KERA
entrez
11081
canonical
uniprot
O60938
canonical
ensembl
ENSG00000139330
resolver
ensp
ENSP00000266719
resolver
enst
ENST00000266719
resolver
genesymbol
KERA
resolver
genesymbol_syn
SLRR2B
resolver
hgnc
HGNC:6309
resolver
uniprot_entry
KERA_HUMAN
resolver
amino_acid_sequence
MAGTICFIMWVLFITDTVWSRSVRQVYEVHDSDDWTIHDFECPMECFCPPSFPTALYCENRGLKEIPAIPSRIWYLYLQNNLIETIPEKPFENATQLRWINLNKNKITNYGIEKGALSQLKKLLFLFLEDNELEEVPSPLPRSLEQLQLARNKVSRIPQGTFSNLENLTLLDLQNNKLVDNAFQRDTFKGLKNLMQLNMAKNALRNMPPRLPANTMQLFLDNNSIEGIPENYFNVIPKVAFLRLNHNKLSDEGLPSRGFDVSSILDLQLSHNQLTKVPRISAHLQHLHLDHNKIKSVNVSVICPSPSMLPAERDSFSYGPHLRYLRLDGNEIKPPIPMALMTCFRLLQAVII
uniprot
proteins
disease_involvement
DISEASE: Cornea plana 2, autosomal recessive (CNA2) [MIM:217300]: A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea. {ECO:0000269|PubMed:10802664, ECO:0000269|PubMed:11726611}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix. {ECO:0000305|PubMed:10802664, ECO:0000305|PubMed:11726611}.
uniprot
proteins
mass_dalton
40509
uniprot
proteins
post_translational_modification
PTM: Binds keratan sulfate chains. {ECO:0000250}.
uniprot
proteins
protein_family
SLRP class II subfamily
uniprot
proteins
protein_family
Small leucine-rich proteoglycan (SLRP) family
uniprot
proteins
pubmed
10565548
uniprot
proteins
pubmed
10802664
uniprot
proteins
pubmed
11683372
uniprot
proteins
pubmed
11726611
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
sequence_length
352
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins