TCTN2 Gene (Protein Coding)

Tectonic Family Member 2

GC12P123671
GIFtS:
39
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 RefSe... See more...

Aliases for TCTN2 Gene

Aliases for TCTN2 Gene

  • Tectonic Family Member 2 2 3 5
  • TECT2 2 3 4
  • Tectonic-2 3 4
  • C12orf38 3 4
  • JBTS24 2 3
  • MKS8 2 3
  • Chromosome 12 Open Reading Frame 38 2
  • Meckel Syndrome, Type 8 2
  • FLJ12975 2
  • TCTN2 5

External Ids for TCTN2 Gene

Previous HGNC Symbols for TCTN2 Gene

  • C12orf38

Previous GeneCards Identifiers for TCTN2 Gene

  • GC12P122723
  • GC12P124155
  • GC12P121116

Summaries for TCTN2 Gene

Entrez Gene Summary for TCTN2 Gene

  • 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]

GeneCards Summary for TCTN2 Gene

TCTN2 (Tectonic Family Member 2) is a Protein Coding gene. Diseases associated with TCTN2 include Meckel Syndrome, Type 8 and Joubert Syndrome 24. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TCTN1.

UniProtKB/Swiss-Prot Summary for TCTN2 Gene

  • Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).

Additional gene information for TCTN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCTN2 Gene

Genomics for TCTN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TCTN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCTN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCTN2

Top Transcription factor binding sites by QIAGEN in the TCTN2 gene promoter:
  • C/EBPalpha
  • CBF(2)
  • E4BP4
  • FOXF2
  • HEN1
  • Msx-1
  • NF-Y
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2

Genomic Locations for TCTN2 Gene

Latest Assembly
chr12:123,671,108-123,708,405
(GRCh38/hg38)
Size:
37,298 bases
Orientation:
Plus strand

Previous Assembly
chr12:124,155,660-124,192,946
(GRCh37/hg19 by Entrez Gene)
Size:
37,287 bases
Orientation:
Plus strand

chr12:124,155,660-124,192,948
(GRCh37/hg19 by Ensembl)
Size:
37,289 bases
Orientation:
Plus strand

Genomic View for TCTN2 Gene

Genes around TCTN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCTN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TCTN2 Gene

Proteins for TCTN2 Gene

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  • Protein details for TCTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GX1-TECT2_HUMAN
    Recommended name:
    Tectonic-2
    Protein Accession:
    Q96GX1
    Secondary Accessions:
    • A8K7Y8
    • B3KPW5
    • Q9H966

    Protein attributes for TCTN2 Gene

    Size:
    697 amino acids
    Molecular mass:
    76871 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).
    SequenceCaution:
    • Sequence=BAB14370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TCTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCTN2 Gene

Protein Expression for TCTN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TCTN2 Gene

  • Glycosylation at Asn146, Asn156, Asn372, Asn391, Asn497, and Asn636
  • Ubiquitination at Lys443
  • Modification sites at PhosphoSitePlus

Other Protein References for TCTN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCTN2 Gene

Domains & Families for TCTN2 Gene

Gene Families for TCTN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TCTN2 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for TCTN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77777 (A8K7Y8_HUMAN)
  • Tectonic-2 (TECT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GX1

UniProtKB/Swiss-Prot:

TECT2_HUMAN :
  • Belongs to the tectonic family.
Family:
  • Belongs to the tectonic family.
genes like me logo Genes that share domains with TCTN2: view

Function for TCTN2 Gene

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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for TCTN2 Gene

UniProtKB/Swiss-Prot Function:
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).

Phenotypes From GWAS Catalog for TCTN2 Gene

genes like me logo Genes that share phenotypes with TCTN2: view

Human Phenotype Ontology for TCTN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCTN2 Gene

MGI Knock Outs for TCTN2:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCTN2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TCTN2 Gene

Localization for TCTN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCTN2 Gene

Membrane. Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCTN2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
golgi apparatus 2
extracellular 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IEA --
genes like me logo Genes that share ontologies with TCTN2: view

