MFSD12 (major facilitator superfamily domain containing 12)

Gene

• Entrez ID: 126321
• Gene name: Major facilitator superfamily domain containing 12
• Gene symbol: MFSD12
• Synonyms (NCBI Gene): C19orf28, PP3501, SLC59B1
• Chromosome: 19
• Chromosome location: 19p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023143	hsa-miR-124-3p	Microarray	18668037
MIRT030274	hsa-miR-26b-5p	Microarray	19088304
MIRT041689	hsa-miR-484	CLASH	23622248
MIRT039106	hsa-miR-769-3p	CLASH	23622248
MIRT716858	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT716857	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT716856	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT716855	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT716854	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT716853	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT716858	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT716857	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT716856	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT716855	hsa-miR-6879-3p	HITS-CLIP	19536157
MIRT716854	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT716853	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT755869	hsa-miR-4732-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	38654325

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005764	Component	Lysosome	IDA	29025994, 33208952
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005770	Component	Late endosome	IDA	29025994
GO:0005886	Component	Plasma membrane	IBA
GO:0006865	Process	Amino acid transport	IEA
GO:0008643	Process	Carbohydrate transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0033229	Function	Cysteine transmembrane transporter activity	IBA
GO:0033229	Function	Cysteine transmembrane transporter activity	IDA	33208952
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042470	Component	Melanosome	IDA	33208952
GO:0043474	Process	Pigment metabolic process involved in pigmentation	IBA
GO:0043474	Process	Pigment metabolic process involved in pigmentation	IEA
GO:0043474	Process	Pigment metabolic process involved in pigmentation	IMP	33208952
GO:0048021	Process	Regulation of melanin biosynthetic process	IBA
GO:0048021	Process	Regulation of melanin biosynthetic process	IEA
GO:0048021	Process	Regulation of melanin biosynthetic process	IMP	33208952
GO:0048022	Process	Negative regulation of melanin biosynthetic process	IEA
GO:1903712	Process	Cysteine transmembrane transport	IBA
GO:1903712	Process	Cysteine transmembrane transport	IDA	33208952

Other IDs

• MIM: 617745
• HGNC: 28299
• e!Ensembl: ENSG00000161091

Protein

• UniProt ID: Q6NUT3
• Protein name: Major facilitator superfamily domain-containing protein 12
• Protein function: Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation (PubMed:33208952, PubMed:37751742). In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cyst
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13347	MFS_2	24 → 426		Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with high expression in primary melanocytes. {ECO:0000269|PubMed:29025994, ECO:0000269|PubMed:33208952}.
• Sequence:

  MGPGPPAAGAAPSPRPLSLVARLSYAVGHFLNDLCASMWFTYLLLYLHSVRAYSSRGAGL
  LLLLGQVADGLCTPLVGYEADRAASCCARYGPRKAWHLVGTVCVLLSFPFIFSPCLGCGA
  ATPEWAALLYYGPFIVIFQFGWASTQISHLSLIPELVTNDHEKVELTALRYAFTVVANIT
  VYGAAWLLLHLQGSSRVEPTQDISISDQLGGQDVPVFRNLSLLVVGVGAVFSLLFHLGTR
  ERRRPHAEEPGEHTPLLAPATAQPLLLWKHWLREPAFYQVGILYMTTRLIVNLSQTYMAM
  YLTYSLHLPKKFIATIPLVMYLSGFLSSFLMKPINKCIGRNMTYFSGLLVILAFAAWVAL
  AEGLGVAVYAAAVLLGAGCATILVTSLAMTADLIGPHTNSGAFVYGSMSFLDKVANGLAV
  MAIQSLHPCPSELCCRACVSFYHWAMVAVTGGVGVAAALCLCSLLLWPTRLRRWDRDARP
  

• Sequence length: 480

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MFSD12 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Melanoma	Stimulate	30385854	★☆☆☆☆ Found in Text Mining only
Metrorrhagia	Associate	32835660	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	30385854	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30385854	★☆☆☆☆ Found in Text Mining only