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	11138
Gene name	TBC1 domain family member 8
Gene symbol	TBC1D8
Synonyms (NCBI Gene)	AD3GRAMD8HBLP1TBC1D8AVRP
Chromosome	2
Chromosome location	2q11.2

184

Show/Hide all (184)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019002	hsa-miR-335-5p	Microarray	18185580
MIRT553755	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT553754	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT553753	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT553752	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT553751	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT553750	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT553749	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	21572407
MIRT553748	hsa-miR-3681-5p	PAR-CLIP	21572407
MIRT553747	hsa-miR-6849-5p	PAR-CLIP	21572407
MIRT553746	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT553745	hsa-miR-4287	PAR-CLIP	21572407
MIRT553744	hsa-miR-4685-3p	PAR-CLIP	21572407
MIRT445540	hsa-miR-4635	PAR-CLIP	21572407
MIRT445544	hsa-miR-3609	PAR-CLIP	22100165
MIRT445543	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445540	hsa-miR-4635	PAR-CLIP	22100165
MIRT445541	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445539	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT445544	hsa-miR-3609	PAR-CLIP	22100165
MIRT445543	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445540	hsa-miR-4635	PAR-CLIP	22100165
MIRT445541	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445539	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT553755	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT553754	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT553753	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT553752	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT553751	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT553750	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT553749	hsa-miR-7849-3p	PAR-CLIP	21572407
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	21572407
MIRT553748	hsa-miR-3681-5p	PAR-CLIP	21572407
MIRT553747	hsa-miR-6849-5p	PAR-CLIP	21572407
MIRT553746	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT553745	hsa-miR-4287	PAR-CLIP	21572407
MIRT553744	hsa-miR-4685-3p	PAR-CLIP	21572407
MIRT445540	hsa-miR-4635	PAR-CLIP	21572407
MIRT445544	hsa-miR-3609	PAR-CLIP	22100165
MIRT445543	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445540	hsa-miR-4635	PAR-CLIP	22100165
MIRT445541	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445539	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT445544	hsa-miR-3609	PAR-CLIP	22100165
MIRT445543	hsa-miR-548ah-5p	PAR-CLIP	22100165
MIRT445542	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445540	hsa-miR-4635	PAR-CLIP	22100165
MIRT445541	hsa-miR-145-3p	PAR-CLIP	22100165
MIRT445539	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT1413697	hsa-miR-106a	CLIP-seq
MIRT1413698	hsa-miR-106b	CLIP-seq
MIRT1413699	hsa-miR-142-5p	CLIP-seq
MIRT1413700	hsa-miR-153	CLIP-seq
MIRT1413701	hsa-miR-15a	CLIP-seq
MIRT1413702	hsa-miR-15b	CLIP-seq
MIRT1413703	hsa-miR-16	CLIP-seq
MIRT1413704	hsa-miR-17	CLIP-seq
MIRT1413705	hsa-miR-1825	CLIP-seq
MIRT1413706	hsa-miR-195	CLIP-seq
MIRT1413707	hsa-miR-199a-5p	CLIP-seq
MIRT1413708	hsa-miR-199b-5p	CLIP-seq
MIRT1413709	hsa-miR-20a	CLIP-seq
MIRT1413710	hsa-miR-20b	CLIP-seq
MIRT1413711	hsa-miR-25	CLIP-seq
MIRT1413712	hsa-miR-3165	CLIP-seq
MIRT1413713	hsa-miR-32	CLIP-seq
MIRT1413714	hsa-miR-340	CLIP-seq
MIRT1413715	hsa-miR-363	CLIP-seq
MIRT1413716	hsa-miR-367	CLIP-seq
MIRT1413717	hsa-miR-3925-3p	CLIP-seq
MIRT1413718	hsa-miR-424	CLIP-seq
MIRT1413719	hsa-miR-4302	CLIP-seq
MIRT1413720	hsa-miR-4524	CLIP-seq
