SNV Benign 347560 rs182647425 GRCh37: 4:140375314-140375314
GRCh38: 4:139454160-139454160
72 RAB33B NM_031296.3(RAB33B):c.-54C>G SNV Benign 347558 rs13128486 GRCh37: 4:140375296-140375296
GRCh38: 4:139454142-139454142
73 RAB33B NM_031296.3(RAB33B):c.*2651C>A SNV Benign 347593 rs3088313 GRCh37: 4:140396931-140396931
GRCh38: 4:139475777-139475777
74 RAB33B NM_031296.3(RAB33B):c.*1303C>T SNV Benign 347582 rs4074940 GRCh37: 4:140395583-140395583
GRCh38: 4:139474429-139474429

UniProtKB/Swiss-Prot genetic disease variations for Smith-Mccort Dysplasia 2:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 RAB33B p.Lys46Gln VAR_068854 rs587776958
2 RAB33B p.Asn148Lys VAR_068855 rs886044716

Expression for Smith-Mccort Dysplasia 2

Search GEO for disease gene expression data for Smith-Mccort Dysplasia 2.

Pathways for Smith-Mccort Dysplasia 2

GO Terms for Smith-Mccort Dysplasia 2

Sources for Smith-Mccort Dysplasia 2

3 CDC
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