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Aliases for TBC1D32 Gene

Aliases for TBC1D32 Gene

  • TBC1 Domain Family Member 32 2 3 4 5
  • 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
  • TBC1 Domain Family, Member 32 2
  • BA301B7.2 (Novel Protein) 3
  • DJ310J6.1 (Novel Protein) 3
  • Protein Broad-Minded 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).

Additional gene information for TBC1D32 Gene

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

Genomics for TBC1D32 Gene

GeneHancer (GH) Regulatory Elements for TBC1D32 Gene

Promoters and enhancers for TBC1D32 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
GH06I121333 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.3 +0.4 436 2.7 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B TBC1D32 LOC105377977
GH06I121434 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.1 -102.6 -102571 6.3 MZF1 ZNF76 SIN3A FEZF1 ZNF2 YY1 ZNF335 ZNF121 GLIS2 ZNF366 GJA1 GC06P121435 RNU2-8P TBC1D32 GC06P121443
GH06I121381 Enhancer 0.6 ENCODE 11.4 -48.1 -48135 3 KLF1 NFIA MZF1 MAFG ZNF316 NFIC PRDM10 RCOR1 NFE2 EMSY RPS15AP21 GC06P121382 TBC1D32 ENSG00000272714
GH06I121309 Enhancer 0.3 ENCODE 16.2 +24.8 24823 2.3 GATA3 TBC1D32 LOC105377977
GH06I121078 Enhancer 0.2 FANTOM5 9.5 +256.3 256273 0.2 TBC1D32 LOC105377977
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D32 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TBC1D32 Gene

Genomic Locations for TBC1D32 Gene
chr6:121,079,494-121,334,956
(GRCh38/hg38)
Size:
255,463 bases
Orientation:
Minus strand
chr6:121,400,627-121,655,891
(GRCh37/hg19)

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

Post-translational modifications for TBC1D32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D32 Gene

Domains & Families for TBC1D32 Gene

Gene Families for TBC1D32 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TBC1D32 Gene

Suggested Antigen Peptide Sequences for TBC1D32 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D32: view

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TBC1D32 Gene

genes like me logo Genes that share phenotypes with TBC1D32: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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.

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 TBC1D32 gene
Compartment Confidence
cytosol 3
mitochondrion 2
plasma membrane 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TBC1D32: view

Pathways & Interactions for TBC1D32 Gene

SuperPathways for TBC1D32 Gene

No Data Available

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:0003406 retinal pigment epithelium development IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry 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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for TBC1D32 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D32 Gene:

TBC1D32

Evidence on tissue expression from TISSUES for TBC1D32 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TBC1D32: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf170 33
  • 99.42 (n)
TBC1D32 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H6orf170 33
  • 90.29 (n)
TBC1D32 34
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D32 33 34
  • 89.77 (n)
mouse
(Mus musculus)
Mammalia Tbc1d32 33 16 34
  • 84.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D32 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D32 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6ORF170 33
  • 72.45 (n)
TBC1D32 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D32 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2369 33
zebrafish
(Danio rerio)
Actinopterygii tbc1d32 33 34
  • 60.43 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5421 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4407 33
Species where no ortholog for TBC1D32 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs587777505 uncertain-significance, not provided 121,292,052(-) C/A/G/T genic_upstream_transcript_variant, splice_donor_variant
rs1000000895 -- 121,120,978(-) T/A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000019749 -- 121,301,359(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000027384 -- 121,274,231(-) G/A intron_variant
rs1000040652 -- 121,102,045(-) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D32 Gene

Variant ID Type Subtype PubMed ID
esv22380 CNV gain 19812545
esv26352 CNV loss 19812545
esv2678697 CNV deletion 23128226
esv2732638 CNV deletion 23290073
esv2732640 CNV deletion 23290073
esv2760998 CNV loss 21179565
esv3303787 CNV mobile element insertion 20981092
esv3310442 CNV novel sequence insertion 20981092
esv3341087 CNV insertion 20981092
esv3349161 CNV duplication 20981092
esv3435280 CNV insertion 20981092
esv3540379 CNV deletion 23714750
esv3571380 CNV loss 25503493
esv3610576 CNV loss 21293372
esv3610580 CNV loss 21293372
esv3610582 CNV loss 21293372
esv3610583 CNV loss 21293372
esv3610584 CNV loss 21293372
esv3610585 CNV loss 21293372
esv3890934 CNV gain 25118596
esv6573 CNV gain 19470904
nsv1017944 CNV gain 25217958
nsv1074010 CNV deletion 25765185
nsv1137140 CNV deletion 24896259
nsv442006 CNV loss 18776908
nsv514384 CNV loss 21397061
nsv517605 CNV loss 19592680
nsv524172 CNV loss 19592680
nsv527946 CNV loss 19592680
nsv604571 CNV loss 21841781
nsv604572 CNV loss 21841781
nsv830789 CNV loss 17160897
nsv950502 CNV duplication 24416366

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)

Additional Variant Information for TBC1D32 Gene

Human Gene Mutation Database (HGMD)
TBC1D32
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D32 Gene

Disorders for TBC1D32 Gene

Additional Disease Information for 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 FS (Human mutation 2014) 2 3 58
  2. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. (PMID: 20159594) Ko HW … Eggenschwiler JT (Developmental cell 2010) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TBC1D32 Gene

Sources for TBC1D32 Gene

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