About   Help   FAQ
Ano5 Gene Detail
Summary
  • Symbol
    Ano5
  • Name
    anoctamin 5
  • Synonyms
    Gdd1, Tmem16e
  • Feature Type
    protein coding gene
  • IDs
    MGI:3576659
    NCBI Gene: 233246
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:51160777-51248457 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 32.76 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2994 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 Chr7:51160668-51248459 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANO5, anoctamin 5
  • Synonyms
    GDD1, LGMD2L, LGMDR12, TMEM16E
  • Links
    NCBI Gene ID: 203859
    neXtProt AC: NX_Q75V66
    UniProt: Q75V66

  • Chr Location
    11p14.3; chr11:21782659-22283567 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ano5 mouse models; 4 with human ANO5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 4 alleles in 3 genetic backgrounds
    15 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.
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
    16
  • GO References
    8
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
    759
  • Tissues
    37
  • cDNA Data
    6
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 43
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 8
      Phenotypes 15
    • 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:336261 Li H, et al., Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5(Cys360Tyr) knock-in mouse model. Front Endocrinol (Lausanne). 2023;14:1117111
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory