DMRTA1 (DMRT like family A1)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63951
Gene name Gene Name - the full gene name approved by the HGNC.
DMRT like family A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DMRTA1
Synonyms (NCBI Gene) Gene synonyms aliases
DMO, DMRT4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT2213196 hsa-miR-3161 CLIP-seq
MIRT2213197 hsa-miR-3614-5p CLIP-seq
MIRT2213198 hsa-miR-3682-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001541 Process Ovarian follicle development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614803 13826 ENSG00000176399
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5VZB9
Protein name Doublesex- and mab-3-related transcription factor A1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00751 DM 93 → 139 DM DNA binding domain Family
PF03474 DMA 327 → 363 DMRTA motif Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary. {ECO:0000269|PubMed:11863363}.
Sequence 
MERSQCGSRDRGVSGRPHLAPGLVVAAPPPPSPALPVPSGMQVPPAFLRPPSLFLRAAAA
AAAAAAATSGSGGCPPAPGLESGVGAVGCGYPRTPKCARCRNHGVVSALKGHKRFCRWRD
CACAKCTLIAERQRVMAAQVALRRQQAQEESEARGLQRLLCSGLSWPPGGRASGGGGRAE
NPQSTGGPAAGAALGLGALRQASGSATPAFEVFQQDYPEEKQEQKESKCESCQNGQEELI
SKSHQLYLGSSSRSNGVIGKQSIGSSISEYSNKPDSILSPHPGEQSGGEESPRSLSSSDL
ESGNESEWVKDLTATKASLPTVSSRPRDPLDILTKIFPNYRRSRLEGILRFCKGDVVQAI
EQVLNGKEHKPDNRNLANSEELENTAFQRASSFSLAGIGFGTLGNKSAFSPLQTTSASYG
GDSSLYGVNPRVGISPLRLAYSSAGRGLSGFMSPYLTPGLVPTLPFRPALDYAFSGMIRD
SSYLSSKDSITCGRLYFRPNQDNP
Sequence length 504
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease (indolent vs progressive) N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 27172220
Esophageal Squamous Cell Carcinoma Associate 37744275
Stomatitis Associate 25218607
Urinary Bladder Neoplasms Associate 27270441