Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	161514
Gene name	TBC1 domain family member 21
Gene symbol	TBC1D21
Synonyms (NCBI Gene)	MgcRabGAP
Chromosome	15
Chromosome location	15q24.1

Show/Hide all (64)

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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157
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
MIRT711106	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT711105	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT711104	hsa-miR-4469	HITS-CLIP	19536157

Show/Hide all (25)

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
GO:0005515	Function	Protein binding	IPI	28067790, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031267	Function	Small GTPase binding	IMP	16923123
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0048227	Process	Plasma membrane to endosome transport	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097225	Component	Sperm midpiece	IEA
GO:0097225	Component	Sperm midpiece	ISS
GO:0120317	Process	Sperm mitochondrial sheath assembly	IEA
GO:0120317	Process	Sperm mitochondrial sheath assembly	ISS
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

MIM	HGNC	e!Ensembl
620387	28536	ENSG00000167139

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

MTTLSPENSLSARQSASFILVKRKPPIDKTEWDSFFDESGHLAKSRDFICVNILERGLHP
FVRTEAWKFLTGYFSWQSSQDERLTVDSMRRKNYKALCQMYEKIQPLLENLHRNFTETRN
NIARDIQKIYDKDPLGNVLIDKKRLEKILLLSYVCNTQAEYQQGFHEMMMLFQLMVEHDH
ETFWLFQFFLQKTEHSCVINIGVAKNLDMLSTLITFLDPVFAEHLKGKGAGAVQSLFPWF
CFCFQRAFKSFDDVWRLWEVLLTGKPCRNFQVLVAYSMLQMVREQVLQESMGGDDILLAC
NNLIDLDADELISAACVVYAELIQKDVPQTLKDFFL

Sequence length

336

Interactions

View interactions

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 (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	24938310	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	GWASDB_DG	24938310	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	GWASCAT_DG	24938310	★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D21 (TBC1 domain family member 21)