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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRYGA Gene

protein-coding   GIFtS: 47
GCID: GC02M209025

Crystallin, Gamma A


(Previous symbol: CRYG1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Crystallin, Gamma A1 2     CRYG52
CRYG11 2 3 5     Crystallin, Gamma 12
Gamma-Crystallin 52 3     Gamma-Crystallin A2
Gamma Crystallin 51     Gamma-A-crystallin3
CRY-g-A2     

External Ids:    HGNC: 24081   Entrez Gene: 14182   Ensembl: ENSG000001685827   OMIM: 1236605   UniProtKB: P118443   

Export aliases for CRYGA gene to outside databases

Previous GC identifers: GC02M207194 GC02M207750 GC02M208989 GC02M209228 GC02M208850 GC02M208733 GC02M200873


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRYGA Gene:
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class
constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the
lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then
retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into
alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta
families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four
homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous
group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions.
They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D)
and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster.
Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CRYGA Gene: 
CRYGA (crystallin, gamma A) is a protein-coding gene. Diseases associated with CRYGA include cataract. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot: CRGA_HUMAN, P11844
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYGA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRYGA gene promoter:
         SRF   NCX/Ncx   SRF (504 AA)   HTF   MIF-1   LCR-F1   AREB6   PPAR-gamma1   c-Myb   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYGA promoter sequence
   Search SABiosciences Chromatin IP Primers for CRYGA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYGA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q34

CRYGA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYGA gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M209025:  view genomic region     (about GC identifiers)

Start:
209,025,464 bp from pter      End:
209,028,300 bp from pter
Size:
2,837 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRGA_HUMAN, P11844 (See protein sequence)
Recommended Name: Gamma-crystallin A  
Size: 174 amino acids; 20877 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for CRYGA:
1LER (3D)    
Secondary accessions: Q53ST5

Explore the universe of human proteins at neXtProt for CRYGA: NX_P11844

Explore proteomics data for CRYGA at MOPED 

CRYGA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CRYGA Protein Expression

REFSEQ proteins: NP_055432.2  
ENSEMBL proteins: 
 ENSP00000302105  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

CRYGA for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro protein domains:
 IPR001064 Beta/gamma_crystallin
 IPR011024 G_crystallin-rel

Graphical View of Domain Structure for InterPro Entry P11844

ProtoNet protein and cluster: P11844

2 Blocks protein domains:
IPB001064 Beta and gamma crystallin
IPB011024 Gamma-crystallin related


UniProtKB/Swiss-Prot: CRGA_HUMAN, P11844
Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifs
Similarity: Belongs to the beta/gamma-crystallin family
Similarity: Contains 4 beta/gamma crystallin 'Greek key' domains


CRYGA for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CRGA_HUMAN, P11844
Function: Crystallins are the dominant structural components of the vertebrate eye lens

     Genatlas biochemistry entry for CRYGA:
crystallin,gamma polypeptide A

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005212structural constituent of eye lens NAS12507494
     
CRYGA for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for CRYGA:
 Decreased Salmonella enterica  

     1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Cryga):
 vision/eye 

CRYGA for phenotypes           About GeneDecksing

Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRYGA

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001654eye development ----
GO:0002088lens development in camera-type eye IEA--
GO:0007601visual perception NAS12507494

CRYGA for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CRYGA (CRGA)

Search CenterWatch for drugs/clinical trials and news about CRYGA / CRGA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CRYGA gene: 
NM_014617.3  

Unigene Cluster for CRYGA:

Crystallin, gamma A
Hs.122566  [show with all ESTs]
Unigene Representative Sequence: BC114456
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000304502(uc002vcq.4)
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Additional mRNA sequence: 

BC114456.1 EF426311.1 

2 DOTS entries:

DT.307153  DT.120998479 

12 AceView cDNA sequences:

BM667614 BM698997 BM698524 BM710792 BM667439 BX281946 BM710815 NM_014617 
BG207174 AI052518 AA404481 AA780079 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CRYGA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CRYGA Expression
About this image


See CRYGA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRYGA

SOURCE GeneReport for Unigene cluster: Hs.122566
    SABiosciences Custom PCR Arrays for CRYGA
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYGA

