Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9973
Gene name Gene Name - the full gene name approved by the HGNC.
Copper chaperone for superoxide dismutase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCS
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042263 hsa-miR-484 CLASH 23622248
MIRT683472 hsa-miR-4438 HITS-CLIP 21572407
MIRT706603 hsa-miR-3622a-5p HITS-CLIP 21572407
MIRT706602 hsa-miR-4269 HITS-CLIP 21572407
MIRT706601 hsa-miR-6715b-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004784 Function Superoxide dismutase activity IBA 21873635
GO:0005507 Function Copper ion binding IBA 21873635
GO:0005507 Function Copper ion binding IDA 9726962
GO:0005515 Function Protein binding IPI 9726962, 12968035, 20154138, 22508683, 24981860, 28514442, 30260988
GO:0005634 Component Nucleus IDA 9726962
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603864 1613 ENSG00000173992
Protein
UniProt ID O14618
Protein name Copper chaperone for superoxide dismutase (Superoxide dismutase copper chaperone)
Protein function Delivers copper to copper zinc superoxide dismutase (SOD1).
PDB 1DO5 , 2CRL , 2RSQ , 6FN8 , 6FOL , 6FON , 6FP6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00403 HMA 15 72 Heavy-metal-associated domain Domain
PF00080 Sod_Cu 93 230 Copper/zinc superoxide dismutase (SODC) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  Detoxification of Reactive Oxygen Species
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29662059 ClinVar
Carpal Tunnel Syndrome Carpal Tunnel Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 31118040, 31164693, 32121118, 9295278
Amyotrophic lateral sclerosis 1 Associate 21354101, 32121118
Arthritis Rheumatoid Associate 25147922
Carcinoma Hepatocellular Associate 37924725
Cerebral Small Vessel Diseases Associate 32047268
Colorectal Neoplasms Associate 38078879
Diabetic Nephropathies Associate 34545296
Gastrointestinal Stromal Tumors Associate 36204881
Intellectual Disability Associate 34452636
Leukemia Myeloid Acute Associate 30337300