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	25771
Gene name	TBC1 domain family member 22A
Gene symbol	TBC1D22A
Synonyms (NCBI Gene)	C22orf4HSC79E021
Chromosome	22
Chromosome location	22q13.31

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041734	hsa-miR-484	CLASH	23622248
MIRT038218	hsa-miR-342-5p	CLASH	23622248
MIRT663606	hsa-miR-8485	HITS-CLIP	23824327
MIRT663605	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT663604	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT663603	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT663602	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT663606	hsa-miR-8485	HITS-CLIP	23824327
MIRT663605	hsa-miR-499a-3p	HITS-CLIP	23824327
MIRT663604	hsa-miR-499b-3p	HITS-CLIP	23824327
MIRT663603	hsa-miR-532-5p	HITS-CLIP	23824327
MIRT663602	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT1412715	hsa-miR-3545-5p	CLIP-seq
MIRT1412716	hsa-miR-3618	CLIP-seq
MIRT1412717	hsa-miR-4330	CLIP-seq
MIRT1412718	hsa-miR-4433	CLIP-seq
MIRT1412719	hsa-miR-4436b-3p	CLIP-seq
MIRT1412720	hsa-miR-4685-5p	CLIP-seq
MIRT1412721	hsa-miR-4722-5p	CLIP-seq
MIRT1412722	hsa-miR-4777-5p	CLIP-seq
MIRT1412723	hsa-miR-570	CLIP-seq
MIRT1412724	hsa-miR-601	CLIP-seq
MIRT1412725	hsa-miR-934	CLIP-seq
MIRT2123952	hsa-miR-339-5p	CLIP-seq
MIRT2123953	hsa-miR-4421	CLIP-seq
MIRT2123954	hsa-miR-511	CLIP-seq
MIRT2346014	hsa-miR-1207-5p	CLIP-seq
MIRT2346015	hsa-miR-1909	CLIP-seq
MIRT2346016	hsa-miR-4419a	CLIP-seq
MIRT2346017	hsa-miR-4510	CLIP-seq
MIRT2346018	hsa-miR-4763-3p	CLIP-seq
MIRT2638870	hsa-miR-297	CLIP-seq
MIRT2638871	hsa-miR-499-3p	CLIP-seq
MIRT2638872	hsa-miR-567	CLIP-seq
MIRT2638870	hsa-miR-297	CLIP-seq
MIRT2638871	hsa-miR-499-3p	CLIP-seq
MIRT2638872	hsa-miR-567	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	23572552, 32814053, 33961781
GO:0005794	Component	Golgi apparatus	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	18186464
GO:0071889	Function	14-3-3 protein binding	IDA	23572552
GO:0071889	Function	14-3-3 protein binding	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

MIM	HGNC	e!Ensembl
616879	1309	ENSG00000054611

Q8WUA7

Protein name

TBC1 domain family member 22A

Protein function

May act as a GTPase-activating protein for Rab family protein(s).

PDB

2QFZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00566	RabGAP-TBC	225 → 469	Rab-GTPase-TBC domain	Family

Sequence

MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVST
FQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQGRPTLQEGPGL
QQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTS
DPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLP
ANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTE
IFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIE
ADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFR
WMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLF
LQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK

Sequence length

517

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 (3)

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.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	BEFREE	29430824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22326833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37958793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	24067191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31484569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37958793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23526746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28272301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29430824		★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D22A (TBC1 domain family member 22A)