Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	54885
Gene name	TBC1 domain family member 8B
Gene symbol	TBC1D8B
Synonyms (NCBI Gene)	GRAMD8BNPHS20
Chromosome	X
Chromosome location	Xq22.3
Summary	This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in mul

SNP ID	Visualize variation	Clinical significance	Consequence
rs761410195	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1602413491	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

167 Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018774	hsa-miR-335-5p	Microarray	18185580
MIRT020982	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT044147	hsa-miR-30e-5p	CLASH	23622248
MIRT446312	hsa-miR-4635	PAR-CLIP	22100165
MIRT446311	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446310	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446309	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446312	hsa-miR-4635	PAR-CLIP	22100165
MIRT446311	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446310	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446309	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446312	hsa-miR-4635	PAR-CLIP	22100165
MIRT446311	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446310	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446309	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT446312	hsa-miR-4635	PAR-CLIP	22100165
MIRT446311	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446310	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT446309	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT1413737	hsa-miR-3127-5p	CLIP-seq
MIRT1413738	hsa-miR-4270	CLIP-seq
MIRT1413739	hsa-miR-4441	CLIP-seq
MIRT1413740	hsa-miR-889	CLIP-seq
MIRT2124142	hsa-miR-128	CLIP-seq
MIRT2124143	hsa-miR-129-3p	CLIP-seq
MIRT2124144	hsa-miR-27a	CLIP-seq
MIRT2124145	hsa-miR-27b	CLIP-seq
MIRT2124146	hsa-miR-3681	CLIP-seq
MIRT2124147	hsa-miR-375	CLIP-seq
MIRT2124148	hsa-miR-3929	CLIP-seq
MIRT2124149	hsa-miR-4320	CLIP-seq
MIRT2124150	hsa-miR-4330	CLIP-seq
MIRT2124151	hsa-miR-4419b	CLIP-seq
MIRT2124152	hsa-miR-4478	CLIP-seq
MIRT2124153	hsa-miR-4687-5p	CLIP-seq
MIRT2124154	hsa-miR-513a-5p	CLIP-seq
MIRT2346499	hsa-miR-106a	CLIP-seq
MIRT2346500	hsa-miR-106b	CLIP-seq
MIRT2124143	hsa-miR-129-3p	CLIP-seq
MIRT2346501	hsa-miR-129-5p	CLIP-seq
MIRT2346502	hsa-miR-17	CLIP-seq
MIRT2346503	hsa-miR-20a	CLIP-seq
MIRT2346504	hsa-miR-20b	CLIP-seq
MIRT2346505	hsa-miR-302a	CLIP-seq
MIRT2346506	hsa-miR-302b	CLIP-seq
MIRT2346507	hsa-miR-302c	CLIP-seq
MIRT2346508	hsa-miR-302d	CLIP-seq
MIRT2346509	hsa-miR-302e	CLIP-seq
MIRT2346510	hsa-miR-372	CLIP-seq
MIRT2346511	hsa-miR-373	CLIP-seq
MIRT2124148	hsa-miR-3929	CLIP-seq
MIRT2124150	hsa-miR-4330	CLIP-seq
MIRT2124151	hsa-miR-4419b	CLIP-seq
MIRT2124152	hsa-miR-4478	CLIP-seq
MIRT2124153	hsa-miR-4687-5p	CLIP-seq
MIRT2346512	hsa-miR-488	CLIP-seq
MIRT2346513	hsa-miR-495	CLIP-seq
MIRT2346514	hsa-miR-519d	CLIP-seq
MIRT2346515	hsa-miR-520a-3p	CLIP-seq
MIRT2346516	hsa-miR-520b	CLIP-seq
MIRT2346517	hsa-miR-520c-3p	CLIP-seq
MIRT2346518	hsa-miR-520d-3p	CLIP-seq
MIRT2346519	hsa-miR-520e	CLIP-seq
MIRT2346520	hsa-miR-628-3p	CLIP-seq
MIRT2346521	hsa-miR-93	CLIP-seq
MIRT2461197	hsa-miR-1284	CLIP-seq
MIRT2461198	hsa-miR-582-5p	CLIP-seq
MIRT2639115	hsa-miR-1245	CLIP-seq
MIRT2639116	hsa-miR-1261	CLIP-seq
MIRT2639117	hsa-miR-140-3p	CLIP-seq
MIRT2639118	hsa-miR-142-5p	CLIP-seq
MIRT2639119	hsa-miR-2964a-5p	CLIP-seq
MIRT2639120	hsa-miR-3121-3p	CLIP-seq
MIRT2639121	hsa-miR-3177-5p	CLIP-seq
MIRT2639122	hsa-miR-338-5p	CLIP-seq
MIRT2639123	hsa-miR-3591-3p	CLIP-seq
MIRT2639124	hsa-miR-371-3p	CLIP-seq
MIRT2639125	hsa-miR-371b-3p	CLIP-seq
MIRT2639126	hsa-miR-380	CLIP-seq
MIRT2639127	hsa-miR-3941	CLIP-seq
MIRT2639128	hsa-miR-4291	CLIP-seq
MIRT2639129	hsa-miR-4312	CLIP-seq
MIRT2639130	hsa-miR-4495	CLIP-seq
MIRT2639131	hsa-miR-4519	CLIP-seq
MIRT2639132	hsa-miR-4643	CLIP-seq
MIRT2639133	hsa-miR-466	CLIP-seq
MIRT2639134	hsa-miR-4666-5p	CLIP-seq
MIRT2639135	hsa-miR-4672	CLIP-seq
MIRT2639136	hsa-miR-4711-3p	CLIP-seq
MIRT2639137	hsa-miR-4760-3p	CLIP-seq
MIRT2639138	hsa-miR-4777-5p	CLIP-seq
MIRT2639139	hsa-miR-4789-3p	CLIP-seq
MIRT2639140	hsa-miR-4799-5p	CLIP-seq
MIRT2639141	hsa-miR-511	CLIP-seq
MIRT2639142	hsa-miR-515-3p	CLIP-seq
MIRT2639143	hsa-miR-518d-5p	CLIP-seq
MIRT2639144	hsa-miR-519b-5p	CLIP-seq
MIRT2639145	hsa-miR-519c-5p	CLIP-seq
MIRT2639146	hsa-miR-519e	CLIP-seq
MIRT2639147	hsa-miR-520c-5p	CLIP-seq
MIRT2639148	hsa-miR-520g	CLIP-seq
MIRT2639149	hsa-miR-520h	CLIP-seq
MIRT2639150	hsa-miR-526a	CLIP-seq
MIRT2639151	hsa-miR-545	CLIP-seq
MIRT2639152	hsa-miR-548a-5p	CLIP-seq
MIRT2639153	hsa-miR-548ab	CLIP-seq
MIRT2639154	hsa-miR-548ak	CLIP-seq
MIRT2639155	hsa-miR-548b-5p	CLIP-seq
MIRT2639156	hsa-miR-548c-5p	CLIP-seq
MIRT2639157	hsa-miR-548d-5p	CLIP-seq
MIRT2639158	hsa-miR-548h	CLIP-seq
MIRT2639159	hsa-miR-548i	CLIP-seq
MIRT2639160	hsa-miR-548j	CLIP-seq
MIRT2639161	hsa-miR-548k	CLIP-seq
MIRT2639162	hsa-miR-548l	CLIP-seq
MIRT2639163	hsa-miR-548w	CLIP-seq
MIRT2639164	hsa-miR-548y	CLIP-seq
MIRT2639165	hsa-miR-559	CLIP-seq
MIRT2639166	hsa-miR-568	CLIP-seq
MIRT2639167	hsa-miR-595	CLIP-seq
MIRT2639168	hsa-miR-643	CLIP-seq
MIRT2639115	hsa-miR-1245	CLIP-seq
MIRT2692694	hsa-miR-1305	CLIP-seq
MIRT2639117	hsa-miR-140-3p	CLIP-seq
MIRT2692695	hsa-miR-25	CLIP-seq
MIRT2639119	hsa-miR-2964a-5p	CLIP-seq
MIRT2692696	hsa-miR-3171	CLIP-seq
MIRT2639121	hsa-miR-3177-5p	CLIP-seq
MIRT2692697	hsa-miR-32	CLIP-seq
MIRT2639122	hsa-miR-338-5p	CLIP-seq
MIRT2639123	hsa-miR-3591-3p	CLIP-seq
MIRT2692698	hsa-miR-363	CLIP-seq
MIRT2692699	hsa-miR-367	CLIP-seq
MIRT2692700	hsa-miR-369-3p	CLIP-seq
MIRT2639124	hsa-miR-371-3p	CLIP-seq
MIRT2639125	hsa-miR-371b-3p	CLIP-seq
MIRT2692701	hsa-miR-374a	CLIP-seq
MIRT2692702	hsa-miR-374b	CLIP-seq
MIRT2639126	hsa-miR-380	CLIP-seq
MIRT2639128	hsa-miR-4291	CLIP-seq
MIRT2639129	hsa-miR-4312	CLIP-seq
MIRT2692703	hsa-miR-4317	CLIP-seq
MIRT2639130	hsa-miR-4495	CLIP-seq
MIRT2639131	hsa-miR-4519	CLIP-seq
MIRT2639134	hsa-miR-4666-5p	CLIP-seq
MIRT2692704	hsa-miR-4698	CLIP-seq
MIRT2639136	hsa-miR-4711-3p	CLIP-seq
MIRT2639137	hsa-miR-4760-3p	CLIP-seq
MIRT2639138	hsa-miR-4777-5p	CLIP-seq
MIRT2639141	hsa-miR-511	CLIP-seq
MIRT2639142	hsa-miR-515-3p	CLIP-seq
MIRT2639143	hsa-miR-518d-5p	CLIP-seq
MIRT2639144	hsa-miR-519b-5p	CLIP-seq
MIRT2639145	hsa-miR-519c-5p	CLIP-seq
MIRT2639146	hsa-miR-519e	CLIP-seq
MIRT2639147	hsa-miR-520c-5p	CLIP-seq
MIRT2639148	hsa-miR-520g	CLIP-seq
MIRT2639149	hsa-miR-520h	CLIP-seq
MIRT2639150	hsa-miR-526a	CLIP-seq
MIRT2639151	hsa-miR-545	CLIP-seq
MIRT2639166	hsa-miR-568	CLIP-seq
MIRT2639167	hsa-miR-595	CLIP-seq
MIRT2692705	hsa-miR-607	CLIP-seq
MIRT2692706	hsa-miR-633	CLIP-seq
MIRT2639168	hsa-miR-643	CLIP-seq
MIRT2692707	hsa-miR-92a	CLIP-seq
MIRT2692708	hsa-miR-92b	CLIP-seq

