CLDN11
entrez
5010
canonical
uniprot
O75508
canonical
ensembl
ENSG00000013297
resolver
ensp
ENSP00000064724
resolver
ensp
ENSP00000640155
resolver
enst
ENST00000064724
resolver
enst
ENST00000970096
resolver
genesymbol
CLDN11
resolver
genesymbol_syn
OSP
resolver
genesymbol_syn
OTM
resolver
hgnc
HGNC:8514
resolver
uniprot
B2R7C1
resolver
uniprot
D3DNQ5
resolver
uniprot
Q5U0P3
resolver
uniprot_entry
CLD11_HUMAN
resolver
uniprot_sec
B2R7C1
resolver
uniprot_sec
D3DNQ5
resolver
uniprot_sec
Q5U0P3
resolver
amino_acid_sequence
MVATCLQVVGFVTSFVGWIGVIVTTSTNDWVVTCGYTIPTCRKLDELGSKGLWADCVMATGLYHCKPLVDILILPGYVQACRALMIAASVLGLPAILLLLTVLPCIRMGQEPGVAKYRRAQLAGVLLILLALCALVATIWFPVCAHRETTIVSFGYSLYAGWIGAVLCLVGGCVILCCAGDAQAFGENRFYYTAGSSSPTHAKSAHV
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 22 (HLD22) [MIM:619328]: An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy. {ECO:0000269|PubMed:33313762}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000269|PubMed:30734065}.
uniprot
proteins
mass_dalton
21993
uniprot
proteins
protein_family
Claudin family
uniprot
proteins
pubmed
10700007
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20375010
uniprot
proteins
pubmed
30734065
uniprot
proteins
pubmed
33313762
uniprot
proteins
pubmed
33991082
uniprot
proteins
sequence_length
207
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:30734065}. Cell membrane {ECO:0000269|PubMed:20375010}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..22; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 83..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 158..178; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins