Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ANO5 (anoctamin 5) Homo sapiens
Analyze
Symbol: ANO5
Name: anoctamin 5
Description: Exhibits intracellular calcium activated chloride channel activity. Involved in chloride transport. Localizes to plasma membrane. Implicated in Miyoshi muscular dystrophy 3; autosomal recessive limb-girdle muscular dystrophy type 2L; gnathodiaphyseal dysplasia; and isolated elevated serum creatine phosphokinase levels.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anoctamin-5; GDD1; gnathodiaphyseal dysplasia 1 protein; integral membrane protein GDD1; LGMD2L; LGMDR12; limb girdle muscular dystrophy 2L (autosomal recessive); TMEM16E; transmembrane protein 16E
Orthologs:
Mus musculus (house mouse) : Ano5 (anoctamin 5)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ano5 (anoctamin 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ano5 (anoctamin 5)
Pan paniscus (bonobo/pygmy chimpanzee) : ANO5 (anoctamin 5)
Canis lupus familiaris (dog) : ANO5 (anoctamin 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ano5 (anoctamin 5)
Sus scrofa (pig) : ANO5 (anoctamin 5)
Chlorocebus sabaeus (African green monkey) : ANO5 (anoctamin 5)
Heterocephalus glaber (naked mole-rat) : Ano5 (anoctamin 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1121,799,934 - 22,283,357 (+)EnsemblGRCh38hg38GRCh38
GRCh381122,192,485 - 22,283,357 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371122,214,199 - 22,304,913 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,171,298 - 22,257,975 (+)NCBINCBI36hg18NCBI36
Build 341122,171,297 - 22,257,975NCBI
Celera1122,346,769 - 22,437,966 (+)NCBI
Cytogenetic Map11p14.3NCBI
HuRef1121,897,150 - 21,988,511 (+)NCBIHuRef
CHM1_11122,214,324 - 22,304,648 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on ANO5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1342534
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.