Details for: CRYBA2

Gene ID: 1412

Symbol: CRYBA2

Ensembl ID: ENSG00000163499

Description: crystallin beta A2

Associated with

Other Information

Genular Protein ID: 3815956732

Symbol: CRBA2_HUMAN

Name: Beta-crystallin A2

UniProtKB Accession Codes:

P53672 Q4ZFX0 Q9Y562

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7490092

Title: Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1.

PubMed ID: 7490092

DOI: 10.1006/geno.1995.1186

PubMed ID: 23508780

Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PubMed ID: 23508780

DOI: 10.1007/s00439-013-1289-0

PubMed ID: 24035193

Title: Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

PubMed ID: 24035193

DOI: 10.1016/j.ajhg.2013.08.002

Sequence Information:

  • Length: 197
  • Mass: 22096
  • Checksum: F9C8E7CD48EB16C7
  • Sequence:
    • MSSAPAPGPA PASLTLWDEE DFQGRRCRLL SDCANVCERG GLPRVRSVKV ENGVWVAFEY 
PDFQGQQFIL EKGDYPRWSA WSGSSSHNSN QLLSFRPVLC ANHNDSRVTL FEGDNFQGCK 
FDLVDDYPSL PSMGWASKDV GSLKVSSGAW VAYQYPGYRG YQYVLERDRH SGEFCTYGEL 
GTQAHTGQLQ SIRRVQH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.