NCAPH2
Homo sapiens
Gene Name: non-SMC condensin II complex subunit H2
Aliases: CAPH2
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare single gene variant
Aliases: CAPH2
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the NCAPH2 gene (Bonferroni-corrected cluster P-value of 4.77E-04).
Molecular Function
This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD
Support
Using the linear references from the pangenome to discover missing autism variants
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1212R003a
upstream_gene_variant
CCCCAGGCCCCGCCTCCTCACCGCCCCGCCCGCCCAATCCGTGGCAGCCCCAAGCCCCGCCTCCTCGGCCCGCCCGCCCGCCCGCGGCAGT>C
Familial
Both parents
Simplex
Common
No Common Variants Available
