KRTCAP2 (keratinocyte associated protein 2)

Gene

• Entrez ID: 200185
• Gene name: Keratinocyte associated protein 2
• Gene symbol: KRTCAP2
• Synonyms (NCBI Gene): KCP2
• Chromosome: 1
• Chromosome location: 1q22

Gene ontology (GO)

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
GO:0006487	Process	Protein N-linked glycosylation	IMP	22467853
GO:0008047	Function	Enzyme activator activity	IMP	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	22467853, 28860277
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IDA	28860277
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	28860277
GO:0160226	Component	Oligosaccharyltransferase complex A	IDA	28860277

Other IDs

• MIM: 619029
• HGNC: 28942
• e!Ensembl: ENSG00000163463

Protein

• UniProt ID: 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

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Protein processing in endoplasmic reticulum

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	37551622	★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	39384777	★☆☆☆☆ Found in Text Mining only
Klinefelter Syndrome	Associate	37083227	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	19924550, 24460302	★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Associate	37083227	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Associate	34630418	★☆☆☆☆ Found in Text Mining only