DMRTA2 (Doublesex and Mab-3 Related Transcription Factor A2)
A key regulator of neurogenesis and sexual development, implicated in intellectual disability and autism spectrum disorder.
Gene Information Card
| Symbol | DMRTA2 |
|---|---|
| Full Name | Doublesex and Mab-3 Related Transcription Factor A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 63950 ncbi.nlm.nih.gov/gene/63950 |
| Ensembl ID | ENSG00000142798 |
| UniProt ID | Q9Y5R6 |
| OMIM ID | 614157 |
| HGNC ID | 13906 |
| Aliases | DMRT5, DMRTA2 |
Description
DMRTA2 (also known as DMRT5) encodes a transcription factor containing a DM domain, which is involved in male sexual development and neurogenesis. It is expressed in the developing brain and gonads, and plays a critical role in cortical development, particularly in the regulation of neural progenitor cell proliferation and differentiation. Mutations in DMRTA2 are associated with intellectual disability, autism spectrum disorder, and other neurodevelopmental phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 70 (MRD70) | Loss-of-function mutations impair neurogenesis and cortical development. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | De novo missense and truncating variants disrupt transcription factor function. | ClinVar, OMIM |
| Developmental and epileptic encephalopathy | Rare missense variants associated with seizures and developmental delay. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Medium |
| Testis | 2.1 | Low |
| Pituitary gland | 1.8 | Low |
| Spinal cord | 1.5 | Low |
| Adrenal gland | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Neuronal model |
| U-87 MG (glioblastoma) | 1.2 | Low expression |
| HEK 293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.286G>A (p.Gly96Arg) | Missense | Rare | Likely loss of function; reported in ASD |
| c.424C>T (p.Arg142Trp) | Missense | Rare | Uncertain significance; reported in developmental delay |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of neurogenesis | • male gonad development |
| • nucleus |
Pathways
• Neurogenesis
• Cortical development
Protein Summary
The DMRTA2 protein contains a DM domain that binds DNA and regulates transcription. It is 561 amino acids long and localizes to the nucleus. It is essential for proper development of the cerebral cortex and male reproductive system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMRTA2 Knockout HEK293 Cell Line | EDJ-KQ13162 | Human | 63950 | Details Get a Quote |
| DMRTA2 Knockout HeLa Cell Line | EDJ-KQ57004 | Human | 63950 | Details Get a Quote |
| DMRTA2 Knockout A-549 Cell Line | EDJ-KQ65509 | Human | 63950 | Details Get a Quote |
| DMRTA2 Knockout HCT 116 Cell Line | EDJ-KQ73945 | Human | 63950 | Details Get a Quote |
