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This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]
ANO7 (Anoctamin 7) is a Protein Coding gene. Diseases associated with ANO7 include Prostate Cancer and Spinocerebellar Ataxia, Autosomal Recessive 10. 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. Gene Ontology (GO) annotations related to this gene include intracellular calcium activated chloride channel activity and phospholipid scramblase activity. An important paralog of this gene is ANO4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005229 | NOT intracellular calcium activated chloride channel activity | IDA | 21984732 |
GO:0005254 | chloride channel activity | IBA | 21873635 |
GO:0017128 | phospholipid scramblase activity | IEA | -- |
GO:0046983 | protein dimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 22075693 |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006821 | chloride transport | IDA | 22946059 |
GO:0006869 | lipid transport | IEA | -- |
GO:0034220 | ion transmembrane transport | TAS | -- |
GO:0055085 | transmembrane transport | IBA | 21873635 |
GO:0061588 | calcium activated phospholipid scrambling | IBA | 21873635 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANO7 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANO7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ano7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ano7 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ANO7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ANO7 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ANO7 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ano7 30 |
|
||
ANO7 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | anoh-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs144621012 | Likely Benign: not provided | 241,230,213(+) |
C/T NM_005336.5(HDLBP):c.3531G>A (p.Thr1177=) |
SYNONYMOUS | |
rs145834243 | Benign: not provided | 241,210,463(+) |
G/A NM_001370694.2(ANO7):c.1459-5G>A |
INTRON | |
rs544846502 | Likely Benign: not provided | 241,224,132(+) |
GGCCAGCCAGCTGCAG
NM_001370694.2(ANO7):c.2623_*4del (p.Ser875fs) |
FRAMESHIFT | |
rs574392552 | Likely Benign: not provided | 241,223,660(+) |
AG/A NM_001370694.2(ANO7):c.2413-1del |
SPLICE_ACCEPTOR | |
rs780186842 | Likely Benign: not provided | 241,230,840(+) |
G/A NM_005336.5(HDLBP):c.3393C>T (p.Asp1131=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1000552 | CNV | deletion | 20482838 |
esv1026368 | CNV | deletion | 17803354 |
esv1409539 | CNV | deletion | 17803354 |
esv1480304 | CNV | deletion | 17803354 |
esv26159 | CNV | loss | 19812545 |
esv2647088 | CNV | deletion | 19546169 |
esv2674511 | CNV | deletion | 23128226 |
esv2721986 | CNV | deletion | 23290073 |
esv2721987 | CNV | deletion | 23290073 |
esv2721988 | CNV | deletion | 23290073 |
esv2721989 | CNV | deletion | 23290073 |
esv2721990 | CNV | deletion | 23290073 |
esv2721991 | CNV | deletion | 23290073 |
esv2721992 | CNV | deletion | 23290073 |
esv3594821 | CNV | loss | 21293372 |
esv995493 | CNV | deletion | 20482838 |
nsv1072090 | CNV | deletion | 25765185 |
nsv1115592 | CNV | duplication | 24896259 |
nsv214015 | CNV | deletion | 16902084 |
nsv3241 | CNV | insertion | 18451855 |
nsv3242 | CNV | insertion | 18451855 |
nsv470532 | CNV | loss | 18288195 |
nsv508900 | CNV | insertion | 20534489 |
nsv513025 | CNV | loss | 21212237 |
nsv521716 | CNV | loss | 19592680 |
nsv524008 | CNV | gain | 19592680 |
nsv527790 | CNV | loss | 19592680 |
nsv584955 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
prostate cancer |
|
|
spinocerebellar ataxia, autosomal recessive 10 |
|
|
gnathodiaphyseal dysplasia |
|
|
miyoshi muscular dystrophy 3 |
|
|
tracheomalacia |
|
|