Laboratory of Cancer Molecular Biology, Department of Biological Sciences, Federal University of Sao Paulo, Diadema, SP, Brazil
- Isoform 1 is the canonical sequence with 211 amino acids and it weighs 22418 Da.
MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSA ALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGLAALVACSWYGHQIVTDFYNPLI PTNIKYEFGPAIFIGWAGSALVILGGALLSCSCPGNESKAGYRVPRSYPKSNSSKEYV
- Isoform 2 contains 145 amino acids, with a shorter C-terminus, lacking amino acids 159 to 211 in comparison to isoform 1. It weighs 15156 Da.
MANSGLQLLGFSMALLGWVGLVACTAIPQWQMSSYAGDNIITAQAMYKGLWMDCVTQSTGMMSCKMYDSVLALSA ALQATRALMVVSLVLGFLAMFVATMGMKCTRCGGDDKVKKARIAMGGGIIFIVAGMSLALPSLLAGQGLP
CLDN-7 is an integral membrane protein with four hydrophobic transmembrane domains and two extracellular loops which appear to be implicated in tight junction formation and with their amino- and carboxy-terminal tails extending into the cytoplasm (figure 2).
Polymorphisms According to the Ensembl database 12 variations could be present in the transcripts (variants 1/2) of CLDN-7: Position 963/396 of mRNA a synonymous G/A polymorphism at position 61 of the amino acid sequence. Position 979/412 of mRNA a non-synonymous G/T polymorphism at position 77 of the amino acid sequence. Switching an Ala for an Asp residue. SIFT deleterious. Position 1299/732 of mRNA a non-synonymous C/T polymorphism at position 397 of the amino acid sequence. Switching an Ala for an Thr residue. SIFT tolerated. Position 1425/858 of mRNA a non-synonymous C/A polymorphism at position 523 of the amino acid sequence. Switching an Val for an Phe residue. SIFT deleterious. Position 1492/925 of mRNA a non-synonymous A/G polymorphism at position 590 of the amino acid sequence. Switching an Val for an Ala residue. SIFT tolerated. Position 1508/941 of mRNA a synonymous A/C polymorphism at position 606 of the amino acid sequence.
NCBI: 1366 MIM: 609131 HGNC: 2049 Ensembl: ENSG00000181885
dbSNP: 1366 ClinVar: 1366 TCGA: ENSG00000181885 COSMIC: CLDN7
Ana Carolina de Carvalho ; Andre Vettore
CLDN7 (claudin 7)
Atlas Genet Cytogenet Oncol Haematol. 2011-08-01
Online version: http://atlasgeneticsoncology.org/gene/40099/gene-fusions-explorer/gene-explorer/favicon/favicon-32x32.png