DMRT2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DMRT2 (HGNC:2935) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
doublesex and mab-3 related transcription factor 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
53.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
9p24.3
Genomic Coordinates
GRCh37/hg19: chr9:1050357-1057552 NCBI Ensembl UCSC
GRCh38/hg38: chr9:1050357-1057552 NCBI Ensembl UCSC
MANE Select Transcript
NM_181872.6 ENST00000358146.7 (Read more about MANE Select)
Function
Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36060
ClinGen Curation ID:
CCID:007008
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
DMRT2 is believed to be involved in gonadal development. Deletions in distal 9p have been identified in individuals with gonadal dysgenesis, and DMRT2 has been proposed as a candidate gene (PMID: 10857744, PMID: 10999792, PMID: 11720880, PMID: 21048976, 15481033, 10729223, 20138017, 17644778), but at this time, no deletions or loss of function mutationsin DMRT2 alone have been reported in humans with a specific phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence has been found to support or refute triplosensitivity for this gene.

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)