CRYBA2 crystallin beta A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRYBA2provided by HGNC
Official Full Name: crystallin beta A2provided by HGNC
Primary source: HGNC:HGNC:2395
See related: Ensembl:ENSG00000163499 MIM:600836; AllianceGenome:HGNC:2395
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: CTRCT42
Summary: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain 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 defined 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 but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]
Expression: Biased expression in stomach (RPKM 2.2), adrenal (RPKM 1.3) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (218990190..218993422, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219478565..219481797, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (219854912..219858144, complement)

Chromosome 2 - NC_000002.12 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 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 mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
Title: A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
The cell-stress molecules alphaB-crystallin and iNOS are overexpressed in GNE myopathy muscle and may identify early disease mechanisms.
Title: Cell stress molecules in the skeletal muscle of GNE myopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

Submit: New GeneRIF Correction

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 42 MedGen: C4011454 OMIM: 115900 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. 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

MARC_12911-12912:999888716:3 (e-PCR)
- UniSTS:267477

Cryba2 (e-PCR), detects polymorphism
- UniSTS:231401

RH70935 (e-PCR)
- UniSTS:7671

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
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 biological_process	ND No biological Data available more info
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

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: beta-crystallin A2

Names: 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_029384.1 RefSeqGene

Range

4984..8216

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_057093.2 → NP_476434.1 beta-crystallin A2

See identical proteins and their annotated locations for NP_476434.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' UTR region as compared to variant 1, but encodes the identical protein.

Source sequence(s)

AC097468, BC006285

Consensus CDS

CCDS2429.1

UniProtKB/Swiss-Prot

P53672, Q4ZFX0, Q9Y562

Related

ENSP00000295728.2, ENST00000295728.7

Conserved Domains (1) summary

pfam00030
Location:14 → 98

Crystall; Beta/Gamma crystallin
NM_057094.2 → NP_476435.1 beta-crystallin A2

See identical proteins and their annotated locations for NP_476435.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a different 5' UTR region when compared to variant 1, and lacks an internal 5' UTR region when compared to variant 2. It encodes a protein identical to that encoded by variants 2 and 3.

Source sequence(s)

AC097468

Consensus CDS

CCDS2429.1

UniProtKB/Swiss-Prot

P53672, Q4ZFX0, Q9Y562

Related

ENSP00000375946.2, ENST00000392096.6

Conserved Domains (1) summary

pfam00030
Location:14 → 98

Crystall; Beta/Gamma crystallin