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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TBC1D30 Gene

protein-coding GIFtS: 44
GCID: GC12P065174

TBC1 Domain Family, Member 30

Search for TBC1D30
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 30¹ ²
TBC1 Domain Family Member 30²
KIAA0984³

External Ids:	HGNC: 29164¹	Entrez Gene: 23329²	Ensembl: ENSG00000111490⁷	OMIM: 615077⁵	UniProtKB: Q9Y2I9³

Export aliases for TBC1D30 gene to outside databases

Previous GC identifers: GC12P063460 GC12P062225

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

GeneCards Summary for TBC1D30 Gene:

TBC1D30 (TBC1 domain family, member 30) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D2.

UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9

Function: GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits

significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NT_029419.12 NC_018923.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TBC1D30 gene promoter:
ER-alpha LHX3b/Lhx3b C/EBPbeta Pax-5 AML1a p300 HNF-4alpha1 SRY LHX3a/Lhx3a IRF-7A
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TBC1D30

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D30

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

Entrez Gene cytogenetic band: 12q14.3 Ensembl cytogenetic band: 12q14.3 HGNC cytogenetic band: 12q14.3

TBC1D30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D30 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P065174: view genomic region (about GC identifiers)

Start:	65,174,589 bp from pter	End:	65,274,812 bp from pter
Size:	100,224 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9 (See protein sequence)

Recommended Name: TBC1 domain family member 30

Size: 924 amino acids; 102743 Da

Subcellular location: Cell membrane; Peripheral membrane protein

Sequence caution: Sequence=BAA76828.1; Type=Erroneous initiation;

Secondary accessions: B3KP01 B9A6M9 E7EMW4 F5GYJ9

Alternative splicing: 3 isoforms: Q9Y2I9-1 Q9Y2I9-2 Q9Y2I9-3

Explore the universe of human proteins at neXtProt for TBC1D30: NX_Q9Y2I9

Explore proteomics data for TBC1D30 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9Y2I9

TBC1D30 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_056094.1

ENSEMBL proteins:

ENSP00000440787 ENSP00000440640 ENSP00000440207 ENSP00000439897 ENSP00000442442

ENSP00000229088

Human Recombinant Protein Products for TBC1D30:

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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	--	--
GO:0005886	plasma membrane	IEA	--

TBC1D30 for ontologies About GeneDecksing

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

1 InterPro protein domain:

IPR000195 Rab-GTPase-TBC_dom

Graphical View of Domain Structure for InterPro Entry Q9Y2I9

ProtoNet protein and cluster: Q9Y2I9

1 Blocks protein domain: IPB000195 RabGAP/TBC domain

UniProtKB/Swiss-Prot: TBC30_HUMAN, Q9Y2I9

Similarity: Contains 1 Rab-GAP TBC domain

TBC1D30 for domains About GeneDecksing

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBC30_HUMAN, Q9Y2I9

Function: GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits

significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005097	Rab GTPase activator activity	IEA	--

TBC1D30 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TBC1D30

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032313	regulation of Rab GTPase activity	--	--

TBC1D30 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

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Search CenterWatch for drugs/clinical trials and news about TBC1D30 / TBC30

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TBC1D30 gene:

NM_015279.1

Unigene Cluster for TBC1D30:

TBC1 domain family, member 30

Hs.192492 [show with all ESTs]

Unigene Representative Sequence: NM_015279

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

ENST00000456757 ENST00000544190 ENST00000542120(uc001ssh.2 uc010sst.2)

ENST00000539867(uc010sss.2 uc001ssi.2) ENST00000544457 ENST00000539120

ENST00000229088

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Additional mRNA sequence:

AB023201.1 AB449914.1 AK055404.1 AK299508.1 AL050074.1

5 DOTS entries:

DT.40267749 DT.121196237 DT.75105811 DT.75191936 DT.97810809

24/62 AceView cDNA sequences (see all 62):

AB023201 Z38841 F10032 AI686422 BE466768 BM987772 AA858183 CK825272

F02811 BE042973 AI802074 BU607804 AK055404 CK825271 AW151449 BM310544

BU753449 AW104866 AW016064 AW058174 H08851 AI458698 Z43424 R60625

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

TBC1D30 expression in normal human tissues (normalized intensities) TBC1D30 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CATTGTACCA

About this image

TBC1D30 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/2 selected tissues (see all 2) fully expand


