ENSG00000103316


Homo sapiens

Features
Gene ID: ENSG00000103316
  
Biological name :CRYM
  
Synonyms : CRYM / crystallin mu / Q14894
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p12.2
Gene start: 21238874
Gene end: 21303083
  
Corresponding Affymetrix probe sets: 205489_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000460820
Ensembl peptide - ENSP00000461904
Ensembl peptide - ENSP00000219599
Ensembl peptide - ENSP00000440227
Ensembl peptide - ENSP00000459982
Ensembl peptide - ENSP00000460126
Ensembl peptide - ENSP00000460510
NCBI entrez gene - 1428     See in Manteia.
OMIM - 123740
RefSeq - NM_001888
RefSeq Peptide - NP_001879
swissprot - I3L3J9
swissprot - I3L3Y1
swissprot - I3NI53
swissprot - I3L2W5
swissprot - Q14894
swissprot - I3L325
Ensembl - ENSG00000103316
  
Related genetic diseases (OMIM): 616357 - Deafness, autosomal dominant 40, 616357
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 crymENSDARG00000062817Danio rerio
 CRYMENSGALG00000002484Gallus gallus
 CrymENSMUSG00000030905Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003462  Ornithine cyclodeaminase/mu-crystallin
 IPR023401  Ornithine cyclodeaminase, N-terminal
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0006554 lysine catabolic process TAS
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0042403 thyroid hormone metabolic process IBA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070327 thyroid hormone transport IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005782 peroxisomal matrix TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003714 transcription corepressor activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016639 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor IBA
 molecular_functionGO:0042562 hormone binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0047127 thiomorpholine-carboxylate dehydrogenase activity TAS
 molecular_functionGO:0050661 NADP binding IDA
 molecular_functionGO:0070324 thyroid hormone binding IMP


Pathways (from Reactome)
Pathway description
Lysine catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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