Aliases for TBC1D12 Gene

Aliases for TBC1D12 Gene

  • TBC1 Domain Family Member 12 2 3 4 5
  • KIAA0608 2 4
  • TBC1 Domain Family, Member 12 2
  • TBC1D12 5

External Ids for TBC1D12 Gene

Previous GeneCards Identifiers for TBC1D12 Gene

  • GC10P095827
  • GC10P096152
  • GC10P089788

Summaries for TBC1D12 Gene

GeneCards Summary for TBC1D12 Gene

TBC1D12 (TBC1 Domain Family Member 12) is a Protein Coding gene. Diseases associated with TBC1D12 include Brachydactyly, Type D. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D14.

UniProtKB/Swiss-Prot Summary for TBC1D12 Gene

Additional gene information for TBC1D12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D12 Gene

Genomics for TBC1D12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J094401 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1109 4.1 CREB1 ZNF629 PRDM10 REST RFX1 ZNF692 POLR2A BACH1 ZHX2 FOXA1 TBC1D12 NOC3L HELLS PDE6C RF00017-749
GH10J094531 Promoter 0.3 EPDnew 600.1 +128.8 128831 0.1 TBC1D12 lnc-CYP2C18-2 MF281430-011 HELLS CYP2C18
GH10J095286 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 +889.8 889785 11.8 SP1 CTCF HNRNPL TEAD4 PRDM10 ZNF629 RFX1 LEF1 IKZF1 KDM1A PDLIM1 lnc-ACSM6-1 TBC1D12 CYP2C8 ENTPD1 SORBS1 lnc-PDLIM1-4
GH10J095271 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 5.3 +874.7 874696 11.3 GATAD2A PRDM10 REST TFE3 SOX13 NFKBIZ RCOR2 FOXA1 ZIC2 RXRB PDLIM1 CYP2C8 TBC1D12 ACSM6 CYP2C18 TCTN3 lnc-SORBS1-2
GH10J094381 Enhancer 1 FANTOM5 Ensembl ENCODE 5.2 -19.4 -19428 4.4 SOX13 CEBPB FOS JUND POLR3A SPI1 MYC PKNOX1 ZNF680 HELLS PDE6C CYP2C19 NOC3L TBC1D12 PLCE1-AS1 RF00017-748
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D12

Top Transcription factor binding sites by QIAGEN in the TBC1D12 gene promoter:
  • AP-4
  • c-Myb
  • Pax-4a
  • Pax-5
  • RFX1
  • TBP

Genomic Locations for TBC1D12 Gene

Genomic Locations for TBC1D12 Gene
chr10:94,402,429-94,536,332
(GRCh38/hg38)
Size:
133,904 bases
Orientation:
Plus strand
chr10:96,162,186-96,296,089
(GRCh37/hg19)
Size:
133,904 bases
Orientation:
Plus strand

Genomic View for TBC1D12 Gene

Genes around TBC1D12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D12 Gene

Proteins for TBC1D12 Gene

  • Protein details for TBC1D12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60347-TBC12_HUMAN
    Recommended name:
    TBC1 domain family member 12
    Protein Accession:
    O60347
    Secondary Accessions:
    • Q5VYA6
    • Q8WX26
    • Q8WX59
    • Q9UG83

    Protein attributes for TBC1D12 Gene

    Size:
    775 amino acids
    Molecular mass:
    85626 Da
    Quaternary structure:
    • Interacts with RAB11A; this interaction recruits TBC1D12 to RAB11A-positive recycling endosomes.
    SequenceCaution:
    • Sequence=BAA25534.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43225.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TBC1D12 Gene

Post-translational modifications for TBC1D12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D12 Gene

No data available for DME Specific Peptides for TBC1D12 Gene

Domains & Families for TBC1D12 Gene

Gene Families for TBC1D12 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for TBC1D12 Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D12 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 12 (B9A6L3_HUMAN)
  • TBC1 domain family member 12 (TBC12_HUMAN)
genes like me logo Genes that share domains with TBC1D12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D12 Gene

Function for TBC1D12 Gene

Molecular function for TBC1D12 Gene

UniProtKB/Swiss-Prot Function:
RAB11A-binding protein that plays a role in neurite outgrowth.