12 Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003094	Process	Glomerular filtration	IBA
GO:0003094	Process	Glomerular filtration	IEA
GO:0003094	Process	Glomerular filtration	IMP	30661770
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	30661770
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	30661770
GO:0005829	Component	Cytosol	IEA
GO:0016192	Process	Vesicle-mediated transport	IMP	30661770

MIM	HGNC	e!Ensembl
301027	24715	ENSG00000133138

Q0IIM8

Protein name

TBC1 domain family member 8B

Protein function

Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00566	RabGAP-TBC	490 → 694	Rab-GTPase-TBC domain	Family
PF02893	GRAM	145 → 253	GRAM domain	Domain
PF02893	GRAM	285 → 385	GRAM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney (at protein level). {ECO:0000269|PubMed:30661770}.

Sequence

MWLKPEEVLLKNALKLWLMERSNDYFVLQRRRGYGEEGGGGLTGLLVGTLDSVLDSTAKV
APFRILHQTPDSQVYLSIACGANREEITKHWDWLEQNIMKTLSVFDSNEDITNFVQGKIR
GLIAEEGKHCFAKEDDPEKFREALLKFEKCFGLPEKEKLVTYYSCSYWKGRVPCQGWLYL
STNFLSFYSFLLGSEIKLIISWDEVSKLEKTSNVILTESIHVCSQGENHYFSMFLHINQT
YLLMEQLANYAIRRLFDKETFDNDPVLYNPLQITKRGLENRAHSEQFNAFFRLPKGESLK
EVHECFLWVPFSHFNTHGKMCISENYICFASQDGNQCSVIIPLREVLAIDKTNDSSKSVI
ISIKGKTAFRFHEVKDFEQLVAKLRLRCGAASTQYHDISTELAISSESTEPSDNFEVQSL
TSQRECSKTVNTEALMTVFHPQNLETLNSKMLKEKMKEQSWKILFAECGRGVSMFRTKKT
RDLVVRGIPETLRGELWMLFSGAVNDMATNPDYYTEVVEQSLGTCNLATEEIERDLRRSL
PEHPAFQSDTGISALRRVLTAYAYRNPKIGYCQAMNILTSVLLLYAKEEEAFWLLVAVCE
RMLPDYFNRRIIGALVDQAVFEELIRDHLPQLTEHMTDMTFFSSVSLSWFLTLFISVLPI
ESAVNVVDCFFYDGIKAILQLGLAILDYNLDKLLTCKDDAEAVTALNRFFDNVTNKDSPL
PSNVQQGSNVSDEKTSHTRVDITDLIRESNEKYGNIRYEDIHSMRCRNRLYVIQTLEETT
KQNVLRVVSQDVKLSLQELDELYVIFKKELFLSCYWCLGCPVLKHHDPSLPYLEQYQIDC
QQFRALYHLLSPWAHSANKDSLALWTFRLLDENSDCLINFKEFSSAIDIMYNGSFTEKLK
LLFKLHIPPAYTEVKSKDASKGDELSKEELLYFSQLHVSKPANEKEAESAKHSPEKGKGK
IDIQAYLSQWQDELFKKEENIKDLPRMNQSQFIQFSKTLYNLFHEDPEEESLYQAIAVVT
SLLLRMEEVGRKLHSPTSSAKGFSGTVCGSGGPSEEKTGSHLEKDPCSFREEPQWSFAFE
QILASLLNEPALVRFFEKPIDVKAKLENARISQLRSRTKM

