CRYM (crystallin mu)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1428
Gene name Crystallin mu
Gene symbol CRYM
Synonyms (NCBI Gene)
DFNA40THBP
Chromosome 16
Chromosome location 16p12.2
Summary 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.
4
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123740 2418 ENSG00000103316
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 40 Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records rs766675674, rs34045013, rs727502945, rs727505275, rs760636344, rs141595341, rs1262100500, rs104894509, rs104894512, rs226045, rs14122, rs141936944, rs140779001 RCV002490178
RCV002492551
RCV002483300
RCV000765270
RCV002471352
RCV003138480
RCV003330275
RCV000018442
RCV000018443
RCV001659957
RCV001659958
RCV002503043
RCV001291686
CRYM-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs150970942, rs763706653, rs2506189645, rs1428220564, rs371633413, rs141936944, rs145787995 RCV003948669
RCV003907169
RCV003899096
RCV003981810
RCV003915702
RCV003905926
RCV003905927
Familial cancer of breast Benign rs14122 RCV005889068
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease 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