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The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SLC7A2 (Solute Carrier Family 7 Member 2) is a Protein Coding gene. Diseases associated with SLC7A2 include Lysinuric Protein Intolerance. 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 amino acid transmembrane transporter activity and basic amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000064 | L-ornithine transmembrane transporter activity | IBA | 21873635 |
GO:0015171 | amino acid transmembrane transporter activity | IDA,TAS | -- |
GO:0015174 | basic amino acid transmembrane transporter activity | TAS | 8954799 |
GO:0015179 | L-amino acid transmembrane transporter activity | IDA | -- |
GO:0015181 | arginine transmembrane transporter activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 8954799 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IDA | -- |
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:0015807 | L-amino acid transport | IDA | -- |
GO:0015809 | arginine transport | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
GO:0089718 | amino acid import across plasma membrane | IDA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc7a2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | SLC7A2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc7a2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC7A2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC7A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC7A2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC7A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc7a2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc7a2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010563 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7255 30 32 |
|
||
CG5535 32 |
|
|
|||
CG11128 32 |
|
|
|||
CG13248 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | F23F1.6 30 32 |
|
||
C50D2.2 32 |
|
|
|||
B0454.6 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAT2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0623500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114454370 | Benign: not provided | 17,563,644(+) |
G/C NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=) |
SYNONYMOUS | |
rs148874201 | Benign: not provided | 17,558,317(+) |
C/T NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=) |
SYNONYMOUS | |
rs150497905 | Benign: not provided | 17,561,961(+) |
C/T NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=) |
SYNONYMOUS | |
rs1563481081 | Uncertain Significance: not provided | 17,558,366(+) |
T/C NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro) |
MISSENSE | |
rs1134975 | - |
p.Cys376Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2666848 | CNV | deletion | 23128226 |
esv2736689 | CNV | deletion | 23290073 |
esv2736690 | CNV | deletion | 23290073 |
esv2736691 | CNV | deletion | 23290073 |
esv2759600 | CNV | loss | 17122850 |
esv2764066 | CNV | gain+loss | 21179565 |
esv3409278 | CNV | duplication | 20981092 |
esv34867 | CNV | loss | 17911159 |
esv3616489 | CNV | loss | 21293372 |
esv3616490 | CNV | loss | 21293372 |
esv3891362 | CNV | loss | 25118596 |
esv989082 | CNV | deletion | 20482838 |
nsv1024271 | CNV | loss | 25217958 |
nsv1118045 | CNV | deletion | 24896259 |
nsv1121686 | CNV | deletion | 24896259 |
nsv1136000 | CNV | deletion | 24896259 |
nsv1145193 | CNV | deletion | 24896259 |
nsv1151657 | CNV | deletion | 26484159 |
nsv507445 | OTHER | sequence alteration | 20534489 |
nsv516180 | CNV | loss | 19592680 |
nsv610680 | CNV | loss | 21841781 |
nsv8305 | CNV | loss | 18304495 |
nsv831246 | CNV | gain | 17160897 |
nsv831247 | CNV | gain | 17160897 |
nsv956084 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lysinuric protein intolerance |
|
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