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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CRYAB Gene

protein-coding GIFtS: 67
GCID: GC11M111813

crystallin, alpha B

(Previous symbol: CRYA2)

Explore 66 diseases affiliated with
CRYAB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Crystallin, Alpha B¹ ²		CTPP2² ⁵
CRYA2¹ ² ³ ⁵		Alpha-Crystallin B Chain²
HSPB5¹ ²		Heat-Shock 20 KD Like-Protein²
Heat Shock Protein Beta-5² ³		Alpha(B)-Crystallin¹
Renal Carcinoma Antigen NY-REN-27² ³		HspB5³
Rosenthal Fiber Component² ³

External Ids:	HGNC: 2389¹	Entrez Gene: 1410²	Ensembl: ENSG00000109846⁷	OMIM: 123590⁵	UniProtKB: P02511³

Export aliases for CRYAB gene to outside databases

Previous GC identifers: GC11M114132 GC11M113291 GC11M111316 GC11M111284 GC11M107703

(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 CRYAB:

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. Alpha crystallins are composed of two gene products: alpha-A and alpha-B,

for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat

shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature

proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates.

Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40

subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha

crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene

products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed

widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a

missense mutation cosegregated in a family with a desmin-related myopathy. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511

Function: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing

aggregation of various proteins under a wide range of stress conditions

Gene Wiki entry for CRYAB

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CRYAB gene promoter:
Max1 Sp1 NF-kappaB NF-kappaB1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CRYAB promoter sequence

Search SABiosciences Chromatin IP Primers for CRYAB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYAB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.3-q23.1 Ensembl cytogenetic band: 11q23.1 HGNC cytogenetic band: 11q22.3-q23.1

CRYAB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYAB gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M111813: view genomic region (about GC identifiers)

Start:	111,779,289 bp from pter	End:	111,794,446 bp from pter
Size:	15,158 bases	Orientation:	minus strand

(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: CRYAB_HUMAN, P02511 (See protein sequence)

Recommended Name: Alpha-crystallin B chain

Size: 175 amino acids; 20159 Da

Subunit: Heteropolymer composed of three CRYAA and one CRYAB subunits. Aggregates with homologous proteins, including

the small heat shock protein HSPB1, to form large heteromeric complexes. Inter-subunit bridging via zinc ions enhances

stability, which is crucial as there is no protein turn over in the lens. Interacts with HSPBAP1 and TTN/titin

Subcellular location: Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear

structures known as SC35 speckles or nuclear splicing speckles

Mass spectrometry: Mass=20201; Method=Electrospray; Range=1-175; Source=PubMed:8175657;

Mass spectrometry: Mass=20281; Method=Electrospray; Range=1-175; Note=With 1 phosphate group; Source=PubMed:8175657;

Mass spectrometry: Mass=20360; Method=Electrospray; Range=1-175; Note=With 2 phosphate groups; Source=PubMed:8175657;

Mass spectrometry: Mass=20199; Method=Electrospray; Range=1-175; Source=PubMed:10930324;

Mass spectrometry: Mass=20278; Method=Electrospray; Range=1-175; Note=With 1 phosphate group; Source=PubMed:10930324;

6/13 PDB 3D structures from and Proteopedia for CRYAB (see all 13):

2KLR (3D)

2WJ7 (3D)

2Y1Y (3D)

2Y1Z (3D)

2Y22 (3D)

2YGD (3D)

Secondary accessions: B0YIX0 O43416 Q9UC37 Q9UC38 Q9UC39 Q9UC40 Q9UC41

Explore the universe of human proteins at neXtProt for CRYAB: NX_P02511

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02511

CRYAB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001876.1

ENSEMBL proteins:

ENSP00000436051 ENSP00000432454 ENSP00000435046 ENSP00000435411 ENSP00000433560

ENSP00000437149 ENSP00000227251 ENSP00000434247 ENSP00000435960 ENSP00000436089

ENSP00000434793 ENSP00000431754 ENSP00000434269 ENSP00000432182 ENSP00000435931

Human Recombinant Protein Products for CRYAB:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005626	insoluble fraction	--	--
GO:0005634	nucleus	IDA	19464326
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--

CRYAB for ontologies About GeneDecksing

CRYAB Antibody Products:

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	Enzo Life Sciences assays for CRYAB
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CRYAB for domains About GeneDecksing

5 InterPro domains/families:

IPR002068 a-crystallin/Hsp20_dom

IPR012273 Alpha-crystallin_B

IPR008978 HSP20-like_chaperone

IPR001436 Alpha-crystallin/HSP

IPR003090 Alpha-crystallin_N

Graphical View of Domain Structure for InterPro Entry P02511

ProtoNet protein and cluster: P02511

2 Blocks protein families:

IPB001436 Alpha crystallin signature

IPB002068 Heat shock protein Hsp20

UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511

Similarity: Belongs to the small heat shock protein (HSP20) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CRYAB_HUMAN, P02511

Function: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing

aggregation of various proteins under a wide range of stress conditions

Genatlas biochemistry entry for CRYAB:

crystallin,alpha polypeptide 2 (alphaB),selectively expressed in slow-twitch oxidative muscle fibers,with

chaperone-like activity and maintenance of cytoskeletal network in muscle,involved in desmin related myopathy and in

cataract,alpha crystallin/small hsp family

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005212	structural constituent of eye lens	IEA	--
GO:0005515	protein binding	IPI	16225851
GO:0008017	microtubule binding	IEA	--
GO:0008092	cytoskeletal protein binding	--	--
GO:0042803	protein homodimerization activity	IPI	19646995

CRYAB for ontologies About GeneDecksing

Phenotypes:
11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cryab):

adipose tissue	behavior/neurological	craniofacial	digestive/alimentary	growth/size
immune system	mortality/aging	muscle	nervous system	skeleton
vision/eye

CRYAB for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cryab/Hspb2^{Cryab/tm1Wawr} for CRYAB

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CRYAB

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CRYAB

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Protein processing in endoplasmic reticulum

Protein processing in endoplasmic reticulum

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for CRYAB):

Protein processing in endoplasmic reticulum

CRYAB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CRYAB

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/39 Interacting proteins for CRYAB (P02511^{1, 2, 3} ENSP00000227251⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CRYAA	P02489²^,³, ENSP00000291554⁴	MINT-17438 MINT-17439 MINT-8286941 MINT-17437 MINT-8408080 I2D: score=4 STRING: ENSP00000291554
CRYGC	P07315²^,³, ENSP00000282141⁴	MINT-14213 MINT-14211 MINT-14212 I2D: score=3 STRING: ENSP00000282141
CRYBB2	P43320²^,³	MINT-17764 MINT-17762 MINT-17763 I2D: score=4
HSPB1	P04792²^,³, ENSP00000248553⁴	MINT-8408096 MINT-17168 I2D: score=4 STRING: ENSP00000248553
CRYBA1	P05813²^,³, ENSP00000225387⁴	MINT-3388193 MINT-3388174 I2D: score=1 STRING: ENSP00000225387

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0002088	lens development in camera-type eye	IEA	--
GO:0006006	glucose metabolic process	IEA	--
GO:0006457	protein folding	IEA	--
GO:0006936	muscle contraction	TAS	9731540

CRYAB for ontologies About GeneDecksing

(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

CRYAB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CRYAB
10/24 Novoseek chemical compound relationships for CRYAB gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
succinimide	48.8	1	8142454 (1)
methionine sulfoxide	47.4	3	9679446 (1), 9068373 (1)
sodium arsenite	27.9	1	2023914 (1)
chloramphenicol	18.2	3	8524275 (1), 1911643 (1)
manganese superoxide	13.7	3	14961354 (1), 16750834 (1)
sucrose	10.6	2	8435441 (1), 9431459 (1)
glucose	3.01	3	7912928 (2), 11162507 (1)
methionine	2.96	1	9514893 (1)
glutamine	0.628	2	12748948 (1), 9273821 (1)
ccl4	0.122	1	11830331 (1)

Search CenterWatch for drugs/clinical trials and news about CRYAB

(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, Sirion Biotech, 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 CRYAB gene:

NM_001885.1

Unigene Cluster for CRYAB:

Crystallin, alpha B

Hs.53454 [show with all ESTs]

Unigene Representative Sequence: BM544422

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000526180 ENST00000524660 ENST00000533280 ENST00000525823 ENST00000533475

ENST00000527950(uc001pmf.1) ENST00000227251 ENST00000531198 ENST00000528961

ENST00000527899 ENST00000526167 ENST00000529647 ENST00000533971(uc010rwp.1)

ENST00000528628 ENST00000533879

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Additional cDNA sequence:

AF007162.1 AK295498.1 AK314029.1 BC007008.1 BT006770.1 FJ876064.1 M24906.1 S45630.1

22 DOTS entries:

DT.92463634 DT.100814456 DT.97801394 DT.100814470 DT.40106207 DT.100814472 DT.92463643 DT.95273593

DT.100814457 DT.102843298 DT.120750595 DT.102843295 DT.120750585 DT.120750612 DT.120750625 DT.120750670

DT.75200098 DT.97852365 DT.100814465 DT.120750605 DT.95159595 DT.95273596

24/64 AceView cDNA sequences (see all 64):

BM696974 BM697134 BM697330 BM668179 BM662975 BM705928 CA398107 BM696956

BM705974 T51913 AA099868 BF726161 N70178 AA470069 AA196357 N98374

W46521 BE672641 H23749 BM686132 BM702557 BM697401 BU735552 H27592

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CRYAB About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	·	5c
SP1:			-				-
SP2:							-
SP3:
SP4:

ECgene alternative splicing isoforms for CRYAB

(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

CRYAB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTCATCTC

About this image

CRYAB expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Gut Tube

Foregut

Foregut Endoderm Cells

Endoderm

Bone

Head Mesenchyme

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18)

Name

Category

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Trophoblast-like cells (Generation of tropho...)

Extraembryonic endoderm-like cells (Generation of extrae...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

See CRYAB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRYAB

SOURCE GeneReport for Unigene cluster: Hs.53454

UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511

Tissue specificity: Lens as well as other tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including CRYAB (see all 7):

TGFB Signaling Targets in human mouse rat

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

Apoptosis 384HT in human mouse rat

Cellular Stress Responses in human mouse rat

Osmotic Stress in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CRYAB

(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 animals.

Orthologs for CRYAB gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CRYAB¹	crystallin, alpha B	74.14(n) 77.01(a)		396089 NM_205176.1 NP_990507.1
lizard (Anolis carolinensis)	Reptilia	CRYAB⁶	--	81(a)	1 ↔ 1	GL343521.1(32522-33000)
African clawed frog (Xenopus laevis)	Amphibia	Xl.7573²	Xenopus laevis transcribed sequence with strong similarity more	91.26(n)		AW645701.1
zebrafish (Danio rerio)	Actinopterygii	cryaba¹	crystallin, alpha B, a	65.04(n) 63.41(a)		30393 NM_131157.1 NP_571232.1
fruit fly (Drosophila melanogaster)	Insecta	l(2)efl¹	lethal (2) essential for life	56.55(n) 48.28(a)		37744 NM_079103.2 NP_523827.1

ENSEMBL Gene Tree for CRYAB (if available)
TreeFam Gene Tree for CRYAB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CRYAB gene

CRYAA² HSPB1² HSPB2-C11orf52² HSPB8² HSPB2² HSPB6² HSPB3²

6 SIMAP similar genes for CRYAB using alignment to 9 protein entries: CRYAB_HUMAN (see all proteins):

CRYAA HSPB2 HSPB6 HSPB3 HSPB1 HSPB8

CRYAB for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894202^1,2	C	pathogenic	111779565(-)	`GGAAAC/TAGGTC`	4	Q *	stg¹		0	--	--	--	--
rs104894201^1,2	C	pathogenic	111779658(-)	`TCCACA/GGGAAA`	4	R G	mis¹		0	--	--	--	--
rs111893989^1,2		--	111778885(+)	`AAGGCA/CATGCT`	1	--	ds500¹		2		CSA WA	120
rs184867958^1,2		--	111778960(+)	`TTAGAC/GATGCA`	1	--	ds500¹		0	--	--	--	--
rs189275788^1,2		--	111778979(+)	`TTTTAC/TGTAGC`	1	--	ds500¹		0	--	--	--	--
rs180890418^1,2		--	111779232(+)	`TCAGTA/CATTCT`	1	--	ds500¹		0	--	--	--	--
rs148052026^1,2		--	111779334(+)	`TCAAAC/TACAAG`	1	--	ds500¹		0	--	--	--	--
rs112204677^1,2	C	--	111779352(+)	`TCTGTA/C/TGCTGA`	2	--	ut3¹		1		CSA	1
rs186242388^1,2	C	--	111779529(+)	`TTCACA/GGGTGA`	2	R C	mis¹		0	--	--	--	--
rs141638421^1,2	C,F	--	111779546(+)	`TGGTGC/TGCTCA`	2	H R	mis¹		2		NA EU	5875

HapMap Linkage Disequilibrium report for CRYAB (111779289 - 111794446 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CRYAB: --
Human Gene Mutation Database (HGMD): CRYAB

Locus Specific Mutation Databases (LSDB): CRYAB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRYAB

DNA2.0 Custom Variant and Variant Library Synthesis for CRYAB

(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

CRYAB for disorders           About GeneDecksing

OMIM gene information: 123590
OMIM disorders: 608810
UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511

