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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D8 Gene

protein-coding GIFtS: 50
GCID: GC02M101622

TBC1 domain family, member 8 (with GRAM domain)

Explore 3 diseases affiliated with
TBC1D8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 8 (With GRAM Domain)¹ ²		AD 3² ³
VRP¹ ² ³		TBC1D8A²
AD3¹ ²		BUB2-Like Protein 1²
HBLP1¹ ²		TBC1 Domain Family Member 8²
Vascular Rab-GAP/TBC-Containing Protein² ³		TBC1 Domain Family, Member 8A²

External Ids:	HGNC: 17791¹	Entrez Gene: 11138²	Ensembl: ENSG00000204634⁷	UniProtKB: O95759³

Export aliases for TBC1D8 gene to outside databases

Previous GC identifers: GC02M101228 GC02M101245 GC02M101082 GC02M100990 GC02M095387

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TBCD8_HUMAN, O95759

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022171.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D8 gene promoter:
MEF-2 Pax-2 Pax-2a RORalpha1 MEF-2A Pax-2b FOXO4 FOXO1a aMEF-2 FOXO1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TBC1D8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D8

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.2 HGNC cytogenetic band: 2q12.1

TBC1D8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D8 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M101622: view genomic region (about GC identifiers)

Start:	101,623,690 bp from pter	End:	101,869,328 bp from pter
Size:	245,639 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBCD8_HUMAN, O95759 (See protein sequence)

Recommended Name: TBC1 domain family member 8

Size: 1140 amino acids; 130835 Da

Sequence caution: Sequence=AAY14824.1; Type=Erroneous gene model prediction; Sequence=BAF85515.1; Type=Erroneous

initiation;

Secondary accessions: A6NDL4 A8K9W1 B9A6K4 Q53SQ4 Q9UQ32

Alternative splicing: 2 isoforms: O95759-1 O95759-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBC1D8: NX_O95759

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95759

TBC1D8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001095896.1

ENSEMBL proteins:

ENSP00000366036 ENSP00000386856

Human Recombinant Protein Products for TBC1D8:

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	Uscn Proteins for TBC1D8

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0016020	membrane	TAS	10373574

TBC1D8 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TBC1D8 for domains About GeneDecksing

3 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR000195 Rab-GTPase-TBC_dom

IPR004182 GRAM

Graphical View of Domain Structure for InterPro Entry O95759

ProtoNet protein and cluster: O95759

2 Blocks protein families:

IPB000195 RabGAP/TBC domain

IPB004182 GRAM domain

UniProtKB/Swiss-Prot: TBCD8_HUMAN, O95759

Similarity: Contains 2 GRAM domains

Similarity: Contains 1 Rab-GAP TBC domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBCD8_HUMAN, O95759

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

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--
GO:0005509	calcium ion binding	IEA	--

TBC1D8 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for TBC1D8:

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBC1D8

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D8

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell cycle

Cell cycle

1.00

1 BioSystems Pathway for TBC1D8

Cell cycle

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBC1D8

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/17 Interacting proteins for TBC1D8 (O95759³ ENSP00000366036⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRAF4	Q9BUZ4³, ENSP00000262395⁴	I2D: score=2 STRING: ENSP00000262395
AARS	P49588³	I2D: score=1
BYSL	Q13895³	I2D: score=1
COX10	Q12887³	I2D: score=1
CYC1	P08574³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008015	blood circulation	TAS	10373574
GO:0008284	positive regulation of cell proliferation	TAS	10373574

TBC1D8 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TBC1D8
Search CenterWatch for drugs/clinical trials and news about TBC1D8 / TBCD8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBC1D8 gene (2 alternative transcripts):

NM_007063.3 NM_001102426.1

Unigene Cluster for TBC1D8:

TBC1 domain family, member 8 (with GRAM domain)

Hs.442657 [show with all ESTs]

Unigene Representative Sequence: NM_001102426

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376840(uc002tau.4) ENST00000409318(uc010fiv.3 uc010yvw.2)

ENST00000494011 ENST00000473937 ENST00000485875 ENST00000481317 ENST00000487392

ENST00000463469 ENST00000462819 ENST00000485851

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		hsa-miR-25 hsa-let-7a-2* hsa-miR-301a hsa-miR-4275 hsa-miR-9 hsa-miR-3613-3p hsa-miR-130b hsa-miR-92b

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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Additional cDNA sequence:

AB017114.1 AB449889.1 AK292826.1 AK300533.1

17 DOTS entries:

DT.95195859 DT.95182293 DT.92446975 DT.95082825 DT.75101776 DT.100718822 DT.92446959 DT.121029634

DT.310629 DT.95170333 DT.40279099 DT.40198534 DT.95170318 DT.95221048 DT.431589 DT.436293

DT.65288702

24/2190 AceView cDNA sequences (see all 2190):

