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This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
SLC43A2 (Solute Carrier Family 43 Member 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Amino acid transport across the plasma membrane. Gene Ontology (GO) annotations related to this gene include L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC43A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015171 | amino acid transmembrane transporter activity | TAS | -- |
GO:0015175 | neutral amino acid transmembrane transporter activity | IBA | 21873635 |
GO:0015179 | L-amino acid transmembrane transporter activity | IEA,IBA | 21873635 |
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 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
2 | Amino acid transport across the plasma membrane |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006865 | amino acid transport | TAS | -- |
GO:0015804 | neutral amino acid transport | IBA | 21873635 |
GO:0015807 | L-amino acid transport | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
GO:1902475 | L-alpha-amino acid transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Chloride ion | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 14b | · | 14c | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | - | ||||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | - | - | |||||||||||||||||
SP10: | - | ||||||||||||||||||
SP11: | |||||||||||||||||||
SP12: | |||||||||||||||||||
SP13: | |||||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SLC43A2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SLC43A2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SLC43A2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Slc43a2 32 |
|
||
mouse (Mus musculus) |
Mammalia | Slc43a2 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SLC43A2 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SLC43A2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SLC43A2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SLC43A2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | slc43a2 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.5041 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | slc43a2a 33 |
|
OneToMany | |
slc43a2b 33 32 |
|
OneToMany | |||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11109 32 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000094947 | -- | 1,571,484(-) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
rs1000150770 | -- | 1,610,013(-) | G/A/T | genic_upstream_transcript_variant, intron_variant | |
rs1000200876 | -- | 1,605,816(-) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
rs1000246095 | -- | 1,609,560(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
rs1000320136 | -- | 1,576,449(-) | C/T | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1004030 | CNV | deletion | 20482838 |
esv2660696 | CNV | deletion | 23128226 |
esv2670177 | CNV | deletion | 23128226 |
esv2715472 | CNV | deletion | 23290073 |
esv2715475 | CNV | deletion | 23290073 |
esv2715476 | CNV | deletion | 23290073 |
esv2715477 | CNV | deletion | 23290073 |
esv3639690 | CNV | loss | 21293372 |
esv3639691 | CNV | loss | 21293372 |
esv3639692 | CNV | loss | 21293372 |
nsv1134585 | CNV | deletion | 24896259 |
nsv1945 | CNV | insertion | 18451855 |
nsv457635 | CNV | gain | 19166990 |
nsv516055 | CNV | gain+loss | 19592680 |
nsv527897 | CNV | loss | 19592680 |
nsv574211 | CNV | gain | 21841781 |
nsv833334 | CNV | loss | 17160897 |
No disorders were found for SLC43A2 Gene.