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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)