KRTCAP2 (keratinocyte associated protein 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 200185
Gene name Keratinocyte associated protein 2
Gene symbol KRTCAP2
Synonyms (NCBI Gene)
KCP2
Chromosome 1
Chromosome location 1q22
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 21768116
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0006486 Process Protein glycosylation IEA
GO:0006487 Process Protein N-linked glycosylation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
619029 28942 ENSG00000163463
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N6L1
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2 (Oligosaccharyl transferase subunit KCP2) (Keratinocyte-associated protein 2) (KCP-2)
Protein function Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09775 Keratin_assoc 3 → 133 Keratinocyte-associated protein 2 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, skeletal muscle, kidney, pancreas, keratinocytes and dermal fibroblasts. {ECO:0000269|PubMed:12752121}.
Sequence 
MVVGTGTSLALSSLLSLLLFAGMQMYSRQLASTEWLTIQGGLLGSGLFVFSLTAFNNLEN
LVFGKGFQAKIFPEILLCLLLALFASGLIHRVCVTTCFIFSMVGLYYINKISSTLYQAAA
PVLTPAKVTGKSKKRN
Sequence length 136
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Protein processing in endoplasmic reticulum
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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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.
Show/Hide Unknown Diseases (15)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35851147
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME — GWAS catalog 37977914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT — GWAS catalog 34127677
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE — GWAS catalog 26974007
★★★★★
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 37551622 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 19924550, 24460302 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Testicular Diseases Testicular disease Pubtator 37083227 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Uveal melanoma Uveal melanoma Pubtator 34630418 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
TMEM258 2 shared diseasesPeptic ulcer disease, Sclerosing cholangitis 3 shared pathwaysN-Glycan biosynthesis, Various types of N-glycan biosynthesis, Protein processing in endoplasmic reticulum 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Peptic ulcer disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared pathways including N-Glycan biosynthesis, Various types of N-glycan biosynthesis — evidence mostly GWAS catalog. UBQLN4 2 shared diseasesLewy body disease, Peptic ulcer disease 1 shared pathwayProtein processing in endoplasmic reticulum 2 shared evidence sourcesGWAS catalog (Lewy body disease), GWAS catalog (Peptic ulcer disease) Related via 2 shared diseases including Lewy body disease, Peptic ulcer disease — evidence mostly GWAS catalog. SPATA31F1 2 shared diseasesGastric cancer, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Gastric cancer), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Gastric cancer, Sclerosing cholangitis — evidence mostly GWAS catalog. STT3B 3 shared pathwaysN-Glycan biosynthesis, Various types of N-glycan biosynthesis, Protein processing in endoplasmic reticulum Related via 3 shared pathways including N-Glycan biosynthesis, Various types of N-glycan biosynthesis. OSTC 3 shared pathwaysN-Glycan biosynthesis, Various types of N-glycan biosynthesis, Protein processing in endoplasmic reticulum Related via 3 shared pathways including N-Glycan biosynthesis, Various types of N-glycan biosynthesis.
Rheumatoid arthritis Linked via 2 of 5 related genesTMEM258, SPATA31F1 Amyotrophic lateral sclerosis Linked via 2 of 5 related genesUBQLN4, OSTC Aortic stenosis Linked via 1 of 5 related genesTMEM258 Asthma Linked via 1 of 5 related genesTMEM258 Eczema Linked via 1 of 5 related genesTMEM258