ENSG00000118231


Homo sapiens

Features
Gene ID: ENSG00000118231
  
Biological name :CRYGD
  
Synonyms : CRYGD / crystallin gamma D / P07320
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q33.3
Gene start: 208121607
Gene end: 208124501
  
Corresponding Affymetrix probe sets: 207532_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264376
NCBI entrez gene - 1421     See in Manteia.
OMIM - 123690
RefSeq - NM_006891
RefSeq Peptide - NP_008822
swissprot - A0A140CTX7
swissprot - P07320
Ensembl - ENSG00000118231
  
Related genetic diseases (OMIM): 115700 - Cataract 4, multiple types, 115700
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
 CR391987.1ENSDARG00000069827Danio rerio
 crygm1ENSDARG00000016421Danio rerio
 crygm2bENSDARG00000115234Danio rerio
 crygm2cENSDARG00000117097Danio rerio
 crygm2d1ENSDARG00000087324Danio rerio
 crygm2d10ENSDARG00000087765Danio rerio
 crygm2d12ENSDARG00000069801Danio rerio
 crygm2d14ENSDARG00000087301Danio rerio
 crygm2d2ENSDARG00000086917Danio rerio
 crygm2d20ENSDARG00000091148Danio rerio
 crygm2d3ENSDARG00000087164Danio rerio
 crygm2d3ENSDARG00000088823Danio rerio
 crygm2d5ENSDARG00000069792Danio rerio
 crygm2d6ENSDARG00000073874Danio rerio
 crygm2d7ENSDARG00000076572Danio rerio
 crygm2d9ENSDARG00000115701Danio rerio
 crygm2d9ENSDARG00000073750Danio rerio
 crygm2eENSDARG00000044875Danio rerio
 crygm2fENSDARG00000078134Danio rerio
 crygm3ENSDARG00000078189Danio rerio
 crygm4ENSDARG00000008219Danio rerio
 crygm5ENSDARG00000041179Danio rerio
 crygm6ENSDARG00000040735Danio rerio
 crygm7ENSDARG00000040736Danio rerio
 crygmxENSDARG00000053862Danio rerio
 crygmxl1ENSDARG00000018797Danio rerio
 crygmxl2ENSDARG00000074001Danio rerio
 si:dkey-57a22.13ENSDARG00000092345Danio rerio
 si:dkey-57a22.14ENSDARG00000092764Danio rerio
 si:dkey-57a22.15ENSDARG00000093318Danio rerio
 zgc:153846ENSDARG00000040738Danio rerio
 CrygdENSMUSG00000067299Mus musculus
 CrygeENSMUSG00000070870Mus musculus
 CrygfENSMUSG00000025945Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRYGA / P11844 / crystallin gamma AENSG0000016858272
CRYGB / P07316 / crystallin gamma BENSG0000018218772
CRYGC / P07315 / crystallin gamma CENSG0000016325471
CRYGS / P22914 / crystallin gamma SENSG0000021313949
CRYBB1 / P53674 / crystallin beta B1ENSG0000010012236
CRYBB2 / P43320 / crystallin beta B2ENSG0000024475235
CRYBB3 / P26998 / crystallin beta B3ENSG0000010005335
CRYBA1 / P05813 / crystallin beta A1ENSG0000010825533
CRYBA2 / P53672 / crystallin beta A2ENSG0000016349932
CRYBA4 / P53673 / crystallin beta A4ENSG0000019643131
CRYGN / Q8WXF5 / crystallin gamma NENSG0000012737729


Protein motifs (from Interpro)
Interpro ID Name
 IPR001064  Beta/gamma crystallin
 IPR011024  Gamma-crystallin-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye ISS
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0034614 cellular response to reactive oxygen species IDA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0070306 lens fiber cell differentiation ISS
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm ISS
 molecular_functionGO:0005212 structural constituent of eye lens NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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]
Show

 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
Show

 HP:0000545 Myopia 
Show

 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0001131 Corneal dystrophy 
Show

 HP:0007957 Variable degree of corneal opacities 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr