Format

Send to:

Choose Destination

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

Gene ID: 79867, updated on 12-Oct-2019

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

Genomic context

See TCTN2 in Genome Data Viewer
Location:
12q24.31
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123671108..123708405)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124155660..124192950)

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

Pathways from BioSystems

  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

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

NCBI Reference Sequences (RefSeq)

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 Annotation Release 109.20190905

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

    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

    Conserved Domains (1) summary
    pfam07773
    Location:171444
    DUF1619; Protein of unknown function (DUF1619)
Support Center