• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ARID2 (HGNC:18037) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
AT-rich interaction domain 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1557, DKFZp686G052, FLJ30619, BAF200, SMARCF3, ZIPZAP, p200
%HI
11.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.1(Read more about gnomAD LOEUF score)
Cytoband
12q12
Genomic Coordinates
GRCh37/hg19: chr12:46123489-46301820 NCBI Ensembl UCSC
GRCh38/hg38: chr12:45729706-45908037 NCBI Ensembl UCSC
MANE Select Transcript
NM_152641.4 ENST00000334344.11 (Read more about MANE Select)
Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes. {ECO:0000269|PubMed:16782067, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35200
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/26/2019

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 29698805
    Gazdagh et al (2018) - DDD/Decipher paper, exomes (WES) and CMA. 5 unrelated individuals with de novo truncating mutations in the ARID2 gene. 1 individual with de novo deletion of 5' end of ARID2 gene. (1 additional individual with a larger deletion that includes ARID2). All cases had features similar to Coffin-Siris syndrome (although hypertrichosis and hypoplasia of the fifth finger nail and distal phalanx do not appear to be common in these patients, toenail hypoplasia and the presence of Wormian bones was common).
  • PUBMED: 26238514
    Shang et al (2015) - exomes (WES). 3 independent LOF de novo variants in ARID2. (1 additional LOF but inheritance unknown). All patients have intellectual disability and share other characteristics including attention deficit hyperactivity disorder, short stature, dysmorphic features and Wormian bones.
  • PUBMED: 28124119
    Bramswig et al (2017) - exomes (WES) 2 individuals with de novo ARID2 frameshift variants. Both had Coffin-Siris type phenotpyes (intellectual disability, coarsening of facial features, other recognizable facial dysmorphisms and hypoplasia of the fifth toenails).
HI Evidence Comments:
ARID2 haploinsufficiency leads to Coffin-Siris type phenotypes which include intellectual disability, coarsening of facial features, and hypoplasia of the fifth fingernails or toenails (PMID: 28124119).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time there is no evidence that supports the triplosensitivity of ARID2.

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)