CRYBA4 Gene
protein-coding GIFtS: 59
GCID: GC22P027017
|
|
crystallin, beta A4
| |
Aliases
for CRYBA4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Crystallin, Beta A41 2 | | Beta-A4 Crystallin2 3 | | MCOPCT42 5 | | Beta-Crystallin A42 | | Crystallin, Beta Polypeptide A42 | | Eye Lens Structural Protein2 |
Export aliases for CRYBA4 gene to outside databasesPrevious GC identifers: GC22P023714 GC22P025342 GC22P009965 |
Summaries
for CRYBA4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CRYBA4:
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes themajor proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lenscentral fiber cells lose their nuclei during development, these crystallins are made and then retained throughoutlife, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gammafamilies; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further dividedinto acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connectingpeptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of theC-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates ofdifferent 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 byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CRBA4_HUMAN, P53673Function: Crystallins are the dominant structural components of the vertebrate eye lens
Gene Wiki entry for CRYBA4
|
Genomic Views
for CRYBA4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CRYBA4 gene promoter:
Elk-1 Pax-5 POU2F1 POU2F1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for CRYBA4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYBA4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q12.1 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1CRYBA4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P027017: view genomic region
(about GC identifiers)
Start:
|
27,017,928 bp from pter |
End:
|
27,026,636 bp from pter |
Size:
|
8,709 bases |
Orientation:
|
plus strand |
|
Proteins
for CRYBA4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CRBA4_HUMAN, P53673 (See
protein sequence)Recommended Name: Beta-crystallin A4 Size: 196 amino acids; 22374 Da
Subunit: Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to bestabilized through interactions between the N-terminal arms (By similarity)
Mass spectrometry: Mass=22285; Mass_error=3; Method=Electrospray; Range=2-196; Source=PubMed:8999933;
Sequence caution: Sequence=CAG30310.1; Type=Erroneous initiation;
1 PDB 3D structure from  and Proteopedia  for CRYBA4:3LWK (3D)
Secondary accessions: Q4VB22 Q6ICE4Explore the universe of human proteins at neXtProt for CRYBA4: NX_P53673
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P53673
CRYBA4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001877.1
ENSEMBL proteins: ENSP00000346805
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005625 | soluble fraction |
-- | -- |
CRYBA4 for ontologies About GeneDecksing
CRYBA4 Antibody Products:
Assay Products for CRYBA4: |
Protein
Domains /
Families
for CRYBA4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CRYBA4 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P53673ProtoNet protein and cluster: P53673 2 Blocks protein families: IPB001064 Beta and gamma crystallin IPB011024 Gamma-crystallin related
UniProtKB/Swiss-Prot: CRBA4_HUMAN, P53673Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifsSimilarity: Belongs to the beta/gamma-crystallin familySimilarity: Contains 4 beta/gamma crystallin 'Greek key' domains |
Function
for CRYBA4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CRBA4_HUMAN, P53673Function: Crystallins are the dominant structural components of the vertebrate eye lens Genatlas biochemistry entry for CRYBA4:crystallin,beta polypeptide A4
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBA4
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBA4 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0005212 | structural constituent of eye lens |
IEA | -- |
CRYBA4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CRYBA4:
|
Pathways & Interactions
for CRYBA4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYBA4
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for CRYBA4 (P536732, 3 ENSP000003468054) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
CRYBA4 for ontologies About GeneDecksing
|
Drugs & Compounds
for CRYBA4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CRYBA4
Search CenterWatch for drugs/clinical trials and news about CRYBA4 / CRBA4
|
Transcripts
for CRYBA4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CRYBA4 gene: NM_001886.2 Unigene Cluster for CRYBA4: Crystallin, beta A4 Hs.57690 [show with all ESTs]Unigene Representative Sequence: NM_0018862 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000354760(uc003acz.4) ENST00000466315
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBA4 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: BC069404.1 BC096171.3 BC096172.3 BC096173.3 BC096174.1 CR456424.1 U59057.1 2 DOTS entries: DT.97855491 DT.100747019 24/208 AceView cDNA sequences (see all 208): BU735111 BF727031 BM669381 BM705828 AA449982 BU735752 BF727206 BU735031 BM696821 BM668161 BU734981 BM682191 BM705657 BU734718 BF726830 BU734667 BM668955 BU735011 BM669099 BF726416 BU735128 BM696303 BM705741 BM664354
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA4 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
|---|
|
| SP1: | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for CRYBA4
|
Expression
for CRYBA4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CRYBA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAACTGGTC
About this image
See CRYBA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRYBA4
SOURCE GeneReport for Unigene cluster: Hs.57690
SABiosciences Custom PCR Arrays for CRYBA4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRYBA4
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBA4 |
Orthologs
for CRYBA4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CRYBA4 gene from 2/8 species (see all 8) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CRYBA41 |
crystallin, beta A4 |
71.78(n)
68.78(a) |
|
373998 NM_204178.1 NP_989509.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.158022 |
Transcribed sequence with weak similarity to protein more |
73.99(n) |
|
CK352468.1 |
ENSEMBL Gene Tree for CRYBA4 (if available)
TreeFam Gene Tree for CRYBA4 (if available) |
Paralogs
for CRYBA4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CRYBA4 gene
- CRYBB32 CRYGB2 CRYBA12 CRYBB22 CRYGD2 CRYGA2 CRYBB12 CRYGC2
- CRYGN2 CRYBA22 CRYGS2
15 SIMAP similar genes for CRYBA4 using alignment to 1 protein entry: CRBA4_HUMAN:CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3 CRYGB
CRYBG3 CRYGC CRYGA CRYGS CRYGD AIM1L
AIM1 CRYGN DKFZp434L1713
CRYBA4 for paralogs About GeneDecksing
|
Genomic Variants
for CRYBA4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CRYBA4 (27017928 - 27026636 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CRYBA4
1 CNV: 4121
Human Gene Mutation Database (HGMD): CRYBA4
Locus Specific Mutation Databases (LSDB): CRYBA4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRYBA4 |
|
Disorders
/ Diseases
for CRYBA4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CRYBA4 for disorders About GeneDecksing
OMIM gene information: 123631
OMIM disorders: 610425 610426
UniProtKB/Swiss-Prot: CRBA4_HUMAN, P53673
Defects in CRYBA4 are the cause of cataract zonular type 2 (CZ2) [MIM:610425]; also known as lamellar cataract2. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting ofpowdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens.The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucentthat vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, thoughsometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may haveprojections from their outer edges known as riders or spokes Defects in CRYBA4 are a cause of microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426].Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye tocomplete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring ofthe retina and choroid, cataractand other abnormalities like cataract may also be present
10  diseases for CRYBA4: About MalaCardscataract, lamellar 2 cataract, zonular microphthalmia cataract cataract
microphthalmia with cataract 4 microphthalmia congenital cataracts coloboma
neurofibromatosis choroiditis
2 diseases from the University of Copenhagen DISEASES database for CRYBA4:Microphthalmia Coloboma 1 Novoseek disease relationship for CRYBA4 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cataract |
67 |
3 |
20450675 (1), 19262743 (1) |
Human Genome Epidemiology (HuGE) Navigator: CRYBA4 (1 document)
Export disorders for CRYBA4 gene to outside databases
|
Publications
for CRYBA4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CRYBA4 gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with CRYBA4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PubMed id 8999933)1, 2, 3 Lampi K.J....David L.L. (1997)
- Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2. (PubMed id 7504514)1, 2, 9 Bijlsma E.K.... Hulsebos T.J.M. (1993)
- CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (PubMed id 16960806)1, 2 Billingsley G.... Heon E. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- [Feral domestic pigeons as a hygienic problem in big cities--the situation in Magdeburg] (PubMed id 960806)1, 3 Schuschke G....Rosenkranz M. (1976)
- A nonsense mutation in CRYBB1 associated with autosom al dominant cataract linked to human chromosome 22q. (PubMed id 12360425)1, 9 Mackay D.S....Shiels A. (2002)
- Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2-->q13.1. (PubMed id 1424806)1, 9 van Rens G.L....Bloemendal H. (1992)
- Association of high myopia with crystallin beta A4 (CR YBA4) gene polymorphisms in the linkage-identified MYP6 locus. (PubMed id 22792142)1 Ho D.W....Yip S.P. (2012)
|
External Searches for CRYBA4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CRYBA4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CRYBA4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CRYBA4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CRYBA4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CRYBA4 gene:
Search GeneIP for patents involving CRYBA4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CRYBA4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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