MIRT1413721	hsa-miR-4666-3p	CLIP-seq
MIRT1413722	hsa-miR-4796-3p	CLIP-seq
MIRT1413723	hsa-miR-488	CLIP-seq
MIRT1413724	hsa-miR-497	CLIP-seq
MIRT1413725	hsa-miR-503	CLIP-seq
MIRT1413726	hsa-miR-508-5p	CLIP-seq
MIRT1413727	hsa-miR-517a	CLIP-seq
MIRT1413728	hsa-miR-517c	CLIP-seq
MIRT1413729	hsa-miR-519d	CLIP-seq
MIRT1413730	hsa-miR-548ah	CLIP-seq
MIRT1413731	hsa-miR-646	CLIP-seq
MIRT1413732	hsa-miR-648	CLIP-seq
MIRT1413733	hsa-miR-9	CLIP-seq
MIRT1413734	hsa-miR-92a	CLIP-seq
MIRT1413735	hsa-miR-92b	CLIP-seq
MIRT1413736	hsa-miR-93	CLIP-seq
MIRT2346481	hsa-miR-130a	CLIP-seq
MIRT2346482	hsa-miR-130b	CLIP-seq
MIRT2346483	hsa-miR-148a	CLIP-seq
MIRT2346484	hsa-miR-148b	CLIP-seq
MIRT2346485	hsa-miR-152	CLIP-seq
MIRT2346486	hsa-miR-19a	CLIP-seq
MIRT2346487	hsa-miR-19b	CLIP-seq
MIRT1413711	hsa-miR-25	CLIP-seq
MIRT2346488	hsa-miR-301a	CLIP-seq
MIRT2346489	hsa-miR-301b	CLIP-seq
MIRT1413713	hsa-miR-32	CLIP-seq
MIRT2346490	hsa-miR-3613-3p	CLIP-seq
MIRT1413715	hsa-miR-363	CLIP-seq
MIRT2346491	hsa-miR-3666	CLIP-seq
MIRT1413716	hsa-miR-367	CLIP-seq
MIRT2346492	hsa-miR-382	CLIP-seq
MIRT2346493	hsa-miR-4295	CLIP-seq
MIRT2346494	hsa-miR-454	CLIP-seq
MIRT2346495	hsa-miR-4642	CLIP-seq
MIRT1413721	hsa-miR-4666-3p	CLIP-seq
MIRT2346496	hsa-miR-4704-5p	CLIP-seq
MIRT2346497	hsa-miR-4715-5p	CLIP-seq
MIRT2346498	hsa-miR-494	CLIP-seq
MIRT1413734	hsa-miR-92a	CLIP-seq
MIRT1413735	hsa-miR-92b	CLIP-seq
MIRT2395555	hsa-miR-3977	CLIP-seq
MIRT2395556	hsa-miR-578	CLIP-seq
MIRT2461182	hsa-miR-1273e	CLIP-seq
MIRT2461183	hsa-miR-296-3p	CLIP-seq
MIRT2461184	hsa-miR-3189-5p	CLIP-seq
MIRT2461185	hsa-miR-331-3p	CLIP-seq
MIRT2461186	hsa-miR-376c	CLIP-seq
MIRT2461187	hsa-miR-4662a-5p	CLIP-seq
MIRT2461188	hsa-miR-4676-5p	CLIP-seq
MIRT2461189	hsa-miR-4701-5p	CLIP-seq
MIRT2461190	hsa-miR-4758-3p	CLIP-seq
MIRT2461191	hsa-miR-513c	CLIP-seq
MIRT2461192	hsa-miR-514b-5p	CLIP-seq
MIRT2461193	hsa-miR-575	CLIP-seq
MIRT2461194	hsa-miR-588	CLIP-seq
MIRT2461195	hsa-miR-592	CLIP-seq
MIRT2461196	hsa-miR-599	CLIP-seq
MIRT2461182	hsa-miR-1273e	CLIP-seq
MIRT2639104	hsa-miR-132	CLIP-seq
MIRT2639105	hsa-miR-151-3p	CLIP-seq
MIRT2639106	hsa-miR-212	CLIP-seq
MIRT2461183	hsa-miR-296-3p	CLIP-seq
MIRT1413712	hsa-miR-3165	CLIP-seq
MIRT2461184	hsa-miR-3189-5p	CLIP-seq
MIRT2461185	hsa-miR-331-3p	CLIP-seq
MIRT2639107	hsa-miR-3529	CLIP-seq
MIRT2461186	hsa-miR-376c	CLIP-seq
MIRT2639108	hsa-miR-379	CLIP-seq
MIRT2639109	hsa-miR-3927	CLIP-seq
MIRT2639110	hsa-miR-4463	CLIP-seq
MIRT2639111	hsa-miR-4499	CLIP-seq
MIRT2461187	hsa-miR-4662a-5p	CLIP-seq
MIRT2461188	hsa-miR-4676-5p	CLIP-seq
MIRT2461189	hsa-miR-4701-5p	CLIP-seq
MIRT2461190	hsa-miR-4758-3p	CLIP-seq
MIRT1413726	hsa-miR-508-5p	CLIP-seq
MIRT2461191	hsa-miR-513c	CLIP-seq
MIRT2461192	hsa-miR-514b-5p	CLIP-seq
MIRT1413727	hsa-miR-517a	CLIP-seq
MIRT1413728	hsa-miR-517c	CLIP-seq
MIRT2639112	hsa-miR-548ag	CLIP-seq
MIRT2639113	hsa-miR-548ai	CLIP-seq
MIRT2461193	hsa-miR-575	CLIP-seq
MIRT2461194	hsa-miR-588	CLIP-seq
MIRT2461195	hsa-miR-592	CLIP-seq
MIRT2461196	hsa-miR-599	CLIP-seq
MIRT2639114	hsa-miR-622	CLIP-seq
MIRT1413733	hsa-miR-9	CLIP-seq
MIRT2461182	hsa-miR-1273e	CLIP-seq
MIRT2461183	hsa-miR-296-3p	CLIP-seq
MIRT1413712	hsa-miR-3165	CLIP-seq
MIRT2461185	hsa-miR-331-3p	CLIP-seq
MIRT2461186	hsa-miR-376c	CLIP-seq
MIRT2461187	hsa-miR-4662a-5p	CLIP-seq
MIRT2461188	hsa-miR-4676-5p	CLIP-seq
MIRT2461189	hsa-miR-4701-5p	CLIP-seq
MIRT1413726	hsa-miR-508-5p	CLIP-seq
MIRT2461191	hsa-miR-513c	CLIP-seq
MIRT2461192	hsa-miR-514b-5p	CLIP-seq
MIRT1413727	hsa-miR-517a	CLIP-seq
MIRT1413728	hsa-miR-517c	CLIP-seq
MIRT2461193	hsa-miR-575	CLIP-seq
MIRT2461194	hsa-miR-588	CLIP-seq
MIRT2461195	hsa-miR-592	CLIP-seq
MIRT2461196	hsa-miR-599	CLIP-seq
MIRT1413733	hsa-miR-9	CLIP-seq

Show/Hide all (8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003008	Process	System process	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0008015	Process	Blood circulation	TAS	10373574
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	10373574
GO:0016020	Component	Membrane	TAS	10373574
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

O95759

Protein name

TBC1 domain family member 8 (AD 3) (Vascular Rab-GAP/TBC-containing protein)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02893	GRAM	145 → 252	GRAM domain	Domain
PF02893	GRAM	285 → 396	GRAM domain	Domain
PF00566	RabGAP-TBC	508 → 712	Rab-GTPase-TBC domain	Family

Sequence

MWLKPEEVLLKNALKLWVTQKSSCYFILQRRRGHGEGGGRLTGRLVGALDAVLDSNARVA
PFRILLQVPGSQVYSPIACGATLEEINQHWDWLEQNLLHTLSVFDNKDDIASFVKGKVKA
LIAEETSSRLAEQEEEPEKFREALVKFEARFNFPEAEKLVTYYSCCCWKGRVPRQGWLYL
SINHLCFYSFFLGKELKLVVPWVDIQKLERTSNVFLTDTIRITTQNKERDFSMFLNLDEV
FKVMEQLADVTLRRLLDNEVFDLDPDLQEPSQITKRDLEARAQNEFFRAFFRLPRKEKLH
AVVDCSLWTPFSRCHTTGRMFASDSYICFASREDGCCKIILPLREVVSIEKMEDTSLLPH
PIIVSIRSKVAFQFIELRDRDSLVEALLARLKQVHANHPVHYDTSADDDMASLVFHSTSM
CSDHRFGDLEMMSSQNSEESEKEKSPLMHPDALVTAFQQSGSQSPDSRMSREQIKISLWN
DHFVEYGRTVCMFRTEKIRKLVAMGIPESLRGRLWLLFSDAVTDLASHPGYYGNLVEESL
GKCCLVTEEIERDLHRSLPEHPAFQNETGIAALRRVLTAYAHRNPKIGYCQSMNILTSVL
LLYTKEEEAFWLLVAVCERMLPDYFNHRVIGAQVDQSVFEELIKGHLPELAEHMNDLSAL
ASVSLSWFLTLFLSIMPLESAVNVVDCFFYDGIKAIFQLGLAVLEANAEDLCSSKDDGQA
LMILSRFLDHIKNEDSPGPPVGSHHAFFSDDQEPYPVTDISDLIRDSYEKFGDQSVEQIE
HLRYKHRIRVLQGHEDTTKQNVLRVVIPEVSILPEDLEELYDLFKREHMMSCYWEQPRPM
ASRHDPSRPYAEQYRIDARQFAHLFQLVSPWTCGAHTEILAERTFRLLDDNMDQLIEFKA
FVSCLDIMYNGEMNEKIKLLYRLHIPPALTENDRDSQSPLRNPLLSTSRPLVFGKPNGDA
VDYQKQLKQMIKDLAKEKDKTEKELPKMSQREFIQFCKTLYSMFHEDPEENDLYQAIATV
TTLLLQIGEVGQRGSSSGSCSQECGEELRASAPSPEDSVFADTGKTPQDSQAFPEAAERD
WTVSLEHILASLLTEQSLVNFFEKPLDMKSKLENAKINQYNLKTFEMSHQSQSELKLSNL

Sequence length

1140

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 (8)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	35918393	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	35918393	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Associate	35248088	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	35248088	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	35918393	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Associate	15722597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	28369098	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Associate	21347333	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	29318656	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Associate	33635380	★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D8 (TBC1 domain family member 8)