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Cryab Gene Detail
Summary
  • Symbol
    Cryab
  • Name
    crystallin, alpha B
  • Synonyms
    alpha B-crystallin, Crya2, Crya-2, HspB5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88516
    NCBI Gene: 12955
  • Gene Overview
    MyGene.info: CRYAB
Location & Maps
more
  • Sequence Map
    Chr9:50752758-50756633 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3876 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 27.75 cM
  • Mapping Data
    5 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    CRYAB, crystallin alpha B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CRYAB, crystallin alpha B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2
  • Links
    NCBI Gene ID: 1410
    neXtProt AC: NX_P02511

  • Chr Location
    11q23.1; chr11:111908620-111913213 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Cryab mouse models; 4 with human CRYAB associations

Human Disease Mouse Models
       Cataract 16, Multiple Types; CTRCT16   OMIM: 613763 View 1 model
Myopathy, Myofibrillar, 2; MFM2   OMIM: 608810 View 2 models
       Cardiomyopathy, Dilated, 1ii; CMD1II   OMIM: 615184
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related   OMIM: 613869
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    2 images
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    2
  • Targeted
    4
  • Transgenic
    3
  • Genomic Mutations
    1 involving Cryab
  • Incidental Mutations
    APF
Mice homozygous or heterozygous for a knock-in allele exhibit decreased grip strength and develop cataracts and myopathy; some mice display unilateral corneal abnormalities and small eyes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032060 Ensembl Gene Model | MGI Sequence Detail 3876 C57BL/6J ±  kb
transcript ENSMUST00000034562 Ensembl | MGI Sequence Detail 1185 Not Applicable  
polypeptide ENSMUSP00000034562 Ensembl | MGI Sequence Detail 175 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    88 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 194
    Genomic 1
    cDNA 186
    Primer pair 4
    Other 3

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-2161, MGD-MRK-2163
References
more
  • Summaries
    All 118
    Developmental Gene Expression 42
    Diseases 3
    Gene Ontology 15
    Phenotypes 51
  • Earliest
    J:19955 Quax-Jeuken Y, et al., Complete structure of the alpha B-crystallin gene: conservation of the exon-intron distribution in the two nonlinked alpha-crystallin genes. Proc Natl Acad Sci U S A. 1985 Sep;82(17):5819-23
  • Latest
    J:226606 Makley LN, et al., Pharmacological chaperone for alpha-crystallin partially restores transparency in cataract models. Science. 2015 Nov 6;350(6261):674-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory