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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D9B Gene

protein-coding GIFtS: 45
GCID: GC05M179289

TBC1 domain family, member 9B (with GRAM domain)

Search for TBC1D9B
in

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 9B (With GRAM Domain)¹ ²
KIAA0676¹ ³
TBC1 Domain Family Member 9B²

External Ids:	HGNC: 29097¹	Entrez Gene: 23061²	Ensembl: ENSG00000197226⁷	UniProtKB: Q66K14³

Export aliases for TBC1D9B gene to outside databases

Previous GC identifers: GC05M179222 GC05M179223 GC05M174013

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

UniProtKB/Swiss-Prot: TBC9B_HUMAN, Q66K14

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_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D9B gene promoter:
NRSF form 1 SEF-1 (1) Pax-2 Pax-2a NRSF form 2 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBC1D9B promoter sequence

Search SABiosciences Chromatin IP Primers for TBC1D9B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D9B

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

Entrez Gene cytogenetic band: 5q35.3 Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q35.3

TBC1D9B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D9B gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M179289: view genomic region (about GC identifiers)

Start:	179,289,066 bp from pter	End:	179,334,859 bp from pter
Size:	45,794 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: TBC9B_HUMAN, Q66K14 (See protein sequence)

Recommended Name: TBC1 domain family member 9B

Size: 1250 amino acids; 140525 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Sequence caution: Sequence=AAH08919.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: D3DWQ5 D3DWQ6 O75163 Q53EY0 Q6MZI2 Q96H49

Alternative splicing: 2 isoforms: Q66K14-1 Q66K14-2

Explore the universe of human proteins at neXtProt for TBC1D9B: NX_Q66K14

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q66K14

TBC1D9B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_055858.2 NP_942568.2

ENSEMBL proteins:

ENSP00000430293 ENSP00000347375 ENSP00000349291 ENSP00000428441 ENSP00000428724

ENSP00000429361 ENSP00000401585

Human Recombinant Protein Products:

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	Uscn Proteins for TBC1D9B

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:0016021	integral to membrane	IEA	--

TBC1D9B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TBC1D9B

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

TBC1D9B for domains About GeneDecksing

4 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

IPR000195 Rab-GTPase-TBC_dom

IPR004182 GRAM

Graphical View of Domain Structure for InterPro Entry Q66K14

ProtoNet protein and cluster: Q66K14

UniProtKB/Swiss-Prot: TBC9B_HUMAN, Q66K14

Similarity: Contains 1 EF-hand domain

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TBC9B_HUMAN, Q66K14

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TBC1D9B Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBC1D9B
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D9B (see all 14):
		hsa-miR-3910 hsa-miR-203 hsa-miR-492 hsa-miR-128 hsa-miR-3681* hsa-miR-1205 hsa-miR-3160-3p hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: TBC1D9B 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D9B

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	--

TBC1D9B for ontologies About GeneDecksing

(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBC1D9B

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/8 Interacting proteins for TBC1D9B (Q66K14³ ENSP00000349291⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATG10	Q9H0Y0³	I2D: score=1
CLN3	Q13286³	I2D: score=1
GBAS	O75323³	I2D: score=1
MAX	P61244³	I2D: score=1
GABARAPL1	ENSP00000266458⁴	STRING: ENSP00000266458

About this table

(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 TBC1D9B
Search CenterWatch for drugs/clinical trials and news about TBC1D9B / TBC9B

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 TBC1D9B gene (2 alternative transcripts):

NM_015043.3 NM_198868.2

Unigene Cluster for TBC1D9B:

TBC1 domain family, member 9B (with GRAM domain)

Hs.155829 [show with all ESTs]

Unigene Representative Sequence: NM_198868

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000518085(uc003mlf.3) ENST00000519746(uc003mlg.3 uc011dgv.2)

ENST00000355235(uc003mli.3 uc003mlj.3) ENST00000356834(uc003mlh.3)

ENST00000522472 ENST00000521469 ENST00000520794 ENST00000524222 ENST00000522180

ENST00000519757(uc011dgw.1) ENST00000522921 ENST00000520912(uc003mlk.1)

ENST00000521669 ENST00000518459 ENST00000518115 ENST00000522029 ENST00000518120

ENST00000517782

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TBC1D9B Browse OriGene MicroRNA Expression Plasmids
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		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D9B (see all 14):
		hsa-miR-3910 hsa-miR-203 hsa-miR-492 hsa-miR-128 hsa-miR-3681* hsa-miR-1205 hsa-miR-3160-3p hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: TBC1D9B 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D9B

Additional cDNA sequence:

AB014576.1 AB449893.1 AK001196.1 AK001473.1 AK026096.1 AK074791.1 AK123874.1 AK127158.1

AK223509.1 AK304757.1 BC000701.2 BC008919.2 BC031697.1 BC080659.1 BC110400.1 BC129994.1

BX641107.1

21 DOTS entries:

DT.75133346 DT.91850457 DT.97857522 DT.100818040 DT.91646080 DT.95358927 DT.100673056 DT.99927384

DT.120865974 DT.100818039 DT.209256 DT.92448340 DT.120866062 DT.100818034 DT.75101141 DT.92448331

DT.100818041 DT.120865970 DT.95074588 DT.409507 DT.91902271

24/424 AceView cDNA sequences (see all 424):

BQ614221 BX110451 AI190675 BQ951327 CB853798 BQ028493 AU123617 BM820689

AI285004 AI635148 BQ108617 BQ959979 AI919415 AI494441 AI422318 AA464727

BU784351 CD674261 BQ006015 BU621811 AW079303 BC080659 BQ946651 CN482031

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D9B (see all 9) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19a	·	19b	^
SP1:																			-				-																-				-
SP2:																																							-				-
SP3:																																											-
SP4:
SP5:

ExUns:	20	^	21a	·	21b	·	21c	^	22	^	23a	·	23b
SP1:			-		-
SP2:	-		-		-
SP3:	-		-		-
SP4:
SP5:

ECgene alternative splicing isoforms for TBC1D9B

(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

TBC1D9B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCTGCTCT

About this image
See TBC1D9B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D9B

SOURCE GeneReport for Unigene cluster: Hs.155829

SABiosciences Custom PCR Arrays for TBC1D9B

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D9B

(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 TBC1D9B gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tbc1d9b^{1 , 5}	TBC1 domain family, member 9B^{1, 5}	87.96(n)¹ 92.69(a)¹		11 (30.28 cM)⁵ 76795¹ NM_029745.2¹ NP_084021.2¹ 50131396⁵
chicken (Gallus gallus)	Aves	TBC1D9B¹	TBC1 domain family, member 9B (with GRAM domain)	75.9(n) 81.68(a)		416282 XM_414602.3 XP_414602.3
lizard (Anolis carolinensis)	Reptilia	TBC1D9B⁶	--	79(a)	1 ↔ 1	2(140080127-140116627)
tropical clawed frog (Xenopus tropicalis)	Amphibia	AL850847.2²	--	83.12(n)		AL850847.2
zebrafish (Danio rerio)	Actinopterygii	CABZ01072915.1⁶	--	77(a)	1 ↔ 1	14(1375404-1390307)
fruit fly (Drosophila melanogaster)	Insecta	CG7324⁶	--	28(a)	1 → many	3L(21330781-21336816)
worm (Caenorhabditis elegans)	Secernentea	tbc-9⁶	TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-9...	35(a)	1 → many	IV(13476911-13502828)

ENSEMBL Gene Tree for TBC1D9B (if available)
TreeFam Gene Tree for TBC1D9B (if available)

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

Paralogs for TBC1D9B gene

TBC1D8B² TBC1D30² TBC1D8² TBC1D9²

7 SIMAP similar genes for TBC1D9B using alignment to 9 protein entries: TBC9B_HUMAN (see all proteins):

TBC1D9 TBC1D8B SGSM3 FLJ00006 TBC1D8 GRTP1

FLJ00288

TBC1D9B 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 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34339472^1,2		--	174013481(+)	`AAATAG/TAAAAA`	1	--	ds500¹		0	--	--	--	--
rs269463^1,2	C	--	174023465(-)	`CCCCAA/CGCCCA`	1	--	int¹		0	--	--	--	--
rs269464^1,2	C	--	174023474(-)	`GAGAGA/GCTCCC`	1	--	int¹ trp³		1		NA	2
rs3857306^1,2	C	--	174023477(+)	`AGTCTC/TTCTCT`	1	--	int¹ trp³		1		NA	2
rs269465^1,2	C	--	174023512(-)	`CCCCAC/AGCCCA`	1	--	int¹		1		NA	2
rs836350^1,2	C	--	174023559(-)	`CCCCAC/AGCCCA`	1	--	int¹		1		NA	2
rs155791^1,2	C,F,H,	--	179288634(-)	`CCAACG/ATGCTG`	3	--	ds500¹		6		NA WA CSA	10
rs190020734^1,2		--	179288642(+)	`TGGGAA/GGCCGA`	3	--	ds500¹		0	--	--	--	--
rs145348706^1,2		--	179288835(+)	`ATCACA/GCCACT`	2	--	ds500¹		0	--	--	--	--
rs140691949^1,2	C,	--	179288878(+)	`GTCTC-/AAA AAACAAAAAA`	2	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TBC1D9B (179289066 - 179334859 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TBC1D9B
1 CNV: 0068
3 Indels: 12792 42741 34365

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D9B

DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D9B

(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

(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 TBC1D9B gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with TBC1D9B)

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

Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)^{1, 2, 3} Ishikawa K.... Ohara O. (1998)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Rab GTPase-activating proteins in autophagy: regulatio n of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)¹ Popovic D....Dikic I. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)² Oppermann F.S.... Daub H. (2009)
Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)¹ Ishibashi K.... Fukuda M. (2009)

(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: 23061	HGNC: 29097	AceView: KIAA0676	Ensembl:ENSG00000197226	euGenes: HUgn23061
ECgene: TBC1D9B	H-InvDB: TBC1D9B

(According to HUGE)
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HUGE: KIAA0676

(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 TBC1D9B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D9B 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 TBC1D9B gene:
Search GeneIP for patents involving TBC1D9B

GeneCards and IP:
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TBC1D9B Gene

TBC1 domain family, member 9B (with GRAM domain)

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TBC1D9B Gene

TBC1 domain family, member 9B (with GRAM domain)

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