KRTDAP (keratinocyte differentiation associated protein)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 388533
Gene name Keratinocyte differentiation associated protein
Gene symbol KRTDAP
Synonyms (NCBI Gene)
KDAPUNQ467
Chromosome 19
Chromosome location 19q13.12
Summary This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 15140226
GO:0008544 Process Epidermis development IBA
GO:0008544 Process Epidermis development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617212 16313 ENSG00000188508
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60985
Protein name Keratinocyte differentiation-associated protein
Protein function May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15200 KRTDAP 23 → 99 Keratinocyte differentiation-associated Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skin and detected at lower levels in thymus. In skin, found exclusively in lamellar granules of granular keratinocytes and in the intracellular space of the stratum corneum. Also highly expressed in oral mucosa, ton
Sequence
Sequence length 99
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene 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 (6)
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
APPENDICITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF APPENDIX — GWAS catalog
★★★★★
★★☆☆☆
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
Aortic Aneurysm Aortic Aneurysm BEFREE 29538353
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 29538353 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 36553569 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 32468250 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only