Human Gene ANO5 (ENST00000324559.9) from GENCODE V44
  Description: Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA. (from RefSeq NM_213599)
RefSeq Summary (NM_213599): 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].
Gencode Transcript: ENST00000324559.9
Gencode Gene: ENSG00000171714.13
Transcript (Including UTRs)
   Position: hg38 chr11:22,193,085-22,283,357 Size: 90,273 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg38 chr11:22,193,493-22,279,765 Size: 86,273 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:22,193,085-22,283,357)mRNA (may differ from genome)Protein (913 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANO5_HUMAN
DESCRIPTION: RecName: Full=Anoctamin-5; AltName: Full=Gnathodiaphyseal dysplasia 1 protein; AltName: Full=Transmembrane protein 16E;
FUNCTION: May act as a calcium-activated chloride channel.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Co-localized with CALR/calreticulin.
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.
DISEASE: Defects in ANO5 are the cause of gnathodiaphyseal dysplasia (GDD) [MIM:166260]; also known as osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a 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.
DISEASE: Defects in ANO5 are the cause of limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307]. It is 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.
DISEASE: Defects in ANO5 are the cause of miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319]. It is 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.
SIMILARITY: Belongs to the anoctamin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ANO5
Diseases sorted by gene-association score: gnathodiaphyseal dysplasia* (1712), miyoshi muscular dystrophy 3* (1680), muscular dystrophy, limb-girdle, type 2l* (1669), osteogenesis imperfecta levin type* (400), ano5-related muscle diseases* (200), anterior compartment syndrome (16), distal muscular dystrophy (10), muscular dystrophy (9), autosomal recessive limb-girdle muscular dystrophy (9), muscle tissue disease (5), osteomyelitis (5), muscular dystrophy, limb-girdle, type 2a (4), muscular dystrophy, rigid spine, 1 (4), myopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.71 RPKM in Muscle - Skeletal
Total median expression: 95.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -169.90408-0.416 Picture PostScript Text
3' UTR -840.503592-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007632 - Anoctamin

Pfam Domains:
PF04547 - Calcium-activated chloride channel

ModBase Predicted Comparative 3D Structure on Q75V66
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005229 intracellular calcium activated chloride channel activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0006821 chloride transport
GO:0034220 ion transmembrane transport

Cellular Component:
GO:0005622 intracellular
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  AL832374 - Homo sapiens mRNA; cDNA DKFZp451F027 (from clone DKFZp451F027).
AL833271 - Homo sapiens mRNA; cDNA DKFZp451A148 (from clone DKFZp451A148).
AK125046 - Homo sapiens cDNA FLJ43056 fis, clone BRTHA3007148.
KJ901444 - Synthetic construct Homo sapiens clone ccsbBroadEn_10838 GAS2 gene, encodes complete protein.
AK092680 - Homo sapiens cDNA FLJ35361 fis, clone SKMUS2000020.
AB125267 - Homo sapiens GDD1 mRNA for integral membrane protein GDD1, complete cds.
JD443942 - Sequence 424966 from Patent EP1572962.
JD421824 - Sequence 402848 from Patent EP1572962.
JD406154 - Sequence 387178 from Patent EP1572962.
JD496766 - Sequence 477790 from Patent EP1572962.
JD541163 - Sequence 522187 from Patent EP1572962.
JD079782 - Sequence 60806 from Patent EP1572962.
JD226817 - Sequence 207841 from Patent EP1572962.
JD453022 - Sequence 434046 from Patent EP1572962.
JD115154 - Sequence 96178 from Patent EP1572962.
JD098720 - Sequence 79744 from Patent EP1572962.
JD098721 - Sequence 79745 from Patent EP1572962.
JD400164 - Sequence 381188 from Patent EP1572962.
BC156325 - Synthetic construct Homo sapiens clone IMAGE:100061756, MGC:190092 anoctamin 5 (ANO5) mRNA, encodes complete protein.
BC172489 - Synthetic construct Homo sapiens clone IMAGE:100069183, MGC:199194 anoctamin 5 (ANO5) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q75V66 (Reactome details) participates in the following event(s):

R-HSA-2684901 ANOs transport cytosolic Cl- to extracellular region
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ANO5_HUMAN, ENST00000324559.1, ENST00000324559.2, ENST00000324559.3, ENST00000324559.4, ENST00000324559.5, ENST00000324559.6, ENST00000324559.7, ENST00000324559.8, GDD1, NM_213599, Q75V66, TMEM16E, uc001mqi.1, uc001mqi.2, uc001mqi.3, uc001mqi.4
UCSC ID: ENST00000324559.9
RefSeq Accession: NM_213599
Protein: Q75V66 (aka ANO5_HUMAN)
CCDS: CCDS31444.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANO5:
ano5-md (ANO5 Muscle Disease)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.