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CRYGA gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cryga1 , 5 crystallin, gamma A1, 5 83.52(n)1
84.48(a)1
  1 (32.84 cM)5
129641  NM_007774.31  NP_031800.11 
 651003895 
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57a22.151 si:dkey-57a22.15 68.22(n)
60.47(a)
  795575  NM_001123311.1  NP_001116783.1 


ENSEMBL Gene Tree for CRYGA (if available)
TreeFam Gene Tree for CRYGA (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CRYGA gene
CRYBB32  CRYGB2  CRYBA42  CRYBA12  CRYBB22  CRYGD2  CRYBB12  CRYGC2  
CRYBA22  CRYGN2  CRYGS2  
14 SIMAP similar genes for CRYGA using alignment to 2 protein entries:     CRGA_HUMAN (see all proteins):
CRYGB    CRYGD    CRYGC    CRYGS    DKFZp434A0627    CRYGN
CRYBA2    CRYBA1    CRYBB3    CRYBB1    CRYBA4    CRYBB2
AIM1L    AIM1

CRYGA for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/174 SNPs in CRYGA are shown (see all 174)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0211394
----see VAR_0211392 P L mis40--------
rs1850680641,2
--208413414(+) TCTACC/TAGTAA 1 -- int10--------
rs67290511,2
C,F,A,H--208413423(+) AAGTAG/TCAGAG 1 -- int123Minor allele frequency- T:0.21NS EA NA WA 2446
rs1889834721,2
--208413498(+) CTTCTC/TCACGT 1 -- int10--------
rs24413491,2
C,A,H--208413589(+) CGGGCA/GGATCA 1 -- int10--------
rs24413501,2
C,H--208413622(+) CAGCCT/CGACCA 1 -- int17Minor allele frequency- C:0.00NA WA 14
rs134305641,2
C,F--208413696(+) taatcC/Acagtt 1 -- int11Minor allele frequency- A:0.00NA 2
rs1809104301,2
--208413727(+) AGGATG/TGATTG 1 -- int10--------
rs1863156071,2
--208413769(+) GATAGC/TGCCAT 1 -- int10--------
rs2017895741,2
C,F--208413886(+) ATTTAT/CTATGT 1 -- ut311Minor allele frequency- C:0.01EU 1323

HapMap Linkage Disequilibrium report for CRYGA (209025464 - 209028300 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for CRYGA:    About this table     
Variant IDTypeSubtypePubMed ID
dgv4418n71CNV Loss21882294
nsv834517CNV Loss17160897
nsv875747CNV Loss21882294
nsv875748CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 123660    OMIM disorders: --

2 diseases for CRYGA:    About MalaCards
cataract    


CRYGA for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for CRYGA gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cataract 54.6 1 12646746 (1)

Genetic Association Database (GAD): CRYGA
Human Genome Epidemiology (HuGE) Navigator: CRYGA (1 document)

Export disorders for CRYGA gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CRYGA gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with CRYGA)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin. (PubMed id 19384013)1, 4 Kapur S....Rajkumar S. (2009)
  2. Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins. (PubMed id 12507494)1, 2 Salim A. and Zaidi Z.H. (2003)
  3. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. (PubMed id 12011157)1, 2 Santhiya S.T.... Graw J. (2002)
  4. Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family. (PubMed id 3670288)1, 2 Meakin S.O.... Breitman M.L. (1987)
  5. Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement. (PubMed id 20235792)4 Uhl G.R....Munafo M.R. (2010)
  6. Lens aging: effects of crystallins. (PubMed id 19463898)1 Sharma K.K. and Santhoshkumar P. (2009)
  7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  9. Structure of the crystallins. (PubMed id 10627816)1 Slingsby C. and Clout N.J. (1999)
  10. The crystallins: genes, proteins and diseases. (PubMed id 9426193)1 Graw J. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 1418 HGNC: 2408 AceView: CRYGA Ensembl:ENSG00000168582 euGenes: HUgn1418
ECgene: CRYGA H-InvDB: CRYGA

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CRYGA Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CRYGA gene:
Search GeneIP for patents involving CRYGA

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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