Ano5 anoctamin 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ano5provided by MGI
Official Full Name: anoctamin 5provided by MGI
Primary source: MGI:MGI:3576659
See related: Ensembl:ENSMUSG00000055489 AllianceGenome:MGI:3576659
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gdd1; Tmem16e; 9330162L24
Summary: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 7 B4; 7 32.76 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (51160668..51248459)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (51510007..51598707)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM16E regulates endothelial cell procoagulant activity and thrombosis.
Title: TMEM16E regulates endothelial cell procoagulant activity and thrombosis.
Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.
Title: Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.
Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5(-/-) mice.
Title: Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5(-/-) mice.
ANO5 ensures trafficking of annexins in wounded myofibers.
Title: ANO5 ensures trafficking of annexins in wounded myofibers.
Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha.
Title: Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα.
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
Title: Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
Ano5 is involved in bone remodeling through regulating the function of osteoclasts rather than that of osteoblasts.
Title: Role of anoctamin 5, a gene associated with gnathodiaphyseal dysplasia, in osteoblast and osteoclast differentiation.
ANO5-mediated phospholipid scrambling or ionic currents play an important role in muscle repair.
Title: Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion.
Here we show that Ano5-deficient mice have reduced capacity to repair the sarcolemma following laser-induced damage, exhibit delayed regeneration after cardiotoxin injury and suffer from defective myoblast fusion necessary for the proper repair and regeneration of multinucleated myotubes. these data suggest that ANO5 plays an important role in sarcolemmal membrane dynamics.
Title: Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
TMEM16E(-/-) sperm showed no apparent defect in morphology, beating, mitochondrial function, capacitation, or binding to zona pellucida. However, they showed reduced motility and inefficient fertilization of cumulus-free but zona-intact eggs in vitro.
Title: A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (5) 1 citation

General gene information

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Markers

D7Dcr23 (e-PCR), detects polymorphism
- UniSTS:507780

D7Mit119 (e-PCR), detects polymorphism
- UniSTS:131018

D7Mit82 (e-PCR), detects polymorphism
- UniSTS:116717

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables intracellularly calcium-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables phospholipid scramblase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: anoctamin-5

Names: gnathodiaphyseal dysplasia 1 protein homolog; integral membrane protein GDD1; transmembrane protein 16E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001271879.2 → NP_001258808.1 anoctamin-5 isoform 2

See identical proteins and their annotated locations for NP_001258808.1

Status: REVIEWED

Source sequence(s)

AC113306

Consensus CDS

CCDS85311.1

UniProtKB/Swiss-Prot

Q75UR0

Related

ENSMUSP00000146783.2, ENSMUST00000207717.2

Conserved Domains (2) summary

pfam04547
Location:269 → 810

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:50 → 265

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001420399.1 → NP_001407328.1 anoctamin-5 isoform 3

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420400.1 → NP_001407329.1 anoctamin-5 isoform 4

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420401.1 → NP_001407330.1 anoctamin-5 isoform 5

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420402.1 → NP_001407331.1 anoctamin-5 isoform 6

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420403.1 → NP_001407332.1 anoctamin-5 isoform 7

Status: REVIEWED

Source sequence(s)

AC113306

Related

ENSMUSP00000147243.2, ENSMUST00000207044.2
NM_001420404.1 → NP_001407333.1 anoctamin-5 isoform 8

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420405.1 → NP_001407334.1 anoctamin-5 isoform 9

Status: REVIEWED

Source sequence(s)

AC113306
NM_001420406.1 → NP_001407335.1 anoctamin-5 isoform 10

Status: REVIEWED

Source sequence(s)

AC113306
NM_177694.7 → NP_808362.2 anoctamin-5 isoform 1

See identical proteins and their annotated locations for NP_808362.2

Status: REVIEWED

Source sequence(s)

AC113306

Consensus CDS

CCDS39968.1

UniProtKB/Swiss-Prot

Q2VPA8, Q3V657, Q75UR0, Q8CC04

Related

ENSMUSP00000046884.6, ENSMUST00000043944.6

Conserved Domains (2) summary

pfam04547
Location:283 → 860

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:64 → 279

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

RNA

NR_073508.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the same translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC113306, AK034197

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

51160668..51248459

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540822.5 → XP_006540885.4 anoctamin-5 isoform X1

Conserved Domains (2) summary

pfam04547
Location:367 → 943

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:148 → 363

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_030242467.2 → XP_030098327.2 anoctamin-5 isoform X5

Conserved Domains (2) summary

pfam04547
Location:344 → 884

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:148 → 340

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin