MFSD12 - major facilitator superfamily domain containing 12 Gene

Also Known as PP3501; C19orf28

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126321

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 References 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 References 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 References 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

MFS_2: MFS/sugar transport protein (23 - 422)

  • 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

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 Set / 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
Others MFSD12 NCBI