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SLC44A2 (Solute Carrier Family 44 Member 2) is a Protein Coding gene. Diseases associated with SLC44A2 include Femoral Vein Thrombophlebitis and Deafness, Autosomal Recessive 68. Among its related pathways are Phospholipase D signaling pathway and Synthesis of PC. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and choline transmembrane transporter activity. An important paralog of this gene is SLC44A5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015220 | choline transmembrane transporter activity | IDA,TAS | 10677542 |
GO:0022857 | transmembrane transporter activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | 26746385 |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA,TAS | 10677542 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
3 | Glycerophospholipid biosynthesis | ||
4 | Metabolism |
.40
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|
5 | Phospholipase D signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0015871 | choline transport | IDA,TAS | 10677542 |
GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | HMP | 12761501 |
GO:0043312 | neutrophil degranulation | TAS | -- |
GO:0055085 | transmembrane transport | IDA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Choline | Approved | Nutra | Transporter, substrate | 223 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 16d | · | 16e | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC44A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC44A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC44A2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC44A2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc44a2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slc44a2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC44A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC44A2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC44A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc44a2 30 |
|
||
Str.7588 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | slc44a2 30 31 |
|
OneToMany | |
SLC44A2 (1 of 2) 31 |
|
OneToMany | |||
sbcb39 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10852 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11880 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | chtl-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PNS1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G15380 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0681600 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12838 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1071907 | CNV | deletion | 25765185 |
nsv1127651 | CNV | deletion | 24896259 |
nsv1160584 | CNV | deletion | 26073780 |
nsv833744 | CNV | loss | 17160897 |
nsv833745 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
femoral vein thrombophlebitis |
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deafness, autosomal recessive 68 |
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meniere disease |
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choline deficiency disease |
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coffin-siris syndrome 1 |
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