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Ano5 Gene Detail
Summary
  • Symbol
    Ano5
  • Name
    anoctamin 5
  • Synonyms
    Gdd1, Tmem16e
  • Feature Type
    protein coding gene
  • IDs
    MGI:3576659
    NCBI Gene: 233246
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:51511029-51598709 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 32.76 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    763 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3576659
protein coding gene Chr7:51510017-51598709 (.)
129S1/SvImJ MGP_129S1SvImJ_G0032304
protein coding gene Chr7:52242215-52346356 (+)
A/J MGP_AJ_G0032283
protein coding gene Chr7:51430817-51529995 (+)
AKR/J MGP_AKRJ_G0032219
protein coding gene Chr7:52644823-52735323 (+)
BALB/cJ MGP_BALBcJ_G0032295
protein coding gene Chr7:51085979-51178622 (+)
C3H/HeJ MGP_C3HHeJ_G0032008
protein coding gene Chr7:53061418-53152171 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032788
protein coding gene Chr7:54612203-54707919 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029794
protein coding gene Chr7:54474534-54562938 (+)
CAST/EiJ MGP_CASTEiJ_G0031336
protein coding gene Chr7:44361882-44456825 (+)
CBA/J MGP_CBAJ_G0031973
protein coding gene Chr7:56462287-56573857 (+)
DBA/2J MGP_DBA2J_G0032130
protein coding gene Chr7:50616460-50709761 (+)
FVB/NJ MGP_FVBNJ_G0032084
protein coding gene Chr7:50537557-50630782 (+)
LP/J MGP_LPJ_G0032211
protein coding gene Chr7:53208829-53303788 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032121
protein coding gene Chr7:55556830-55659192 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032805
protein coding gene Chr7:51619546-51710632 (+)
PWK/PhJ MGP_PWKPhJ_G0031056
protein coding gene Chr7:43923519-44011950 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030897
protein coding gene Chr7:39803064-39893267 (+)
WSB/EiJ MGP_WSBEiJ_G0031454
protein coding gene Chr7:52319626-52407385 (+)



Homology
more
  • Human Ortholog
    ANO5, anoctamin 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ANO5, anoctamin 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GDD1, LGMD2L, LGMDR12, TMEM16E
  • Links
    NCBI Gene ID: 203859
    neXtProt AC: NX_Q75V66
    UniProt: Q75V66

  • Chr Location
    11p14.3; chr11:22192485-22283367 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 100071
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ANO5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ano5 mouse models; 1 with human ANO5 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 1 genetic background
    6 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055489 Ensembl Gene Model | MGI Sequence Detail 87681 C57BL/6J ±  kb
    transcript ENSMUST00000043944 Ensembl | MGI Sequence Detail 7785 Not Applicable  
    polypeptide ENSMUSP00000046884 Ensembl | MGI Sequence Detail 904 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 6
      Primer pair 2
      Other 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 5
      Phenotypes 6
    • Earliest
      J:97748 Tsutsumi S, et al., The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61
    • Latest
      J:235810 Griffin DA, et al., Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy. Hum Mol Genet. 2016 May 15;25(10):1900-1911

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory