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Aliases for CRYBG2 Gene

Aliases for CRYBG2 Gene

  • Crystallin Beta-Gamma Domain Containing 2 2 3 5
  • Beta-Gamma Crystallin Domain Containing 2 2 3
  • Absent In Melanoma 1-Like Protein 3 4
  • Absent In Melanoma 1 Like 2 3
  • AIM1L 3 4
  • Beta/Gamma Crystallin Domain-Containing Protein 2 3

External Ids for CRYBG2 Gene

Previous HGNC Symbols for CRYBG2 Gene

  • AIM1L

Summaries for CRYBG2 Gene

GeneCards Summary for CRYBG2 Gene

CRYBG2 (Crystallin Beta-Gamma Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is CRYBG1.

Additional gene information for CRYBG2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBG2 Gene

Genomics for CRYBG2 Gene

GeneHancer (GH) Regulatory Elements for CRYBG2 Gene

Promoters and enhancers for CRYBG2 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
GH01J026274 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +76.2 76186 19.1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN SH3BGRL3 HMGN2 ARID1A LOC101928324 CD52 GPN2 NPM1P39 UBXN11 CEP85 LIN28A
GH01J026313 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.2 +41.9 41910 8.4 HDGF PKNOX1 SMAD1 ARNT ARID4B ZNF2 IRF4 ZNF766 ZNF213 E2F8 CD52 UBXN11 SH3BGRL3 ZNF683 CRYBG2 LIN28A CEP85 ENSG00000236782 ZNF593 FAM110D
GH01J026348 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +5.1 5147 12.2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 CD52 UBXN11 CEP85 ARID1A CNKSR1 CRYBG2 RPL17P9 HMGN2 LIN28A DHDDS
GH01J026224 Promoter/Enhancer 1.3 Ensembl ENCODE 10.6 +134.6 134627 1.3 ELF3 PKNOX1 ARID4B DMAP1 ZNF2 DNMT3B THRB ZNF48 RARA YY1 CD52 FAM110D ENSG00000236782 CEP85 ZNF593 CRYBG2 TRIM63 EXTL1 HMGN2 UBXN11
GH01J026391 Enhancer 1 Ensembl ENCODE 11.7 -31.5 -31521 0.4 HDGF MEIS2 GTF2F1 CTCF USF1 ATF1 RB1 ARNT THRB RAD21 CRYBG2 UBXN11 CD52 PDIK1L HMGN2 FAM110D ENSG00000236782 ZNF593 SLC30A2 TRIM63
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRYBG2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CRYBG2 Gene

Genomic Locations for CRYBG2 Gene
chr1:26,321,698-26,360,080
(GRCh38/hg38)
Size:
38,383 bases
Orientation:
Minus strand
chr1:26,648,350-26,680,621
(GRCh37/hg19)

Genomic View for CRYBG2 Gene

Genes around CRYBG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBG2 Gene

Proteins for CRYBG2 Gene

  • Protein details for CRYBG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1P7-CRBG2_HUMAN
    Recommended name:
    Beta/gamma crystallin domain-containing protein 2
    Protein Accession:
    Q8N1P7
    Secondary Accessions:
    • B2RNG3
    • Q5T137
    • Q5T150

    Protein attributes for CRYBG2 Gene

    Size:
    616 amino acids
    Molecular mass:
    68646 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI15847.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15850.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for CRYBG2 Gene

Post-translational modifications for CRYBG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CRYBG2 Gene

Domains & Families for CRYBG2 Gene

Gene Families for CRYBG2 Gene

Suggested Antigen Peptide Sequences for CRYBG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N1P7

UniProtKB/Swiss-Prot:

CRBG2_HUMAN :
  • Belongs to the beta/gamma-crystallin family.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBG2: view

Function for CRYBG2 Gene

Phenotypes From GWAS Catalog for CRYBG2 Gene

Gene Ontology (GO) - Molecular Function for CRYBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with CRYBG2: view
genes like me logo Genes that share phenotypes with CRYBG2: view

Animal Model Products

miRNA for CRYBG2 Gene

miRTarBase miRNAs that target CRYBG2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CRYBG2 Gene

Localization for CRYBG2 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 CRYBG2 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CRYBG2 Gene

Pathways & Interactions for CRYBG2 Gene

SuperPathways for CRYBG2 Gene

No Data Available

Interacting Proteins for CRYBG2 Gene

Gene Ontology (GO) - Biological Process for CRYBG2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CRYBG2 Gene

Drugs & Compounds for CRYBG2 Gene

No Compound Related Data Available

Transcripts for CRYBG2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBG2 Gene

No ASD Table

Relevant External Links for CRYBG2 Gene

GeneLoc Exon Structure for
CRYBG2
ECgene alternative splicing isoforms for
CRYBG2

Expression for CRYBG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBG2 Gene:

CRYBG2
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBG2 Gene

Orthologs for CRYBG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIM1L 34 33
  • 99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIM1L 34 33
  • 84.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC507142 33
  • 82.29 (n)
AIM1L 34
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1l 33
  • 79.21 (n)
mouse
(Mus musculus)
Mammalia Aim1l 34 33
  • 78.97 (n)
OneToOne
Crybg2 16
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1L 34
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1L 34
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIM1L 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIM1L 34
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AIM1L 34
  • 47 (a)
OneToOne
Species where no ortholog for CRYBG2 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)
  • 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)
  • 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 CRYBG2 Gene

ENSEMBL:
Gene Tree for CRYBG2 (if available)
TreeFam:
Gene Tree for CRYBG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRYBG2: view image

Paralogs for CRYBG2 Gene

Paralogs for CRYBG2 Gene

genes like me logo Genes that share paralogs with CRYBG2: view

Variants for CRYBG2 Gene

Sequence variations from dbSNP and Humsavar for CRYBG2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000363802 -- 26,344,429(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000379511 -- 26,331,320(-) A/T intron_variant
rs1000565221 -- 26,354,822(-) G/A upstream_transcript_variant
rs1000611625 -- 26,350,015(-) A/G intron_variant
rs1000807790 -- 26,339,855(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBG2 Gene

Variant ID Type Subtype PubMed ID
esv1007945 CNV deletion 20482838
esv1693475 CNV deletion 17803354
esv2658785 CNV deletion 23128226
esv2745685 CNV deletion 23290073
esv2745697 CNV deletion 23290073
esv2745708 CNV deletion 23290073
esv993255 CNV deletion 20482838
nsv1114963 CNV deletion 24896259
nsv1125458 CNV tandem duplication 24896259
nsv1150710 CNV insertion 26484159
nsv545907 CNV loss 21841781

Variation tolerance for CRYBG2 Gene

Gene Damage Index Score: 14.48; 96.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYBG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBG2 Gene

Disorders for CRYBG2 Gene

Additional Disease Information for CRYBG2

No disorders were found for CRYBG2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CRYBG2 Gene

Publications for CRYBG2 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  4. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PMID: 17672918) Szafranski K … Platzer M (Genome biology 2007) 3 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for CRYBG2 Gene

Sources for CRYBG2 Gene

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