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CRYBB3 crystallin beta B3 [ Homo sapiens (human) ]

Gene ID: 1417, updated on 7-Jun-2020

Summary

Official Symbol
CRYBB3provided by HGNC
Official Full Name
crystallin beta B3provided by HGNC
Primary source
HGNC:HGNC:2400
See related
Ensembl:ENSG00000100053 MIM:123630
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
CRYB3; CATCN2; CTRCT22
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-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CRYBB3 in Genome Data Viewer
Location:
22q11.23
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (25194244..25207617)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25595817..25603326)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene KIAA1671 Neighboring gene KIAA1671 antisense RNA 1 Neighboring gene stathmin 3 pseudogene Neighboring gene crystallin beta B2 Neighboring gene uncharacterized LOC105372969

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125772, MGC125773, MGC125774

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of eye lens IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lens development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
beta-crystallin B3
Names
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_009828.1 RefSeqGene

    Range
    5001..12502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004076.5NP_004067.1  beta-crystallin B3

    See identical proteins and their annotated locations for NP_004067.1

    Status: REVIEWED

    Source sequence(s)
    BC102021, BF726163, BM711382
    Consensus CDS
    CCDS13830.1
    UniProtKB/Swiss-Prot
    P26998
    Related
    ENSP00000215855.2, ENST00000215855.7
    Conserved Domains (1) summary
    pfam00030
    Location:115197
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    25194244..25207617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028599.2XP_016884088.1  beta-crystallin B3 isoform X2

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