MCPH2
MCID: MCR222
MIFTS: 46

Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations (MCPH2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards integrated aliases for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

Name: Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations 57 75 13
Mcph2 57 12 75
Primary Autosomal Recessive Microcephaly 2 with or Without Cortical Malformations 12 15
Microcephaly, Primary Autosomal Recessive, 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
variable phenotype, particularly with regard to cortical malformations


HPO:

32
microcephaly 2, primary, autosomal recessive, with or without cortical malformations:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

OMIM : 57 Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). (604317)

MalaCards based summary : Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations, also known as mcph2, is related to primary microcephaly and microcephaly, and has symptoms including hemiparesis An important gene associated with Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations is WDR62 (WD Repeat Domain 62), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain and cerebellum, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 75 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.

Related Diseases for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 primary microcephaly 29.6 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
2 microcephaly 29.4 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
3 microcephaly 8, primary, autosomal recessive 10.1 CEP63 CNTLN
4 seckel syndrome 5 10.1 CENPJ CEP152
5 microcephaly 13, primary, autosomal recessive 10.1 ADGRG1 MCPH1 WDR62
6 microcephalic osteodysplastic primordial dwarfism, type ii 10.1 CDK5RAP2 CENPJ CNTLN
7 seckel syndrome 4 10.1 CENPJ CNTLN
8 seckel syndrome 1 10.0 CENPJ CEP152
9 microcephaly 1, primary, autosomal recessive 10.0
10 seckel syndrome 2 10.0 CENPJ CEP152
11 corneal dystrophy, meesmann 10.0 CEP152 CNTLN
12 seckel syndrome 9.9 CENPJ CEP152 CEP63 CNTLN MCPH1
13 microcephaly 3, primary, autosomal recessive 9.8 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
14 primary autosomal recessive microcephaly 9.8 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
15 physical disorder 9.8 CDK5RAP2 CENPJ CEP63 MCPH1 NDE1 WDR62
16 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
17 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
18 long qt syndrome 9.7 CALM1 CALM2 CALM3
19 otomycosis 9.7 CALM1 CALM2 CALM3
20 external ear disease 9.7 CALM1 CALM2 CALM3
21 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
22 sporotrichosis 9.7 CALM1 CALM2 CALM3
23 otitis externa 9.7 CALM1 CALM2 CALM3
24 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
25 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
26 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
27 dystonia 24 9.7 CALM1 CALM2 CALM3
28 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
29 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
30 microcephaly 12, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
31 microcephaly 17, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
32 microcephaly 18, primary, autosomal dominant 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
33 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
34 tinea unguium 9.7 CALM1 CALM2 CALM3
35 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
36 clear cell acanthoma 9.7 CALM1 CALM2 CALM3
37 cardiomyopathy, dilated, 1a 9.7 CALM1 CALM2 CALM3
38 cardiomyopathy, dilated, 1p 9.7 CALM1 CALM2 CALM3
39 phaeohyphomycosis 9.7 CALM1 CALM2 CALM3
40 microcephaly 4, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
41 microcephaly 6, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
42 deafness, autosomal dominant 2a 9.7 CALM1 CALM2 CALM3
43 ceroid lipofuscinosis, neuronal, 11 9.6 CALM1 CALM2 CALM3
44 primary cutaneous amyloidosis 9.6 CALM1 CALM2 CALM3
45 catecholaminergic polymorphic ventricular tachycardia 9.6 CALM1 CALM2 CALM3
46 cardiac arrest 9.6 CALM1 CALM2 CALM3
47 microcephaly 5, primary, autosomal recessive 9.6 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
48 congenital nervous system abnormality 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
49 microcephaly 7, primary, autosomal recessive 9.4 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1

Graphical network of the top 20 diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:



Diseases related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Symptoms & Phenotypes for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
hypertonia
pachygyria
polymicrogyria
lissencephaly
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
aggression
head banging

Head And Neck Head:
microcephaly (-4 to -7 sd)

Head And Neck Face:
sloping forehead
low forehead

Prenatal Manifestations Movement:
decreased fetal movements


Clinical features from OMIM:

604317

Human phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 frequent (33%) HP:0001250
3 hyperreflexia 32 HP:0001347
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 microcephaly 32 HP:0000252
7 aggressive behavior 32 HP:0000718
8 decreased fetal movement 32 HP:0001558
9 pachygyria 32 HP:0001302
10 polymicrogyria 32 HP:0002126
11 sloping forehead 32 HP:0000340
12 spastic tetraparesis 32 HP:0001285
13 hypoplasia of the corpus callosum 32 HP:0002079
14 hyperactivity 32 HP:0000752
15 impulsivity 32 HP:0100710
16 heterotopia 32 HP:0002282
17 hemiparesis 32 HP:0001269
18 cortical gyral simplification 32 HP:0009879
19 schizencephaly 32 HP:0010636

UMLS symptoms related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:


hemiparesis

GenomeRNAi Phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.8 CALM2 CALM3 PLK1

MGI Mouse Phenotypes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 ADGRG1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
2 nervous system MP:0003631 9.28 ADGRG1 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1

Drugs & Therapeutics for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Search Clinical Trials , NIH Clinical Center for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations

Genetic Tests for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Anatomical Context for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

MalaCards organs/tissues related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

41
Brain, Cerebellum

Publications for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Articles related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

# Title Authors Year
1
The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development. ( 28940170 )
2018

Variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

75
# Symbol AA change Variation ID SNP ID
1 WDR62 p.Trp224Ser VAR_063702 rs267607176
2 WDR62 p.Glu526Lys VAR_063703 rs147875659
3 WDR62 p.Val65Met VAR_065843 rs387907084
4 WDR62 p.Arg438His VAR_065844 rs387907082
5 WDR62 p.Asp511Asn VAR_065845 rs387907083

