DMRT2 Gene Summary [Human]
The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
Details
| Type | Protein Coding |
| Official Symbol | DMRT2 |
| Official Name | doublesex and mab-3 related transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:2935] |
| Ensembl ID | ENSG00000173253 |
| Bio databases IDs | |
| Aliases | doublesex and mab-3 related transcription factor 2, terra-like protein |
| Synonyms | doublesex and mab-3 related transcription factor 2, DSXL-2, Terra |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DMRT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DM DNA binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- DNA endogenous promoter
- DNA promoter
- RNA polymerase II
disease
- non-insulin-dependent diabetes mellitus
- diabetic nephropathy
- renal clear cell adenocarcinoma
- renal clear cell cancer
- dyspnea
- atelectasis
- chronic obstructive pulmonary disease
- cleft lip
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DMRT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sex differentiation
- regulation of somitogenesis
- myotome development
- positive regulation of myotome development
- embryonic skeletal system development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity