DMRTB1 (DMRT like family B with proline rich C-terminal 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 63948
Gene name DMRT like family B with proline rich C-terminal 1
Gene symbol DMRTB1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p32.3
miRNA miRNA information provided by mirtarbase database.
24
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (24)
miRTarBase ID miRNA Experiments Reference
MIRT722302 hsa-miR-5580-3p HITS-CLIP 19536157
MIRT722301 hsa-miR-3146 HITS-CLIP 19536157
MIRT722300 hsa-miR-4714-3p HITS-CLIP 19536157
MIRT722299 hsa-miR-3162-3p HITS-CLIP 19536157
MIRT722298 hsa-miR-6734-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
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:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614805 13913 ENSG00000143006
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MA1
Protein name Doublesex- and mab-3-related transcription factor B1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00751 DM 7 → 53 DM DNA binding domain Family
Tissue specificity TISSUE SPECIFICITY: Testis. {ECO:0000269|PubMed:11863363}.
Sequence 
MADKMVRTPKCSRCRNHGFLVPVKGHAGKCRWKQCLCEKCYLISERQKIMAAQKVLKTQA
AEEEQEAALCAQGPKQASGAAAAAPAPVPVPAASLRPLSPGTPSGDADPGPEGRAAACFF
EQPPRGRNPGPRALQPVLGGRSHVEPSERAAVAMPSLAGPPFGAEAAGSGYPGPLDLRRP
MRTVPGPLFTDFVRPLNINPDRALGPEYPGGSSMHPYCPFPLGYLDAPPGVPLQQGFRHV
SRSQYQGGGLVSEPGGDFQPSYYLPPPPPPLPPLPPLPPQPQFLPPGYLSALHFLPPPPP
PPPPSSFSLTVLFDTDKENTDDQDAEVLSGEPSQPSSQEQSD
Sequence length 342
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Germ cell tumor Tumor BEFREE 30920770
★★★★★
★☆☆☆☆
Found in Text Mining only
Learning Disabilities Learning disorders Pubtator 29240611 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only