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Cryab Gene Detail
Summary
  • Symbol
    Cryab
  • Name
    crystallin, alpha B
  • Synonyms
    alpha B-crystallin, Crya-2, Crya2, HspB5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88516
    NCBI Gene: 12955
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:50662625-50667936 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 27.75 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    222 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88516
 protein coding gene Chr9:50657251-50667936 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034789
 protein coding gene Chr9:49652484-49656378 (+)
A/J MGP_AJ_G0034770
 protein coding gene Chr9:48139981-48143870 (+)
AKR/J MGP_AKRJ_G0034698
 protein coding gene Chr9:49150266-49154141 (+)
BALB/cJ MGP_BALBcJ_G0034762
 protein coding gene Chr9:47864806-47868695 (+)
C3H/HeJ MGP_C3HHeJ_G0034472
 protein coding gene Chr9:49639683-49643572 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035282
 protein coding gene Chr9:51035642-51039517 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032195
 protein coding gene Chr9:47600733-47604642 (+)
CAST/EiJ MGP_CASTEiJ_G0033794
 protein coding gene Chr9:49586966-49590867 (+)
CBA/J MGP_CBAJ_G0034444
 protein coding gene Chr9:52843618-52847513 (+)
DBA/2J MGP_DBA2J_G0034603
 protein coding gene Chr9:47998813-48002702 (+)
FVB/NJ MGP_FVBNJ_G0034544
 protein coding gene Chr9:47214346-47218221 (+)
LP/J MGP_LPJ_G0034684
 protein coding gene Chr9:50010179-50014073 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034587
 protein coding gene Chr9:54442178-54446067 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035303
 protein coding gene Chr9:49130742-49134631 (+)
PWK/PhJ MGP_PWKPhJ_G0033499
 protein coding gene Chr9:47976552-47980516 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033334
 protein coding gene Chr9:49435253-49439157 (+)
WSB/EiJ MGP_WSBEiJ_G0033907
 protein coding gene Chr9:49135762-49139637 (+)



Homology
more
  • Human Ortholog
    CRYAB, crystallin alpha B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CRYAB, crystallin alpha B
  • Synonyms
    CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2
  • Links
    NCBI Gene ID: 1410
    neXtProt AC: NX_P02511
    UniProt: P02511

  • Chr Location
    11q23.1; chr11:111908564-111923740 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cryab mouse models; 4 with human CRYAB associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 4 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    79 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.
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. Homozygosity for the p.R123W mutation leads to hypertrophic cardiomyopathy after trans-aortic constriction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    90
  • GO References
    21
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    955
  • Tissues
    122
  • cDNA Data
    187
  • Literature Summary
    61
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032060 Ensembl Gene Model | MGI Sequence Detail 5312 C57BL/6J ±  kb
    transcript ENSMUST00000034562 Ensembl | MGI Sequence Detail 946 Not Applicable  
    polypeptide ENSMUSP00000034562 Ensembl | MGI Sequence Detail 175 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 199
      Genomic 1
      cDNA 188
      Primer pair 6
      Other 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-2161, MGD-MRK-2163
    References
    more
    • Summaries
      All 216
      Developmental Gene Expression 61
      Diseases 4
      Gene Ontology 21
      Phenotypes 79
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory