Aliases &
Descriptions
for CRYBA4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| crystallin, beta A41 2 | | Beta-A4 crystallin2 3 | | beta-crystallin A42 | | crystallin, beta polypeptide A42 | | eye lens structural protein2 |
Export aliases for CRYBA4 gene to outside databasesPrevious GC identifers: GC22P023714 GC22P025342 GC22P027017 |
Summaries
for CRYBA4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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)
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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CRYBA4 gene promoter:
Pax-5 Elk-1 POU2F1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CRYBA4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q11.2-q13.1|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 gene densities for chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P009965: view genomic region
(about GC identifiers)
Start:
|
9,965,449 bp from pter |
End:
|
9,974,165 bp from pter |
Size:
|
8,717 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr22+ 27,017,928-27,026,636 |
RefSeq DNA sequence:- NC_000022.10 NT_011520.12
|
Proteins
for CRYBA4 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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;
PDB structures from  and Proteopedia  :3LWK (3D)
Secondary accessions: Q4VB22 Q6ICE4Explore the universe of human proteins at neXtProt for CRYBA4: NX_P53673
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001877.1
ENSEMBL proteins: ENSP00000346805
Human Recombinant Proteins
1 Gene Ontology (GO) cellular component term (GO ID links to tree view): About this table
CRYBA4 for ontologies About GeneDecksing
Antibodies for CRYBA4:
Assays 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 |
Gene Function
for CRYBA4 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
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 A42 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0005212 | structural constituent of eye lens |
IEA | -- |
About this table
CRYBA4 for ontologies About GeneDecksing
|
Pathways & Interactions
for CRYBA4 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for CRYBA4
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYBA4
2 Interacting proteins for CRYBA4 (P536732) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) 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,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for CRYBA4
|
Transcripts
for CRYBA4 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for CRYBA4 gene: NM_001886.2 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): BM667756 BM698529 BU736929 BU735706 BF726830 BM667761 BU735701 BU735752 BM667815 BM705959 BM696294 BM672017 BM668905 BU734981 BU735011 BU735051 BM699085 BM667739 BM706444 BU735111 AI741592 BM669099 BM664362 BM705680
 highest scoring ESTs for CRYBA4:U59057 AA393787 AA449982 AI004694 AI038505 AI277901 AI741592 AW950473 BC069404 BF727046 Unigene Cluster for CRYBA4: Crystallin, beta A4 Hs.57690 [show with all ESTs]Unigene Representative Sequence: NM_001886
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA4
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
|---|
|
| SP1: | | | | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for CRYBA4
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000354760(uc003acz.3) ENST00000466315
|
Expression
for CRYBA4 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| CRYBA4 expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching CRYBA4 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 36737_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
1.00 |
1.00 |
U59057 |
1.00 |
1.00 |
1.00 |
1 |
| 206843_at2, 3
|
U133-A |
1 |
0.73 |
1.00 |
-- |
-- |
NM_001886 |
0.60 |
1.00 |
0.82 |
1 |
| 206843_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
CRYBA4 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGAACTGGTC
SOURCE GeneReport for Unigene cluster: Hs.57690
Expression variation in blood from EXPOLDB for CRYBA4 SABiosciences Custom PCR Arrays for CRYBA4
|
Orthologs
for CRYBA4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for CRYBA4 gene from 5/7 species (see all 7)
About this table Species with no ortholog for CRYBA4
ENSEMBL Gene Tree for CRYBA4 (if available) |
Paralogs
for CRYBA4 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for CRYBA4 gene
- CRYBB32 CRYBA12 CRYBB12 CRYBB22 CRYBA22
CRYBA4 for paralogs About GeneDecksing
|
Genomic Variants
for CRYBA4 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 22 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for CRYBA4 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CRYBA4
1 CNV: 4121 | | QIAGEN SeqTarget long-range PCR primers for resequencing CRYBA4 |
|
Disorders & Mutations
for CRYBA4 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CRYBA4 for disorders About GeneDecksing
OMIM: 123631 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
1  Novoseek disease relationship for CRYBA4 gene
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cataract |
67 |
3 |
20450675 (1), 19262743 (1) |
About this table
Locus Specific Mutation Databases (LSDB): CRYBA4
Human Gene Mutation Database (HGMD): CRYBA4
Human Genome Epidemiology (HuGE) Navigator: CRYBA4 (1 document)
Export disorders and mutations for CRYBA4 gene to outside databases
|
Medical News
for CRYBA4 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for CRYBA4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/24 PubMed articles for CRYBA4 gene, integrated from 7 sources (see all 24):
(articles sorted by number of sources associating them with CRYBA4)- 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, 7 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)
- Shotgun identification of protein modifications from protein complexes and lens tissue. (PubMed id 12060738)1, 2 MacCoss M.J....Yates J.R. III (2002)
- 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, 7 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, 7 van Rens G.L....Bloemendal H. (1992)
|
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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for CRYBA4 |
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