Gene Gene information from NCBI Gene database.
Entrez ID 64431
Gene name Actin related protein 6
Gene symbol ACTR6
Synonyms (NCBI Gene)
ARP6CDA12HSPC281MSTP136hARP6hARPX
Chromosome 12
Chromosome location 12q23.1
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT543225 hsa-miR-5692a PAR-CLIP 21572407
MIRT543223 hsa-miR-6507-5p PAR-CLIP 21572407
MIRT543224 hsa-miR-568 PAR-CLIP 21572407
MIRT543225 hsa-miR-5692a PAR-CLIP 21572407
MIRT543223 hsa-miR-6507-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000786 Component Nucleosome NAS 16634648
GO:0000812 Component Swr1 complex IBA
GO:0005515 Function Protein binding IPI 15647280, 16230350, 20473270, 24463511, 28514442, 33961781
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619729 24025 ENSG00000075089
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9GZN1
Protein name Actin-related protein 6 (hArp6) (hARPX)
Protein function Required for formation and/or maintenance of proper nucleolar structure and function (PubMed:26164235). Plays a dual role in the regulation of ribosomal DNA (rDNA) transcription (By similarity). In the presence of high glucose, maintains active
PDB 6IGM , 8X15 , 8X19 , 8X1C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00022 Actin 1 395 Actin Family
Sequence
Sequence length 396
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ATP-dependent chromatin remodeling  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 36077333
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Associate 38225273
★☆☆☆☆
Found in Text Mining only