Phenotypes From GWAS Catalog for TBC1D12 Gene

Gene Ontology (GO) - Molecular Function for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0017137 Rab GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with TBC1D12: view
genes like me logo Genes that share phenotypes with TBC1D12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D12 Gene

Localization for TBC1D12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D12 Gene

Endosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D12 gene
Compartment Confidence
nucleus 3
endosome 3
cytoskeleton 1
golgi apparatus 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005776 autophagosome IBA 21873635
GO:0055037 recycling endosome IBA 21873635
genes like me logo Genes that share ontologies with TBC1D12: view

Pathways & Interactions for TBC1D12 Gene

PathCards logo

SuperPathways for TBC1D12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0090630 activation of GTPase activity IBA 21873635
GO:2000785 regulation of autophagosome assembly IBA 21873635
genes like me logo Genes that share ontologies with TBC1D12: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D12 Gene

Drugs & Compounds for TBC1D12 Gene

No Compound Related Data Available

Transcripts for TBC1D12 Gene

mRNA/cDNA for TBC1D12 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D12

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D12 Gene

No ASD Table

Relevant External Links for TBC1D12 Gene

GeneLoc Exon Structure for
TBC1D12

Expression for TBC1D12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D12 Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D12 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.8).

Protein differential expression in normal tissues from HIPED for TBC1D12 Gene

This gene is overexpressed in Heart (57.1) and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBC1D12 Gene



Protein tissue co-expression partners for TBC1D12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D12

SOURCE GeneReport for Unigene cluster for TBC1D12 Gene:

Hs.500598

Evidence on tissue expression from TISSUES for TBC1D12 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with TBC1D12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D12 Gene

Orthologs for TBC1D12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBC1D12 30 31
  • 99.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC685933 30
  • 90.25 (n)
Dog
(Canis familiaris)
Mammalia TBC1D12 30 31
  • 90.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D12 30 31
  • 90.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbc1d12 30 17 31
  • 85.24 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TBC1D12 30 31
  • 78.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBC1D12 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbc1d12 30
  • 76.72 (n)
Zebrafish
(Danio rerio)
Actinopterygii tbc1d12a 31
  • 72 (a)
OneToMany
tbc1d12b 30 31
  • 67.94 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbc-12 31
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 31
  • 10 (a)
ManyToMany
GYP5 31
  • 8 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10585 31
  • 61 (a)
OneToMany
Species where no ortholog for TBC1D12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TBC1D12 Gene

ENSEMBL:
Gene Tree for TBC1D12 (if available)
TreeFam:
Gene Tree for TBC1D12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D12: view image

Paralogs for TBC1D12 Gene

(1) SIMAP similar genes for TBC1D12 Gene using alignment to 2 proteins:

  • TBC12_HUMAN
  • B9A6L3_HUMAN

Pseudogenes.org Pseudogenes for TBC1D12 Gene

genes like me logo Genes that share paralogs with TBC1D12: view

Variants for TBC1D12 Gene

Additional dbSNP identifiers (rs#s) for TBC1D12 Gene

Structural Variations from Database of Genomic Variants (DGV) for TBC1D12 Gene

Variant ID Type Subtype PubMed ID
dgv1354n54 CNV loss 21841781
esv25061 CNV loss 19812545
esv2658991 CNV deletion 23128226
esv2664667 CNV deletion 23128226
esv2673369 CNV deletion 23128226
esv2739684 CNV deletion 23290073
esv2739696 CNV deletion 23290073
esv2761616 CNV gain 21179565
esv3546702 CNV deletion 23714750
esv4632 CNV loss 18987735
esv5036 CNV loss 18987735
nsv1127134 CNV deletion 24896259
nsv551947 CNV loss 21841781
nsv551948 CNV gain 21841781
nsv551949 CNV loss 21841781
nsv551950 CNV gain 21841781
nsv551952 CNV gain+loss 21841781
nsv831946 CNV loss 17160897

Variation tolerance for TBC1D12 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D12 Gene

Disorders for TBC1D12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
brachydactyly, type d
  • bdd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TBC1D12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D12 Gene

Publications for TBC1D12 Gene

  1. 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. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  4. TBC1D12 is a novel Rab11-binding protein that modulates neurite outgrowth of PC12 cells. (PMID: 28384198) Oguchi ME … Fukuda M (PloS one 2017) 4
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3

Products for TBC1D12 Gene

Sources for TBC1D12 Gene