CRYBA4 crystallin beta A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRYBA4provided by HGNC
Official Full Name: crystallin beta A4provided by HGNC
Primary source: HGNC:HGNC:2396
See related: Ensembl:ENSG00000196431 MIM:123631; AllianceGenome:HGNC:2396
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: CYRBA4; CTRCT23; MCOPCT4
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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (26590220..26630669)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (27070652..27093286)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (27017927..27026633)

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: 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?

A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
Title: A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
his study provides important reference value when narrowing down the number of pathogenic CRYBA4 nsSNPs and studying the pathogenesis of congenital cataracts. By using this method, we can easily find 44 high-risk pathogenic nsSNPs out of 157 CRYBA4 nsSNPs
Title: In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.
CRYBA4 duplication and CRYBB1 partial duplication identified in a family with autosomal dominant congenital cataract.
Title: Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia.
Title: Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.
Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea.
Title: A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia
Title: CRYBA4, a novel human cataract gene, is also involved in microphthalmia.

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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
Anophthalmia-microphthalmia syndrome MedGen: C5680330 GeneReviews: Not available	Compare labs
Cataract 23 MedGen: C3808012 OMIM: 610425 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

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:480625

STS-U59057 (e-PCR)
- UniSTS:35209

RH27794 (e-PCR)
- UniSTS:90257

G49194 (e-PCR)
- UniSTS:108973

NoName (e-PCR)
- UniSTS:483829

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

Process	Evidence Code	Pubs
involved_in camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: beta-crystallin A4

Names: beta crystallin A4 chain transcript PS; beta crystallin alpha 4 chain; beta-A4 crystallin; crystallin, beta polypeptide A4; 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_009825.1 RefSeqGene

Range

5000..13706

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001886.3 → NP_001877.1 beta-crystallin A4

See identical proteins and their annotated locations for NP_001877.1

Status: REVIEWED

Source sequence(s)

BC069404, BC096172, BF726612, BM667295, Z95115

Consensus CDS

CCDS13841.1

UniProtKB/Swiss-Prot

P53673, Q4VB22, Q6ICE4

UniProtKB/TrEMBL

A0A097PIJ6, A0A1B1PFW3

Related

ENSP00000346805.3, ENST00000354760.4

Conserved Domains (2) summary

smart00247
Location:106 → 194

XTALbg; Beta/gamma crystallins

pfam00030
Location:13 → 96

Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

26590220..26630669

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724140.4 → XP_006724203.1 beta-crystallin A4 isoform X1

UniProtKB/TrEMBL

A0A1B1PFW3

Conserved Domains (2) summary

smart00247
Location:111 → 199

XTALbg; Beta/gamma crystallins

pfam00030
Location:18 → 101

Crystall; Beta/Gamma crystallin