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CRYBB2 crystallin beta B2 [ Homo sapiens (human) ]

Gene ID: 1415, updated on 7-Dec-2018

Summary

Official Symbol
CRYBB2provided by HGNC
Official Full Name
crystallin beta B2provided by HGNC
Primary source
HGNC:HGNC:2398
See related
Ensembl:ENSG00000244752 MIM:123620
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCA2; CRYB2; CRYB2A; CTRCT3; D22S665
Summary
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. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CRYBB2 in Genome Data Viewer
Location:
22q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (25211660..25231869)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25615612..25627836)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene KIAA1671 Neighboring gene stathmin 3 pseudogene Neighboring gene crystallin beta B3 Neighboring gene uncharacterized LOC105372969 Neighboring gene immunoglobulin lambda like polypeptide 3, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract 3, multiple types
MedGen: C1832175 OMIM: 601547 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-03-13)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2013-03-13)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-crystallin B2
Names
CTA-221G9.7
beta-B2 crystallin
beta-crystallin Bp
eye lens structural protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009827.1 RefSeqGene

    Range
    5001..17225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000496.3NP_000487.1  beta-crystallin B2

    See identical proteins and their annotated locations for NP_000487.1

    Status: REVIEWED

    Source sequence(s)
    BC069535, BF847403, BM667912, Z99916
    Consensus CDS
    CCDS13831.1
    UniProtKB/Swiss-Prot
    P43320
    UniProtKB/TrEMBL
    R4UMM2
    Related
    ENSP00000381273.2, ENST00000398215.2
    Conserved Domains (1) summary
    pfam00030
    Location:108190
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    25211660..25231869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529900.2XP_011528202.1  beta-crystallin B2 isoform X1

    See identical proteins and their annotated locations for XP_011528202.1

    UniProtKB/Swiss-Prot
    P43320
    UniProtKB/TrEMBL
    R4UMM2
    Conserved Domains (1) summary
    pfam00030
    Location:108190
    Crystall; Beta/Gamma crystallin
  2. XM_006724141.3XP_006724204.1  beta-crystallin B2 isoform X1

    See identical proteins and their annotated locations for XP_006724204.1

    UniProtKB/Swiss-Prot
    P43320
    UniProtKB/TrEMBL
    R4UMM2
    Conserved Domains (1) summary
    pfam00030
    Location:108190
    Crystall; Beta/Gamma crystallin
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