Gene Gene information from NCBI Gene database.
Entrez ID 3855
Gene name Keratin 7
Gene symbol KRT7
Synonyms (NCBI Gene)
CK7K2C7K7SCL
Chromosome 12
Chromosome location 12q13.13
Summary The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep
miRNA miRNA information provided by mirtarbase database.
98
miRTarBase ID miRNA Experiments Reference
MIRT000331 hsa-miR-133a-3p Review 20026422
MIRT003324 hsa-miR-199a-3p Review 20026422
MIRT004939 hsa-miR-30a-3p ImmunoblotqRT-PCR 19378336
MIRT000331 hsa-miR-133a-3p ImmunoblotqRT-PCR 19378336
MIRT003324 hsa-miR-199a-3p ImmunoblotqRT-PCR 19378336
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
FOXA1 Activation 20043065
TAL1 Unknown 20140202
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11169732, 21149639, 29721183, 31694235, 32867128
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IDA 2459129
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
148059 6445 ENSG00000135480
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08729
Protein name Keratin, type II cytoskeletal 7 (Cytokeratin-7) (CK-7) (Keratin-7) (K7) (Sarcolectin) (Type-II keratin Kb7)
Protein function Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7).
PDB 4XIF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 48 87 Keratin type II head Family
PF00038 Filament 90 402 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in cultured epidermal, bronchial and mesothelial cells but absent in colon, ectocervix and liver. Observed throughout the glandular cells in the junction between stomach and esophagus but is absent in the esophagus. {ECO:0000
Sequence
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COPPER-OVERLOAD CIRRHOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10688671, 1756722, 30185409
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12580964, 7579412
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 11390401, 1311214, 14513050, 2467296, 2602361, 28179281
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 14631371, 15489654, 15894926, 18317225
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 24029707, 24324581, 24775604, 28693143, 30443294, 30832497, 31646818
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11141476
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25117316, 25175030, 26306784, 26603857, 29415661, 30539871
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 31105427
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16133982, 31593035
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 18602664
★☆☆☆☆
Found in Text Mining only