CRYBB2 crystallin beta B2 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:2398
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: mouse all
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Genomic context

Location:: 22q11.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (25211661..25231869)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (25672859..25693033)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (25615606..25627836)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of betaB2-crystallin tryptophan mutants reveals two different folding states in solution.
Title: Characterization of βB2-crystallin tryptophan mutants reveals two different folding states in solution.
ATCUN-like Copper Site in betaB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.
Title: ATCUN-like Copper Site in βB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation.
Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by betaB2-G149V Mutation.
Title: Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.
Conformational stability of the deamidated and mutated human betaB2-crystallin.
Title: Conformational stability of the deamidated and mutated human βB2-crystallin.
CRYbetaB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer.
Title: CRYβB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer.
A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Title: A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
Polymorphisms in CRYBB2 encoding betaB2-crystallin are associated with antisaccade performance and memory function.
Title: Polymorphisms in CRYBB2 encoding βB2-crystallin are associated with antisaccade performance and memory function.
betaB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
Title: βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
Cataract-Associated New Mutants S175G/H181Q of betaBeta2-Crystallin and P24S/S31G of gammaD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Title: Cataract-Associated New Mutants S175G/H181Q of βΒ2-Crystallin and P24S/S31G of γD-Crystallin Are Involved in Protein Aggregation by Structural Changes.
Crystallin beta B2 (CRYbetaB2) overexpression in triple-negative breast cancers increases invasive cellular behaviors, tumor growth, IL6 production, immune cell chemoattraction, and the expression of metastasis-associated genes. Combined overexpression of both CRYbetaB2 and the pseudogene, CRYbetaB2P1, is found to suppress cell growth.
Title: A functional role for the cancer disparity-linked genes, CRYβB2 and CRYβB2P1, in the promotion of breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 3 multiple types MedGen: C1832175 OMIM: 601547 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2023-01-10) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2023-01-10) ClinGen Genome Curation Page

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481543

D22S1035 (e-PCR)
- UniSTS:147773

D22S557 (e-PCR)
- UniSTS:12893

SHGC-7693 (e-PCR)
- UniSTS:30829

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of eye lens	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in lens development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-crystallin B2

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

NCBI Reference Sequences (RefSeq)

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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.