KRTCAP3 (keratinocyte associated protein 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 200634
Gene name Keratinocyte associated protein 3
Gene symbol KRTCAP3
Synonyms (NCBI Gene)
KCP3
Chromosome 2
Chromosome location 2p23.3
miRNA miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT1102159 hsa-miR-296-5p CLIP-seq
MIRT1102160 hsa-miR-3127-5p CLIP-seq
MIRT1102161 hsa-miR-3918 CLIP-seq
MIRT1102162 hsa-miR-4740-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619261 28943 ENSG00000157992
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53RY4
Protein name Keratinocyte-associated protein 3 (KCP-3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12304 BCLP 19 → 206 Beta-casein like protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skin, pancreas and keratinocytes. {ECO:0000269|PubMed:12752121}.
Sequence
Sequence length 240
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (4)
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
BARDET-BIEDL SYNDROME 20 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 71 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 20884846, 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
RETINITIS PIGMENTOSA 71 Retinitis Pigmentosa CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY Short-Rib Thoracic Dysplasia With Or Without Polydactyly CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations