CRYM (crystallin mu)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1428
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin mu
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYM
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA40, THBP
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and r
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104894509 T>A Pathogenic Terminator codon variant, stop lost
rs104894512 T>C,G Pathogenic Coding sequence variant, missense variant
rs147233841 G>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs386789728 TC>AA Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 11897713
GO:0003714 Function Transcription corepressor activity IMP 11897713
GO:0005515 Function Protein binding IPI 21044950, 32814053
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123740 2418 ENSG00000103316
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q14894
Protein name Ketimine reductase mu-crystallin (EC 1.5.1.25) (1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase) (P2C/Pyr2C reductase) (EC 1.5.1.1) (NADP-regulated thyroid-hormone-binding protein)
Protein function Catalyzes the NAD(P)H-dependent reduction of imine double bonds of a number of cyclic ketimine substrates, including sulfur-containing cyclic ketimines (PubMed:21332720, PubMed:25931162). Under physiological conditions, it efficiently catalyzes
PDB 2I99
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02423 OCD_Mu_crystall 3 → 314 Ornithine cyclodeaminase/mu-crystallin family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neural tissues, muscle and kidney (PubMed:1384048). Expressed in the inner ear (PubMed:12471561). {ECO:0000269|PubMed:12471561, ECO:0000269|PubMed:1384048}.
Sequence
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Lysine catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Deafness Autosomal dominant nonsyndromic hearing loss 40, autosomal dominant nonsyndromic hearing loss 40, autosomal dominant nonsyndromic hearing loss N/A N/A ClinVar, GenCC
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34668150
Anemia Sickle Cell Associate 30663491
Deafness Associate 28944914
Hypogonadism Associate 28944914
Juvenile gout Associate 10780922
Muscular Dystrophy Facioscapulohumeral Associate 19809486
Neoplasm Metastasis Associate 24485798
Neoplasms Stimulate 33955587
Prostatic Neoplasms Associate 33034050
Skin Abnormalities Associate 28944914