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Aliases for CRYGB Gene

Aliases for CRYGB Gene

  • Crystallin Gamma B 2 3 5
  • Crystallin, Gamma 1-2 2 3
  • CRYG2 3 4
  • Gamma-Crystallin 1-2 4
  • Crystallin, Gamma B 2
  • Gamma-Crystallin B 3
  • Gamma-B-Crystallin 4
  • CTRCT39 3

External Ids for CRYGB Gene

Previous HGNC Symbols for CRYGB Gene

  • CRYG2

Previous GeneCards Identifiers for CRYGB Gene

  • GC02M207175
  • GC02M207718
  • GC02M208971
  • GC02M209209
  • GC02M208832
  • GC02M208715
  • GC02M209007
  • GC02M200855

Summaries for CRYGB Gene

Entrez Gene Summary for CRYGB 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 CRYGB Gene

CRYGB (Crystallin Gamma B) is a Protein Coding gene. Diseases associated with CRYGB include Cataract 39, Multiple Types, Autosomal Dominant and Cataract 24, Anterior Polar. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYGB Gene

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

Gene Wiki entry for CRYGB Gene

Additional gene information for CRYGB Gene

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

Genomics for CRYGB Gene

Regulatory Elements for CRYGB Gene

Enhancers for CRYGB 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
GH02H208112 1.1 Ensembl ENCODE 11.7 +33.1 33137 1 SIX4 TBP MAX FEZF1 ZNF2 RFX5 CTBP1 GATA3 ZBTB48 ZNF366 CRYGEP CRYGB IDH1-AS1 IDH1 CRYGA FZD5 CRYGD GC02P208116
GH02H208175 0.9 ENCODE 11.2 -29.3 -29334 0 ELF3 ATF1 RB1 ARID4B ZSCAN9 RAD21 RARA RFX5 YY1 ZNF143 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
GH02H207747 1.1 ENCODE dbSUPER 9.1 +398.3 398283 2 ELF3 FOXA2 RAD21 RARA CREM THAP11 SP5 ZHX2 PPARG KAT8 FZD5 METTL21A PLEKHM3 CRYGD CRYGC IDH1 IDH1-AS1 CRYGB ENSG00000272851 CCNYL1
GH02H208101 0.8 Ensembl ENCODE 11 +44.3 44268 0 CTCF ZNF654 MBD1 SMC3 KLF9 MAFK RAD21 CRYGD CRYGC IDH1-AS1 IDH1 CRYGB FZD5 CRYGEP GC02M208099 LOC105373854
GH02H208183 0.6 Ensembl 11.4 -37.8 -37833 0 FOXA2 GABPA JUND ATF3 CEBPA POU5F1 HNF4G HNF4A FOXP2 IDH1-AS1 IDH1 CRYGB CRYGC CRYGD C2orf80 CRYGA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYGB on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYGB Gene

Chromosome:
2
Start:
208,142,573 bp from pter
End:
208,146,168 bp from pter
Size:
3,596 bases
Orientation:
Minus strand

Genomic View for CRYGB Gene

Genes around CRYGB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CRYGB Gene

Proteins for CRYGB Gene

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

    Protein Symbol:
    P07316-CRGB_HUMAN
    Recommended name:
    Gamma-crystallin B
    Protein Accession:
    P07316
    Secondary Accessions:
    • Q17RB5
    • Q53ST2

    Protein attributes for CRYGB Gene

    Size:
    175 amino acids
    Molecular mass:
    20908 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CRYGB Gene

neXtProt entry for CRYGB Gene

Post-translational modifications for CRYGB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYGB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYGB Gene

Domains & Families for CRYGB Gene

Gene Families for CRYGB Gene

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

Protein Domains for CRYGB Gene

Suggested Antigen Peptide Sequences for CRYGB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07316

UniProtKB/Swiss-Prot:

CRGB_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 CRYGB: view

Function for CRYGB Gene

Molecular function for CRYGB Gene

GENATLAS Biochemistry:
crystallin,gamma polypeptide B,9kDa
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Ontology (GO) - Molecular Function for CRYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens NAS 12507494
genes like me logo Genes that share ontologies with CRYGB: view
genes like me logo Genes that share phenotypes with CRYGB: view

Human Phenotype Ontology for CRYGB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CRYGB
  • Applied Biological Materials Clones for CRYGB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYGB Gene

Localization for CRYGB 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 CRYGB gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for CRYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CRYGB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CRYGB Gene

Pathways & Interactions for CRYGB Gene

SuperPathways for CRYGB Gene

No Data Available

Interacting Proteins for CRYGB Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000260988%0d%0a9606.ENSP00000282141%0d%0a
Selected Interacting proteins: P07316-CRGB_HUMAN ENSP00000260988 for CRYGB Gene via IID STRING

Gene Ontology (GO) - Biological Process for CRYGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0007601 visual perception NAS 12507494
GO:0070307 lens fiber cell development IEA --
GO:0070309 lens fiber cell morphogenesis IEA --
genes like me logo Genes that share ontologies with CRYGB: view

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

Drugs & Compounds for CRYGB Gene

No Compound Related Data Available

Transcripts for CRYGB Gene

mRNA/cDNA for CRYGB Gene

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

Unigene Clusters for CRYGB Gene

Crystallin, gamma B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CRYGB
  • Applied Biological Materials Clones for CRYGB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for CRYGB Gene

GeneLoc Exon Structure for
CRYGB
ECgene alternative splicing isoforms for
CRYGB

Expression for CRYGB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x20.6), Brain - Spinal cord (cervical c-1) (x7.6), and Brain - Substantia nigra (x5.8).

Protein differential expression in normal tissues from HIPED for CRYGB 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 CRYGB Gene



Protein tissue co-expression partners for CRYGB Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYGB Gene:

CRYGB

SOURCE GeneReport for Unigene cluster for CRYGB Gene:

Hs.248102

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

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

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for CRYGB Gene

Orthologs for CRYGB Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYGB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYGB 33 34
  • 98.67 (n)
rat
(Rattus norvegicus)
Mammalia Crygb 33
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Crygb 33 16 34
  • 87.43 (n)
dog
(Canis familiaris)
Mammalia CRYGB 33 34
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia CRYGB 33 34
  • 85.9 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 74 (a)
ManyToMany
-- 34
  • 69 (a)
ManyToMany
-- 34
  • 56 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia crygb-prov 33
zebrafish
(Danio rerio)
Actinopterygii crygmxl1 34
  • 65 (a)
ManyToMany
crygs3 33
  • 61.49 (n)
crygmxl2 34
  • 58 (a)
ManyToMany
Species where no ortholog for CRYGB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 CRYGB Gene

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

Paralogs for CRYGB Gene

(15) SIMAP similar genes for CRYGB Gene using alignment to 1 proteins:

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

Variants for CRYGB Gene

Sequence variations from dbSNP and Humsavar for CRYGB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs3214759 Pathogenic 208,146,054(+) ATTGG(-/C)CCCCA intron-variant
rs387907342 Pathogenic 208,145,954(-) TGCCC(-/C)AACCT intron-variant, reference, frameshift-variant
rs1000752205 -- 208,143,694(+) GACGG(G/T)CTTTG intron-variant
rs1000831739 -- 208,145,411(+) AGGCC(A/G)GATGC intron-variant
rs1001101187 -- 208,143,428(+) ATGCA(A/G)AGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYGB Gene

Variant ID Type Subtype PubMed ID
esv2721407 CNV deletion 23290073
nsv834517 CNV loss 17160897

Variation tolerance for CRYGB Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYGB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYGB Gene

Disorders for CRYGB Gene

MalaCards: The human disease database

(11) MalaCards diseases for CRYGB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 39, multiple types, autosomal dominant
  • cataract 39 multiple types
cataract 24, anterior polar
  • cataract 24
cataract 44
  • ctrct44
cataract 16, multiple types
  • cataract 16 multiple types
tibial neuropathy
  • posterior tibial neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search CRYGB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRGB_HUMAN
  • Cataract 39, multiple types (CTRCT39) [MIM:615188]: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. {ECO:0000269 PubMed:23288985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRYGB

Genetic Association Database (GAD)
CRYGB
Human Genome Epidemiology (HuGE) Navigator
CRYGB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYGB
genes like me logo Genes that share disorders with CRYGB: view

No data available for Genatlas for CRYGB Gene

Publications for CRYGB Gene

  1. Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling. (PMID: 14517968) Salim A … Zaidi ZH (Proteins 2003) 3 4 22 60
  2. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. (PMID: 23288985) AlFadhli S … Alkuraya F (Molecular vision 2012) 3 4 60
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60
  4. Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin. (PMID: 19384013) Kapur S … Rajkumar S (Indian journal of ophthalmology 2009) 3 45 60
  5. Affilin-novel binding molecules based on human gamma-B-crystallin, an all beta-sheet protein. (PMID: 17628592) Ebersbach H … Fiedler U (Journal of molecular biology 2007) 4 22 60

Products for CRYGB Gene

  • Addgene plasmids for CRYGB

Sources for CRYGB Gene

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