BG755366 AI278940 AI140663 BE887593 AA181969 CD679439 AI141714 AW023985

BQ723575 BE392190 AI797803 BQ673769 BM768538 BF686002 BQ231994 D57144

BU734504 AA694094 BU162569 T53406 BE792881 X69181 AA534302 BQ688648

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TBC1D8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTCAATGT

About this image

TBC1D8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

See TBC1D8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D8

SOURCE GeneReport for Unigene cluster: Hs.442657

SABiosciences Custom PCR Arrays for TBC1D8

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TBC1D8 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TBC1D8¹	TBC1 domain family, member 8 (with GRAM domain)	76.26(n) 81.99(a)		428012 XM_425583.3 XP_425583.3
lizard (Anolis carolinensis)	Reptilia	TBC1D8⁶	--	78(a)	1 ↔ 1	GL343542.1(179371-226679)
African clawed frog (Xenopus laevis)	Amphibia	48055759²	--	76.91(n)		48055759
zebrafish (Danio rerio)	Actinopterygii	tbc1d8¹	TBC1 domain family, member 8 (with GRAM domain)	60(n) 55.41(a)		100333881 XM_002663446.2 XP_002663492.2
fruit fly (Drosophila melanogaster)	Insecta	CG7324⁶	--	26(a)	1 → many	3L(21330781-21336816)
worm (Caenorhabditis elegans)	Secernentea	tbc-9⁶	TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-9...	31(a)	1 → many	IV(13476911-13502828)

ENSEMBL Gene Tree for TBC1D8 (if available)
TreeFam Gene Tree for TBC1D8 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TBC1D8 gene

TBC1D8B² TBC1D30² TBC1D9B² TBC1D9²

9 SIMAP similar genes for TBC1D8 using alignment to 2 protein entries: TBCD8_HUMAN (see all proteins):

TBC1D8B TBC1D9 TBC1D6 TBC1D9B SGSM3 GRTP1

FLJ00006 TBC1D10A FLJ00288

TBC1D8 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190247705^1,2		--	101636692(+)	`ATAATA/GTTTGT`	1	--	int¹		0	--	--	--	--
rs7561411^1,2	C,F,A,H	--	101636719(+)	`AATAAT/CAGAGT`	1	--	int¹		19		NS EA NA WA	2234
rs10553891^1,2	C	--	101636787(+)	`GGAAA-/GATGATGA`	1	--	int¹		0	--	--	--	--
rs7570839^1,2	C,F,A,H	--	101636892(+)	`AATTTG/ATATTG`	1	--	int¹		17		NA NS EA WA CSA	931
rs182833247^1,2		--	101636931(+)	`CTAAAC/GAATTT`	1	--	int¹		0	--	--	--	--
rs17663443^1,2	C,F,H	--	101637009(+)	`AGTCAT/CAATAG`	1	--	int¹		22		NA NS EA CSA WA	2450
rs141870596^1,2		--	101637050(+)	`GACTGC/TGTGGC`	1	--	int¹		0	--	--	--	--
rs11680887^1,2	C,F,A,H	--	101637051(+)	`ACTGCG/ATGGCC`	1	--	int¹		16		NS EA NA WA	1150
rs188616862^1,2		--	101637174(+)	`TTCAAC/TGTTTG`	1	--	int¹		0	--	--	--	--
rs146264984^1,2		--	101637179(+)	`TGTTTA/GTACAG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TBC1D8 (101623690 - 101869328 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TBC1D8
1 CNV: 47994

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D8

DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D8

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TBC1D8 for disorders About GeneDecksing

3 diseases for TBC1D8: About MalaCards

hepatitis c osteoporosis hepatitis

Human Genome Epidemiology (HuGE) Navigator: TBC1D8 (1 document)

Export disorders for TBC1D8 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TBC1D8 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TBC1D8)

Utopia: connect your pdf to the dynamic
world of online information

Antisense display -- a method for functional gene screening: evaluation in a cell-free system and isolation of angiogenesis-related genes. (PubMed id 10373574)^{1, 2, 3} Yonekura H.... Yamamoto H. (1999)
Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)^{1, 2} Ishibashi K.... Fukuda M. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)¹ Long P....Rose S. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
An integration of genome-wide association study and g ene expression profiling to prioritize the discovery of novel susceptibility Lo ci for osteoporosis-related traits. (PubMed id 20548944)¹ Hsu Y.H....Kiel D.P. (2010)
A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. (PubMed id 17686842)¹ Sklan E.H.... Glenn J.S. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. (PubMed id 15851553)¹ Ozyildirim A.M....Laurie G.W. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11138	HGNC: 17791	AceView: RPL31	Ensembl:ENSG00000204634	euGenes: HUgn11138
ECgene: TBC1D8	H-InvDB: TBC1D8

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TBC1D8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TBC1D8 gene:
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TBC1D8 Gene

TBC1 domain family, member 8 (with GRAM domain)

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TBC1D8 Gene

TBC1 domain family, member 8 (with GRAM domain)

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