C17orf99 (chromosome 17 open reading frame 99)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100141515
Gene name Chromosome 17 open reading frame 99
Gene symbol C17orf99
Synonyms (NCBI Gene)
IL-40UNQ464
Chromosome 17
Chromosome location 17q25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002313 Process Mature B cell differentiation involved in immune response ISS
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0005125 Function Cytokine activity 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
HGNC N/A HGNC
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.
Q6UX52
Protein name Protein IL-40 (Interleukin-40) (IL-40)
Protein function Probable B cell-associated cytokine that plays a role in the regulation of humoral immune responses. Involved in lymphocyte B cell development and immunoglobulin/IgA production.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17736 Ig_C17orf99 27 → 121 C17orf99 Ig domain Domain
PF17736 Ig_C17orf99 125 → 216 C17orf99 Ig domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal liver and bone marrow (PubMed:28978694). Expressed in peripheral blood lymphocyte B cells (PubMed:28978694). {ECO:0000269|PubMed:28978694}.
Sequence
Sequence length 265
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 (2)
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
TYPE 1 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28978694
★★★★★
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Dysplasia Uterine disease Pubtator 20084279 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only