Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161514
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 21
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D21
Synonyms (NCBI Gene) Gene synonyms aliases
MgcRabGAP
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT711111 hsa-miR-508-5p HITS-CLIP 19536157
MIRT711110 hsa-miR-371b-3p HITS-CLIP 19536157
MIRT711109 hsa-miR-483-3p HITS-CLIP 19536157
MIRT711108 hsa-miR-1825 HITS-CLIP 19536157
MIRT711107 hsa-miR-199a-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0003779 Function Actin binding IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 28067790
GO:0005096 Function GTPase activator activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
620387 28536 ENSG00000167139
Protein
UniProt ID Q8IYX1
Protein name TBC1 domain family member 21 (Male germ cell Rab GTPase-activating protein)
Protein function Acts as a GTPase-activating protein for Rab family protein(s) (PubMed:19077034, PubMed:28067790). Essential for the establishment of male fertility, and is required for both the production of normal sperm number and sperm function (By similarity
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 60 287 Rab-GTPase-TBC domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in round and elongated spermatids (at protein level). Expressed specifically in adult testis and very weakly in fetal brain. {ECO:0000269|PubMed:21128978, ECO:0000269|PubMed:33536340}.
Sequence
Sequence length 336
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)
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
Bipolar Disorder Bipolar I disorder N/A N/A GWAS
Diabetes End-stage renal disease in type 2 diabetes, Diabetic kidney disease in type 2 diabetes (ESRD vs. no ESRD) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Exfoliation Syndrome Associate 24938310