Gene Gene information from NCBI Gene database.
Entrez ID 23313
Gene name KIAA0930
Gene symbol KIAA0930
Synonyms (NCBI Gene)
C22orf9LSC3
Chromosome 22
Chromosome location 22q13.31
miRNA miRNA information provided by mirtarbase database.
384
miRTarBase ID miRNA Experiments Reference
MIRT022346 hsa-miR-124-3p Microarray 18668037
MIRT694096 hsa-miR-6835-3p HITS-CLIP 23313552
MIRT694095 hsa-miR-330-3p HITS-CLIP 23313552
MIRT694094 hsa-miR-186-3p HITS-CLIP 23313552
MIRT694093 hsa-miR-1234-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 15778465, 32296183, 33961781, 35271311, 36931259
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619709 1314 ENSG00000100364
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ICG6
Protein name Uncharacterized protein KIAA0930
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09741 DUF2045 28 261 Uncharacterized conserved protein (DUF2045) Family
Sequence
MLRAIAEERGRLSLRREVCGLGCFKDDRIVFWTWMFSTYFMEKWAPRQDDMLFYVRRKLA
YSGSESGADGRKAAEPEVEVEVYRRDSKKLPGLGDPDIDWEESVCLNLILQKLDYMVTCA
VCTRADGGDIHIHKKKSQQVFASPSKHPMDSKGEESKISYPNIFFMIDSFEEVFSDMTVG
EGEMVCVELVASDKTNTFQGVIFQGSIRYEALKKVYDNRVSVAARMAQKMSFGFYKYSNM
EFVRMKGPQGKGHAEMAVSRV
STGDTSPCGTEEDSSPASPMHERVTSFSTPPTPERNNRP
AFFSPSLKRKVPRNRIAEMKKSHSANDSEEFFREDDGGADLHNATNLRSRSLSGTGRSLV
GSWLKLNRADGNFLLYAHLTYVTLPLHRILTDILEVRQKPILMT
Sequence length 404
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder Likely pathogenic rs2147734951, rs2147734937 RCV003388924
RCV003388926
★★★★☆
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
CUTANEOUS MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS 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
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32393777 Associate
★☆☆☆☆
Found in Text Mining only