ClinVar genetic disease variations for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR62 NM_001083961.1(WDR62): c.4205_4208delTGCC (p.Val1402Glyfs) deletion Pathogenic rs397704721 GRCh37 Chromosome 19, 36595471: 36595474
2 WDR62 NM_001083961.1(WDR62): c.4205_4208delTGCC (p.Val1402Glyfs) deletion Pathogenic rs397704721 GRCh38 Chromosome 19, 36104569: 36104572
3 WDR62 NM_001083961.1(WDR62): c.1576G> A (p.Glu526Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147875659 GRCh37 Chromosome 19, 36575580: 36575580
4 WDR62 NM_001083961.1(WDR62): c.1576G> A (p.Glu526Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147875659 GRCh38 Chromosome 19, 36084678: 36084678
5 WDR62 NM_001083961.1(WDR62): c.671G> C (p.Trp224Ser) single nucleotide variant Pathogenic rs267607176 GRCh37 Chromosome 19, 36558317: 36558317
6 WDR62 NM_001083961.1(WDR62): c.671G> C (p.Trp224Ser) single nucleotide variant Pathogenic rs267607176 GRCh38 Chromosome 19, 36067415: 36067415
7 WDR62 NM_001083961.1(WDR62): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs267607177 GRCh37 Chromosome 19, 36574001: 36574001
8 WDR62 NM_001083961.1(WDR62): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs267607177 GRCh38 Chromosome 19, 36083099: 36083099
9 WDR62 NM_001083961.1(WDR62): c.3839_3855del17 (p.Gly1280Alafs) deletion Pathogenic rs397704725 GRCh37 Chromosome 19, 36594569: 36594585
10 WDR62 NM_001083961.1(WDR62): c.3839_3855del17 (p.Gly1280Alafs) deletion Pathogenic rs397704725 GRCh38 Chromosome 19, 36103667: 36103683
11 WDR62 NM_001083961.1(WDR62): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs387907082 GRCh37 Chromosome 19, 36572414: 36572414
12 WDR62 NM_001083961.1(WDR62): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs387907082 GRCh38 Chromosome 19, 36081512: 36081512
13 WDR62 NM_001083961.1(WDR62): c.4241dupT (p.Ser1415Glufs) duplication Pathogenic rs587776899 GRCh38 Chromosome 19, 36104605: 36104605
14 WDR62 NM_001083961.1(WDR62): c.4241dupT (p.Ser1415Glufs) duplication Pathogenic rs587776899 GRCh37 Chromosome 19, 36595507: 36595507
15 WDR62 NM_001083961.1(WDR62): c.1531G> A (p.Asp511Asn) single nucleotide variant Pathogenic rs387907083 GRCh37 Chromosome 19, 36574124: 36574124
16 WDR62 NM_001083961.1(WDR62): c.1531G> A (p.Asp511Asn) single nucleotide variant Pathogenic rs387907083 GRCh38 Chromosome 19, 36083222: 36083222
17 WDR62 NM_001083961.1(WDR62): c.3936dupC (p.Val1313Argfs) duplication Pathogenic rs587776900 GRCh38 Chromosome 19, 36103764: 36103764
18 WDR62 NM_001083961.1(WDR62): c.3936dupC (p.Val1313Argfs) duplication Pathogenic rs587776900 GRCh37 Chromosome 19, 36594666: 36594666
19 WDR62 NM_001083961.1(WDR62): c.363delT (p.Asp122Metfs) deletion Pathogenic rs587776901 GRCh38 Chromosome 19, 36065988: 36065988
20 WDR62 NM_001083961.1(WDR62): c.363delT (p.Asp122Metfs) deletion Pathogenic rs587776901 GRCh37 Chromosome 19, 36556890: 36556890
21 WDR62 NM_001083961.1(WDR62): c.193G> A (p.Val65Met) single nucleotide variant Pathogenic rs387907084 GRCh37 Chromosome 19, 36549697: 36549697
22 WDR62 NM_001083961.1(WDR62): c.193G> A (p.Val65Met) single nucleotide variant Pathogenic rs387907084 GRCh38 Chromosome 19, 36058795: 36058795
23 WDR62 NM_173636.4(WDR62): c.2086delA (p.Ser696Alafs) deletion Pathogenic rs863223322 GRCh38 Chromosome 19, 36091251: 36091251
24 WDR62 NM_173636.4(WDR62): c.2086delA (p.Ser696Alafs) deletion Pathogenic rs863223322 GRCh37 Chromosome 19, 36582153: 36582153
25 WDR62 NM_173636.4(WDR62): c.2746_2747delAG (p.Gln918Glyfs) deletion Pathogenic rs863223323 GRCh38 Chromosome 19, 36100754: 36100755
