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CRYM (crystallin mu)

Identity

Alias (NCBI)DFNA40
THBP
HGNC (Hugo) CRYM
HGNC Alias symbDFNA40
HGNC Alias namethiomorpholine-carboxylate dehydrogenase
HGNC Previous namecrystallin, mu
LocusID (NCBI) 1428
Atlas_Id 51036
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 21258521 and ends at 21303062 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NUMA1 (11q13.4) / CRYM (16p12.2)TMC6 (17q25.3) / CRYM (16p12.2)NUMA1 11q13.4 / CRYM 16p12.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CRYM   2418
Cards
Entrez_Gene (NCBI)CRYM    crystallin mu
AliasesDFNA40; THBP
GeneCards (Weizmann)CRYM
Ensembl hg19 (Hinxton)ENSG00000103316 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103316 [Gene_View]  ENSG00000103316 [Sequence]  chr16:21258521-21303062 [Contig_View]  CRYM [Vega]
ICGC DataPortalENSG00000103316
TCGA cBioPortalCRYM
AceView (NCBI)CRYM
Genatlas (Paris)CRYM
SOURCE (Princeton)CRYM
Genetics Home Reference (NIH)CRYM
Genomic and cartography
GoldenPath hg38 (UCSC)CRYM  -     chr16:21258521-21303062 -  16p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYM  -     16p12.2   [Description]    (hg19-Feb_2009)
GoldenPathCRYM - 16p12.2 [CytoView hg19]  CRYM - 16p12.2 [CytoView hg38]
ImmunoBaseENSG00000103316
Genome Data Viewer NCBICRYM [Mapview hg19]  
OMIM123740   616357   
Gene and transcription
Genbank (Entrez)AK290852 AK310424 BC008398 BC018061 BG033512
RefSeq transcript (Entrez)NM_001014444 NM_001376256 NM_001888
Consensus coding sequences : CCDS (NCBI)CRYM
Gene ExpressionCRYM [ NCBI-GEO ]   CRYM [ EBI - ARRAY_EXPRESS ]   CRYM [ SEEK ]   CRYM [ MEM ]
Gene Expression Viewer (FireBrowse)CRYM [ Firebrowse - Broad ]
GenevisibleExpression of CRYM in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1428
GTEX Portal (Tissue expression)CRYM
Human Protein AtlasENSG00000103316-CRYM [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14894   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14894  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14894
Catalytic activity : Enzyme1.5.1.25 [ Enzyme-Expasy ]   1.5.1.251.5.1.25 [ IntEnz-EBI ]   1.5.1.25 [ BRENDA ]   1.5.1.25 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ14894
Domains : Interpro (EBI)NAD(P)-bd_dom_sf    ODC_Mu_crystall    ODC_N   
Domain families : Pfam (Sanger)OCD_Mu_crystall (PF02423)   
Domain families : Pfam (NCBI)pfam02423   
Conserved Domain (NCBI)CRYM
PDB (RSDB)2I99   
PDB Europe2I99   
PDB (PDBSum)2I99   
PDB (IMB)2I99   
Structural Biology KnowledgeBase2I99   
SCOP (Structural Classification of Proteins)2I99   
CATH (Classification of proteins structures)2I99   
SuperfamilyQ14894
AlphaFold pdb e-kbQ14894   
Human Protein Atlas [tissue]ENSG00000103316-CRYM [tissue]
HPRD08831
Protein Interaction databases
DIP (DOE-UCLA)Q14894
IntAct (EBI)Q14894
BioGRIDCRYM
STRING (EMBL)CRYM
ZODIACCRYM
Ontologies - Pathways
QuickGOQ14894
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  transcription corepressor activity  protein binding  cytoplasm  cytoplasm  peroxisomal matrix  cytosol  lysine catabolic process  sensory perception of sound  thyroid hormone metabolic process  hormone binding  protein homodimerization activity  thiomorpholine-carboxylate dehydrogenase activity  NADP binding  extracellular exosome  thyroid hormone binding  thyroid hormone binding  thyroid hormone binding  thyroid hormone transport  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  transcription corepressor activity  protein binding  cytoplasm  cytoplasm  peroxisomal matrix  cytosol  lysine catabolic process  sensory perception of sound  thyroid hormone metabolic process  hormone binding  protein homodimerization activity  thiomorpholine-carboxylate dehydrogenase activity  NADP binding  extracellular exosome  thyroid hormone binding  thyroid hormone binding  thyroid hormone binding  thyroid hormone transport  
NDEx NetworkCRYM
Atlas of Cancer Signalling NetworkCRYM
Wikipedia pathwaysCRYM
Orthology - Evolution
OrthoDB1428
GeneTree (enSembl)ENSG00000103316
Phylogenetic Trees/Animal Genes : TreeFamCRYM
Homologs : HomoloGeneCRYM
Homology/Alignments : Family Browser (UCSC)CRYM
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/CRYM [11q13.4/16p12.2]  
Fusion : QuiverCRYM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYM
dbVarCRYM
ClinVarCRYM
MonarchCRYM
1000_GenomesCRYM 
Exome Variant ServerCRYM
GNOMAD BrowserENSG00000103316
Varsome BrowserCRYM
ACMGCRYM variants
VarityQ14894
Genomic Variants (DGV)CRYM [DGVbeta]
DECIPHERCRYM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYM 
Mutations
ICGC Data PortalCRYM 
TCGA Data PortalCRYM 
Broad Tumor PortalCRYM
OASIS PortalCRYM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYM  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCRYM
Mutations and Diseases : HGMDCRYM
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCRYM
DgiDB (Drug Gene Interaction Database)CRYM
DoCM (Curated mutations)CRYM
CIViC (Clinical Interpretations of Variants in Cancer)CRYM
Cancer3DCRYM
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123740    616357   
Orphanet12046   
DisGeNETCRYM
MedgenCRYM
Genetic Testing Registry CRYM
NextProtQ14894 [Medical]
GENETestsCRYM
Target ValidationCRYM
Huge Navigator CRYM [HugePedia]
ClinGenCRYM
Clinical trials, drugs, therapy
MyCancerGenomeCRYM
Protein Interactions : CTDCRYM
Pharm GKB GenePA26924
PharosQ14894
Clinical trialCRYM
Miscellaneous
canSAR (ICR)CRYM
HarmonizomeCRYM
DataMed IndexCRYM
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCRYM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:05:18 CEST 2021

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