TCTN2 (tectonic family member 2)

2014-11-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
C12orf38,JBTS24,MKS8,TECT2
FUSION GENES

Other Information

Locus ID:

NCBI: 79867
MIM: 613846
HGNC: 25774
Ensembl: ENSG00000168778

Variants:

dbSNP: 79867
ClinVar: 79867
TCGA: ENSG00000168778
COSMIC: TCTN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168778ENST00000303372Q96GX1
ENSG00000168778ENST00000426174Q96GX1
ENSG00000168778ENST00000541523F5H6G0

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
215656112011Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.261
214622832011A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.32
298663622018Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.3
310501832019Overexpression of lncRNA TCTN2 protects neurons from apoptosis by enhancing cell autophagy in spinal cord injury.1

Citation

Dessen P

TCTN2 (tectonic family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74596/tctn2