Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANO5 Gene

Aliases for ANO5 Gene

  • Anoctamin 5 2 3 5
  • Transmembrane Protein 16E 2 3 4
  • Gnathodiaphyseal Dysplasia 1 Protein 3 4
  • TMEM16E 3 4
  • GDD1 3 4
  • Limb Girdle Muscular Dystrophy 2L (Autosomal Recessive) 2
  • Integral Membrane Protein GDD1 3
  • LGMD2L 3

External Ids for ANO5 Gene

Previous HGNC Symbols for ANO5 Gene

  • TMEM16E
  • LGMD2L

Previous GeneCards Identifiers for ANO5 Gene

  • GC11P021897

Summaries for ANO5 Gene

Entrez Gene Summary for ANO5 Gene

  • This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

GeneCards Summary for ANO5 Gene

ANO5 (Anoctamin 5) is a Protein Coding gene. Diseases associated with ANO5 include Gnathodiaphyseal Dysplasia and Muscular Dystrophy, Limb-Girdle, Type 2L. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO4.

UniProtKB/Swiss-Prot for ANO5 Gene

  • Does not exhibit calcium-activated chloride channel (CaCC) activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO5 Gene

Genomics for ANO5 Gene

Regulatory Elements for ANO5 Gene

Enhancers for ANO5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANO5 on UCSC Golden Path with GeneCards custom track

Promoters for ANO5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANO5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANO5 Gene

Chromosome:
11
Start:
22,192,513 bp from pter
End:
22,283,367 bp from pter
Size:
90,855 bases
Orientation:
Plus strand

Genomic View for ANO5 Gene

Genes around ANO5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO5 Gene

Proteins for ANO5 Gene

  • Protein details for ANO5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q75V66-ANO5_HUMAN
    Recommended name:
    Anoctamin-5
    Protein Accession:
    Q75V66

    Protein attributes for ANO5 Gene

    Size:
    913 amino acids
    Molecular mass:
    107188 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The term anoctamin was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

neXtProt entry for ANO5 Gene

Proteomics data for ANO5 Gene at MOPED

Post-translational modifications for ANO5 Gene

  • Glycosylation at Asn 335, Asn 366, Asn 380, Asn 768, Asn 778, and Asn 791
  • Modification sites at PhosphoSitePlus

Other Protein References for ANO5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANO5 Gene

Domains & Families for ANO5 Gene

Gene Families for ANO5 Gene

Protein Domains for ANO5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q75V66

UniProtKB/Swiss-Prot:

ANO5_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO5: view

Function for ANO5 Gene

Molecular function for ANO5 Gene

UniProtKB/Swiss-Prot Function:
Does not exhibit calcium-activated chloride channel (CaCC) activity.

Phenotypes for ANO5 Gene

GenomeRNAi human phenotypes for ANO5:
genes like me logo Genes that share phenotypes with ANO5: view

Human Phenotype Ontology for ANO5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ANO5 Gene

miRTarBase miRNAs that target ANO5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ANO5 Gene

Localization for ANO5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO5 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Colocalized with CALR/calreticulin (PubMed:15124103). Shows an intracellular localization according to PubMed:22075693. {ECO:0000269 PubMed:15124103, ECO:0000269 PubMed:22075693}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANO5 Gene COMPARTMENTS Subcellular localization image for ANO5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
peroxisome 2
cytoskeleton 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ANO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with ANO5: view

Pathways & Interactions for ANO5 Gene

genes like me logo Genes that share pathways with ANO5: view

Pathways by source for ANO5 Gene

Interacting Proteins for ANO5 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000315371%0d%0a9606.ENSP00000275493%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000315371 Q75V66-ANO5_HUMAN for ANO5 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ANO5 Gene

None

No data available for SIGNOR curated interactions for ANO5 Gene

Drugs & Compounds for ANO5 Gene

(1) Drugs for ANO5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for ANO5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with ANO5: view

Transcripts for ANO5 Gene

Unigene Clusters for ANO5 Gene

Anoctamin 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANO5 Gene

No ASD Table

Relevant External Links for ANO5 Gene

GeneLoc Exon Structure for
ANO5
ECgene alternative splicing isoforms for
ANO5

Expression for ANO5 Gene

mRNA expression in normal human tissues for ANO5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANO5 Gene

This gene is overexpressed in Muscle - Skeletal (x10.9), Heart - Left Ventricle (x6.1), and Heart - Atrial Appendage (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO5 Gene



SOURCE GeneReport for Unigene cluster for ANO5 Gene Hs.154329

mRNA Expression by UniProt/SwissProt for ANO5 Gene

Q75V66-ANO5_HUMAN
Tissue specificity: Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.
genes like me logo Genes that share expression patterns with ANO5: view

Protein tissue co-expression partners for ANO5 Gene

Primer Products

No data available for Protein differential expression in normal tissues for ANO5 Gene

Orthologs for ANO5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANO5 35
  • 85.8 (n)
  • 82.77 (a)
ANO5 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANO5 35
  • 88.83 (n)
  • 88.45 (a)
ANO5 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ano5 35
  • 80.12 (n)
  • 81.37 (a)
Ano5 16
Ano5 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANO5 35
  • 97.09 (n)
  • 96.34 (a)
ANO5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ano5 35
  • 80.6 (n)
  • 81.41 (a)
oppossum
(Monodelphis domestica)
Mammalia ANO5 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANO5 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO5 35
  • 70.37 (n)
  • 69.87 (a)
ANO5 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO5 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano5 35
  • 67.07 (n)
  • 66.83 (a)
Str.11223 35
zebrafish
(Danio rerio)
Actinopterygii ano5b 35
  • 63.63 (n)
  • 62.68 (a)
ano5a 36
  • 58 (a)
OneToMany
ano5b 36
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010474 35
  • 51.6 (n)
  • 44.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6938 35
  • 51 (n)
  • 43.59 (a)
CG6938 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for ANO5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO5 Gene

ENSEMBL:
Gene Tree for ANO5 (if available)
TreeFam:
Gene Tree for ANO5 (if available)

Paralogs for ANO5 Gene

Paralogs for ANO5 Gene

(7) SIMAP similar genes for ANO5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ANO5: view

Variants for ANO5 Gene

Sequence variations from dbSNP and Humsavar for ANO5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_023524 Gnathodiaphyseal dysplasia (GDD)
VAR_023525 Gnathodiaphyseal dysplasia (GDD)
rs7481951 - 22,250,324(+) GGCTT(A/C/G/T)GCTTG reference, missense
rs34969327 - 22,279,669(-) AATTT(C/G)TTGAG reference, missense
rs137854523 Limb-girdle muscular dystrophy 2L (LGMD2L) 22,236,206(+) AGATG(G/T)GAAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ANO5 Gene

Variant ID Type Subtype PubMed ID
nsv897049 CNV Loss 21882294
nsv7706 CNV Insertion 18451855
esv271342 CNV Insertion 20981092
esv2668665 CNV Deletion 23128226
nsv897052 CNV Gain 21882294
esv1653914 CNV Insertion 17803354
esv1534919 CNV Insertion 17803354
esv2744213 CNV Deletion 23290073
esv2214569 CNV Deletion 18987734
esv2744214 CNV Deletion 23290073
esv2744215 CNV Deletion 23290073
esv1750598 CNV Deletion 17803354
esv2247932 CNV Deletion 18987734
esv2678239 CNV Deletion 23128226

Variation tolerance for ANO5 Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANO5 Gene

Human Gene Mutation Database (HGMD)
ANO5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO5 Gene

Disorders for ANO5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ANO5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gnathodiaphyseal dysplasia
  • levin syndrome 2
muscular dystrophy, limb-girdle, type 2l
  • limb-girdle muscular dystrophy type 2l
miyoshi muscular dystrophy 3
  • mmd3
distal anoctaminopathy
  • mmd3
ano5-related muscle diseases
  • anoctaminopathy
- elite association - COSMIC cancer census association via MalaCards
Search ANO5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANO5_HUMAN
  • Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269 PubMed:15124103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269 PubMed:20096397}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269 PubMed:20096397, ECO:0000269 PubMed:22499103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANO5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANO5
genes like me logo Genes that share disorders with ANO5: view

No data available for Genatlas for ANO5 Gene

Publications for ANO5 Gene

  1. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 23 67
  2. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. (PMID: 20096397) Bolduc V. … Brais B. (Am. J. Hum. Genet. 2010) 2 3 23
  3. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N. … Galietta L.J. (Physiol. Rev. 2014) 2 3
  4. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). (PMID: 15124103) Tsutsumi S. … Itakura M. (Am. J. Hum. Genet. 2004) 3 23
  5. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. (PMID: 25891276) Savarese M. … Nigro V. (Neuromuscul. Disord. 2015) 3

Products for ANO5 Gene

Sources for ANO5 Gene

Content