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

Gene ID: 79867, updated on 3-Apr-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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Location:
12q24.31
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123671113..123708399)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123669981..123707267)
105.20220307 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
  • 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. 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
  5. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Shaheen R, et al. Hum Mutat, 2011 Jun. PMID 21462283

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_2023_10

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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