DIP2A
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DIP2A (HGNC:17217) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
disco interacting protein 2 homolog A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C21orf106
Alias symbols
Dip2, KIAA0184
%HI
58.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.62(Read more about gnomAD LOEUF score)
Cytoband
21q22.3
Genomic Coordinates
GRCh37/hg19: chr21:47878804-47991139 NCBI Ensembl UCSC
GRCh38/hg38: chr21:46458891-46583871 NCBI Ensembl UCSC
MANE Select Transcript
NM_015151.4 ENST00000417564.3 (Read more about MANE Select)
Function
Catalyzes the de novo synthesis of acetyl-CoA in vitro (By similarity). Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission (By similarity). Binds to follistatin-related protein FSTL1 and may act as a cell surface receptor for FSTL1, contributing to AKT activation and subsequent FSTL1-induced survival and function of endothelial cells and cardiac myocytes (PubMed:20054002). {ECO:0000250|UniProtKB:Q8BWT5, ECO:... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3761
ClinGen Curation ID:
CCID:006989
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/23/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 18521840
    Poelmans et al., detected a deletion on 21q22.3 containing four genes (PCNT, DIP2A, S100B, and PRMT2) in a family. The deletion cosegregated with dyslexia in a father and his three sons.
  • PUBMED: 25363768
    Iossifov et al. reported the detection of a de novo nonsense variant (21:47957426:G:A) and a de novo frameshift variant (21:47958429:A:ACTGGTCT) in the male probands of two autism families (Simons simplex collection ID 13106 and 13012 respectively). The unaffected siblings did not have the same variants. The two de novo variants were identified among 2517 autism families. The frameshift variant was reported in an earlier paper by the same first author (PMID: 22542183)
  • PUBMED: 24643514
    Egger etal. reported a ASD patient with a de novo 2.9Mb deletion at 21q22.3 (chr21:43,994,161-46,921,385) involving DIAP2A gene. There are about 100 refSeq genes at this interval.
HI Evidence Comments:
Two de novo LOF variants in autism patients and one de novo complete deletion (along with 100 other genes) in an autism patient, as well as one complete deletion (along with three other genes) segregated in a family with dyslexia

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000021.8) (NC_000021.9)