Gene Gene information from NCBI Gene database.
Entrez ID 100129271
Gene name KPRP N-terminal and LCE C-terminal like protein
Gene symbol KPLCE
Synonyms (NCBI Gene)
C1orf68LEP7XP32
Chromosome 1
Chromosome location 1q21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0008544 Process Epidermis development NAS 9344646
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T750
Protein name Protein KPLCE (KPRP N-terminal and LCE C-terminal-like protein) (Skin-specific protein 32)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Skin-specific. {ECO:0000269|PubMed:25411189, ECO:0000269|PubMed:9344646}.
Sequence
MCDQQKQPQFPPSCVKGSGLGAGQGSNGASVKCPVPCQTQTVCVTGPAPCPTQTYVKYQV
PCQTQTYVKCPAPCQRTYVKYPTPCQTYVKCPAPCQTTYVKCPTPCQTYVKCPAPCQMTY
IKSPAPCQTQTCYVQGASPCQSYYVQAPASGSTSQYCVTDPCSAPCSTSYCCLAPRTFGV
SPLRRWIQRPQNCNTGSSGCCENSGSSGCCGSGGCGCSCGCGSSGCCCLGIIPMRSRGPA
CCDHEDDCCC
Sequence length 250
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
PSORIASIS GWAS catalog
★★☆☆☆
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
Carcinoma of bladder Bladder carcinoma BEFREE 31384924
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of urinary bladder Urinary bladder cancer BEFREE 31384924
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis GWASCAT_DG 25854761
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 31384924 Associate
★☆☆☆☆
Found in Text Mining only