Defects in CRYAB are the cause of myopathy myofibrillar type 2 (MFM2) [MIM:608810]. A neuromuscular disorder

that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles,

hypetrophic cardiomyopathy, and cataract in a subset of patients

Defects in CRYAB are the cause of cataract posterior polar type 2 (CTPP2) [MIM:613763]. A subcapsular opacity,

usually disk-shaped, located at the back of the lens. It can have a marked effect on visual acuity

Defects in CRYAB are the cause of myopathy myofibrillar fatal infantile hypertonic alpha-B crystallin-related

(MFMFIH-CRYAB) [MIM:613869]. MFMFIH-CRYAB is a muscular dystrophy with onset in the first weeks of life after a normal

neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with

increasing respiratory difficulty resulting in death before age 3 years

20/66 diseases for CRYAB (see all 66): About MalaCards

myopathy, cardioskeletal, desmin-related, with cataract ossification of posterior longitudinal ligament of spine myopathy neurologic diseases

renal carcinoma posterior polar cataract guillain-barre syndrome inclusion body myositis

amyotrophic lateral sclerosis frontotemporal dementia cataract carcinoma

multiple system atrophy alexander disease lateral sclerosis myofibrillar myopathy

dilated cardiomyopathy congenital cataracts neuromuscular disease intracranial cysts

3 diseases from the University of Copenhagen DISEASES database for CRYAB:

Alexander disease Myopathy Multiple sclerosis

10/55 Novoseek disease relationships for CRYAB gene (see all 55) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alexanders disease	85.2	18	1407707 (3), 8393618 (2), 1743282 (2), 1656764 (2) (see all 10)
desmin-related myopathy	79.7	5	11412718 (1), 15572040 (1), 12861387 (1), 16483541 (1)
shock	72.1	89	8743950 (4), 8435441 (3), 12646227 (3), 7896758 (2) (see all 49)
congenital cataract	68.8	6	16877416 (2), 9124809 (1), 12601044 (1), 20171888 (1) (see all 5)
myopathy	60.1	7	19181099 (1), 19050726 (1), 17888590 (1), 14681890 (1) (see all 6)
cataract	53.3	16	16877416 (3), 19461931 (2), 11577372 (2), 9650087 (1) (see all 10)
neuroectodermal tumors	53	5	1655207 (2), 9142199 (1)
picks disease	50.6	5	1382240 (3), 18091558 (1), 7575218 (1)
astrocytoma subependymal giant cell	50.2	1	8162151 (1)
gliosis	49.4	6	8171966 (2), 10439447 (2), 18091558 (1), 16750834 (1)

GeneTests: CRYAB

Myofibrillar Myopathy

Genetic Association Database (GAD): CRYAB
Human Genome Epidemiology (HuGE) Navigator: CRYAB (6 documents)

Export disorders for CRYAB gene to outside databases

(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 CRYAB gene, integrated from 9 sources (see all 406):
(articles sorted by number of sources associating them with CRYAB)

Utopia: connect your pdf to the dynamic
world of online information

Simultaneous racemization and isomerization at specific aspartic acid residues in alpha B-crystallin from the aged human lens. (PubMed id 8142454)^{1, 2, 9} Fujii N.... Harada K. (1994)
Copurification of small heat shock protein with alpha B crystallin from human skeletal muscle. (PubMed id 1560006)^{1, 2, 9} Kato K.... Asano T. (1992)
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (PubMed id 11577372)^{1, 2, 9} Berry V....Quinlan R.A. (2001)
Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. (PubMed id 1407707)^{1, 2, 9} Iwaki A.... Sakaki Y. (1992)
Alteration of protein-protein interactions of congenital cataract crystallin mutants. (PubMed id 12601044)^{1, 2, 9} Fu L. and Liang J.J.-N. (2003)
Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (PubMed id 14681890)^{1, 2, 9} Selcen D. and Engel A.G. (2003)
HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)^{1, 2} Vos M.J....Kampinga H.H. (2009)
Crystal structures of alpha-crystallin domain dimers of alphaB- crystallin and Hsp20. (PubMed id 19646995)^{1, 2} Bagneris C.... Slingsby C. (2009)
Association of the chaperone alphaB-crystallin with titin in heart muscle. (PubMed id 14676215)^{1, 2} Bullard B.... Linke W.A. (2004)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1410	HGNC: 2389	AceView: CRYAB	Ensembl:ENSG00000109846	euGenes: HUgn1410
ECgene: CRYAB	Kegg: 1410	H-InvDB: CRYAB

(According to HUGE)
About This Section

(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 CRYAB	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CRYAB	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRYAB

Intellectual Property for CRYAB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CRYAB gene:
Search GeneIP for patents involving CRYAB

GeneCards and IP:
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CRYAB Gene

crystallin, alpha B

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