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

    Gene ID: 79867, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:25774
    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
    mouse all
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    Genomic context

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    See TCTN2 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123671113..123708399)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123669981..123707267)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124155660..124192946)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7273 Neighboring gene DEAD-box helicase 55 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124129599-124129794 Neighboring gene eukaryotic translation initiation factor 2B subunit alpha Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124143885-124145084 Neighboring gene general transcription factor IIH subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7274 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124184156-124184331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5049 Neighboring gene uncharacterized LOC105370042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124206184-124206364 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5050 Neighboring gene uncharacterized LOC105370044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7275 Neighboring gene dynein axonemal heavy chain 10

    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 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. LncRNA TCTN2 Promotes the Malignant Development of Hepatocellular Carcinoma via Regulating mIR-1285-3p/ARF6 Axis. Liu Q, et al. Recent Pat Anticancer Drug Discov, 2023. PMID 36278455
    2. A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin. Litz Philipsborn S, et al. Am J Med Genet A, 2021 May. PMID 33590725
    3. Two novel TCTN2 mutations cause Meckel-Gruber syndrome. Zhang M, et al. J Hum Genet, 2020 Nov. PMID 32655147, Free PMC Article
    4. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Shaheen R, et al. Hum Mutat, 2011 Jun. PMID 21462283
    5. Overexpression of lncRNA TCTN2 protects neurons from apoptosis by enhancing cell autophagy in spinal cord injury. Ren XD, et al. FEBS Open Bio, 2019 Jul. PMID 31050183, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA TCTN2 Promotes the Malignant Development of Hepatocellular Carcinoma via Regulating mIR-1285-3p/ARF6 Axis.
      Title: LncRNA TCTN2 Promotes the Malignant Development of Hepatocellular Carcinoma via Regulating mIR-1285-3p/ARF6 Axis.
    2. A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
      Title: A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.
    3. Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
      Title: Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
    4. Data suggest that TCTN2 enhances autophagy by targeting the miR-216b-Beclin-1 pathway, thereby ameliorating neuronal apoptosis and relieving spinal cord injury.
      Title: Overexpression of lncRNA TCTN2 protects neurons from apoptosis by enhancing cell autophagy in spinal cord injury.
    5. TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening
      Title: Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.
    6. a truncating mutation in TCTN2 linked to Meckel Gruber syndrome was shown.
      Title: A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
    7. Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2).
      Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
    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 24
    MedGen: C4084841 OMIM: 616654 GeneReviews: Joubert Syndrome
    		Compare labs
    Meckel syndrome, type 8
    MedGen: C3836857 OMIM: 613885 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

    • FLJ12975

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  

    General protein information

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    Preferred Names
    tectonic-2

    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_030442.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001143850.3 → NP_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/TrEMBL
      A0A7P0T886
      Related
      ENSP00000395171.2, ENST00000426174.6
      Conserved Domains (1) summary
      pfam07773
      Location:170 → 443
      DUF1619; Protein of unknown function (DUF1619)

    2. NM_001410989.1 → NP_001397918.1  tectonic-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC117503
      Consensus CDS
      CCDS91766.1
      UniProtKB/TrEMBL
      A0A7P0T8X4
      Related
      ENSP00000505356.1, ENST00000680574.1

    3. NM_024809.5 → NP_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
      A8K7Y8, B3KPW5, Q96GX1, Q9H966
      UniProtKB/TrEMBL
      A0A7P0T886
      Related
      ENSP00000304941.5, ENST00000303372.7
      Conserved Domains (1) summary
      pfam07773
      Location:171 → 444
      DUF1619; Protein of unknown function (DUF1619)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123671113..123708399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019974.2 → XP_016875463.1  tectonic-2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T886

    2. XM_047429553.1 → XP_047285509.1  tectonic-2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123669981..123707267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373248.1 → XP_054229223.1  tectonic-2 isoform X1

    2. XM_054373249.1 → XP_054229224.1  tectonic-2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GX1.1 GenPept UniProtKB/Swiss-Prot:Q96GX1

    Gene LinkOut

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

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