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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83874
Gene name	TBC1 domain family member 10A
Gene symbol	TBC1D10A
Synonyms (NCBI Gene)	EPI64TBC1D10dJ130H16.1dJ130H16.2
Chromosome	22
Chromosome location	22q12.2

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments
MIRT2345754	hsa-miR-3173-3p	CLIP-seq
MIRT2395527	hsa-miR-328	CLIP-seq
MIRT2395528	hsa-miR-3677-5p	CLIP-seq
MIRT2395529	hsa-miR-4435	CLIP-seq
MIRT2395530	hsa-miR-4453	CLIP-seq
MIRT2395531	hsa-miR-4514	CLIP-seq
MIRT2395532	hsa-miR-4538	CLIP-seq
MIRT2395533	hsa-miR-4645-5p	CLIP-seq
MIRT2395534	hsa-miR-4673	CLIP-seq
MIRT2395535	hsa-miR-4692	CLIP-seq
MIRT2395536	hsa-miR-4755-3p	CLIP-seq
MIRT2395531	hsa-miR-4514	CLIP-seq
MIRT2395535	hsa-miR-4692	CLIP-seq
MIRT2638733	hsa-miR-186	CLIP-seq
MIRT2638734	hsa-miR-24	CLIP-seq
MIRT2638735	hsa-miR-2467-5p	CLIP-seq
MIRT2638736	hsa-miR-3133	CLIP-seq
MIRT2345754	hsa-miR-3173-3p	CLIP-seq
MIRT2638737	hsa-miR-3607-3p	CLIP-seq
MIRT2638738	hsa-miR-3619-3p	CLIP-seq
MIRT2638739	hsa-miR-4252	CLIP-seq
MIRT2638740	hsa-miR-4269	CLIP-seq
MIRT2638741	hsa-miR-4428	CLIP-seq
MIRT2395531	hsa-miR-4514	CLIP-seq
MIRT2638742	hsa-miR-4535	CLIP-seq
MIRT2395533	hsa-miR-4645-5p	CLIP-seq
MIRT2395534	hsa-miR-4673	CLIP-seq
MIRT2395535	hsa-miR-4692	CLIP-seq
MIRT2638743	hsa-miR-4695-5p	CLIP-seq
MIRT2638744	hsa-miR-4742-5p	CLIP-seq
MIRT2638745	hsa-miR-4776-5p	CLIP-seq
MIRT2638733	hsa-miR-186	CLIP-seq
MIRT2638734	hsa-miR-24	CLIP-seq
MIRT2638735	hsa-miR-2467-5p	CLIP-seq
MIRT2638736	hsa-miR-3133	CLIP-seq
MIRT2345754	hsa-miR-3173-3p	CLIP-seq
MIRT2638737	hsa-miR-3607-3p	CLIP-seq
MIRT2638739	hsa-miR-4252	CLIP-seq
MIRT2638740	hsa-miR-4269	CLIP-seq
MIRT2638741	hsa-miR-4428	CLIP-seq
MIRT2395531	hsa-miR-4514	CLIP-seq
MIRT2395535	hsa-miR-4692	CLIP-seq
MIRT2638743	hsa-miR-4695-5p	CLIP-seq
MIRT2638744	hsa-miR-4742-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	30905672
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	11285285, 20937695, 21044950, 22354992, 25416956, 32296183, 33961781
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	17562788
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005902	Component	Microvillus	TAS	11285285
GO:0030165	Function	PDZ domain binding	IPI	11285285
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	17562788
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045862	Process	Positive regulation of proteolysis	IDA	18387192
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

MIM	HGNC	e!Ensembl
610020	23609	ENSG00000099992

Q9BXI6

Protein name

TBC1 domain family member 10A (EBP50-PDX interactor of 64 kDa) (EPI64 protein) (Rab27A-GAP-alpha)

Protein function

GTPase-activating protein (GAP) specific for RAB27A and RAB35 (PubMed:16923811, PubMed:30905672). Does not show GAP activity for RAB2A, RAB3A and RAB4A (PubMed:16923811).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00566	RabGAP-TBC	114 → 315	Rab-GTPase-TBC domain	Family

Sequence

MAKSNGENGPRAPAAGESLSGTRESLAQGPDAATTDELSSLGSDSEANGFAERRIDKFGF
IVGSQGAEGALEEVPLEVLRQRESKWLDMLNNWDKWMAKKHKKIRLRCQKGIPPSLRGRA
WQYLSGGKVKLQQNPGKFDELDMSPGDPKWLDVIERDLHRQFPFHEMFVSRGGHGQQDLF
RVLKAYTLYRPEEGYCQAQAPIAAVLLMHMPAEQAFWCLVQICEKYLPGYYSEKLEAIQL
DGEILFSLLQKVSPVAHKHLSRQKIDPLLYMTEWFMCAFSRTLPWSSVLRVWDMFFCEGV
KIIFRVGLVLLKHALGSPEKVKACQGQYETIERLRSLSPKIMQEAFLVQEVVELPVTERQ
IEREHLIQLRRWQETRGELQCRSPPRLHGAKAILDAEPGPRPALQPSPSIRLPLDAPLPG
SKAKPKPPKQAQKEQRKQMKGRGQLEKPPAPNQAMVVAAAGDACPPQHVPPKDSAPKDSA
PQDLAPQVSAHHRSQESLTSQESEDTYL

Sequence length

508

Interactions

View interactions

	Reactome
			TBC/RABGAPs

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)

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.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	30071094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30071094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30071094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30060175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D10A (TBC1 domain family member 10A)