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

Gene ID: 79867, updated on 23-Nov-2023

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; 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
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Genomic context

See TCTN2 in Genome Data Viewer
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

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

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
 

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_001143850.3NP_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/TrEMBL
    A0A7P0T886
    Related
    ENSP00000395171.2, ENST00000426174.6
    Conserved Domains (1) summary
    pfam07773
    Location:170443
    DUF1619; Protein of unknown function (DUF1619)
  2. NM_001410989.1NP_001397918.1  tectonic-2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC117503
    Consensus CDS
    CCDS91766.1
    UniProtKB/TrEMBL
    A0A7P0T886, A0A7P0T8X4
    Related
    ENSP00000505356.1, ENST00000680574.1
  3. 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
    A8K7Y8, B3KPW5, Q96GX1, Q9H966
    UniProtKB/TrEMBL
    A0A7P0T886
    Related
    ENSP00000304941.5, ENST00000303372.7
    Conserved Domains (1) summary
    pfam07773
    Location:171444
    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_017019974.2XP_016875463.1  tectonic-2 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T886
  2. XM_047429553.1XP_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_054373248.1XP_054229223.1  tectonic-2 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T886
  2. XM_054373249.1XP_054229224.1  tectonic-2 isoform X2