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    TCTN2 tectonic family member 2 [ Homo sapiens (human) ]

    Gene ID: 79867, updated on 8-Jul-2021

    Summary

    Official Symbol
    TCTN2provided by HGNC
    Official Full Name
    tectonic family member 2provided by HGNC
    Primary source
    HGNC:HGNC:25774
    See related
    Ensembl:ENSG00000168778 MIM:613846
    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
    MKS8; TECT2; JBTS24; C12orf38
    Summary
    This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in testis (RPKM 7.3), thyroid (RPKM 7.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TCTN2 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123671108..123708405)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124155660..124192946)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 55 Neighboring gene eukaryotic translation initiation factor 2B subunit alpha Neighboring gene general transcription factor IIH subunit 3 Neighboring gene uncharacterized LOC105370042 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene uncharacterized LOC105370044 Neighboring gene dynein axonemal heavy chain 10

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12975

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_030442.1 RefSeqGene

      Range
      5001..42287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143850.3NP_001137322.1  tectonic-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001137322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 1. This results in a shorter isoform (2) missing 1 aa compared to isoform 1.
      Source sequence(s)
      AK292153, BC009112, BQ774678
      Consensus CDS
      CCDS45007.1
      UniProtKB/Swiss-Prot
      Q96GX1
      Related
      ENSP00000395171.2, ENST00000426174.6
      Conserved Domains (1) summary
      pfam07773
      Location:170443
      DUF1619; Protein of unknown function (DUF1619)
    2. NM_024809.5NP_079085.2  tectonic-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_079085.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK292153, BC009112, BQ774678
      Consensus CDS
      CCDS9253.1
      UniProtKB/Swiss-Prot
      Q96GX1
      Related
      ENSP00000304941.5, ENST00000303372.7
      Conserved Domains (1) summary
      pfam07773
      Location:171444
      DUF1619; Protein of unknown function (DUF1619)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      123671108..123708405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019975.1XP_016875464.1  tectonic-2 isoform X4

      Conserved Domains (1) summary
      pfam07773
      Location:1140
      DUF1619; Protein of unknown function (DUF1619)
    2. XM_005253623.2XP_005253680.1  tectonic-2 isoform X2

      Related
      ENSP00000505356.1, ENST00000680574.1
      Conserved Domains (1) summary
      pfam07773
      Location:171399
      DUF1619; Protein of unknown function (DUF1619)
    3. XM_017019974.1XP_016875463.1  tectonic-2 isoform X3

    4. XM_006719605.3XP_006719668.1  tectonic-2 isoform X1

      Related
      ENSP00000505006.1, ENST00000679504.1
      Conserved Domains (1) summary
      pfam07773
      Location:171444
      DUF1619; Protein of unknown function (DUF1619)
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