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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, Multiple Types. Gene Ontology (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

Additional gene information for CRYGC Gene

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

Genomics for CRYGC Gene

GeneHancer (GH) Regulatory Elements for CRYGC Gene

Promoters and enhancers for CRYGC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208129 Promoter/Enhancer 1.3 EPDnew ENCODE 650.4 +9.2 9193 1.1 ELF3 MLX ARID4B THRB ZNF48 ZSCAN9 RARA SLC30A9 ZNF614 RCOR1 CRYGC CRYGA IDH1-AS1 IDH1 CRYGEP LOC100533727 CRYGD LOC100507443 GC02P208116
GH02J208130 Promoter 0.5 EPDnew 650.4 +9.9 9890 0.1 CRYGC CRYGD LOC100533727 LOC100507443 GC02P208116
GH02J207526 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +608.6 608590 8.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 CREB1 ENSG00000223725 METTL21A ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231653 ENSG00000231896 KLF7-IT1 FASTKD2
GH02J207623 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.8 +514.1 514054 4.2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 METTL21A CREB1 ENSG00000224342 LOC100533727 LOC100288663 ENSG00000231653 ENSG00000231896 PIKFYVE FASTKD2 CRYGC
GH02J207747 Enhancer 1 ENCODE dbSUPER 10.3 +391.9 391853 2.6 ELF3 FOXA2 RAD21 ZNF48 RARA CREM THAP11 NFKBIZ SP5 ZHX2 FZD5 METTL21A PLEKHM3 CRYGD CRYGC IDH1 IDH1-AS1 CRYGB ENSG00000272851 CCNYL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYGC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYGC gene promoter:
  • NF-1
  • Bach1
  • ATF6
  • CHOP-10
  • C/EBPalpha
  • PPAR-gamma1
  • E47
  • Tal-1beta
  • PPAR-gamma2
  • Arnt

Genomic Locations for CRYGC Gene

Genomic Locations for CRYGC Gene
chr2:208,128,137-208,139,738
(GRCh38/hg38)
Size:
11,602 bases
Orientation:
Minus strand
chr2:208,992,861-208,994,554
(GRCh37/hg19)
Size:
1,694 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains 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.
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

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

Phenotypes From GWAS Catalog for CRYGC Gene

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
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

Clone Products

  • Addgene plasmids for CRYGC

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 and Subcellular locations from the Human Protein Atlas (HPA) 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 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:

Clone Products

  • Addgene plasmids for CRYGC

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 CGAP 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 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

Evidence on tissue expression from TISSUES for CRYGC Gene

  • Eye(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYGC Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYGC: view

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 33
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CRYGC 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYGC 34 33
  • 86.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crygc 33
  • 85.44 (n)
mouse
(Mus musculus)
Mammalia Crygc 16 34 33
  • 82.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 73 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 68 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
ManyToMany
-- 34
  • 68 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-57a22.15 33
  • 63.97 (n)
crygmx 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CRYGC: view image

Paralogs for CRYGC Gene

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

  • CRGC_HUMAN
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 Variation AA Info Type
rs104893618 pathogenic, Cataract 2, Coppock-like, Cataract 2, multiple types (CTRCT2) [MIM:604307] 208,129,680(-) T/G coding_sequence_variant, missense_variant
rs115828074 benign, Cataract, coppock-like 208,129,570(-) G/A coding_sequence_variant, synonymous_variant
rs137853924 pathogenic, Cataract, coppock-like, Cataract 2, multiple types (CTRCT2) [MIM:604307] 208,128,343(-) C/A coding_sequence_variant, missense_variant
rs150910237 likely-benign, Cataract, coppock-like 208,128,472(-) C/A/G/T coding_sequence_variant, missense_variant
rs199901300 benign, Cataract, coppock-like 208,129,693(-) A/G intron_variant

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)

Additional Variant Information for CRYGC Gene

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

SNP Genotyping and Copy Number Assay Products

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

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

- 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:12601044, 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.

Additional Disease Information for 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 JF (Human genetics 2000) 3 4 44 58
  2. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. (PMID: 22876111) Guo Y … Zhu S (Molecular vision 2012) 3 4 58
  3. A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. (PMID: 22052681) Li XQ … Ma X (Human mutation 2012) 3 4 58
  4. Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract. (PMID: 21423869) Kumar M … Dada R (Molecular vision 2011) 3 4 58
  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 (Molecular vision 2009) 3 22 58

Products for CRYGC Gene

Sources for CRYGC Gene

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