Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CRYBG2 Gene

Aliases for CRYBG2 Gene

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

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.

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

Regulatory Elements for CRYBG2 Gene

Enhancers for CRYBG2 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
GH01G026348 2 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +5.1 5120 12.2 MLX DMAP1 YY1 ZNF143 ZNF263 NFYC MEF2D SSRP1 GLIS1 RCOR2 CD52 ACTG1P20 UBXN11 CEP85 CNKSR1 CRYBG2 LIN28A DHDDS SLC30A2 TRIM63
GH01G026274 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +76.2 76159 19.1 CREB3L1 AGO1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D ZNF610 GLIS1 CD52 UBXN11 CEP85 HMGN2 TRIM63 FAM110D NPM1P39 CRYBG2 CNKSR1 RPS6KA1
GH01G026313 1.4 FANTOM5 ENCODE 11.2 +41.9 41883 8.4 HDGF PKNOX1 ATF1 WRNIP1 ARID4B BRCA1 ZNF2 ZNF48 ZNF766 GATA2 CD52 UBXN11 SH3BGRL3 ZNF683 CRYBG2 LIN28A CEP85 ZNF593 ENSG00000236782 FAM110D
GH01G026387 1.1 ENCODE 11.7 -27.5 -27513 0.2 PKNOX1 FOXA2 MLX ARNT ARID4B DMAP1 SLC30A9 FOS SP5 ZHX2 LIN28A CRYBG2 UBXN11 CD52 DHDDS HMGN2 TRIM63 SLC30A2 EXTL1 LOC101928324
GH01G026391 1.1 Ensembl ENCODE 11.7 -31.6 -31550 0.4 HDGF CTCF FOXA2 ATF1 RB1 ARNT ETV1 WRNIP1 THRB RAD21 CRYBG2 CD52 UBXN11 PDIK1L HMGN2 FAM110D ENSG00000236782 ZNF593 SLC30A2 TRIM63
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYBG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYBG2 Gene

Chromosome:
1
Start:
26,321,859 bp from pter
End:
26,360,052 bp from pter
Size:
38,194 bases
Orientation:
Minus strand

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-AIM1L_HUMAN
    Recommended name:
    Absent in melanoma 1-like protein
    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

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

No data available for UniProtKB/Swiss-Prot for CRYBG2 Gene

Function 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

Inhibitory RNA Products

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

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

Inhibitory RNA Products

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

Primer Products

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 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia AIM1L 34 35
  • 84.26 (n)
cow
(Bos Taurus)
Mammalia LOC507142 34
  • 82.29 (n)
AIM1L 35
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1l 34
  • 79.21 (n)
mouse
(Mus musculus)
Mammalia Aim1l 34 35
  • 78.97 (n)
Crybg2 16
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1L 35
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1L 35
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIM1L 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIM1L 35
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AIM1L 35
  • 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)

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 Sequence Context AA Info Type
rs1000363802 -- 26,344,429(+) CCCTC(A/G)GTGGG nc-transcript-variant, reference, synonymous-codon
rs1000379511 -- 26,331,320(+) AATGA(A/T)GAGCT intron-variant
rs1000565221 -- 26,354,822(+) GGCAG(A/G)GGCAT upstream-variant-2KB
rs1000611625 -- 26,350,015(+) TCACT(A/G)TGTTG intron-variant
rs1000807790 -- 26,339,855(+) TAGCC(A/T)TTCCC 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)

Relevant External Links 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

Relevant External Links for CRYBG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.G. … Bentley D.R. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 64
  4. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PMID: 17672918) Szafranski K. … Platzer M. (Genome Biol. 2007) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for CRYBG2 Gene

Sources for CRYBG2 Gene

Content
Loading form....