SLC45A2 (solute carrier family 45 member 2)

Gene

• Entrez ID: 51151
• Gene name: Solute carrier family 45 member 2
• Gene symbol: SLC45A2
• Synonyms: 1A1, AIM1, MATP, OCA4, SHEP5
• Chromosome: 5
• Chromosome location: 5p13.2
• Summary: 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 associa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs116887602	G>A,C,T	Pathogenic-likely-pathogenic, benign	Intron variant, coding sequence variant, stop gained, synonymous variant
rs121912619	A>G	Pathogenic, uncertain-significance	Coding sequence variant, 3 prime UTR variant, missense variant
rs121912620	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121912621	C>T	Pathogenic	Coding sequence variant, missense variant
rs146802593	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs200122644	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, stop gained
rs387906317	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906318	GAA>-	Pathogenic	Intron variant, coding sequence variant, inframe deletion
rs562624441	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs730880270	C>T	Pathogenic	Splice acceptor variant, intron variant
rs730880271	A>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs748872789	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs749544685	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs753485165	CT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs757331566	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs759411189	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs775387808	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs794727511	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs797045970	A>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs886042344	A>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1057518722	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1294369944	C>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, splice donor variant
rs1579547726	G>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1579564717	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1364483	hsa-miR-1202	CLIP-seq
MIRT1364484	hsa-miR-1255a	CLIP-seq
MIRT1364485	hsa-miR-1255b	CLIP-seq
MIRT1364486	hsa-miR-1827	CLIP-seq
MIRT1364487	hsa-miR-3915	CLIP-seq
MIRT1364488	hsa-miR-3928	CLIP-seq
MIRT1364489	hsa-miR-3972	CLIP-seq
MIRT1364490	hsa-miR-4328	CLIP-seq
MIRT1364491	hsa-miR-4755-3p	CLIP-seq
MIRT1364492	hsa-miR-4776-3p	CLIP-seq
MIRT1364493	hsa-miR-940	CLIP-seq
MIRT2331972	hsa-miR-150	CLIP-seq
MIRT2331973	hsa-miR-15a	CLIP-seq
MIRT2331974	hsa-miR-15b	CLIP-seq
MIRT2331975	hsa-miR-16	CLIP-seq
MIRT2331976	hsa-miR-195	CLIP-seq
MIRT2331977	hsa-miR-424	CLIP-seq
MIRT2331978	hsa-miR-4317	CLIP-seq
MIRT2331979	hsa-miR-4522	CLIP-seq
MIRT2331980	hsa-miR-4524	CLIP-seq
MIRT2331981	hsa-miR-4713-5p	CLIP-seq
MIRT2331982	hsa-miR-497	CLIP-seq
MIRT2331983	hsa-miR-503	CLIP-seq
MIRT2331984	hsa-miR-532-3p	CLIP-seq
MIRT2331985	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007601	Process	Visual perception	IEA
GO:0008506	Function	Sucrose:proton symporter activity	IBA	21873635
GO:0008506	Function	Sucrose:proton symporter activity	ISS
GO:0015770	Process	Sucrose transport	ISS
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0050896	Process	Response to stimulus	IEA

Other IDs

• MIM: 606202
• HGNC: 16472
• e!Ensembl: ENSG00000164175

Protein

• UniProt ID: Q9UMX9
• Protein name: Membrane-associated transporter protein (Melanoma antigen AIM1) (Protein AIM-1) (Solute carrier family 45 member 2)
• Protein function: Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by de
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13347	MFS_2	37 → 261		Family

• Sequence:

  MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVL
  LSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALY
  LNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGL
  HYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALVLTLCFTVHLCSISEA
  PLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRA
  MTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEF
  LIYERGVEVGCWGLCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPN
  VYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLT
  CMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD

• Sequence length: 530

Pathways

Reactome:

Melanin biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203, 27539887
Carcinoma	Basal cell carcinoma, Squamous cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	31174203, 27539887, 19578363, 31174203, 26829030, 19578363
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	18563784, 21983787, 21559390, 28212542
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Oculocutaneous albinism	Albinism, Oculocutaneous, Oculocutaneous Albinism, Type IV, Oculocutaneous albinism type 4	rs387906240, rs121918167, rs121918169, rs121918170, rs28940876, rs104894314, rs61754388, rs61753185, rs104894313, rs61754393, rs28940879, rs61753178, rs61753180, rs61754375, rs61754387, rs104894316, rs104894317, rs61754399, rs28940881, rs730880270, rs387906317, rs387906318, rs121912621, rs730880271, rs387906560, rs104894130, rs121912778, rs387906561, rs387906562, rs587776952, rs587776953, rs886037643, rs886037644, rs61754381, rs62645914, rs61753254, rs61754365, rs62645902, rs759411189, rs878854351, rs797045970, rs763819379, rs144812594, rs775387808, rs373775562, rs116887602, rs1057518192, rs1057518722, rs540911439, rs772595552, rs1294369944, rs562624441, rs140365820, rs141949212, rs1555452574, rs772398324, rs1555452572, rs1482829698, rs146802593, rs202120684, rs1031268531, rs748901196, rs773970123, rs1579564717, rs147736385, rs1450652793, rs1289685376, rs1595660890, rs1312967591, rs1753106609	14722913, 14722913, 17768386, 14961451, 26818737, 23504663, 19865097, 11574907, 15656822, 15565285, 24845642

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Melanosis	Melanosis		30166351
Skin carcinoma	Squamous cell carcinoma of skin		27424798
Strabismus	Strabismus