CIAO2A (cytosolic iron-sulfur assembly component 2A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 84191
Gene name Cytosolic iron-sulfur assembly component 2A
Gene symbol CIAO2A
Synonyms (NCBI Gene)
CIA2AFAM96A
Chromosome 15
Chromosome location 15q22.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 24981860, 25416956, 32222833, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0007059 Process Chromosome segregation 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
618382 26235 ENSG00000166797
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.
Q9H5X1
Protein name Cytosolic iron-sulfur assembly component 2A (MIP18 family protein FAM96A)
Protein function Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in colla
PDB 2M5H , 3UX2 , 3UX3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01883 FeS_assembly_P 38 → 116 Iron-sulfur cluster assembly protein Domain
Tissue specificity TISSUE SPECIFICITY: Substantially enriched in macrophages. {ECO:0000269|PubMed:22683786}.
Sequence 
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELE
VVSESCVEVQEINEEEYLVIIRFTPTVPHCSLATLIGLCLRVKLQRCLPFKHKLEIYISE
GTHSTEEDINKQINDKERVAAAMENPNLREIVEQCVLEPD
Sequence length 160
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
CYSTITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS — 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
Colitis Colitis BEFREE 31803631
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor BEFREE 25716227, 31803631
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28443470, 29399066
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25716227, 28443470, 29399066
★★★★★
★☆☆☆☆
Found in Text Mining only