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Aliases for CRYGC Gene

Aliases for CRYGC Gene

  • Crystallin Gamma C 2 3 5
  • Gamma-Crystallin 2-1 3 4
  • Gamma-Crystallin 3 3 4
  • CRYG3 3 4
  • Crystallin, Gamma C 2
  • Gamma-Crystallin C 3
  • Gamma-C-Crystallin 4
  • CTRCT2 3
  • CCL 3

External Ids for CRYGC Gene

Previous HGNC Symbols for CRYGC Gene

  • CRYG3

Previous GeneCards Identifiers for CRYGC Gene

  • GC02M207159
  • GC02M207717
  • GC02M208956
  • GC02M209195
  • GC02M208818
  • GC02M208701
  • GC02M208992
  • GC02M200841

Summaries for CRYGC Gene

Entrez Gene Summary for CRYGC Gene

  • This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]

GeneCards Summary for CRYGC Gene

CRYGC (Crystallin Gamma C) is a Protein Coding gene. Diseases associated with CRYGC include Cataract 2, Multiple Types and Cataract 30, Pulverulent. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGB.

UniProtKB/Swiss-Prot for CRYGC Gene

  • Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Wiki entry for CRYGC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYGC Gene

Genomics for CRYGC Gene

Regulatory Elements for CRYGC Gene

Enhancers for CRYGC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F208102 0.5 ENCODE 12.2 +37.6 37627 0.2 CTCF ZNF654 MBD1 SMC3 KLF9 RAD21 MAFK CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 GC02M208099 LOC105373854
GH02F208101 0.2 Ensembl 12.2 +38.6 38638 0.2 ZNF384 CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 CRYGEP GC02M208099 LOC105373854
GH02F208103 0.2 Ensembl 12.2 +38.0 38037 0.6 CTCF ZNF654 MBD1 KLF9 RAD21 MAFK CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 CRYGEP GC02M208099 LOC105373854
GH02F207526 0.9 FANTOM5 ENCODE 11.2 +608.6 608591 8.9 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 METTL21A ENSG00000224342 LOC100533727 ENSG00000231653 LOC100288663 ENSG00000231896 CREB1 KLF7-IT1 CRYGC ENSG00000223725
GH02F207623 0.5 ENCODE 11.2 +514.1 514055 4.2 PKNOX1 CREB3L1 ARNT MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231896 ENSG00000231653 CRYGC CCNYL1 METTL21A LINC01857 GC02P207602
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CRYGC on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYGC Gene

Chromosome:
2
Start:
208,128,137 bp from pter
End:
208,139,738 bp from pter
Size:
11,602 bases
Orientation:
Minus strand

Genomic View for CRYGC Gene

Genes around CRYGC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYGC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYGC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYGC Gene

Proteins for CRYGC Gene

  • Protein details for CRYGC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07315-CRGC_HUMAN
    Recommended name:
    Gamma-crystallin C
    Protein Accession:
    P07315
    Secondary Accessions:
    • Q53R50

    Protein attributes for CRYGC Gene

    Size:
    174 amino acids
    Molecular mass:
    20879 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CRYGC Gene

neXtProt entry for CRYGC Gene

Post-translational modifications for CRYGC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYGC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYGC Gene

Domains & Families for CRYGC Gene

Gene Families for CRYGC Gene

Suggested Antigen Peptide Sequences for CRYGC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07315

UniProtKB/Swiss-Prot:

CRGC_HUMAN :
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Contains 4 beta/gamma crystallin Greek key domains.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYGC: view

Function for CRYGC Gene

Molecular function for CRYGC Gene

GENATLAS Biochemistry:
crystallin,gamma polypeptide C
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Ontology (GO) - Molecular Function for CRYGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens NAS 12507494
GO:0005515 protein binding IPI 11700327
genes like me logo Genes that share ontologies with CRYGC: view

Phenotypes for CRYGC Gene

genes like me logo Genes that share phenotypes with CRYGC: view

Human Phenotype Ontology for CRYGC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CRYGC Gene

miRTarBase miRNAs that target CRYGC

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CRYGC Gene

Localization for CRYGC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYGC Gene COMPARTMENTS Subcellular localization image for CRYGC gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CRYGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16303126
GO:0005737 cytoplasm IDA 16303126
genes like me logo Genes that share ontologies with CRYGC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CRYGC Gene

Pathways & Interactions for CRYGC Gene

SuperPathways for CRYGC Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYGC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA,IMP 12011157
genes like me logo Genes that share ontologies with CRYGC: view

No data available for Pathways by source and SIGNOR curated interactions for CRYGC Gene

Drugs & Compounds for CRYGC Gene

(1) Additional Compounds for CRYGC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CRYGC: view

Transcripts for CRYGC Gene

mRNA/cDNA for CRYGC Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRYGC Gene

Crystallin, gamma C:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYGC Gene

No ASD Table

Relevant External Links for CRYGC Gene

GeneLoc Exon Structure for
CRYGC
ECgene alternative splicing isoforms for
CRYGC

Expression for CRYGC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRYGC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYGC Gene

This gene is overexpressed in Testis (x47.0).