26 WDR62 NM_173636.4(WDR62): c.2746_2747delAG (p.Gln918Glyfs) deletion Pathogenic rs863223323 GRCh37 Chromosome 19, 36591656: 36591657
27 WDR62 NM_001083961.1(WDR62): c.142C> T (p.Leu48Phe) single nucleotide variant Benign/Likely benign rs62109744 GRCh37 Chromosome 19, 36546015: 36546015
28 WDR62 NM_001083961.1(WDR62): c.142C> T (p.Leu48Phe) single nucleotide variant Benign/Likely benign rs62109744 GRCh38 Chromosome 19, 36055113: 36055113
29 WDR62 NM_001083961.1(WDR62): c.3929A> T (p.Gln1310Leu) single nucleotide variant Benign rs2074435 GRCh37 Chromosome 19, 36594659: 36594659
30 WDR62 NM_001083961.1(WDR62): c.3929A> T (p.Gln1310Leu) single nucleotide variant Benign rs2074435 GRCh38 Chromosome 19, 36103757: 36103757
31 WDR62 NM_001083961.1(WDR62): c.700-18C> T single nucleotide variant Benign rs10423651 GRCh38 Chromosome 19, 36067810: 36067810
32 WDR62 NM_001083961.1(WDR62): c.700-18C> T single nucleotide variant Benign rs10423651 GRCh37 Chromosome 19, 36558712: 36558712
33 WDR62 NM_001083961.1(WDR62): c.186C> T (p.Leu62=) single nucleotide variant Benign/Likely benign rs11538454 GRCh38 Chromosome 19, 36058788: 36058788
34 WDR62 NM_001083961.1(WDR62): c.186C> T (p.Leu62=) single nucleotide variant Benign/Likely benign rs11538454 GRCh37 Chromosome 19, 36549690: 36549690
35 WDR62 NM_001083961.1(WDR62): c.2991C> T (p.Ala997=) single nucleotide variant Benign/Likely benign rs77898819 GRCh38 Chromosome 19, 36101683: 36101683
36 WDR62 NM_001083961.1(WDR62): c.2991C> T (p.Ala997=) single nucleotide variant Benign/Likely benign rs77898819 GRCh37 Chromosome 19, 36592585: 36592585
37 WDR62 NM_001083961.1(WDR62): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs587784552 GRCh37 Chromosome 19, 36545905: 36545905
38 WDR62 NM_001083961.1(WDR62): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs587784552 GRCh38 Chromosome 19, 36055003: 36055003
39 WDR62 NM_001083961.1(WDR62): c.82C> G (p.Arg28Gly) single nucleotide variant Uncertain significance rs200283315 GRCh37 Chromosome 19, 36545955: 36545955
40 WDR62 NM_001083961.1(WDR62): c.82C> G (p.Arg28Gly) single nucleotide variant Uncertain significance rs200283315 GRCh38 Chromosome 19, 36055053: 36055053
41 WDR62 NM_001083961.1(WDR62): c.180G> A (p.Val60=) single nucleotide variant Benign/Likely benign rs61742664 GRCh37 Chromosome 19, 36549684: 36549684
42 WDR62 NM_001083961.1(WDR62): c.180G> A (p.Val60=) single nucleotide variant Benign/Likely benign rs61742664 GRCh38 Chromosome 19, 36058782: 36058782
43 WDR62 NM_001083961.1(WDR62): c.332+1G> A single nucleotide variant Pathogenic rs587784553 GRCh37 Chromosome 19, 36550933: 36550933
44 WDR62 NM_001083961.1(WDR62): c.332+1G> A single nucleotide variant Pathogenic rs587784553 GRCh38 Chromosome 19, 36060031: 36060031
45 WDR62 NM_001083961.1(WDR62): c.359C> A (p.Ser120Tyr) single nucleotide variant Likely pathogenic rs587784558 GRCh37 Chromosome 19, 36556886: 36556886
46 WDR62 NM_001083961.1(WDR62): c.359C> A (p.Ser120Tyr) single nucleotide variant Likely pathogenic rs587784558 GRCh38 Chromosome 19, 36065984: 36065984
47 WDR62 NM_001083961.1(WDR62): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs535488873 GRCh37 Chromosome 19, 36558235: 36558235
48 WDR62 NM_001083961.1(WDR62): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs535488873 GRCh38 Chromosome 19, 36067333: 36067333
49 WDR62 NM_001083961.1(WDR62): c.964G> C (p.Ala322Pro) single nucleotide variant Uncertain significance rs587784561 GRCh37 Chromosome 19, 36562539: 36562539
50 WDR62 NM_001083961.1(WDR62): c.964G> C (p.Ala322Pro) single nucleotide variant Uncertain significance rs587784561 GRCh38 Chromosome 19, 36071637: 36071637

