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Aliases for TBC1D32 Gene

Aliases for TBC1D32 Gene

  • TBC1 Domain Family Member 32 2 3 4 5
  • TBC1 Domain Family, Member 32 2 3
  • Broad-Minded Homolog 2 3
  • C6orf170 3 4
  • C6orf171 3 4
  • BROMI 3 4
  • Chromosome 6 Open Reading Frame 171 2
  • Chromosome 6 Open Reading Frame 170 2
  • BA301B7.2 (Novel Protein) 3
  • DJ310J6.1 (Novel Protein) 3
  • BA301B7.2 3
  • DJ310J6.1 3
  • BA57L9.1 3

External Ids for TBC1D32 Gene

Previous HGNC Symbols for TBC1D32 Gene

  • C6orf171
  • C6orf170

Previous GeneCards Identifiers for TBC1D32 Gene

  • GC06M121401

Summaries for TBC1D32 Gene

Entrez Gene Summary for TBC1D32 Gene

  • This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for TBC1D32 Gene

TBC1D32 (TBC1 Domain Family Member 32) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TBC1D32 Gene

  • Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D32 Gene

Genomics for TBC1D32 Gene

Regulatory Elements for TBC1D32 Gene

Enhancers for TBC1D32 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBC1D32 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D32 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D32 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D32 Gene

Chromosome:
6
Start:
121,079,494 bp from pter
End:
121,334,956 bp from pter
Size:
255,463 bases
Orientation:
Minus strand

Genomic View for TBC1D32 Gene

Genes around TBC1D32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D32 Gene

Proteins for TBC1D32 Gene

  • Protein details for TBC1D32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NH3-BROMI_HUMAN
    Recommended name:
    Protein broad-minded
    Protein Accession:
    Q96NH3
    Secondary Accessions:
    • Q5SZD6
    • Q5SZM6
    • Q6ZMY4
    • Q6ZUR7
    • Q8NB47

    Protein attributes for TBC1D32 Gene

    Size:
    1257 amino acids
    Molecular mass:
    144756 Da
    Quaternary structure:
    • Interacts with CDK20, which promotes CDK20 stability and function.
    SequenceCaution:
    • Sequence=BAB70925.1; Type=Frameshift; Positions=717; Evidence={ECO:0000305}; Sequence=BAC03694.1; Type=Frameshift; Positions=143; Evidence={ECO:0000305}; Sequence=BAC03694.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC86152.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18591.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAI16051.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20000.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM16339.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM17813.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM28224.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D32 Gene

Proteomics data for TBC1D32 Gene at MOPED

Post-translational modifications for TBC1D32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D32 Gene

No data available for DME Specific Peptides for TBC1D32 Gene

Domains & Families for TBC1D32 Gene

Protein Domains for TBC1D32 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D32 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96NH3

UniProtKB/Swiss-Prot:

BROMI_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D32: view

No data available for Gene Families for TBC1D32 Gene

Function for TBC1D32 Gene

Molecular function for TBC1D32 Gene

UniProtKB/Swiss-Prot Function:
Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity).
genes like me logo Genes that share phenotypes with TBC1D32: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TBC1D32 Gene

Localization for TBC1D32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D32 Gene

Cytoplasm. Cell projection, cilium.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for TBC1D32 Gene

Pathways & Interactions for TBC1D32 Gene

SuperPathways for TBC1D32 Gene

No Data Available

Interacting Proteins for TBC1D32 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381270%0d%0a9606.ENSP00000025008%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000381270 Q96NH3-BROMI_HUMAN for TBC1D32 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TBC1D32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0021915 neural tube development IEA --
genes like me logo Genes that share ontologies with TBC1D32: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D32 Gene

Drugs & Compounds for TBC1D32 Gene

(1) Drugs for TBC1D32 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bisphosphonates Pharma 0
genes like me logo Genes that share compounds with TBC1D32: view

Transcripts for TBC1D32 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D32 Gene

No ASD Table

Relevant External Links for TBC1D32 Gene

GeneLoc Exon Structure for
TBC1D32
ECgene alternative splicing isoforms for
TBC1D32

Expression for TBC1D32 Gene

mRNA expression in normal human tissues for TBC1D32 Gene

Protein differential expression in normal tissues from HIPED for TBC1D32 Gene

This gene is overexpressed in Plasma (29.3), Bone marrow mesenchymal stem cell (27.0), and Heart (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBC1D32 Gene



genes like me logo Genes that share expression patterns with TBC1D32: view

Protein tissue co-expression partners for TBC1D32 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D32 Gene

Orthologs for TBC1D32 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D32 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBC1D32 35
  • 89.77 (n)
  • 87.35 (a)
TBC1D32 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H6orf170 35
  • 90.29 (n)
  • 88.54 (a)
TBC1D32 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d32 35
  • 84.37 (n)
  • 84.93 (a)
Tbc1d32 16
Tbc1d32 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf170 35
  • 99.42 (n)
  • 98.81 (a)
TBC1D32 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D32 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D32 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6ORF170 35
  • 72.45 (n)
  • 66.88 (a)
TBC1D32 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D32 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2369 35
zebrafish
(Danio rerio)
Actinopterygii tbc1d32 35
  • 60.43 (n)
  • 57.38 (a)
tbc1d32 36
  • 54 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5421 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4407 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for TBC1D32:
  • A. gosspyii yeast (Ashbya 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D32 Gene

ENSEMBL:
Gene Tree for TBC1D32 (if available)
TreeFam:
Gene Tree for TBC1D32 (if available)

Paralogs for TBC1D32 Gene

No data available for Paralogs for TBC1D32 Gene

Variants for TBC1D32 Gene

Sequence variations from dbSNP and Humsavar for TBC1D32 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs7767455 - 121,321,705(+) GATTC(A/C/T)GATCA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs9490157 - 121,304,557(+) AGTTA(C/T)ATCTA nc-transcript-variant, reference, missense
rs9387944 - 121,299,462(+) ATTTC(G/T)TTTCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs7745023 - 121,256,224(+) AAATA(C/T)AGAAA nc-transcript-variant, reference, missense
rs1273706 -- 121,145,470(+) gggta(C/T)tgggg intron-variant

Variation tolerance for TBC1D32 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.61; 93.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D32 Gene

Human Gene Mutation Database (HGMD)
TBC1D32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBC1D32 Gene

Disorders for TBC1D32 Gene

Relevant External Links for TBC1D32

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D32

No disorders were found for TBC1D32 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D32 Gene

Publications for TBC1D32 Gene

  1. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. (PMID: 24285566) Adly N. … Alkuraya F.S. (Hum. Mutat. 2014) 2 3 67
  2. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. (PMID: 20159594) Ko H.W. … Eggenschwiler J.T. (Dev. Cell 2010) 2 3
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3

Products for TBC1D32 Gene

Sources for TBC1D32 Gene

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