K22E_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT2
, KRT2A, KRT2E
Protein names and data:
K22E_HUMAN
, Keratin, type II cytoskeletal 2 epidermal
, Cytokeratin-2e; CK-2e; Epithelial keratin-2e; Keratin-2 epidermis; Keratin-2e; K2e; Type-II keratin Kb2
Lenght: 639 a.a.
Mass: 65433 Da
fasta formatted sequence
Function:
Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.
Disease:
( OMIM:
146800
600194
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Expressed in the upper spinous and granular suprabasal layers of normal adult epidermal tissues from most body sites including thigh, breast nipple, foot sole, penile shaft and axilla. Not present in foreskin, squamous metaplasias and carcinomas. Expression in hypertrophic and keloid scars begins in the deepest suprabasal layer. Weakly expressed in normal gingiva and tongue, however expression is induced in benign keratoses of lingual mucosa and in mild-to-moderate oral dysplasia with orthokeratinization.
Genetic variants
101 - 101
S -> G (in dbSNP:rs2634041). VAR_058293
2634041
181 - 181
Q -> P (in IBS). VAR_003865
182 - 182
I -> N (in IBS; dbSNP:rs61622714). VAR_010514
61622714
186 - 186
N -> D (in IBS). VAR_010515
186 - 186
N -> K (in IBS; dbSNP:rs61726457). VAR_017829
61726457
186 - 186
N -> Y (in IBS; dbSNP:rs61726454). VAR_009185
61726454
219 - 219
G -> D (in dbSNP:rs638043). VAR_058294
638043
465 - 465
E -> D (in IBS). VAR_031082
465 - 465
E -> K (in IBS). VAR_031083
476 - 476
E -> K (in IBS; dbSNP:rs56829062). VAR_009186
56829062
476 - 476
E -> V (in IBS; dbSNP:rs60537449). VAR_031084
60537449
477 - 477
I -> N (in IBS). VAR_031085
479 - 479
T -> P (in IBS; dbSNP:rs61726453). VAR_009187
61726453
484 - 484
L -> P (in IBS; dbSNP:rs61726451). VAR_010516
61726451
487 - 487
E -> D (in IBS; dbSNP:rs61726450). VAR_003866
61726450
487 - 487
E -> K (in IBS; dbSNP:rs61726449). VAR_003867
61726449
488 - 488
E -> K (in IBS; dbSNP:rs61726452). VAR_031086
61726452
Database cross-references
UniProt:
P35908
Ensembl:
ENST00000309680
MIM:
146800
MIM:
600194
neXtProt:
NX_P35908
Antibodypedia:
P35908
(may not find the protein thus also not any antibody)
Local full text data:
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