Expression for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Search GEO for disease gene expression data for Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations.

Pathways for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Pathways related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
2
Show member pathways
13.06 CDK5RAP2 CENPJ CEP152 CEP63 NDE1 PLK1
3
Show member pathways
12.92 CALM1 CALM2 CALM3 NDE1 PLK1
4
Show member pathways
12.46 CDK5RAP2 CENPJ CEP152 CEP63 NDE1 PLK1
5
Show member pathways
12.23 CALM1 CALM2 CALM3 PLK1
6
Show member pathways
12.17 CALM1 CALM2 CALM3
7
Show member pathways
12.15 CALM1 CALM2 CALM3
8 12.14 CALM1 CALM2 CALM3
9
Show member pathways
12.12 CALM1 CALM2 CALM3
10
Show member pathways
12.12 CALM1 CALM2 CALM3
11
Show member pathways
12.1 CALM1 CALM2 CALM3
12
Show member pathways
12.1 CALM1 CALM2 CALM3
13
Show member pathways
12.08 CALM1 CALM2 CALM3
14 12.08 CALM1 CALM2 CALM3
15
Show member pathways
12.06 CALM1 CALM2 CALM3
16
Show member pathways
12.04 CALM1 CALM2 CALM3
17 12.01 CALM1 CALM2 CALM3
18 12 CALM1 CALM2 CALM3
19
Show member pathways
11.94 CALM1 CALM2 CALM3
20
Show member pathways
11.92 CALM1 CALM2 CALM3
21
Show member pathways
11.89 CALM1 CALM2 CALM3
22
Show member pathways
11.86 CALM1 CALM2 CALM3
23 11.84 CALM1 CALM2 CALM3
24 11.84 CALM1 CALM2 CALM3
25 11.82 CALM1 CALM2 CALM3
26
Show member pathways
11.81 CALM1 CALM2 CALM3
27
Show member pathways
11.78 CALM1 CALM2 CALM3
28
Show member pathways
11.77 CALM1 CALM2 CALM3
29
Show member pathways
11.71 CALM1 CALM2 CALM3
30
Show member pathways
11.7 CALM1 CALM2 CALM3
31
Show member pathways
11.68 CALM1 CALM2 CALM3
32 11.67 CALM1 CALM2 CALM3
33
Show member pathways
11.66 CALM1 CALM2 CALM3
34 11.65 CALM1 CALM2 CALM3
35
Show member pathways
11.59 CALM1 CALM2 CALM3
36 11.57 CALM1 CALM2 CALM3
37 11.54 CALM1 CALM2 CALM3
38
Show member pathways
11.52 CALM1 CALM2 CALM3
39 11.5 CALM1 CALM2 CALM3
40 11.48 CALM1 CALM2 CALM3
41 11.42 CALM1 CALM2 CALM3
42 11.26 CALM1 CALM2 CALM3
43 11.24 CALM1 CALM2 CALM3
44 11.21 CALM1 CALM2
45 11.21 CALM1 CALM2 CALM3
46 11.21 CALM1 CALM2 CALM3
47 11.17 CALM1 CALM2 CALM3
48 11.12 CALM1 CALM2 CALM3
49 11.1 CALM1 CALM2
50 11.07 CALM1 CALM2 CALM3

GO Terms for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

Cellular components related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.92 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
2 spindle GO:0005819 9.83 CALM1 CALM2 CALM3 NDE1 PLK1
3 centriole GO:0005814 9.8 CENPJ CEP152 CEP63 CNTLN PLK1 STIL
4 cytoskeleton GO:0005856 9.77 CALM1 CALM2 CALM3 CDK5RAP2 CENPJ CEP152
5 vesicle GO:0031982 9.72 CALM1 CALM2 CALM3
6 myelin sheath GO:0043209 9.71 CALM1 CALM2 CALM3
7 spindle pole GO:0000922 9.7 CALM1 CALM2 CALM3 CDK5RAP2 CEP63 PLK1
8 sarcomere GO:0030017 9.67 CALM1 CALM2 CALM3
9 spindle microtubule GO:0005876 9.67 CALM1 CALM2 CALM3 PLK1
10 calcium channel complex GO:0034704 9.65 CALM1 CALM2 CALM3
11 catalytic complex GO:1902494 9.58 CALM1 CALM2 CALM3
12 pericentriolar material GO:0000242 9.52 CDK5RAP2 CEP152
13 centrosome GO:0005813 9.4 CALM1 CALM2 CALM3 CDK5RAP2 CENPJ CEP152
14 cytoplasm GO:0005737 10.27 CALM1 CALM2 CALM3 CDK5RAP2 CENPJ CEP152
15 cytosol GO:0005829 10.21 CALM1 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN

Biological processes related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.98 CENPJ CEP63 NDE1 PLK1
2 calcium-mediated signaling GO:0019722 9.83 CALM1 CALM2 CALM3
3 cerebral cortex development GO:0021987 9.82 MCPH1 NDE1 WDR62
4 response to calcium ion GO:0051592 9.81 CALM1 CALM2 CALM3
5 positive regulation of protein serine/threonine kinase activity GO:0071902 9.8 CALM1 CALM2 CALM3
6 substantia nigra development GO:0021762 9.79 CALM1 CALM2 CALM3
7 regulation of heart rate GO:0002027 9.79 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.77 CALM1 CALM2 CALM3
9 establishment of mitotic spindle orientation GO:0000132 9.77 CDK5RAP2 MCPH1 NDE1
10 positive regulation of protein autophosphorylation GO:0031954 9.76 CALM1 CALM2 CALM3
11 regulation of cytokinesis GO:0032465 9.76 CALM1 CALM2 CALM3 PLK1
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.75 CALM1 CALM2 CALM3
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.74 CALM1 CALM2 CALM3
14 regulation of cardiac muscle contraction GO:0055117 9.73 CALM1 CALM2 CALM3
15 ciliary basal body-plasma membrane docking GO:0097711 9.73 CDK5RAP2 CENPJ CEP152 CEP63 NDE1 PLK1
16 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.72 CALM1 CALM2 CALM3
17 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.71 CALM1 CALM2 CALM3
18 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3 PLK1
19 detection of calcium ion GO:0005513 9.7 CALM1 CALM2 CALM3
20 positive regulation of DNA binding GO:0043388 9.69 CALM2 CALM3
21 microtubule bundle formation GO:0001578 9.69 CDK5RAP2 PLK1
22 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.69 CALM1 CALM2 CALM3
23 positive regulation of nitric-oxide synthase activity GO:0051000 9.68 CALM1 CALM3
24 response to corticosterone GO:0051412 9.68 CALM1 CALM3
25 microtubule nucleation GO:0007020 9.68 CENPJ NDE1
26 protein localization to organelle GO:0033365 9.67 CNTLN PLK1
27 protein localization to centrosome GO:0071539 9.67 MCPH1 STIL
28 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.67 CALM1 CALM3
29 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.67 CALM1 CALM2 CALM3
30 regulation of synaptic vesicle endocytosis GO:1900242 9.66 CALM1 CALM3
31 establishment of protein localization to membrane GO:0090150 9.66 CALM1 CALM3
32 microtubule organizing center organization GO:0031023 9.65 CDK5RAP2 NDE1
33 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.65 CALM1 CALM2 CALM3
34 regulation of high voltage-gated calcium channel activity GO:1901841 9.64 CALM1 CALM3
35 regulation of centriole replication GO:0046599 9.63 CENPJ STIL
36 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.63 CEP152 CEP63
37 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.63 CDK5RAP2 CENPJ CEP152 CEP63 NDE1 PLK1
38 centrosome duplication GO:0051298 9.62 CENPJ CEP152 NDE1 STIL
39 establishment of protein localization to mitochondrial membrane GO:0090151 9.61 CALM1 CALM3
40 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.61 CALM1 CALM2 CALM3
41 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.54 CALM1 CALM2 CALM3
42 centriole replication GO:0007099 9.35 CDK5RAP2 CENPJ CEP152 CEP63 WDR62
43 G2/M transition of mitotic cell cycle GO:0000086 9.23 CALM2 CALM3 CDK5RAP2 CENPJ CEP152 CEP63

Molecular functions related to Microcephaly 2, Primary, Autosomal Recessive, with or Without Cortical Malformations according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.73 CALM1 CALM2 CALM3 CENPJ CNTLN NDE1
2 ion channel binding GO:0044325 9.71 CALM1 CALM2 CALM3
3 disordered domain specific binding GO:0097718 9.65 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.61 CALM1 CALM2 CALM3
5 titin binding GO:0031432 9.58 CALM1 CALM2 CALM3
6 enzyme regulator activity GO:0030234 9.56 CALM1 CALM3
7 phosphatidylinositol 3-kinase binding GO:0043548 9.55 CALM1 CALM3
8 adenylate cyclase binding GO:0008179 9.54 CALM1 CALM2 CALM3
9 nitric-oxide synthase binding GO:0050998 9.52 CALM1 CALM3
10 calcium channel inhibitor activity GO:0019855 9.51 CALM1 CALM2
11 protein phosphatase activator activity GO:0072542 9.5 CALM1 CALM2 CALM3
12 nitric-oxide synthase regulator activity GO:0030235 9.49 CALM1 CALM3
13 type 3 metabotropic glutamate receptor binding GO:0031800 9.46 CALM1 CALM3
14 adenylate cyclase activator activity GO:0010856 9.33 CALM1 CALM2 CALM3
15 protein kinase binding GO:0019901 9.23 CALM1 CALM2 CALM3 CDK5RAP2 CENPJ CEP152
16 N-terminal myristoylation domain binding GO:0031997 9.13 CALM1 CALM2 CALM3

Sources for Microcephaly 2, Primary, Autosomal Recessive, with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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