Gene Gene information from NCBI Gene database.
Entrez ID 54987
Gene name CXXC motif containing zinc binding protein
Gene symbol CZIB
Synonyms (NCBI Gene)
C1orf123
Chromosome 1
Chromosome location 1p32.3
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:0005515 Function Protein binding IPI 30260988
GO:0008270 Function Zinc ion binding IBA
GO:0008270 Function Zinc ion binding IDA 30260988, 30280012
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWV4
Protein name CXXC motif containing zinc binding protein (UPF0587 protein C1orf123)
PDB 5ZLQ , 5ZRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05907 DUF866 5 158 Eukaryotic protein of unknown function (DUF866) Family
Sequence
Sequence length 160
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 35008858
★☆☆☆☆
Found in Text Mining only
Chondrocalcinosis 2 Associate 35008858
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 35008858
★☆☆☆☆
Found in Text Mining only