TBC1D12 Gene
protein-coding GIFtS: 40
GCID: GC10P096152
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TBC1 domain family, member 12
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Aliases for TBC1D12 gene
(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 121 2 | | KIAA06081 3 | | TBC1 Domain Family Member 122 |
Export aliases for TBC1D12 gene to outside databasesPrevious GC identifers: GC10P095827 GC10P089788 |
Summaries for TBC1D12 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: TBC12_HUMAN, O60347Function: May act as a GTPase-activating protein for Rab family protein(s)
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Genomic Views for TBC1D12 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TBC1D12 gene promoter: TBP RFX1 Pax-5 c-Myb AP-4 Pax-4a Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D12
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D12 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q23.33 Ensembl cytogenetic band: 10q23.33 HGNC chromosome: 10TBC1D12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P096152: view genomic region
(about GC identifiers)
Start:
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96,162,186 bp from pter |
End:
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96,296,089 bp from pter |
Size:
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133,904 bases |
Orientation:
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plus strand |
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Proteins for TBC1D12 gene
(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: TBC12_HUMAN, O60347 (See
protein sequence)Recommended Name: TBC1 domain family member 12 Size: 775 amino acids; 85626 Da
Sequence caution: Sequence=BAA25534.1; Type=Erroneous initiation; Sequence=CAB43225.2; Type=Erroneous initiation;
Secondary accessions: Q5VYA6 Q8WX26 Q8WX59 Q9UG83Explore the universe of human proteins at neXtProt for TBC1D12: NX_O60347
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60347 TBC1D12 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_056003.1 ENSEMBL proteins: ENSP00000225235 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005622 | intracellular |
IEA | -- |
TBC1D12 for ontologies About GeneDecksing
TBC1D12 Antibody Products: Assay Products for TBC1D12: |
Protein
Domains / Families for TBC1D12 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D12 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O60347ProtoNet protein and cluster: O60347 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: TBC12_HUMAN, O60347Similarity: Contains 1 Rab-GAP TBC domain |
Function for TBC1D12 gene
(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: TBC12_HUMAN, O60347Function: May act as a GTPase-activating protein for Rab family protein(s)
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TBC1D12 (NM_015188) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D12 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D12  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D12 |
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 | -- |
TBC1D12 for ontologies About GeneDecksing
|
Pathways & Interactions for TBC1D12 gene
(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 CentralTM Interacting Genes and Proteins Networks for TBC1D12
|
Drugs & Compounds for TBC1D12 gene(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 Tocris compounds for TBC1D12 Search CenterWatch for drugs/clinical trials and news about TBC1D12 / TBC12 
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Transcripts for TBC1D12 gene(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 TBC1D12 gene: NM_015188.1 Unigene Cluster for TBC1D12: TBC1 domain family, member 12 Hs.500598 [show with all ESTs]Unigene Representative Sequence: NM_0151884 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000225235(uc001kjr.2) ENST00000482498 ENST00000485048 ENST00000457045
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TBC1D12 (NM_015188) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D12 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D12  |
Additional cDNA sequence: AB011180.1 AB449898.1 AJ404330.1 AK090865.1 AL049956.1 BC064323.1 4 DOTS entries: DT.85105340 DT.97771689 DT.100772148 DT.95371392 24/96 AceView cDNA sequences (see all 96): AA424602 AV728684 AI277581 BG260325 BX105596 AI684784 AW952386 AI733561 AW948925 AA693384 Z45049 AI951811 AA346633 BC064323 BU686951 AL703252 BM670728 AW451225 AW662906 AB011180 F04292 CB053712 F08056 Z42723 GeneLoc Exon Structure
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Expression for TBC1D12 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 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
| TBC1D12 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TATTTGTTTC
About this image See TBC1D12 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TBC1D12
SOURCE GeneReport for Unigene cluster: Hs.500598 SABiosciences Custom PCR Arrays for TBC1D12
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D12 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBC1D12 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D12 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D12 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D12 |
Orthologs for TBC1D12 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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TBC1D12 gene from 6/19 species (see all 19) About this table
ENSEMBL Gene Tree for TBC1D12 (if available) TreeFam Gene Tree for TBC1D12 (if available)  |
Paralogs for TBC1D12 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for TBC1D12 gene
- RABGAP1L2 TBC1D42 TBC1D142 TBC1D12 EVI52 EVI5L2 RABGAP12
1 SIMAP similar gene for TBC1D12 using alignment to 2 protein entries: TBC12_HUMAN (see all proteins):TBC1D14
TBC1D12 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for TBC1D12 PGOHUM00000242158
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Genomic Variants for TBC1D12 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 10 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for TBC1D12 (96162186 - 96296089 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for TBC1D12 3 Indels: 65765 41519 41583  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D12 |
|
Disorders
/ Diseases for TBC1D12 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.)
About This Section
| -- |
Publications for TBC1D12 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)
About This Section
|
PubMed articles for TBC1D12 gene integrated from 9 sources: (articles sorted by number of sources associating them with TBC1D12) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
- 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)
- 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)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for TBC1D12 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing TBC1D12 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
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Other Databases showing TBC1D12 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing TBC1D12 gene(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 TBC1D12 | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for TBC1D12 gene: Search GeneIP for patents involving TBC1D12
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for TBC1D12 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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 About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for TBC1D12 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBC1D12 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D12 | | OriGene Protein Over-expression Lysate for TBC1D12 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for TBC1D12 | | OriGene 3'-UTR Clone for TBC1D12 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D12 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBC1D12 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D12 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D12 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D12 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D12 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D12 |
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| | | Search Tocris compounds for TBC1D12 |
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 | | TBC1D12 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D12 |
|  |  |  | | | Search ThermoFisher Antibodies for TBC1D12 |
| | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBC1D12 |
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