TBC1D21 (TBC1 domain family member 21)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 161514
• Gene name: TBC1 domain family member 21
• Gene symbol: TBC1D21
• Synonyms (NCBI Gene): MgcRabGAP
• Chromosome: 15
• Chromosome location: 15q24.1

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 620387
• HGNC: 28536
• e!Ensembl: 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:

  MTTLSPENSLSARQSASFILVKRKPPIDKTEWDSFFDESGHLAKSRDFICVNILERGLHP
  FVRTEAWKFLTGYFSWQSSQDERLTVDSMRRKNYKALCQMYEKIQPLLENLHRNFTETRN
  NIARDIQKIYDKDPLGNVLIDKKRLEKILLLSYVCNTQAEYQQGFHEMMMLFQLMVEHDH
  ETFWLFQFFLQKTEHSCVINIGVAKNLDMLSTLITFLDPVFAEHLKGKGAGAVQSLFPWF
  CFCFQRAFKSFDDVWRLWEVLLTGKPCRNFQVLVAYSMLQMVREQVLQESMGGDDILLAC
  NNLIDLDADELISAACVVYAELIQKDVPQTLKDFFL

• Sequence length: 336

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)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	34002096	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	34002096	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	29703844	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	34356046	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	29703844	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	38102678	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256, 37464041	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	31220337	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CDC123 2 shared diseasesDiabetic neuropathy, Myopathy 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), GWAS catalog (Myopathy) Related via 2 shared diseases including Diabetic neuropathy, Myopathy — evidence mostly GWAS catalog. LRP8 2 shared diseasesDiabetic neuropathy, Irritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Diabetic neuropathy, Irritable bowel syndrome — evidence mostly GWAS catalog. SHISA6 2 shared diseasesConotruncal cardiac defect, Irritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Conotruncal cardiac defect), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Conotruncal cardiac defect, Irritable bowel syndrome — evidence mostly GWAS catalog. C19orf81 1 shared diseaseDiabetic neuropathy 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Diabetic neuropathy) Related via 1 shared disease including Diabetic neuropathy — evidence mostly GWAS catalog. TMEM250 1 shared diseaseDiabetic neuropathy 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Diabetic neuropathy) Related via 1 shared disease including Diabetic neuropathy — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CDC123	2	["Diabetic neuropathy","Myopathy"]	0	[]	2	["GWAS catalog (Diabetic neuropathy)","GWAS catalog (Myopathy)"]
LRP8	2	["Diabetic neuropathy","Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Diabetic neuropathy)","GWAS catalog (Irritable bowel syndrome)"]
SHISA6	2	["Conotruncal cardiac defect","Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Conotruncal cardiac defect)","GWAS catalog (Irritable bowel syndrome)"]
C19orf81	1	["Diabetic neuropathy"]	0	[]	2	["GWAS catalog (Kidney disease)","GWAS catalog (Diabetic neuropathy)"]
TMEM250	1	["Diabetic neuropathy"]	0	[]	2	["GWAS catalog (Kidney disease)","GWAS catalog (Diabetic neuropathy)"]

Diseases Linked via Similar Genes

Coronary artery disease Linked via 2 of 5 related genesCDC123, LRP8 Myocardial infarction Linked via 2 of 5 related genesCDC123, LRP8 Stroke Linked via 2 of 5 related genesCDC123, SHISA6 Alzheimer disease Linked via 2 of 5 related genesLRP8, SHISA6 Schizophrenia Linked via 2 of 5 related genesLRP8, SHISA6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Coronary artery disease	2	["CDC123","LRP8"]
Myocardial infarction	2	["CDC123","LRP8"]
Stroke	2	["CDC123","SHISA6"]
Alzheimer disease	2	["LRP8","SHISA6"]
Schizophrenia	2	["LRP8","SHISA6"]