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This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]
ASIC5 (Acid Sensing Ion Channel Subunit Family Member 5) is a Protein Coding gene. Diseases associated with ASIC5 include Pregnancy Loss, Recurrent 3 and Liddle Syndrome 1. 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 sodium channel activity and proton channel activity. An important paralog of this gene is ASIC1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04J155866 | Promoter | 0.3 | EPDnew | 600.7 | +1.0 | 1006 | 0.1 | ASIC5 LOC105377507 TDO2 lnc-GUCY1B1-3 | ||
GH04J155854 | Promoter/Enhancer | 1.2 | EPDnew Ensembl ENCODE | 0.4 | +12.5 | 12493 | 0.8 | NFE2 FOS IKZF1 TBP RAD21 ZNF143 RXRA YY1 POLR2A TAF1 | LOC105377507 TDO2 lnc-GUCY1B1-3 ASIC5 | |
GH04J155888 | Enhancer | 0.9 | Ensembl ENCODE | 0.4 | -22.3 | -22306 | 1.6 | REST BACH1 STAT3 GABPA TCF12 IKZF2 SP1 DPF2 RELB CEBPB | TDO2 piR-40832-014 piR-33570-007 ASIC5 CTSO | |
GH04J155906 | Enhancer | 0.9 | Ensembl ENCODE | 0.3 | -40.3 | -40298 | 2.4 | PRDM10 ZNF629 POLR2A IKZF2 SP1 ZNF341 ZBTB44 ZXDB OSR2 BCL11A | TDO2 CTSO piR-46847-193 piR-32325-129 ASIC5 | |
GH04J155903 | Promoter | 0.8 | EPDnew | 0.3 | -36.4 | -36374 | 0.1 | REST SP1 FOXA2 ATF3 YY1 ZBTB33 JUND NR2F2 RAD21 HNF4A | TDO2 piR-46847-193 piR-32325-129 ASIC5 CTSO |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005272 | sodium channel activity | IEA | -- |
GO:0015252 | proton channel activity | IEA | -- |
GO:0015280 | ligand-gated sodium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Development Endothelin-1/EDNRA signaling | ||
3 | 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:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0034220 | ion transmembrane transport | TAS | -- |
GO:0035725 | sodium ion transmembrane transport | IEA | -- |
GO:1902600 | proton transmembrane transport | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASIC5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASIC5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACCN5 30 |
|
||
ASIC5 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Asic5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asic5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASIC5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASIC5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASIC5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asic5 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | delm-1 31 |
|
OneToMany | |
delm-2 31 |
|
OneToMany | |||
acd-1 31 |
|
OneToMany | |||
acd-2 31 |
|
OneToMany | |||
flr-1 31 |
|
OneToMany | |||
acd-4 31 |
|
OneToMany | |||
acd-5 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684614 | Pathogenic: Pregnancy loss, recurrent, susceptibility to, 3 | 155,852,222(-) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv856e201 | CNV | deletion | 23290073 |
esv2385011 | CNV | deletion | 18987734 |
esv2728570 | CNV | deletion | 23290073 |
esv2728572 | CNV | deletion | 23290073 |
esv2728575 | CNV | deletion | 23290073 |
esv2728576 | CNV | deletion | 23290073 |
esv3575777 | CNV | gain | 25503493 |
nsv1029122 | CNV | gain | 25217958 |
nsv830121 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pregnancy loss, recurrent 3 |
|
|
liddle syndrome 1 |
|
|
pseudohypoaldosteronism |
|
|
pseudohypoaldosteronism, type i, autosomal dominant |
|
|
common wart |
|
|