Gene Gene information from NCBI Gene database.
Entrez ID 9674
Gene name KIAA0040
Gene symbol KIAA0040
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q25.1
miRNA miRNA information provided by mirtarbase database.
777
miRTarBase ID miRNA Experiments Reference
MIRT702501 hsa-miR-6776-3p HITS-CLIP 23313552
MIRT702500 hsa-miR-140-3p HITS-CLIP 23313552
MIRT702499 hsa-miR-101-5p HITS-CLIP 23313552
MIRT702498 hsa-miR-4709-5p HITS-CLIP 23313552
MIRT702497 hsa-miR-489-3p HITS-CLIP 23313552
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:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616696 28950 ENSG00000235750
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15053
Protein name Uncharacterized protein KIAA0040
Family and domains
Sequence
MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLLFICCHCCWSPPGKRGQ
QPEKNKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV
Sequence length 99
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE 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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 17362836
★☆☆☆☆
Found in Text Mining only
Melanoma Cutaneous Malignant Melanoma Pubtator 32639949 Associate
★☆☆☆☆
Found in Text Mining only
Migraine Disorders Migraine Pubtator 32632093 Associate
★☆☆☆☆
Found in Text Mining only