Sequence length

1120

Interactions

View interactions

Reactome Pathway
Golgi Associated Vesicle Biogenesis

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nephrotic syndrome, type 20	Pathogenic; Likely pathogenic	rs1363652416, rs748413985, rs772540800, rs775623397, rs761410195, rs1602413491	RCV001312057 RCV001312058 RCV001312059 RCV003991343 RCV000787301 RCV000787302 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (14)
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	CTD	30661770	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	30661770	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	36736436	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBC1D8B-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Chronic kidney disease stage 5	Kidney Disease	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30661770	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	30661770	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30661770	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	30661770	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	30661770	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	GENOMICS_ENGLAND_DG	30661770	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
EMP2	4	["Idiopathic steroid-resistant nephrotic syndrome","Genetic steroid-resistant nephrotic syndrome","Hereditary steroid-resistant nephrotic syndrome","Nephrotic syndrome"]	[]	6	["Disgenet (Genetic steroid-resistant nephrotic syndrome)","Orphanet (Hereditary steroid-resistant nephrotic syndrome)","Disgenet (Nephrotic syndrome)","ClinVar (Nephrotic syndrome)","Orphanet (Nephrotic syndrome)","HPO (Nephrotic syndrome)"]
ARHGDIA	4	["Idiopathic steroid-resistant nephrotic syndrome","Genetic steroid-resistant nephrotic syndrome","Hereditary steroid-resistant nephrotic syndrome","Nephrotic syndrome"]	[]	6	["Disgenet (Genetic steroid-resistant nephrotic syndrome)","Orphanet (Hereditary steroid-resistant nephrotic syndrome)","ClinGen (Nephrotic syndrome)","Disgenet (Nephrotic syndrome)","ClinVar (Nephrotic syndrome)","HPO (Nephrotic syndrome)"]
NUP205	4	["Idiopathic steroid-resistant nephrotic syndrome","Genetic steroid-resistant nephrotic syndrome","Hereditary steroid-resistant nephrotic syndrome","Nephrotic syndrome"]	[]	6	["Disgenet (Genetic steroid-resistant nephrotic syndrome)","Orphanet (Hereditary steroid-resistant nephrotic syndrome)","ClinGen (Nephrotic syndrome)","Disgenet (Nephrotic syndrome)","ClinVar (Nephrotic syndrome)","HPO (Nephrotic syndrome)"]
NUP160	4	["Idiopathic steroid-resistant nephrotic syndrome","Genetic steroid-resistant nephrotic syndrome","Hereditary steroid-resistant nephrotic syndrome","Nephrotic syndrome"]	[]	6	["Disgenet (Genetic steroid-resistant nephrotic syndrome)","Orphanet (Hereditary steroid-resistant nephrotic syndrome)","ClinGen (Nephrotic syndrome)","Disgenet (Nephrotic syndrome)","ClinVar (Nephrotic syndrome)","HPO (Nephrotic syndrome)"]
NUP93	4	["Idiopathic steroid-resistant nephrotic syndrome","Genetic steroid-resistant nephrotic syndrome","Hereditary steroid-resistant nephrotic syndrome","Nephrotic syndrome"]	[]	7	["CTD (Idiopathic steroid-resistant nephrotic syndrome)","Disgenet (Genetic steroid-resistant nephrotic syndrome)","Orphanet (Hereditary steroid-resistant nephrotic syndrome)","ClinGen (Nephrotic syndrome)","Disgenet (Nephrotic syndrome)","ClinVar (Nephrotic syndrome)","HPO (Nephrotic syndrome)"]

TBC1D8B (TBC1 domain family member 8B)

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