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    TCTN3 tectonic family member 3 [ Homo sapiens (human) ]

    Gene ID: 26123, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TCTN3provided by HGNC
    Official Full Name
    tectonic family member 3provided by HGNC
    Primary source
    HGNC:HGNC:24519
    See related
    Ensembl:ENSG00000119977 MIM:613847; AllianceGenome:HGNC:24519
    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
    OFD4; TECT3; JBTS18; C10orf61
    Summary
    This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 49.4), ovary (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95663401..95693927, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (96542501..96573034, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (97423158..97453684, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3716 Neighboring gene RPS3A pseudogene 36 Neighboring gene aldehyde dehydrogenase 18 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3801 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97454143-97454644 Neighboring gene MPRA-validated peak1056 silencer Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2650 Neighboring gene ENTPD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3811 Neighboring gene Sharpr-MPRA regulatory region 13404 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:97645298-97645457 Neighboring gene MPRA-validated peak1059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3814 Neighboring gene coiled-coil and C2 domain containing 2B Neighboring gene ribosomal protein L21 pseudogene 90

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Hussain S, et al. Ann Hum Genet, 2022 Nov. PMID 36039988, Free PMC Article
    2. Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly. Chen HX, et al. J Cell Mol Med, 2020 Dec. PMID 33098376, Free PMC Article
    3. TCTN3 mutations cause Mohr-Majewski syndrome. Thomas S, et al. Am J Hum Genet, 2012 Aug 10. PMID 22883145, Free PMC Article
    4. Identification of novel regulators of apoptosis using a high-throughput cell-based screen. Park KM, et al. Mol Cells, 2007 Apr 30. PMID 17464193
    5. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Reiter JF, et al. Genes Dev, 2006 Jan 1. PMID 16357211, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
      Title: A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.
    2. Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
      Title: Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
    3. TCTN3 mutations cause Mohr-Majewski syndrome.
      Title: TCTN3 mutations cause Mohr-Majewski syndrome.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    Associated conditions

    Description Tests
    Familial aplasia of the vermis
    MedGen: C0431399 GeneReviews: Joubert Syndrome
    		Compare labs
    Joubert syndrome 18
    MedGen: C3553758 OMIM: 614815 GeneReviews: Joubert Syndrome
    		Compare labs
    Orofacial-digital syndrome IV
    MedGen: C0406727 OMIM: 258860 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • DKFZp564D116

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tectonic-3

    NCBI Reference Sequences (RefSeq)

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    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_032953.1 RefSeqGene

      Range
      5217..35743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143973.2 → NP_001137445.1  tectonic-3 isoform b precursor

      See identical proteins and their annotated locations for NP_001137445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four alternate exons in the mid coding region, compared to variant 1, which results in the loss of two in-frame segments. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AI375376, AK299141, BI561516
      Consensus CDS
      CCDS44461.1
      UniProtKB/TrEMBL
      A0A7P0TA64
      Related
      ENSP00000387567.1, ENST00000430368.6
      Conserved Domains (1) summary
      pfam07773
      Location:90 → 242
      DUF1619; Protein of unknown function (DUF1619)

    2. NM_001410982.1 → NP_001397911.1  tectonic-3 isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AL356632
      Consensus CDS
      CCDS91309.1
      UniProtKB/TrEMBL
      A0A7P0TB57
      Related
      ENSP00000506398.1, ENST00000680144.1

    3. NM_015631.6 → NP_056446.4  tectonic-3 isoform a precursor

      See identical proteins and their annotated locations for NP_056446.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC068449, CN427798
      Consensus CDS
      CCDS31258.2
      UniProtKB/Swiss-Prot
      A6NIC8, B0QZ90, B4DR81, Q6NUS6, Q6P7P3, Q6UW27, Q6ZQQ0, Q8N7K1, Q8NBQ0, Q96GF7, Q9Y3U1
      UniProtKB/TrEMBL
      A0A0C4DFN5
      Related
      ENSP00000360261.5, ENST00000371217.10
      Conserved Domains (1) summary
      pfam07773
      Location:90 → 390
      DUF1619; Protein of unknown function (DUF1619)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      95663401..95693927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425042.1 → XP_047280998.1  tectonic-3 isoform X5

    2. XM_005269690.3 → XP_005269747.2  tectonic-3 isoform X2

    3. XM_047425041.1 → XP_047280997.1  tectonic-3 isoform X4

    4. XM_011539627.3 → XP_011537929.2  tectonic-3 isoform X1

      Related
      ENSP00000483364.2, ENST00000614499.5

    5. XM_011539628.3 → XP_011537930.2  tectonic-3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      96542501..96573034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365526.1 → XP_054221501.1  tectonic-3 isoform X5

    2. XM_054365523.1 → XP_054221498.1  tectonic-3 isoform X2

    3. XM_054365525.1 → XP_054221500.1  tectonic-3 isoform X4

    4. XM_054365522.1 → XP_054221497.1  tectonic-3 isoform X1

    5. XM_054365524.1 → XP_054221499.1  tectonic-3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUS6.2 GenPept UniProtKB/Swiss-Prot:Q6NUS6

    Gene LinkOut

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

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