Gene Gene information from NCBI Gene database.
Entrez ID 11144
Gene name DNA meiotic recombinase 1
Gene symbol DMC1
Synonyms (NCBI Gene)
DMC1HLIM15dJ199H16.1
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is rep
miRNA miRNA information provided by mirtarbase database.
262
miRTarBase ID miRNA Experiments Reference
MIRT939068 hsa-miR-106a CLIP-seq
MIRT939069 hsa-miR-106b CLIP-seq
MIRT939070 hsa-miR-1234 CLIP-seq
MIRT939071 hsa-miR-1245 CLIP-seq
MIRT939072 hsa-miR-1267 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BRCA2 Unknown 17541404
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000150 Function DNA strand exchange activity IBA
GO:0000150 Function DNA strand exchange activity IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000730 Process DNA recombinase assembly IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602721 2927 ENSG00000100206
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14565
Protein name Meiotic recombination protein DMC1/LIM15 homolog
Protein function Participates in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks.
PDB 1V5W , 2ZJB , 4HYY , 6R3P , 7C98 , 7C99 , 7C9C , 7CGY , 8QQE , 8R2G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08423 Rad51 83 338 Rad51 Domain
Sequence
Sequence length 340
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azoospermia Pathogenic rs2145963298, rs2145771075 RCV001797567
RCV001797568
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2227914 RCV005909257
Cervical cancer Benign rs2227914 RCV005909258
Clear cell carcinoma of kidney Benign rs2227914 RCV005909259
Premature ovarian failure Benign rs2227914 RCV001258296
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 35172124
Infections Associate 20084279
Neoplasms Associate 25971253
Urethral Neoplasms Associate 25971253
Uterine Cervical Dysplasia Associate 20084279