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ANO5 Gene(Protein Coding)

Anoctamin 5

GCID:
GC11P022172
GIFtS:
54
Genes Participants
UDN Logo

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
  • Anoctamin-5 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 Miyoshi Muscular Dystrophy 3. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO6.

UniProtKB/Swiss-Prot for ANO5 Gene

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

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

Genomics for ANO5 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ANO5 Gene

Enhancers for ANO5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G022192 0.9 ENCODE 37.2 +0.8 775 2.0 SIN3A YY1 GLIS2 ZNF263 SP3 REST ZNF610 ZSCAN16 GLIS1 NBN ANO5 GC11P022257
GH11G022338 0.7 ENCODE dbSUPER 10.2 +146.1 146139 0.6 POLR2A TEAD4 ANO5 ENSG00000254768 ENSG00000254540
GH11G022077 0.5 ENCODE 6 -113.3 -113320 3.6 POLR2A SCRT2 ZNF175 CREB1 ATF2 ANO5 ENSG00000254820 LOC105376587
GH11G022357 0.3 FANTOM5 1.2 +165.6 165613 0.3 SLC17A6 ANO5 ENSG00000254540 ENSG00000254768
GH11G022162 0.8 Ensembl ENCODE 0.3 -29.2 -29177 1.1 HLF MYC TBX21 SPI1 ANO5 ENSG00000254820
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000037885 688 2000 YY1 GLIS2 ZNF263 SP3 REST ZNF610 ZSCAN16 GLIS1 NBN KDM1A

Transcription factor binding sites by QIAGEN in the ANO5 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ANO5 Gene

Proteins for ANO5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ANO5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ANO5 Gene

  • Glycosylation at posLast=335335, Asn366, posLast=380380, Asn768, Asn778, and Asn791
  • 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

HGNC:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ANO5 Gene

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

Gene Ontology (GO) - Molecular Function for ANO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ANO5: view

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

CRISPR Products

miRNA for ANO5 Gene

miRTarBase miRNAs that target ANO5

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ANO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22075693
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 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 1 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.ENSP00000406318%0d%0a
Selected Interacting proteins: Q75V66-ANO5_HUMAN ENSP00000315371 for ANO5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ANO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IDA 22946059
GO:0034220 ion transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with ANO5: view

No data available for SIGNOR curated interactions for ANO5 Gene

Drugs & Compounds for ANO5 Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ANO5 Gene

(6) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(52) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANO5 Gene

Anoctamin 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANO5 Gene

mRNA expression in normal human tissues for ANO5 Gene
mRNA expression by BioGPS for ANO5 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for ANO5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANO5 Gene:

ANO5

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.

Evidence on tissue expression from TISSUES for ANO5 Gene

  • Muscle(4.7)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • bone marrow
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANO5: view

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
chimpanzee
(Pan troglodytes)
 Mammalia ANO5 34 35
  • 97.09 (n)
dog
(Canis familiaris)
 Mammalia ANO5 34 35
  • 88.83 (n)
cow
(Bos Taurus)
 Mammalia ANO5 34 35
  • 85.8 (n)
rat
(Rattus norvegicus)
 Mammalia Ano5 34
  • 80.6 (n)
mouse
(Mus musculus)
 Mammalia Ano5 34 16 35
  • 80.12 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ANO5 35
  • 69 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ANO5 35
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ANO5 34 35
  • 70.37 (n)
lizard
(Anolis carolinensis)
 Reptilia ANO5 35
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ano5 34
  • 67.07 (n)
Str.11223 34
zebrafish
(Danio rerio)
 Actinopterygii ano5b 34 35
  • 63.63 (n)
ano5a 35
  • 58 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010474 34
  • 51.6 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG6938 34 35
  • 51 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 43 (a)
 OneToMany
Species where no ortholog for ANO5 was found in the sources mined by GeneCards:
  • 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
rs119103234 Pathogenic, Gnathodiaphyseal dysplasia (GDD) [MIM:166260], Gnathodiaphyseal dysplasia (GDD) [MIM:166260] 22,250,793(+) CACTC(C/G/T)GTGAT reference, missense
rs137854523 Pathogenic, Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307] 22,236,206(+) AGATG(G/T)GAAGA reference, missense
rs137854529 Pathogenic, Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] 22,274,605(+) TTCCC(C/T)GTCTA reference, missense
rs281865467 Uncertain significance, Gnathodiaphyseal dysplasia (GDD) [MIM:166260] 22,259,649(+) GATAA(C/T)CACAT reference, missense
rs760137559 Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] 22,270,378(+) CGATG(C/G)GAGCA reference, missense

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

Variant ID Type Subtype PubMed ID
esv1534919 CNV insertion 17803354
esv1653914 CNV insertion 17803354
esv1750598 CNV deletion 17803354
esv2214569 CNV deletion 18987734
esv2247932 CNV deletion 18987734
esv2668665 CNV deletion 23128226
esv2678239 CNV deletion 23128226
esv2744213 CNV deletion 23290073
esv2744214 CNV deletion 23290073
esv2744215 CNV deletion 23290073
esv3307066 CNV mobile element insertion 20981092
esv3426729 CNV insertion 20981092
esv3579428 CNV loss 25503493
esv3625612 CNV loss 21293372
esv3625613 CNV loss 21293372
nsv1038630 CNV loss 25217958
nsv1041233 CNV gain 25217958
nsv1054629 CNV gain 25217958
nsv7706 CNV insertion 18451855
nsv957376 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • gdd, osteogenesis imperfecta with unusual skeletal lesions
miyoshi muscular dystrophy 3
  • mmd3
muscular dystrophy, limb-girdle, type 2l
  • autosomal recessive limb-girdle muscular dystrophy type 2l
ano5-related muscle diseases
  • anoctaminopathy
anterior compartment syndrome
- 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, ECO:0000269 PubMed:23047743, ECO:0000269 PubMed:27216912}. 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. 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 4 22 64
  2. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 22 64
  3. 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 4 22 64
  4. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N. … Galietta L.J. (Physiol. Rev. 2014) 2 3 64
  5. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. (PMID: 23047743) Marconi C. … Seri M. (Eur. J. Hum. Genet. 2013) 3 4 64

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