Gene Gene information from NCBI Gene database.
Entrez ID 1429
Gene name Crystallin zeta
Gene symbol CRYZ
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p31.1
Summary Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called
miRNA miRNA information provided by mirtarbase database.
280
miRTarBase ID miRNA Experiments Reference
MIRT030176 hsa-miR-26b-5p Microarray 19088304
MIRT036137 hsa-miR-1296-5p CLASH 23622248
MIRT456033 hsa-miR-6507-3p PAR-CLIP 20371350
MIRT456032 hsa-miR-3973 PAR-CLIP 20371350
MIRT456031 hsa-miR-520g-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0003730 Function MRNA 3'-UTR binding IBA
GO:0003730 Function MRNA 3'-UTR binding IDA 17497241
GO:0003730 Function MRNA 3'-UTR binding IEA
GO:0003960 Function Quinone reductase (NADPH) activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123691 2419 ENSG00000116791
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08257
Protein name Quinone oxidoreductase (EC 1.6.5.5) (NADPH:quinone reductase) (Zeta-crystallin)
Protein function Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification o
PDB 1YB5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08240 ADH_N 35 124 Alcohol dehydrogenase GroES-like domain Domain
PF13602 ADH_zinc_N_2 192 327 Domain
Tissue specificity TISSUE SPECIFICITY: Only very low amounts in the lens.
Sequence
Sequence length 329
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Asthma Associate 16385446
★☆☆☆☆
Found in Text Mining only
Cholangitis Sclerosing Associate 29180269
★☆☆☆☆
Found in Text Mining only
Coronary Disease Associate 22843503
★☆☆☆☆
Found in Text Mining only
Dyskinesia Drug Induced Associate 15151706
★☆☆☆☆
Found in Text Mining only