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This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
SLC45A2 (Solute Carrier Family 45 Member 2) is a Protein Coding gene. Diseases associated with SLC45A2 include Albinism, Oculocutaneous, Type Iv and Skin/Hair/Eye Pigmentation, Variation In, 5. Among its related pathways are Viral mRNA Translation and Metabolism. An important paralog of this gene is SLC45A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008506 | sucrose:proton symporter activity | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0033162 | melanosome membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Melanin biosynthesis | ||
2 | Metabolism |
.40
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|
3 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007601 | visual perception | IEA | -- |
GO:0015770 | sucrose transport | ISS | -- |
GO:0042438 | melanin biosynthetic process | IEA | -- |
GO:0048066 | developmental pigmentation | IEA | -- |
GO:0050896 | response to stimulus | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | SLC45A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC45A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC45A2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC45A2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc45a2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc45a2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SLC45A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC45A2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc45a2 30 |
|
||
Str.5600 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | slc45a2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG41087 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627608 | Likely Pathogenic: Oculocutaneous albinism type 4 | 33,984,435(-) | G/T | MISSENSE_VARIANT | |
627609 | Uncertain Significance: Oculocutaneous albinism type 4 | 33,984,397(-) | C/A | MISSENSE_VARIANT | |
627610 | Likely Pathogenic: Oculocutaneous albinism type 4 | 33,984,393(-) | C/A | MISSENSE_VARIANT | |
725578 | Likely Benign: not provided | 33,954,440(-) | C/A | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
730399 | Likely Benign: not provided | 33,947,259(-) | G/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2730053 | CNV | deletion | 23290073 |
esv33876 | CNV | loss | 17666407 |
esv3604666 | CNV | gain | 21293372 |
esv3894173 | CNV | loss | 25118596 |
nsv1019937 | CNV | loss | 25217958 |
nsv462115 | CNV | loss | 19166990 |
nsv519240 | CNV | gain | 19592680 |
nsv522715 | CNV | gain | 19592680 |
nsv597792 | CNV | loss | 21841781 |
nsv597793 | CNV | loss | 21841781 |
nsv830255 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
albinism, oculocutaneous, type iv |
|
|
skin/hair/eye pigmentation, variation in, 5 |
|
|
oculocutaneous albinism |
|
|
albinism |
|
|
alpha-methylacyl-coa racemase deficiency |
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|