ARHGAP31

  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARHGAP31 (HGNC:29216) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Rho GTPase activating protein 31
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CDGAP
%HI
37.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.19(Read more about gnomAD LOEUF score)
Cytoband
3q13.32-q13.33
Genomic Coordinates
GRCh37/hg19: chr3:119013230-119139561 NCBI Ensembl UCSC
GRCh38/hg38: chr3:119294383-119420714 NCBI Ensembl UCSC
MANE Select Transcript
NM_020754.4 ENST00000264245.9 (Read more about MANE Select)
Function
Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration. {ECO:0000269|PubMed:12192056, ECO:0000269|PubMed:16519628}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19647
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Assoc. with Reduced Penetrance:
Yes
Southgate et al (PMID: 21565291), family AOS-5 with c.3260delA, p.Lys1087Ser fs*4 has one asymptomatic carrier
Last Evaluated:
06/13/2023

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Various publications describe variants in ARHGAP31 in individuals with Adams Oliver Syndrome (per OMIM, characterized by "aplasia cutis congenita of the scalp vertex and terminal transverse limb defects") and/ or isolated transverse terminal limb defects (PMIDs: 21565291, 24668619, 29924900, etc.). To date, all reported variants are clustered in the last exon, are premature truncations, and are not expected to undergo nonsense mediated decay. Some publications (for example, PMID: 21565291) have experimental evidence to indicate that these variants may lead to constitutively active ARHGAP31 resulting in a loss of available active Cdc42 and consequent disruption of actin cytoskeletal structures. At this time, there is no evidence that haploinsufficiency of this gene causes disease phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications of this gene have been reported to be associated with an abnormal phenotype at the time of this review.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)