SLC45A2 - solute carrier family 45 member 2 Gene

Homo sapiens

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

Gene ID: 51151 | Gene type: protein coding

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

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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13257	SLC45A2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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