ARID2 |
- 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
- 0.23(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
ClinGen Curation ID:
CCID:006689
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:
- Coffin-Siris syndrome 6 Monarch
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)