Pathways & Interactions for TCTN2 Gene

genes like me logo Genes that share pathways with TCTN2: view

Pathways by source for TCTN2 Gene

Gene Ontology (GO) - Biological Process for TCTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IEA,ISS --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IEA,ISS --
GO:0097711 ciliary basal body-plasma membrane docking TAS --
GO:1904491 protein localization to ciliary transition zone IEA,IBA 21873635
genes like me logo Genes that share ontologies with TCTN2: view

No data available for SIGNOR curated interactions for TCTN2 Gene

Drugs & Compounds for TCTN2 Gene

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No Compound Related Data Available

Transcripts for TCTN2 Gene

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mRNA/cDNA for TCTN2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCTN2

Alternative Splicing Database (ASD) splice patterns (SP) for TCTN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - -
SP2:
SP3: -
SP4:

Relevant External Links for TCTN2 Gene

GeneLoc Exon Structure for
TCTN2

Expression for TCTN2 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCTN2 Gene

mRNA expression in normal human tissues for TCTN2 Gene
mRNA expression by GTEx for TCTN2 GenemRNA expression by BioGPS for TCTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCTN2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCTN2 Gene



Protein tissue co-expression partners for TCTN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCTN2

SOURCE GeneReport for Unigene cluster for TCTN2 Gene:

Hs.167165

Evidence on tissue expression from TISSUES for TCTN2 Gene

  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TCTN2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCTN2 Gene

Orthologs for TCTN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCTN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TCTN2 30 31
  • 98.05 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TCTN2 30 31
  • 84.33 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TCTN2 30 31
  • 83.18 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tctn2 30 17 31
  • 74.9 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tctn2 30
  • 74.52 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TCTN2 31
  • 66 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TCTN2 31
  • 53 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TCTN2 30 31
  • 60.31 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tctn2 30
  • 54.89 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tctn2 30 31
  • 48.17 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToOne
Species where no ortholog for TCTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TCTN2 Gene

ENSEMBL:
Gene Tree for TCTN2 (if available)
TreeFam:
Gene Tree for TCTN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCTN2: view image

Paralogs for TCTN2 Gene

Paralogs for TCTN2 Gene

genes like me logo Genes that share paralogs with TCTN2: view

Variants for TCTN2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCTN2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
881226 Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 123,673,648(+) G/T
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) 		MISSENSE
881227 Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 123,679,182(+) T/A
NM_024809.5(TCTN2):c.464-7T>A 		INTRON
881228 Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 123,679,215(+) G/T
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) 		MISSENSE
881278 Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 123,687,023(+) A/G
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) 		MISSENSE
881279 Uncertain Significance: Meckel syndrome type 8; Joubert syndrome 24 123,688,082(+) T/C
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TCTN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TCTN2 Gene

Variant ID Type Subtype PubMed ID
dgv1566n100 CNV gain 25217958
dgv1567n100 CNV gain 25217958
dgv1568n100 CNV loss 25217958
dgv2926n54 CNV gain 21841781
dgv309e214 CNV gain 21293372
esv2759918 CNV gain 17122850
esv35148 CNV gain 17911159
nsv1051385 CNV gain 25217958
nsv1052065 CNV gain+loss 25217958
nsv442292 CNV gain 18776908
nsv455733 CNV gain 19166990
nsv519344 CNV gain 19592680
nsv524660 CNV gain 19592680
nsv832534 CNV loss 17160897

Variation tolerance for TCTN2 Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCTN2 Gene

Human Gene Mutation Database (HGMD)
TCTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTN2 Gene

Disorders for TCTN2 Gene

MalaCards: The human disease database

(35) MalaCards diseases for TCTN2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TCTN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECT2_HUMAN
  • Meckel syndrome 8 (MKS8) [MIM:613885]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:21462283}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Joubert syndrome 24 (JBTS24) [MIM:616654]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO:0000269 PubMed:21565611, ECO:0000269 PubMed:25118024}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TCTN2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TCTN2: view

No data available for Genatlas for TCTN2 Gene

Publications for TCTN2 Gene

  1. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. (PMID: 21462283) Shaheen R … Alkuraya FS (Human mutation 2011) 2 3 4 74
  2. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L … Jackson PK (Cell 2011) 3 4 74
  3. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PMID: 16357211) Reiter JF … Skarnes WC (Genes & development 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for TCTN2 gene in Mastermind

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