Brain (Nervous System) fully expand to see all 2 entries
superior temporal gyrus

Adipose (Muscoskeletal System)
Visceral White Adipose

See TBC1D30 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D30

SOURCE GeneReport for Unigene cluster: Hs.192492

SABiosciences Custom PCR Arrays for TBC1D30

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In Situ
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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 TBC1D30 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tbc1d30^{1 , 5}	TBC1 domain family, member 30^{1, 5}	84.76(n)¹ 91.72(a)¹		10 (69.12 cM)⁵ 74694¹ NM_029057.1¹ NP_083333.1¹ 121263824⁵
chicken (Gallus gallus)	Aves	TBC1D30¹	TBC1 domain family, member 30	75.43(n) 79.28(a)		417830 XM_416071.3 XP_416071.2
lizard (Anolis carolinensis)	Reptilia	TBC1D30⁶	TBC1 domain family, member 30	63(a)	1 ↔ 1	5(50263893-50330161)
zebrafish (Danio rerio)	Actinopterygii	FP102892.2⁶	Uncharacterized protein	42(a)	1 ↔ 1	4(4355685-4380319)
fruit fly (Drosophila melanogaster)	Insecta	CG42795⁶	--	8(a)	1 ↔ 1	3R(6051476-6076999)

ENSEMBL Gene Tree for TBC1D30 (if available)
TreeFam Gene Tree for TBC1D30 (if available)

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

Paralogs for TBC1D30 gene

TBC1D2² TBC1D8B² SGSM3² TBC1D2B² TBC1D9B² TBC1D8² TBC1D9²

1 SIMAP similar gene for TBC1D30 using alignment to 5 protein entries: TBC30_HUMAN (see all proteins):

SGSM3

TBC1D30 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for TBC1D30
PGOHUM00000258680

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9804998^1,2	C,F	--	65216368(+)	`gacctC/Acctgg`	1	--	us2k¹		2		WA NA	238
rs116601150^1,2	C,F	--	65216436(+)	`ATCATG/ACCCAG`	1	--	us2k¹		1		WA	118
rs4045050^1,2	C	--	65216456(+)	`TTTTT-/T/TT GTAGA`	1	--	us2k¹		1		NA	2
rs76016431^1,2	F	--	65216605(+)	`ATTGTG/AAAACA`	1	--	us2k¹		1		WA	118
rs185265044^1,2		--	65216610(+)	`GAAACA/GTTTCC`	1	--	us2k¹		0	--	--	--	--
rs139494666^1,2		--	65216892(+)	`AAAACG/TTAATT`	1	--	us2k¹		0	--	--	--	--
rs188532358^1,2	C	--	65217181(+)	`GATAGA/TCCATT`	1	--	us2k¹		0	--	--	--	--
rs78791516^1,2	F	--	65217249(+)	`ATAATT/GTATTC`	1	--	us2k¹		1		WA	118
rs192732070^1,2		--	65217338(+)	`CTAGTG/TTCAAG`	1	--	us2k¹		0	--	--	--	--
rs115175885^1,2	C,F	--	65217362(+)	`TTGACT/CTCCCA`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for TBC1D30 (65174589 - 65274812 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for TBC1D30: About this table

Variant ID	Type	Subtype	PubMed ID
nsv52978	CNV	Loss	16902084

Human Gene Mutation Database (HGMD): TBC1D30

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing TBC1D30

DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D30

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

TBC1D30 for disorders About MalaCards
OMIM gene information: 615077 OMIM disorders: --

TBC1D30 for disorders About GeneDecksing

Genetic Association Database (GAD): TBC1D30

Export disorders for TBC1D30 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 TBC1D30 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TBC1D30)

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

Common genetic variation and performance on standardi zed cognitive tests. (PubMed id 20125193)^{1, 4} Cirulli E.T....Goldstein D.B. (2010)
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)
Functional dissection of Rab GTPases involved in primary cilium formation. (PubMed id 17646400)^{1, 3} Yoshimura S....Barr F.A. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PubMed id 12618308)^{1, 3} Bernards A. (2003)
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)^{1, 2} Nagase T.... Ohara O. (1999)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23329	HGNC: 29164	AceView: KIAA0984	Ensembl:ENSG00000111490	euGenes: HUgn23329
ECgene: TBC1D30	H-InvDB: TBC1D30

(According to HUGE)
About This Section

HUGE: KIAA0984

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TBC1D30	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TBC1D30 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TBC1D30 gene:
Search GeneIP for patents involving TBC1D30

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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TBC1D30 Gene

TBC1 Domain Family, Member 30

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TBC1D30 Gene

TBC1 Domain Family, Member 30

Aliasesfor TBC1D30 gene

Summariesfor TBC1D30 gene

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Proteinsfor TBC1D30 gene

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Expression for TBC1D30 gene

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for TBC1D30 gene

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for TBC1D30 gene

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for TBC1D30 gene

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for TBC1D30 gene

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for TBC1D30 gene

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for TBC1D30 gene

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Expression
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Orthologs
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