Protein differential expression in normal tissues from HIPED for CRYGC Gene

This gene is overexpressed in Vitreous humor (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYGC Gene



Protein tissue co-expression partners for CRYGC Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYGC Gene:

CRYGC

SOURCE GeneReport for Unigene cluster for CRYGC Gene:

Hs.72910
genes like me logo Genes that share expression patterns with CRYGC: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CRYGC Gene

Orthologs for CRYGC Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYGC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYGC 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia CRYGC 35
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYGC 34 35
  • 86.97 (n)
rat
(Rattus norvegicus)
Mammalia Crygc 34
  • 85.44 (n)
mouse
(Mus musculus)
Mammalia Crygc 34 16 35
  • 82.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
ManyToMany
-- 35
  • 73 (a)
ManyToMany
-- 35
  • 73 (a)
ManyToMany
-- 35
  • 72 (a)
ManyToMany
-- 35
  • 71 (a)
ManyToMany
-- 35
  • 68 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
ManyToMany
-- 35
  • 68 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57a22.15 34
  • 63.97 (n)
crygmx 35
  • 48 (a)
ManyToMany
Species where no ortholog for CRYGC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYGC Gene

ENSEMBL:
Gene Tree for CRYGC (if available)
TreeFam:
Gene Tree for CRYGC (if available)

Paralogs for CRYGC Gene

(16) SIMAP similar genes for CRYGC Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CRYGC: view

Variants for CRYGC Gene

Sequence variations from dbSNP and Humsavar for CRYGC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893618 Cataract 2, multiple types (CTRCT2) [MIM:604307], Pathogenic 208,129,680(-) AGATC(A/C)CCTTC intron-variant, reference, missense
rs137853924 Cataract 2, multiple types (CTRCT2) [MIM:604307], Pathogenic 208,128,343(-) TGGAG(G/T)GCTGC intron-variant, reference, missense
rs28931604 Pathogenic 208,128,226(-) CTTTG(C/T)GGAGA intron-variant, reference, missense
rs398122392 Pathogenic 208,128,258(-) GGACT(A/C/G/T)GGGGG intron-variant, reference, missense, stop-gained
rs398122944 Pathogenic 208,128,257(-) GACTG(A/G)GGGGC intron-variant, reference, stop-gained

Variation tolerance for CRYGC Gene

Residual Variation Intolerance Score: 72.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYGC Gene

Human Gene Mutation Database (HGMD)
CRYGC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYGC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CRYGC Gene

Disorders for CRYGC Gene

MalaCards: The human disease database

(8) MalaCards diseases for CRYGC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 2, multiple types
  • cataract 2 multiple types
cataract 30, pulverulent
  • cataract 30
cataract 9, multiple types
  • cataract 9 multiple types
cataract microcornea syndrome
  • microcornea cataract syndrome
cataract 16, multiple types
  • cataract 16 multiple types
- elite association - COSMIC cancer census association via MalaCards
Search CRYGC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRGC_HUMAN
  • Cataract 2, multiple types (CTRCT2) [MIM:604307]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269 PubMed:10521291, ECO:0000269 PubMed:10914683, ECO:0000269 PubMed:12011157, ECO:0000269 PubMed:18587492, ECO:0000269 PubMed:22052681, ECO:0000269 PubMed:22876111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRYGC

Genetic Association Database (GAD)
CRYGC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYGC
genes like me logo Genes that share disorders with CRYGC: view

No data available for Genatlas for CRYGC Gene

Publications for CRYGC Gene

  1. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. (PMID: 10914683) Ren Z. … Hejtmancik J.F. (Hum. Genet. 2000) 3 4 46 64
  2. A novel mutation impairing the tertiary structure and stability of gammaC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. (PMID: 22052681) Li X.Q. … Ma X. (Hum. Mutat. 2012) 3 4 64
  3. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. (PMID: 22876111) Guo Y. … Zhu S. (Mol. Vis. 2012) 3 4 64
  4. Mutation screening and genotype phenotype correlation of alpha- crystallin, gamma-crystallin and GJA8 gene in congenital cataract. (PMID: 21423869) Kumar M. … Dada R. (Mol. Vis. 2011) 3 4 64
  5. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. (PMID: 19390652) Santana A. … Barbosa de Melo M. (Mol. Vis. 2009) 3 22 64

Products for CRYGC Gene

Sources for CRYGC Gene

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