MFSD12 - major facilitator superfamily domain containing 12 Gene

Homo sapiens

Also known as PP3501; C19orf28

Gene ID: 126321 | Gene type: protein coding

About MFSD12

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,538,275-3,557,586 (from NCBI)

This gene has 14 transcripts (splice variants), 228 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues.

Summary

Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Apr 2022]

MFSD12 Products(2)

mRNA	Protein	Name
NM_001287529.2	NP_001274458.1	major facilitator superfamily domain-containing protein 12 isoform d
NM_174983.5	NP_778148.2	major facilitator superfamily domain-containing protein 12 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cysteine transmembrane transporter activity	IDA IDA: Inferred from direct assay	33208952	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cysteine transmembrane transport	IDA IDA: Inferred from direct assay	33208952	GOA
involved in pigment metabolic process involved in pigmentation	IMP IMP: Inferred from mutant phenotype	33208952	GOA
involved in regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	33208952	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in late endosome	IDA IDA: Inferred from direct assay	29025994	GOA
located in lysosome	IDA IDA: Inferred from direct assay	29025994	GOA
located in melanosome	IDA IDA: Inferred from direct assay	33208952	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

MFSD12 Protein Structure

MFS_2

0
100
200
300
400
480 a.a.

Protein Preferred Names

Protein Names

major facilitator superfamily domain-containing protein 12

Related Diseases

Diseases

Alias

Dermatosis Papulosa Nigra

Variola Minor

Alastrim	Cottonpox
Milkpox	Whitepox

Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive

FPHH	Melanosis Universalis Hereditaria
Muh	Familial Progressive Hyperpigmentation With Or Without Hypopigmentation
Hyperpigmentation, Familial Progressive, 2, Formerly	Fph2, Formerly
Hyperpigmentation With Or Without Hypopigmentation	Familial Progressive Hyper- And Hypopigmentation
Hyperpigmentation, Familial Progressive

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-RS08390	MFSD12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MFSD12	MGD	MGI:3604804
Felis catus	MFSD12	VGNC	VGNC:63477
Rattus norvegicus	MFSD12	RGD	RGD:1307722
Macaca mulatta	MFSD12	VGNC	VGNC:74600
Bos taurus	MFSD12	VGNC	VGNC:58388
Canis familiaris	MFSD12	VGNC	VGNC:43198

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