Gene

TBC1D32

Species
Homo sapiens
Symbol
TBC1D32
Name
TBC1 domain family member 32
Synonyms
  • bA301B7.2
  • bA301B7.2 (novel protein)
Biotype
protein coding gene
Automated Description
Predicted to be involved in non-motile cilium assembly. Predicted to act upstream of or within several processes, including camera-type eye development; embryonic digit morphogenesis; and regionalization. Predicted to be located in cilium and cytoplasm.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13465
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusTbc1d3210 of 10YesYes  
Rattus norvegicusTbc1d3210 of 10YesYes  
Xenopus tropicalistbc1d329 of 9YesYes   
Danio reriotbc1d3210 of 10YesYes  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
PHAF1129233202 of 8  

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
No data available

Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
Mus musculusTbc1d32
is implicated inBardet-Biedl syndrome
  • TAS
    Mus musculusTbc1d32
    is implicated inMeckel syndrome
    • TAS
      Mus musculusTbc1d32
      is implicated inVACTERL association
      • TAS
        Mus musculusTbc1d32
        is implicated invisceral heterotaxy
        • TAS
          Showing 1 - 4 of 4 rows
          per page

          Alleles and Variants

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          121.10M121.15M121.20M121.25M121.30M
          Allele/Variant Symbol
          Allele Synonyms
          Category
          Variant
          Variant type
          Molecular consequence
          Has Disease Annotations
          Has Phenotype Annotations
          NC_000006.12:g.121307995T>Cvariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121321742T>Gvariant
          SNP
          • missense variant
          NC_000006.12:g.121223286G>Tvariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121241510G>Avariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121281591T>Avariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121292137T>Gvariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121294617C>Tvariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121303672G>Avariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121304557T>Cvariant
          SNP
          • non coding transcript exon variant
          NC_000006.12:g.121090893A>Gvariant
          SNP
          • non coding transcript exon variant
          Showing 1 - 10 of 196 rows
          per page

          Transgenic Alleles

          No data available

          Models

          No data available

          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          121.10M121.15M121.20M121.25M121.30M

          Sequence Details

          Loading...

          Expression

          Primary Sources
          None
          Other Sources
          all annotationsall anatomical structuresalimentary part of gastrointestinal systemchemosensory systemcirculatory systemendocrine systemexocrine systemhemolymphoid systemhepatobiliary systemintegumental systemmechanosensory systemmusculoskeletal systemnervous systemrenal systemreproductive systemrespiratory systemsensory systemvestibulo-auditory systemvisual systemendodermectodermmesodermmesenchymeadipose tissueappendageentire extraembryonic componentimaginal precursorpharyngeal archotherall stagesembryo stagepost embryonic, pre-adultpost-juvenile adult stageall cellular componentsextracellular regionplasma membranesynapsecell junctioncell projectioncytoplasmic vesicleendosomevacuolegolgi apparatusendoplasmic reticulumcytosolmitochondrionnucleuschromosomecytoskeletonprotein-containing complexother locations
          TBC1D32 (Hsa)
          Tbc1d32 (Mmu)
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          92 interactor genes based on 102 annotations
          TBC1D32 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
          protein
          ABCF2Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          ACOT9Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          ACSL3Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          AFG3L2Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          AP2M1Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          AP3B1Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          ARL1Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          ATP2B1Homo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          ATP5F1DHomo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          protein
          AURKBHomo sapiens
          protein
          • proximity labelling technology
          PMID:32060556
          Showing 1 - 10 of 102 rows
          per page

          Genetic Interactions

          No data available