SLC45A2 - solute carrier family 45 member 2 Gene

Also Known as 1A1; AIM1; MATP; OCA4; SHEP5

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 51151

About SLC45A2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:33,944,623-33,984,693 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 200 orthologues, 3 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 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 Products (3)

mRNA	Protein	Name
NM_001012509.4	NP_001012527.2	membrane-associated transporter protein isoform b
NM_001297417.4	NP_001284346.2	membrane-associated transporter protein isoform c
NM_016180.5	NP_057264.4	membrane-associated transporter protein isoform a

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	参考文献	由来
involved in lysosomal lumen pH elevation	IDA IDA: Inferred from direct assay	32966160	GOA
involved in melanin biosynthetic process from tyrosine	IDA IDA: Inferred from direct assay	32966160	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in melanosome membrane	IDA IDA: Inferred from direct assay	32966160	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC45A2 Protein Structure

MFS_2

0
100
200
300
400
500
530 a.a.

Protein Preferred Names	Protein Names
membrane-associated transporter protein	antigen in melanoma 1

関連疾患

Diseases	Alias
Albinism, Oculocutaneous, Type Iv	OCA4 Oculocutaneous Albinism Type 4 Oculocutaneous Albinism, Type Iv Oculocutaneous Albinism Type Iv Albinism, Oculocutaneous, 4
Skin/Hair/Eye Pigmentation, Variation In, 5	SHEP5 Skin/Hair/Eye Pigmentation 5, Black/Nonblack Hair
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Albinism
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
Female Breast Nipple And Areola Cancer	Malignant Neoplasm Of Nipple And Areola Of Female Breast Malignant Neoplasm Of Nipple Or Areola Of Female Breast
Albinism, Oculocutaneous, Type Iii	Rufous Oculocutaneous Albinism Oculocutaneous Albinism Type 3 OCA3 Roca Xanthism Oculocutaneous Albinism Type Iii Albinism Iii Oculocutaneous Albinism, Type Iii Albinism 3 Albinism, Oculocutaneous, Type 3 Rufous Oca Red Oculocutaneous Albinism Xanthous Oculocutaneous Albinism Albinism, Oculocutaneous, 3 Oca-Iii
Albinism, Oculocutaneous, Type Ib	OCA1B Oculocutaneous Albinism Type 1b Albinism, Yellow Mutant Type Yellow Albinism Oculocutaneous Albinism Type Ib Temperature-Sensitive Oculocutaneous Albinism Type 1 Oculocutaneous Albinism, Type Ib Yellow Mutant Albinism Oca1-Ts Ts Oca Type 1 Oculocutaneous Albinism, Amish Type Platinum Oculocutaneous Albinism Yellow Oculocutaneous Albinism Albinism, Oculocutaneous, 1b Albinism Yellow Mutant Type Oca-Ib Oca-Its Oculocutaneous Albinism Type I Temperature-Sensitive Albinism, Oculocutaneous, Type I, Temperature-Sensitive Minimal Pigment Oculocutaneous Albinism
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Albinism, Oculocutaneous, Type Ia	Oculocutaneous Albinism Type 1 OCA1A Oca1 Oculocutaneous Albinism, Tyrosinase-Negative Atn Tyrosinase-Negative Oculocutaneous Albinism Albinism I Oculocutaneous Albinism Type Ia Oculocutaneous Albinism Type 1a Oculocutaneous Albinism, Type I Albinism 1 Oculocutaneous Albinism, Tyrosinase Negative Albinism, Oculocutaneous, 1a Albinism Oculocutaneous Ia Oca-1a Oca-Ia Oculocutaneous Albinism Tyrosinase Negative Albinism, Oculocutaneous, Type I
Hypopigmentation Of Eyelid
Albinism, Oculocutaneous, Type Ii	OCA2 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type Ii Albinoidism Tyrosinase-Positive Oculocutaneous Albinism Brown Oculocutaneous Albinism Oculocutaneous Albinism, Tyrosinase-Positive Albinism Ii Albinism, Brown Oculocutaneous Oculocutaneous Albinism, Type Ii, Modifier Of Oculocutaneous Albinism, Type Ii Albinism, Oculocutaneous, Type Ii, Modifier Of Albinism 2 Albinism, Oculocutaneous, Type 2 Oculocutaneous Albinism Tyrosinase Positive Oculocutaneous Albinism, Tyrosinase Positive Albinism, Oculocutaneous, 2 Boca Oca-2 Oculocutaneous Albinism Tyrosinase-Positive
Chromosome 5p13 Duplication Syndrome	5p13 Microduplication Syndrome Trisomy 5p13 Dup(5)(P13)
Acute Contagious Conjunctivitis	Pink Eye Contagious Opthalmia Pinkeye Conjunctivitis Keratoconjunctivitis Due To Mycoplasma Conjunctivae
Erythema Infectiosum	Fifth Disease Slapped Cheek Syndrome Parvovirus B19 Infection
Albinism, Oculocutaneous, Type V	OCA5 Oculocutaneous Albinism Type V Oculocutaneous Albinism Type 5
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
Viral Exanthem	Viral Rash Nos Virus Exanthema Nonspecific Exanthematous Viral Infection Nonspecific Viral Exanthem Nonspecific Viral Rash Viral Enanthema Nos Viral Disease Characterised By Exanthem Viral Exanthemata Viral Exanthem, Unspecified Viral Exanthema Nos
Acute Conjunctivitis
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Hermansky-Pudlak Syndrome 1	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells HPS1 Delta Storage Pool Disease Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Hermansky-Pudlak Syndrome, Type 1 Platelet Storage Pool Deficiency
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13257	SLC45A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	SLC45A2	RGD	RGD:1306690
Bos taurus	SLC45A2	VGNC	VGNC:34881
Felis catus	SLC45A2	VGNC	VGNC:65377
Macaca mulatta	SLC45A2	VGNC	VGNC:82240
Canis familiaris	SLC45A2	VGNC	VGNC:46423
Mus musculus	SLC45A2	MGD	MGI:2153040
Others	SLC45A2	NCBI