Gene Gene information from NCBI Gene database.
Entrez ID 9973
Gene name Copper chaperone for superoxide dismutase
Gene symbol CCS
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q13.2
Summary 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.
454
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IBA
GO:0005507 Function Copper ion binding IDA 9726962
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 9726962, 12968035, 20154138, 22508683, 24981860, 28514442, 30260988, 31292775, 33961781
GO:0005634 Component Nucleus IDA 9726962
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603864 1613 ENSG00000173992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 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)
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
AMYOTROPHIC LATERAL SCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCS-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF COPPER METABOLISM Disgenet
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 10793232, 11991808, 18337307, 31164693
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis LHGDN 11991808
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 31118040, 31164693, 32121118, 9295278 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 10793232, 11585247
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 21354101, 32121118 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 10793232, 11585247
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 27835717
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 25147922 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31024318
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37924725 Associate
★☆☆☆☆
Found in Text Mining only