Gene Gene information from NCBI Gene database.
Entrez ID 54955
Gene name AFG2 interacting ribosome maturation factor
Gene symbol AIRIM
Synonyms (NCBI Gene)
C1orf109
Chromosome 1
Chromosome location 1p34.3
miRNA miRNA information provided by mirtarbase database.
319
miRTarBase ID miRNA Experiments Reference
MIRT025066 hsa-miR-181a-5p Microarray 17612493
MIRT046095 hsa-miR-125b-5p CLASH 23622248
MIRT449796 hsa-miR-875-3p PAR-CLIP 22100165
MIRT449795 hsa-miR-6128 PAR-CLIP 22100165
MIRT449794 hsa-miR-1185-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 28514442, 32296183, 33961781, 35354024, 38554706
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 22548824
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614799 26039 ENSG00000116922
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX04
Protein name AFG2-interacting ribosome maturation factor (Ribosome biogenesis protein C1orf109)
Protein function Part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesio
PDB 8RHN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15011 CK2S 13 174 Casein Kinase 2 substrate Family
Sequence
Sequence length 203
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations