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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (25211661..25231869)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (25672859..25693033)
105.20220307	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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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
CRYB2 cataract-associating mutations S31W and R145W destabilize CRYB2 and promote thermal aggregation.The number of Trp fluorophores in CRYB2 is evolutionarily optimized to exquisitely perform their structural roles in the lens.
Title: Introduction of an extra tryptophan fluorophore by cataract-associating mutations destabilizes βB2-crystallin and promotes aggregation.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs

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 variants in ClinVar

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 response to stimulus	IEA Inferred from Electronic Annotation 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.

Genomic

NG_009827.1 RefSeqGene

Range

4995..17225

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000496.3 → NP_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, Q9UCM8

UniProtKB/TrEMBL

A0A0H3W5U0, R4UMM2

Related

ENSP00000381273.2, ENST00000398215.3

Conserved Domains (2) summary

smart00247
Location:18 → 100

XTALbg; Beta/gamma crystallins

pfam00030
Location:108 → 190

Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

25211661..25231869

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724141.4 → XP_006724204.1 beta-crystallin B2 isoform X1

See identical proteins and their annotated locations for XP_006724204.1

UniProtKB/Swiss-Prot

P43320, Q9UCM8

UniProtKB/TrEMBL

A0A0H3W5U0, R4UMM2

Related

ENSP00000498905.1, ENST00000651629.1

Conserved Domains (2) summary

smart00247
Location:18 → 100

XTALbg; Beta/gamma crystallins

pfam00030
Location:108 → 190

Crystall; Beta/Gamma crystallin

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

25672859..25693033

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325114.1 → XP_054181089.1 beta-crystallin B2 isoform X1

UniProtKB/Swiss-Prot

P43320, Q9UCM8

UniProtKB/TrEMBL

R4UMM2
XM_054325115.1 → XP_054181090.1 beta-crystallin B2 isoform X1

UniProtKB/Swiss-Prot

P43320, Q9UCM8

UniProtKB/TrEMBL

R4UMM2