TBC1D30 Gene

Aliases
for TBC1D30 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC12P063460 GC12P062225

Summaries
for TBC1D30 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for TBC1D30 gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000012.11  NT_029419.13  NC_018923.2  

Browse SwitchGear Promoter luciferase reporter plasmids

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBC1D30

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


GeneLoc information about chromosome 12         GeneLoc Exon Structure

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

Proteins
for TBC1D30 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for TBC1D30: NX_Q9Y2I9

Explore proteomics data for TBC1D30 at MOPED

Post-translational modifications: 

TBC1D30 Human Recombinant Protein Products:

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	antibodies-online kits for TBC1D30 (4 products)

Domains /
Families
for TBC1D30 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9Y2I9

Find genes that share domains with TBC1D30           About GenesLikeMe

Function
for TBC1D30 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 1 molecular function term:    About this table

genOway: Develop your customized and physiologically relevant rodent model for TBC1D30

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		hsa-miR-124* hsa-miR-3678-3p hsa-miR-579 hsa-miR-3653 hsa-miR-759 hsa-miR-3613-3p hsa-miR-3148 hsa-miR-509-3-5p
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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for TBC1D30

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30

Localization
for TBC1D30 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	5
nucleus	3
cytosol	2

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Gene Ontology (GO): 1 cellular component term:    About this table

Pathways & Interactions
for TBC1D30 gene

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for TBC1D30 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for TBC1D30 gene

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for TBC1D30 gene

(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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TBC1D30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CATTGTACCA

About this image

Adipose (Muscoskeletal System)
Visceral White Adipose

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D30

Orthologs
for TBC1D30 gene

(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)
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Paralogs
for TBC1D30 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with TBC1D30           About GenesLikeMe


1 Pseudogenes.org Pseudogene for TBC1D30
PGOHUM00000258680

Genomic Variants
for TBC1D30 gene

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TBC1D30 (see all 972)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs98049981,2	C,F	--	65216368(+)	gacctC/Acctgg	1	--	us2k1		2		WA NA	238
rs1166011501,2	C,F	--	65216436(+)	ATCATG/ACCCAG	1	--	us2k1		1		WA	118
rs40450501,2	C	--	65216456(+)	TTTTT-/T/TT           GTAGA	1	--	us2k1		1		NA	2
rs760164311,2	F	--	65216605(+)	ATTGTG/AAAACA	1	--	us2k1		1		WA	118
rs1852650441,2		--	65216610(+)	GAAACA/GTTTCC	1	--	us2k1		0	--	--	--	--
rs1394946661,2		--	65216892(+)	AAAACG/TTAATT	1	--	us2k1		0	--	--	--	--
rs1885323581,2	C	--	65217181(+)	GATAGA/TCCATT	1	--	us2k1		0	--	--	--	--
rs787915161,2	F	--	65217249(+)	ATAATT/GTATTC	1	--	us2k1		1		WA	118
rs1927320701,2		--	65217338(+)	CTAGTG/TTCAAG	1	--	us2k1		0	--	--	--	--
rs1151758851,2	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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TBC1D30

DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D30

Disorders / Diseases
for TBC1D30 gene

(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, Sets of similar genes according to GenesLikeMe)
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Publications
for TBC1D30 gene

(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)
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1. Common genetic variation and performance on standardized cognitive tests. (PubMed id 20125193)^{1, 4} Cirulli E.T....Goldstein D.B. (Eur. J. Hum. Genet. 2010)
2. 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. (Genes Cells 2009)
3. Functional dissection of Rab GTPases involved in primary cilium formation. (PubMed id 17646400)^{1, 3} Yoshimura S....Barr F.A. (J. Cell Biol. 2007)
4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
5. GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PubMed id 12618308)^{1, 3} Bernards A. (Biochim. Biophys. Acta 2003)
6. 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. (DNA Res. 1999)
7. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (Nature 2006)
8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

External Searches for TBC1D30 gene

Genome Databases showing TBC1D30 gene

Other Databases showing TBC1D30 gene

Specialized Databases showing TBC1D30 gene

Products
for TBC1D30 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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