Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51151
Gene name	Solute carrier family 45 member 2
Gene symbol	SLC45A2
Synonyms (NCBI Gene)	1A1AIM1MATPOCA4SHEP5
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

Show/Hide all (24)

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

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005356	Function	D-glucose:proton symporter activity	IEA
GO:0005356	Function	D-glucose:proton symporter activity	ISS
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IDA	32966160
GO:0006583	Process	Melanin biosynthetic process from tyrosine	IEA
GO:0006583	Process	Melanin biosynthetic process from tyrosine	ISS
GO:0007601	Process	Visual perception	IEA
GO:0008506	Function	Sucrose:proton symporter activity	IBA
GO:0008506	Function	Sucrose:proton symporter activity	IEA
GO:0008506	Function	Sucrose:proton symporter activity	ISS
GO:0008645	Process	Hexose transmembrane transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015770	Process	Sucrose transport	IEA
GO:0015770	Process	Sucrose transport	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0033162	Component	Melanosome membrane	IDA	32966160
GO:0033162	Component	Melanosome membrane	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	IDA	32966160
GO:0035752	Process	Lysosomal lumen pH elevation	IEA
GO:0035752	Process	Lysosomal lumen pH elevation	ISS
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048066	Process	Developmental pigmentation	ISS
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
606202	16472	ENSG00000164175

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in mature melanocytes. {ECO:0000269|PubMed:32966160}.

Sequence

MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVL
LSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALY
LNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGL
HYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALVLTLCFTVHLCSISEA
PLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRA
MTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEF
LIYERGVEVGCWGLCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPN
VYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLT
CMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD

Sequence length

530

Interactions

View interactions

	Reactome
			Melanin biosynthesis

206

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Likely pathogenic; Pathogenic	rs779983065	RCV001270520
Albinism or congenital nystagmus	Likely pathogenic; Pathogenic	rs146802593	RCV005253000
Oculocutaneous albinism type 4	Pathogenic; Likely pathogenic	rs757344228, rs760780597, rs1177355814, rs896495198, rs1307137184, rs752370234, rs759043037, rs530738094, rs751978811, rs145379710, rs752501574, rs753041550, rs730880270, rs387906317, rs387906318 View all (23 more)	RCV001542578 RCV003323931 RCV001814625 RCV005416129 RCV004770365 RCV004785405 RCV003235634 RCV004587269 RCV004770313 RCV005042685 RCV005032017 RCV005032020 RCV000004756 RCV000004758 RCV000004759 RCV000004761 RCV000004764 RCV000234810 RCV000193320 RCV000779473 RCV005034541 RCV004786654 RCV003337797 RCV004701733 RCV006275900 RCV005356493 RCV004596604 RCV003985199 RCV004595247 RCV000415377 RCV000500008 RCV000503552 RCV002491149 RCV001093591 RCV005407815 RCV000851384 RCV003441148 RCV005408791
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR	Likely pathogenic; Pathogenic	rs896495198, rs530738094, rs145379710, rs752501574, rs753041550, rs387906317, rs759411189, rs775387808, rs764544992, rs116887602, rs1427916078, rs2478762696, rs200122644, rs146802593, rs1579547726	RCV005040400 RCV005031988 RCV005042685 RCV005032017 RCV005032020 RCV004566683 RCV005031726 RCV004567769 RCV005034541 RCV005044540 RCV006275900 RCV006275902 RCV002491149 RCV006275870 RCV001028049
SLC45A2-related disorder	Pathogenic; Likely pathogenic	rs757344228, rs530738094, rs145379710, rs775387808, rs2478839974, rs146802593, rs202120684	RCV003394125 RCV004756328 RCV003948872 RCV004755829 RCV003400351 RCV004755990 RCV004755989
Thrombocytopenia	Likely pathogenic; Pathogenic	rs779983065	RCV001270520
Uveal melanoma	Likely pathogenic; Pathogenic	rs116887602	RCV005895747

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Malignant melanoma of skin	Benign	rs16891982	RCV000022392
Nonsyndromic Oculocutaneous Albinism	Conflicting classifications of pathogenicity	rs748872789	RCV000755098
Oculocutaneous albinism	Uncertain significance; Conflicting classifications of pathogenicity	rs886060518, rs753485165	RCV000345957 RCV000263225

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	20861488, 27706749, 32966289, 35488210
Albinism Oculocutaneous	Associate	14961451, 18463683, 20806075, 21677667, 22294196, 22734612, 28298193, 30679655, 31077556, 31199599, 37471664
Autoimmune Diseases	Inhibit	28630054
Carcinoma Basal Cell	Associate	19578363
Carcinoma Squamous Cell	Associate	19384953, 19578363, 27424798
Color Vision Defects	Associate	18483556, 23555287
Death	Associate	25238935
Hernandez Fragoso syndrome	Associate	23171239
Intellectual Disability	Associate	23171239
Melanoma	Associate	16116595, 19384953, 19578363, 21559390, 23393597, 23786662, 25093503, 26057890, 28630054, 33167923, 34334114
Melanoma Cutaneous Malignant	Associate	19710684
Neoplasm Metastasis	Associate	25238935
Neoplasms	Associate	28630054
Neutropenia	Associate	21677667
Nystagmus Pathologic	Associate	34078970, 36553465
O'Donnell Pappas syndrome	Associate	36553465
Oculocutaneous albinism type 1	Associate	31077556, 31199599
Oculocutaneous albinism type 2	Associate	31199599
Oculocutaneous Albinism Type IV	Associate	21677667, 23171239, 26057890, 28298193, 31199599, 34078970, 35225164
Photosensitivity Disorders	Associate	29974532
Piebaldism	Associate	36553465
Pigmentation Disorders	Associate	19578363, 21559390, 25451175, 29974532, 33167923, 33600456
Prostatic Neoplasms	Associate	25238935, 29518100, 30307468, 34417538
Rufous oculocutaneous albinism	Associate	20861488, 23171239, 31077556
Skin Diseases	Associate	21712187
Skin Hair Eye Pigmentation Variation In 4	Associate	19384953, 31077556
Skin Hair Eye Pigmentation Variation In 6	Associate	21712187
Skin Neoplasms	Associate	21712187
Sleep Apnea Syndromes	Associate	34446064

SLC45A2 (solute carrier family 45 member 2)