SLC45A2 - solute carrier family 45 member 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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 References Source
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 References Source
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

MFS_2: MFS/sugar transport protein (43 - 525)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13257 SLC45A2 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others SLC45A2 NCBI