KRT2
entrez
3849
canonical
uniprot
P35908
canonical
ensembl
ENSG00000172867
resolver
ensp
ENSP00000310861
resolver
enst
ENST00000309680
resolver
genesymbol
KRT2
resolver
genesymbol_syn
KRT2A
resolver
genesymbol_syn
KRT2E
resolver
hgnc
HGNC:6439
resolver
uniprot
Q4VAQ2
resolver
uniprot_entry
K22E_HUMAN
resolver
uniprot_sec
Q4VAQ2
resolver
amino_acid_sequence
MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLSRHGGGGGGFGGGGFGSRSLVGLGGTKSISISVAGGGGGFGAAGGFGGRGGGFGGGSSFGGGSGFSGGGFGGGGFGGGRFGGFGGPGGVGGLGGPGGFGPGGYPGGIHEVSVNQSLLQPLNVKVDPEIQNVKAQEREQIKTLNNKFASFIDKVRFLEQQNQVLQTKWELLQQMNVGTRPINLEPIFQGYIDSLKRYLDGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRTAAENDFVTLKKDVDNAYMIKVELQSKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVILSMDNSRNLDLDSIIAEVKAQYEEIAQRSKEEAEALYHSKYEELQVTVGRHGDSLKEIKIEISELNRVIQRLQGEIAHVKKQCKNVQDAIADAEQRGEHALKDARNKLNDLEEALQQAKEDLARLLRDYQELMNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSTISSNVASKAAFGGSGGRGSSSGGGYSSGSSSYGSGGRQSGSRGGSGGGGSISGGGYGSGGGSGGRYGSGGGSKGGSISGGGYGSGGGKHSSGGGSRGGSSSGGGYGSGGGGSSSVKGSSGEAFGSSVTFSFR
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]: A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints. {ECO:0000269|PubMed:10084318, ECO:0000269|PubMed:10233323, ECO:0000269|PubMed:10564334, ECO:0000269|PubMed:10620137, ECO:0000269|PubMed:10688369, ECO:0000269|PubMed:11167982, ECO:0000269|PubMed:11531804, ECO:0000269|PubMed:15949009, ECO:0000269|PubMed:17408392, ECO:0000269|PubMed:7521371, ECO:0000269|PubMed:7524919, ECO:0000269|PubMed:8077693, ECO:0000269|PubMed:9036938, ECO:0000269|PubMed:9204966, ECO:0000269|PubMed:9804344, ECO:0000269|PubMed:9833038}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in suprabasal keratinocytes of stratified epidermis. Forms heteropolymers with type I keratins (e.g., KRT10), assembling into keratin intermediate filament networks that support mechanical integrity and resilience of the differentiating epidermis (PubMed:12598329, PubMed:1380918). Contributes to terminal differentiation and cornification of keratinocytes and plays a role in establishing the epidermal barrier (PubMed:9804344). {ECO:0000269|PubMed:12598329, ECO:0000269|PubMed:1380918, ECO:0000269|PubMed:9804344}.
uniprot
proteins
mass_dalton
65433
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10084318
uniprot
proteins
pubmed
10233306
uniprot
proteins
pubmed
10233323
uniprot
proteins
pubmed
10564334
uniprot
proteins
pubmed
10620137
uniprot
proteins
pubmed
10688369
uniprot
proteins
pubmed
11167982
uniprot
proteins
pubmed
11531804
uniprot
proteins
pubmed
12598329
uniprot
proteins
pubmed
1380918
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15949009
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17408392
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32179842
uniprot
proteins
pubmed
7521371
uniprot
proteins
pubmed
7524919
uniprot
proteins
pubmed
8077693
uniprot
proteins
pubmed
9036938
uniprot
proteins
pubmed
9204966
uniprot
proteins
pubmed
9804344
uniprot
proteins
pubmed
9833038
uniprot
proteins
sequence_length
639
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32179842}.
uniprot
proteins