FANCD2
MCID: FNC042
MIFTS: 54

Fanconi Anemia, Complementation Group D2 (FANCD2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group D2

MalaCards integrated aliases for Fanconi Anemia, Complementation Group D2:

Name: Fanconi Anemia, Complementation Group D2 56 29 13 6 39 71
Fanconi Anemia Complementation Group D2 12 73 15
Fancd2 56 12 73
Fad2 56 12 73
Fa4 56 12 73
Fanconi Pancytopenia Type 4 12 73
Fancd 56 73
Fanconi Anemia, Complementation Group D; Fancd; Facd 56
Fanconi Anemia, Complementation Group D 56
Fanconi Anemia Complementation Group D 73
Fanconi Pancytopenia, Type 4; Fa4 56
Fanconi Pancytopenia, Type 4 56
Facd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group d2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group D2

OMIM : 56 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (227646)

MalaCards based summary : Fanconi Anemia, Complementation Group D2, also known as fanconi anemia complementation group d2, is related to fanconi anemia, complementation group e and sporadic breast cancer, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group D2 is FANCD2 (FA Complementation Group D2), and among its related pathways/superpathways are DNA Damage and triacylglycerol biosynthesis. The drugs Talazoparib and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group D2: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group D2

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group D2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group e 33.3 FANCD2 FANCA
2 sporadic breast cancer 32.7 RAD51 FANCD2 BRCA2
3 fanconi anemia, complementation group i 32.6 H2AC18 FANCD2
4 fanconi anemia, complementation group v 32.5 FANCD2 FANCA
5 fanconi anemia, complementation group t 32.1 H2AC18 FANCD2 FANCA
6 fanconi anemia, complementation group p 32.1 H2AC18 FANCD2 FANCA
7 fanconi anemia, complementation group u 32.0 FANCD2 FANCA
8 fanconi anemia, complementation group n 31.9 H2AC18 FANCD2 FANCA BRCA2
9 fanconi anemia, complementation group o 31.9 FANCD2 FANCA
10 fanconi anemia, complementation group r 31.9 RAD51 FANCD2 FANCA
11 fanconi anemia, complementation group j 31.7 RAD51 H2AC18 FANCD2 FANCA BRCA2
12 seckel syndrome 31.6 RAD51 H2AC18 FANCD2 FANCA BRCA2
13 fanconi anemia, complementation group f 31.6 H2AC18 FANCD2 FANCA BRCA2
14 fanconi anemia, complementation group q 31.6 FANCD2 FANCA
15 xeroderma pigmentosum, variant type 31.3 RAD51 H2AC18 FANCD2 FANCA BRCA2
16 aplastic anemia 31.1 IL3 H2AC18 FANCD2 FANCA BRCA2
17 congenital hypoplastic anemia 30.9 RAD51 IL3 H2AC18 FANCD2 FANCA BRCA2
18 bloom syndrome 30.3 RAD51 FANCA BRCA2
19 fanconi anemia, complementation group d1 30.1 RAD51 H2AC18 FANCD2 FANCA BRCA2
20 deficiency anemia 30.1 IL3 H2AC18 FANCD2 FANCA
21 leukemia, acute myeloid 29.3 RAD51 IL3 H2AC18 FANCA BRCA2
22 fanconi anemia, complementation group a 28.4 SCD RAD51 MBOAT2 LOC107303338 IL3 H2AC18
23 breast cancer 11.7
24 fanconi anemia, complementation group b 11.5
25 nijmegen breakage syndrome 11.5
26 myelodysplastic syndrome 11.5
27 fanconi anemia, complementation group l 11.5
28 fanconi anemia, complementation group c 11.4
29 squamous cell carcinoma, head and neck 11.2
30 esophageal atresia 11.2
31 xeroderma pigmentosum, complementation group f 11.0
32 interstitial nephritis, karyomegalic 11.0
33 orbit embryonal rhabdomyosarcoma 11.0
34 esophageal atresia/tracheoesophageal fistula 10.3 FANCA BRCA2
35 anoxia 10.3
36 benign idiopathic neonatal seizures 10.3
37 ataxia-telangiectasia 10.2
38 allergic hypersensitivity disease 10.2
39 telangiectasis 10.2
40 autosomal recessive disease 10.2
41 microphthalmia 10.2
42 adenocarcinoma 10.2
43 ataxia and polyneuropathy, adult-onset 10.2
44 pancytopenia 10.2
45 von hippel-lindau syndrome 10.1 LOC107303341 LOC107303340 LOC107303339 LOC107303338 LOC107303337
46 hepatocellular carcinoma 10.1
47 multiple endocrine neoplasia, type i 10.1
48 lung cancer 10.1
49 myeloma, multiple 10.1
50 lymphocytic leukemia 10.1

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group D2:



Diseases related to Fanconi Anemia, Complementation Group D2

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D2

Human phenotypes related to Fanconi Anemia, Complementation Group D2:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 short stature 31 HP:0004322
4 cryptorchidism 31 HP:0000028
5 horseshoe kidney 31 HP:0000085
6 cafe-au-lait spot 31 HP:0000957
7 microcephaly 31 HP:0000252
8 anemia 31 HP:0001903
9 pancytopenia 31 HP:0001876
10 ectopic kidney 31 HP:0000086
11 strabismus 31 HP:0000486
12 abnormality of skin pigmentation 31 HP:0001000
13 thrombocytopenia 31 HP:0001873
14 microphthalmia 31 HP:0000568
15 hypergonadotropic hypogonadism 31 HP:0000815
16 neutropenia 31 HP:0001875
17 leukemia 31 HP:0001909
18 abnormal heart morphology 31 HP:0001627
19 bruising susceptibility 31 HP:0000978
20 short thumb 31 HP:0009778
21 complete duplication of thumb phalanx 31 HP:0009943
22 abnormality of cardiovascular system morphology 31 HP:0030680
23 renal agenesis 31 HP:0000104
24 absent radius 31 HP:0003974
25 small for gestational age 31 HP:0001518
26 absent thumb 31 HP:0009777
27 duplicated collecting system 31 HP:0000081
28 anemic pallor 31 HP:0001017
29 reticulocytopenia 31 HP:0001896
30 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
31 prolonged g2 phase of cell cycle 31 HP:0003214
32 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
cryptorchidism
hypergonadotropic hypogonadism

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Cardiovascular Heart:
congenital heart defect

Neurologic Central Nervous System:
mental retardation

Growth Weight:
low birth weight

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
reticulocytopenia
more
Neoplasia:
leukemia

Laboratory Abnormalities:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Head And Neck Ears:
deafness
ear anomaly

Skeletal Hands:
radial aplasia
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Growth Height:
small stature

Clinical features from OMIM:

227646

UMLS symptoms related to Fanconi Anemia, Complementation Group D2:


anemic pallor

Drugs & Therapeutics for Fanconi Anemia, Complementation Group D2

Drugs for Fanconi Anemia, Complementation Group D2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
2
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
3 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
4 topoisomerase I inhibitors Phase 2
5 Topoisomerase Inhibitors Phase 2
6
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
7
Cisplatin Approved Phase 1 15663-27-1 84093 441203 2767
8
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
9
Belinostat Approved, Investigational Phase 1 866323-14-0
10
Alovudine Investigational Phase 1 25526-93-6
11
Veliparib Investigational Phase 1 912444-00-9 11960529
12 Pevonedistat Investigational Phase 1 905579-51-3
13 Anti-Infective Agents Phase 1
14 Antiviral Agents Phase 1
15 Albumin-Bound Paclitaxel Phase 1
16 Antimitotic Agents Phase 1
17 Histone Deacetylase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
2 A Phase 2 Single-Arm Study of M6620 in Combination With Irinotecan in Patients With Progressive TP53 Mutant Gastric and Gastro-Esophageal Junction Cancer Not yet recruiting NCT03641313 Phase 2 ATR Kinase Inhibitor M6620;Irinotecan
3 A Phase 1 Dose-Escalation Study of ABT-888 (Veliparib) in Combination With Carboplatin in HER2 Negative Metastatic Breast Cancer Completed NCT01251874 Phase 1 Carboplatin;Veliparib
4 A Limited Access Phase I Trial of Paclitaxel, Cisplatin and CTEP Supplied Agent ABT-888 (Veliparib) (NSC#737664) in the Treatment of Advanced, Persistent, or Recurrent Carcinoma of the Cervix Completed NCT01281852 Phase 1 Cisplatin;Paclitaxel;Veliparib
5 A Phase 1 Study of MLN4924 (Pevonedistat) and Belinostat in Relapsed/Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome Recruiting NCT03772925 Phase 1 Belinostat;Pevonedistat
6 Identification of de Novo Fanconi Anemia Patients Using FANCD2 Western Blots Completed NCT01146210
7 Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA) Completed NCT01565005
8 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667

Search NIH Clinical Center for Fanconi Anemia, Complementation Group D2

Genetic Tests for Fanconi Anemia, Complementation Group D2

Genetic tests related to Fanconi Anemia, Complementation Group D2:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group D2 29 FANCD2

Anatomical Context for Fanconi Anemia, Complementation Group D2

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group D2:

40
Bone, Bone Marrow, Breast, Lung, Kidney, Myeloid, Heart

Publications for Fanconi Anemia, Complementation Group D2

Articles related to Fanconi Anemia, Complementation Group D2:

(show top 50) (show all 827)
# Title Authors PMID Year
1
Positional cloning of a novel Fanconi anemia gene, FANCD2. 61 56 6
11239453 2001
2
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 61 56
17436244 2007
3
Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining. 61 56
16135554 2005
4
Knockdown of zebrafish Fancd2 causes developmental abnormalities via p53-dependent apoptosis. 61 56
14667412 2003
5
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. 61 56
12893777 2003
6
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
7
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
8
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
9
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
10
A DNA double strand break repair defect in Fanconi anemia fibroblasts. 56
12361951 2002
11
Fanconi Anemia 6
20301575 2002
12
SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability. 61
31867888 2020
13
Genetic and histologic spatiotemporal evolution of recurrent, multifocal, multicentric and metastatic glioblastoma. 61
32014051 2020
14
RAD6B is a major mediator of triple negative breast cancer cisplatin resistance: Regulation of translesion synthesis/Fanconi anemia crosstalk and BRCA1 independence. 61
31639439 2020
15
Cooperation of the NEIL3 and Fanconi anemia/BRCA pathways in interstrand crosslink repair. 61
31980815 2020
16
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex. 61
32002546 2020
17
In vivo analysis of FANCD2 recruitment at meiotic DNA breaks in Caenorhabditis elegans. 61
31919410 2020
18
Fanconi Anemia Mouse Genotype-specific Mitigation of Total Body Irradiation by GS-Nitroxide JP4-039. 61
31882460 2020
19
MLH1-mediated recruitment of FAN1 to chromatin for the induction of apoptosis triggered by O6 -methylguanine. 61
31955481 2020
20
Celastrol-induced degradation of FANCD2 sensitizes pediatric high-grade gliomas to the DNA-crosslinking agent carboplatin. 61
31735550 2019
21
Allosteric mechanism for site-specific ubiquitination of FANCD2. 61
31873223 2019
22
Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms. 61
30942098 2019
23
Rare variants in FANCA induce premature ovarian insufficiency. 61
31535215 2019
24
FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops. 61
31836759 2019
25
CRL4 ubiquitin ligase stimulates Fanconi anemia pathway-induced single-stranded DNA-RPA signaling. 61
31690264 2019
26
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019
27
Fanconi anemia proteins counteract the implementation of the oncogene-induced senescence program. 61
31745226 2019
28
MTDH/AEG-1 downregulation using pristimerin-loaded nanoparticles inhibits Fanconi anemia proteins and increases sensitivity to platinum-based chemotherapy. 61
31477281 2019
29
Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway. 61
31525021 2019
30
Sex-specific hepatic lipid and bile acid metabolism alterations in Fancd2-deficient mice following dietary challenge. 61
31434739 2019
31
Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation. 61
31472450 2019
32
Nuclear receptors regulate alternative lengthening of telomeres through a novel noncanonical FANCD2 pathway. 61
31633027 2019
33
Functional crosstalk between the Fanconi anemia and ATRX/DAXX histone chaperone pathways promotes replication fork recovery. 61
31628488 2019
34
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. 61
31586946 2019
35
Proteomic characterization of chromosomal common fragile site (CFS)-associated proteins uncovers ATRX as a regulator of CFS stability. 61
31180492 2019
36
Genotype-phenotype associations in Fanconi anemia: A literature review. 61
31351673 2019
37
Inhibition of SKP2 Activity Impaired ATM-Mediated DNA Repair and Enhanced Sensitivity of Cisplatin-Resistant Mantle Cell Lymphoma Cells. 61
31025879 2019
38
Chronic iron exposure and c-Myc/H-ras-mediated transformation in fallopian tube cells alter the expression of EVI1, amplified at 3q26.2 in ovarian cancer. 61
31434871 2019
39
Increased Non-Homologous End Joining Makes DNA-PK a Promising Target for Therapeutic Intervention in Uveal Melanoma. 61
31480356 2019
40
FANCD2 Binding to H4K20me2 via a Methyl-Binding Domain Is Essential for Efficient DNA Cross-Link Repair. 61
31085681 2019
41
ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2. 61
31392348 2019
42
A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2. 61
31219578 2019
43
Mitotic DNA Synthesis Is Differentially Regulated between Cancer and Noncancerous Cells. 61
31113828 2019
44
Microarray gene profiling analysis of glioblastoma cell line U87 reveals suppression of the FANCD2/Fanconi anemia pathway by the combination of Y15 and temozolomide. 61
31360198 2019
45
Chlorambucil targets BRCA1/2-deficient tumours and counteracts PARP inhibitor resistance. 61
31273933 2019
46
Dicer prevents genome instability in response to replication stress. 61
31320994 2019
47
DNA requirement in FANCD2 deubiquitination by USP1-UAF1-RAD51AP1 in the Fanconi anemia DNA damage response. 61
31253762 2019
48
Phosphorylation of FANCD2 Inhibits the FANCD2/FANCI Complex and Suppresses the Fanconi Anemia Pathway in the Absence of DNA Damage. 61
31167143 2019
49
Severe Fanconi Anemia phenotypes in Fancd2 depletion mice. 61
31078270 2019
50
The BRUCE-ATR Signaling Axis Is Required for Accurate DNA Replication and Suppression of Liver Cancer Development. 61
30693543 2019

Variations for Fanconi Anemia, Complementation Group D2

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group D2:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCD2 NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter)SNV Pathogenic 12041 rs121917788 3:10084803-10084803 3:10043119-10043119
2 FANCD2 FANCD2, EX17 DELdeletion Pathogenic 12042
3 FANCD2 NM_173472.2(FANCD2OS):c.44-8784C>TSNV Pathogenic 12038 rs121917786 3:10131999-10131999 3:10090315-10090315
4 FANCD2 FANCD2, 376A-Ginsertion Pathogenic 12039
5 FANCD2 NM_033084.5(FANCD2):c.1201del (p.Arg401fs)deletion Pathogenic 435148 rs1553608812 3:10088330-10088330 3:10046646-10046646
6 FANCD2 NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp)SNV Pathogenic/Likely pathogenic 12040 rs121917787 3:10084749-10084749 3:10043065-10043065
7 FANCD2 NM_033084.5(FANCD2):c.2094_2096CCT[1] (p.Leu700del)short repeat Likely pathogenic 224709 rs869312805 3:10106485-10106487 3:10064801-10064803
8 FANCD2 NM_033084.6(FANCD2):c.3095del (p.Asn1032fs)deletion Likely pathogenic 623166 rs1559399574 3:10122901-10122901 3:10081217-10081217
9 FANCD2 NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro)SNV Uncertain significance 575540 rs150075366 3:10070369-10070369 3:10028685-10028685
10 FANCD2 NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val)SNV Uncertain significance 456344 rs145129959 3:10089670-10089670 3:10047986-10047986
11 FANCD2 NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu)SNV Uncertain significance 407784 rs61751578 3:10116301-10116301 3:10074617-10074617
12 FANCD2 NM_033084.5(FANCD2):c.310A>G (p.Ile104Val)SNV Uncertain significance 407781 rs774299094 3:10076415-10076415 3:10034731-10034731
13 FANCD2 NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser)SNV Uncertain significance 134313 rs147523071 3:10103845-10103845 3:10062161-10062161
14 FANCD2 NM_033084.5(FANCD2):c.1401G>A (p.Thr467=)SNV Benign 342267 rs12330369 3:10089723-10089723 3:10048039-10048039
15 FANCD2 NM_033084.5(FANCD2):c.1278+3_1278+5deldeletion Benign 518343 rs375350046 3:10088410-10088412 3:10046726-10046728
16 FANCD2 NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=)SNV Benign 439693 rs764447374 3:10088404-10088404 3:10046720-10046720

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group D2:

73
# Symbol AA change Variation ID SNP ID
1 FANCD2 p.Ser126Gly VAR_022559 rs764507146
2 FANCD2 p.Arg302Trp VAR_022560 rs121917787
3 FANCD2 p.Arg1236His VAR_022562 rs121917786

Expression for Fanconi Anemia, Complementation Group D2

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group D2.

Pathways for Fanconi Anemia, Complementation Group D2

Pathways related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.09 RAD51 FANCD2 FANCA BRCA2
2
Show member pathways
11.28 MBOAT2 LPCAT3 DGAT1
3 11.23 RAD51 FANCD2 FANCA BRCA2
4
Show member pathways
10.84 RAD51 FANCD2 FANCA BRCA2
5 10.79 RAD51 FANCD2 FANCA

GO Terms for Fanconi Anemia, Complementation Group D2

Cellular components related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 RAD51 BRCA2

Biological processes related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to X-ray GO:0010165 9.4 RAD51 BRCA2
2 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCD2 FANCA
3 interstrand cross-link repair GO:0036297 9.33 RAD51 FANCD2 FANCA
4 unsaturated fatty acid biosynthetic process GO:0006636 9.32 SCD FADS2
5 telomere maintenance via recombination GO:0000722 9.26 RAD51 BRCA2
6 regulation of CD40 signaling pathway GO:2000348 8.96 FANCD2 FANCA
7 mitotic recombination-dependent replication fork processing GO:1990426 8.62 RAD51 BRCA2

Molecular functions related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.96 RAD51 FANCD2
2 stearoyl-CoA 9-desaturase activity GO:0004768 8.62 SCD FADS2

Sources for Fanconi Anemia, Complementation Group D2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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