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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
Title: Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
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.
TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening
Title: Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.
a truncating mutation in TCTN2 linked to Meckel Gruber syndrome was shown.
Title: A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

RH80030 (e-PCR)
- UniSTS:87680

L17877 (e-PCR)
- UniSTS:61334

G64592 (e-PCR)
- UniSTS:163742

L17809 (e-PCR)
- UniSTS:39087

G64591 (e-PCR)
- UniSTS:163797

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

NG_030442.1 RefSeqGene

Range

5001..42287

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
NM_001410989.1 → NP_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
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)