CRYM (crystallin mu)

2009-08-01  

Identity

HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
DFNA40,THBP
FUSION GENES

Other Information

Locus ID:

NCBI: 1428
MIM: 123740
HGNC: 2418
Ensembl: ENSG00000103316

Variants:

dbSNP: 1428
ClinVar: 1428
TCGA: ENSG00000103316
COSMIC: CRYM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103316ENST00000219599Q14894
ENSG00000103316ENST00000543948Q14894
ENSG00000103316ENST00000570401I3L3Y1
ENSG00000103316ENST00000571358I3L3J9
ENSG00000103316ENST00000572914I3NI53
ENSG00000103316ENST00000574448I3L2W5
ENSG00000103316ENST00000576703I3L325

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Lysine catabolismREACTOMER-HSA-71064
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
191102652009Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.43
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
124715612003Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.40
174516862007Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy.15
213327202011Mammalian forebrain ketimine reductase identified as μ-crystallin; potential regulation by thyroid hormones.14
213327202011Mammalian forebrain ketimine reductase identified as μ-crystallin; potential regulation by thyroid hormones.14
213327202011Mammalian forebrain ketimine reductase identified as μ-crystallin; potential regulation by thyroid hormones.14
193535932009Identification of mu-crystallin as an androgen-regulated gene in human prostate cancer.6
200181742010Hyperglycemia induces elevated expression of thyroid hormone binding protein in vivo in kidney and heart and in vitro in mesangial cells.3

Citation

Dessen P

CRYM (crystallin mu)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51036/crym-(crystallin-mu)