C17orf99 (chromosome 17 open reading frame 99)

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Gene Gene information from NCBI Gene database.
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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 Show/Hide all (12)
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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 
MGLPGLFCLAVLAASSFSKAREEEITPVVSIAYKVLEVFPKGRWVLITCCAPQPPPPITY
SLCGTKNIKVAKKVVKTHEPASFNLNVTLKSSPDLLTYFCWASSTSGAHVDSARLQMHWE
LWSKPVSELRANFTLQDRGAGPRVEMICQASSGSPPITNSLIGKDGQVHLQQRPCHRQPA
NFSFLPSQTSDWFWCQAANNANVQHSALTVVPPGGDQKMEDWQGPLESPILALPLYRSTR
RLSEEEFGGFRIGNGEVRGRKAAAM
Sequence length 265
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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 Reference Evidence Score
TYPE 1 DIABETES MELLITUS — GWAS catalog 39749473
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 39749473
★★★★★
★★☆☆☆
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
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

No strongly related genes found yet for C17orf99.

No additional diseases found yet through genes similar to C17orf99.