DMRT2 (Doublesex and Mab-3 Related Transcription Factor 2)
A key regulator of sexual development and somitogenesis
Gene Information Card
| Symbol | DMRT2 |
|---|---|
| Full Name | Doublesex and Mab-3 Related Transcription Factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.3 |
| NCBI Gene ID | 10655 ncbi.nlm.nih.gov/gene/10655 |
| Ensembl ID | ENSG00000136868 |
| UniProt ID | Q9Y5R6 |
| OMIM ID | 604935 |
| HGNC ID | 2935 |
| Aliases | DMRT2, doublesex- and mab-3-related transcription factor 2 |
Description
DMRT2 is a member of the DMRT (doublesex and mab-3 related transcription factor) gene family, which encodes proteins with a DM domain involved in sexual development and differentiation. DMRT2 is also implicated in somitogenesis and skeletal development. It is expressed in various tissues, including testis, ovary, and developing somites.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disorders of sexual development (DSD) | Altered DMRT2 expression or function may disrupt gonadal development and sex determination. | ClinVar, OMIM |
| Skeletal abnormalities | DMRT2 plays a role in somitogenesis; mutations may affect vertebral segmentation. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Ovary | 4.5 | Low |
| Skeletal muscle | 3.1 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.5 | Cervical cancer cell line |
| K562 | 4.8 | Leukemia cell line |
| A549 | 3.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41*) | Nonsense | <0.01% | Loss of function; associated with DSD |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% | Loss of function; potential skeletal defects |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • male sex determination |
| • female sex determination | • somitogenesis |
Pathways
• Sex determination
• Somitogenesis
Protein Summary
DMRT2 is a transcription factor containing a DM domain that binds DNA and regulates gene expression involved in sexual development and somitogenesis. It is expressed in gonads and developing somites, and its dysfunction is linked to disorders of sexual development and skeletal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMRT2 Knockout HEK293 Cell Line | EDJ-KQ7119 | Human | 10655 | Details Get a Quote |
| DMRT2 Knockout HeLa Cell Line | EDJ-KQ55455 | Human | 10655 | Details Get a Quote |
| DMRT2 Knockout A-549 Cell Line | EDJ-KQ63938 | Human | 10655 | Details Get a Quote |
| DMRT2 Knockout HCT 116 Cell Line | EDJ-KQ72395 | Human | 10655 | Details Get a Quote |
