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    TBC1D32 TBC1 domain family member 32 [ Homo sapiens (human) ]

    Gene ID: 221322, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TBC1D32provided by HGNC
    Official Full Name
    TBC1 domain family member 32provided by HGNC
    Primary source
    HGNC:HGNC:21485
    See related
    Ensembl:ENSG00000146350 MIM:615867; AllianceGenome:HGNC:21485
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BROMI; C6orf170; C6orf171
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 1.8), skin (RPKM 0.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D32 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (121079494..121334729, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (122266619..122522031, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121400640..121655875, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene COX6A1 pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121251634-121252404 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121252405-121253175 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:121253176-121253945 Neighboring gene uncharacterized LOC105377977 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_88787 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_88931 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89007 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89060 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89101 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25019 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:121697099-121697600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:121697601-121698100 Neighboring gene RNA, U6 small nuclear 1286, pseudogene Neighboring gene ribosomal protein S15a pseudogene 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. Bocquet B, et al. JCI Insight, 2023 Nov 8. PMID 37768732, Free PMC Article
    2. Confirming TBC1D32-related ciliopathy in humans. Alsahan N, et al. Am J Med Genet A, 2020 Aug. PMID 32573025
    3. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Shaheen R, et al. Am J Hum Genet, 2019 Apr 4. PMID 30905400, Free PMC Article
    4. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Adly N, et al. Hum Mutat, 2014 Jan. PMID 24285566
    5. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. Satoda Y, et al. Mol Biol Cell, 2022 Aug 1. PMID 35609210, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
      Title: TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
    2. BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
      Title: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
    3. Confirming TBC1D32-related ciliopathy in humans.
      Title: Confirming TBC1D32-related ciliopathy in humans.
    4. Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
      Title: Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
    5. study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis
      Title: Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
    6. Studies in mouse and zebrafish implicate that TBC1D32 is involved in sonic hedgehog signaling.
      Title: Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30899, FLJ34235

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retinal pigment epithelium development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein broad-minded
    Names
    broad-minded homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034203.1 RefSeqGene

      Range
      5021..260007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001367759.1 → NP_001354688.1  protein broad-minded isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035593, AL139098, AL365508, AL589910, AL590225
      Consensus CDS
      CCDS93996.1

    2. NM_001367760.1 → NP_001354689.1  protein broad-minded isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL035593, AL139098, AL365508, AL589910, AL590225
      Consensus CDS
      CCDS93996.1
      Related
      ENSP00000275159.6, ENST00000275159.11

    3. NM_152730.6 → NP_689943.4  protein broad-minded isoform 1

      See identical proteins and their annotated locations for NP_689943.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.
      Source sequence(s)
      AK055461, AK091554, AK126259, AK131446, AL035593, AL589910, BX112581
      Consensus CDS
      CCDS43501.1
      UniProtKB/Swiss-Prot
      Q5SZD6, Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47, Q96NH3
      Related
      ENSP00000381270.2, ENST00000398212.7
      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1254
      BROMI; Broad-minded protein

    RNA

    1. NR_104452.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in both the 5' and 3' regions, and includes four additional exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK131446, AL035593, AL365508, AL589910, BX112581, DB084115
      Related
      ENST00000464622.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      121079494..121334729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418311.1 → XP_047274267.1  protein broad-minded isoform X5

    2. XM_011535570.2 → XP_011533872.1  protein broad-minded isoform X1

      See identical proteins and their annotated locations for XP_011533872.1

      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1316
      BROMI; Broad-minded protein

    3. XM_017010398.3 → XP_016865887.1  protein broad-minded isoform X2

      UniProtKB/Swiss-Prot
      Q96NH3
      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1295
      BROMI; Broad-minded protein

    4. XM_011535571.4 → XP_011533873.1  protein broad-minded isoform X1

      See identical proteins and their annotated locations for XP_011533873.1

      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1316
      BROMI; Broad-minded protein

    5. XM_047418310.1 → XP_047274266.1  protein broad-minded isoform X4

    6. XM_047418309.1 → XP_047274265.1  protein broad-minded isoform X3

    7. XM_011535574.2 → XP_011533876.1  protein broad-minded isoform X7

      Conserved Domains (1) summary
      pfam14961
      Location:1 → 1207
      BROMI; Broad-minded protein

    8. XM_011535580.3 → XP_011533882.1  protein broad-minded isoform X13

      See identical proteins and their annotated locations for XP_011533882.1

      Conserved Domains (1) summary
      pfam14961
      Location:2 → 923
      BROMI; Broad-minded protein

    9. XM_017010404.1 → XP_016865893.1  protein broad-minded isoform X16

    10. XM_047418312.1 → XP_047274268.1  protein broad-minded isoform X6

    11. XM_047418317.1 → XP_047274273.1  protein broad-minded isoform X11

    12. XM_017010402.3 → XP_016865891.1  protein broad-minded isoform X11

    13. XM_047418314.1 → XP_047274270.1  protein broad-minded isoform X9

    14. XM_047418316.1 → XP_047274272.1  protein broad-minded isoform X10

    15. XM_047418315.1 → XP_047274271.1  protein broad-minded isoform X10

    16. XM_047418313.1 → XP_047274269.1  protein broad-minded isoform X8

    17. XM_017010403.2 → XP_016865892.1  protein broad-minded isoform X12

    18. XM_047418318.1 → XP_047274274.1  protein broad-minded isoform X14

    19. XM_011535585.3 → XP_011533887.1  protein broad-minded isoform X15

      Conserved Domains (1) summary
      pfam14961
      Location:12 → 792
      BROMI; Broad-minded protein

    20. XM_047418319.1 → XP_047274275.1  protein broad-minded isoform X17

    RNA

    1. XR_942346.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      122266619..122522031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354531.1 → XP_054210506.1  protein broad-minded isoform X2

    2. XM_054354530.1 → XP_054210505.1  protein broad-minded isoform X1

    3. XM_054354534.1 → XP_054210509.1  protein broad-minded isoform X5

    4. XM_054354529.1 → XP_054210504.1  protein broad-minded isoform X1

    5. XM_054354533.1 → XP_054210508.1  protein broad-minded isoform X4

    6. XM_054354532.1 → XP_054210507.1  protein broad-minded isoform X3

    7. XM_054354536.1 → XP_054210511.1  protein broad-minded isoform X7

    8. XM_054354544.1 → XP_054210519.1  protein broad-minded isoform X13

    9. XM_054354547.1 → XP_054210522.1  protein broad-minded isoform X16

    10. XM_054354535.1 → XP_054210510.1  protein broad-minded isoform X6

    11. XM_054354542.1 → XP_054210517.1  protein broad-minded isoform X11

    12. XM_054354541.1 → XP_054210516.1  protein broad-minded isoform X11

    13. XM_054354538.1 → XP_054210513.1  protein broad-minded isoform X9

    14. XM_054354540.1 → XP_054210515.1  protein broad-minded isoform X10

    15. XM_054354539.1 → XP_054210514.1  protein broad-minded isoform X10

    16. XM_054354537.1 → XP_054210512.1  protein broad-minded isoform X8

    17. XM_054354543.1 → XP_054210518.1  protein broad-minded isoform X12

    18. XM_054354545.1 → XP_054210520.1  protein broad-minded isoform X14

    19. XM_054354546.1 → XP_054210521.1  protein broad-minded isoform X15

    20. XM_054354548.1 → XP_054210523.1  protein broad-minded isoform X17

    RNA

    1. XR_008487277.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NH3.4 GenPept UniProtKB/Swiss-Prot:Q96NH3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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