MFSD12
gene geneOn this page
Also known as MGC20700PP3501SLC59B1
Summary
MFSD12 (major facilitator superfamily domain containing 12, HGNC:28299) is a protein-coding gene on chromosome 19p13.3, encoding Major facilitator superfamily domain-containing protein 12 (Q6NUT3). Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation.
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.
Source: NCBI Gene 126321 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_174983
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28299 |
| Approved symbol | MFSD12 |
| Name | major facilitator superfamily domain containing 12 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20700, PP3501, SLC59B1 |
| Ensembl gene | ENSG00000161091 |
| Ensembl biotype | protein_coding |
| OMIM | 617745 |
| Entrez | 126321 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000355415, ENST00000398558, ENST00000585788, ENST00000585814, ENST00000586402, ENST00000588626, ENST00000588918, ENST00000589063, ENST00000589157, ENST00000589995, ENST00000591878, ENST00000592652, ENST00000615073, ENST00000913269, ENST00000951867
RefSeq mRNA: 2 — MANE Select: NM_174983
NM_001287529, NM_174983
CCDS: CCDS42465, CCDS74256
Canonical transcript exons
ENST00000355415 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001115268 | 3546255 | 3546425 |
| ENSE00001115271 | 3547272 | 3547364 |
| ENSE00001148437 | 3546074 | 3546168 |
| ENSE00001402446 | 3557106 | 3557586 |
| ENSE00001407707 | 3544199 | 3544732 |
| ENSE00002247760 | 3544809 | 3544939 |
| ENSE00003459115 | 3548123 | 3548267 |
| ENSE00003515695 | 3550984 | 3551194 |
| ENSE00003619112 | 3547455 | 3547547 |
| ENSE00003620104 | 3547848 | 3548030 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 96.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 67.3401 / max 2705.6961, expressed in 1817 samples.
FANTOM5 promoters (22 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178303 | 56.9738 | 1813 |
| 178302 | 3.7720 | 178 |
| 178304 | 2.9052 | 1259 |
| 178317 | 1.0760 | 482 |
| 178298 | 0.6511 | 255 |
| 178299 | 0.4423 | 156 |
| 178315 | 0.4118 | 58 |
| 178307 | 0.2608 | 64 |
| 178294 | 0.1421 | 55 |
| 178314 | 0.1256 | 43 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 96.92 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.63 | gold quality |
| right uterine tube | UBERON:0001302 | 96.42 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.41 | gold quality |
| granulocyte | CL:0000094 | 95.37 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.27 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.17 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.67 | gold quality |
| body of pancreas | UBERON:0001150 | 94.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.37 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.28 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.94 | gold quality |
| monocyte | CL:0000576 | 93.87 | gold quality |
| mononuclear cell | CL:0000842 | 93.69 | gold quality |
| leukocyte | CL:0000738 | 93.56 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.56 | gold quality |
| tibial nerve | UBERON:0001323 | 93.30 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.20 | gold quality |
| skin of leg | UBERON:0001511 | 93.06 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.94 | gold quality |
| pituitary gland | UBERON:0000007 | 92.82 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.75 | gold quality |
| spinal cord | UBERON:0002240 | 92.64 | gold quality |
| thyroid gland | UBERON:0002046 | 92.56 | gold quality |
| spleen | UBERON:0002106 | 92.46 | gold quality |
| right coronary artery | UBERON:0001625 | 92.37 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.35 | gold quality |
| body of stomach | UBERON:0001161 | 92.32 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.32 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 18.25 |
| E-ANND-3 | yes | 7.50 |
| E-CURD-112 | yes | 3.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting MFSD12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-6738-5P | 96.33 | 63.61 | 815 |
| HSA-MIR-1266-3P | 96.23 | 66.36 | 778 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
| HSA-MIR-1914-3P | 95.07 | 63.37 | 762 |
Literature-anchored findings (GeneRIF, showing 4)
- pp3501 inhibited the proliferation of SH-SY5Y cells, arrested the cell cycle at G1 phase, and sensitized the SH-SY5Y cells to sodium butyrate treatment. (PMID:22441875)
- Elevated MFSD12 expression promotes melanoma cell proliferation, and MFSD12 is a valuable prognostic biomarker and promising therapeutic target in melanoma. (PMID:30385854)
- MFSD12 mediates the import of cysteine into melanosomes and lysosomes. (PMID:33208952)
- Major Facilitator Superfamily Domain Containing 12 Is Overexpressed in Lung Cancer and Exhibits an Oncogenic Role in Lung Adenocarcinoma Cells. (PMID:38687351)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mfsd12a | ENSDARG00000061908 |
| mus_musculus | Mfsd12 | ENSMUSG00000034854 |
| rattus_norvegicus | Mfsd12 | ENSRNOG00000039858 |
| caenorhabditis_elegans | WBGENE00017530 |
Paralogs (2): MFSD2A (ENSG00000168389), MFSD2B (ENSG00000205639)
Protein
Protein identifiers
Major facilitator superfamily domain-containing protein 12 — Q6NUT3 (reviewed: Q6NUT3)
All UniProt accessions (8): Q6NUT3, A0A087WU85, A0A0A0MS91, K7EJS5, K7EKU1, K7ENE1, K7EQ22, K7ERJ8
UniProt curated annotations — full annotation on UniProt →
Function. Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation. In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin pigmentation. Also catalyzes import of cysteine into lysosomes in non-pigmented cells, regulating lysosomal cystine and cysteine storage, which is essnetial for redox homeostasis.
Subcellular location. Melanosome membrane. Lysosome membrane.
Tissue specificity. Widely expressed, with high expression in primary melanocytes.
Post-translational modifications. Phosphorylation at Thr-254 by MTOR via mTORC1 pathway promotes cysteine transport in lysosomes, thereby regulating lysosomal cysteine and cystine storage and redox homeostasis.
Polymorphism. Genetic variants in MFSD12 cause skin pigmentation variation. Skin pigmentation is among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. His-192 is commonly found in East Asians and Native Americans only, and significantly correlates with lower solar radiation intensity in East Asia.
Similarity. Belongs to the major facilitator superfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6NUT3-1 | 1 | yes |
| Q6NUT3-2 | 2 | |
| Q6NUT3-3 | 3 | |
| Q6NUT3-4 | 4 |
RefSeq proteins (2): NP_001274458, NP_778148* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
| IPR039672 | MFS_2 | Family |
Pfam: PF13347
Catalyzed reactions (Rhea), 1 shown:
- L-cysteine(in) = L-cysteine(out) (RHEA:29655)
UniProt features (43 total): topological domain 12, transmembrane region 12, mutagenesis site 7, sequence variant 5, splice variant 3, modified residue 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6NUT3-F1 | 84.77 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 1, 254
Mutagenesis-validated functional residues (7):
| Position | Phenotype |
|---|---|
| 13 | does not affect phosphorylation by mtor. |
| 73 | does not affect phosphorylation by mtor. |
| 113 | does not affect phosphorylation by mtor. |
| 122 | does not affect phosphorylation by mtor. |
| 254 | abolished phosphorylation by mtor; dominant-negative inhibitor of cysteine transporter activity. |
| 254 | mimics phosphorylation; enhanced cysteine and cystine storage in lysosomes. |
| 256–257 | reduced localization to lysosomes and redirection to the cell membrane. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 172 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_PIGMENTATION, GOBP_AMINO_ACID_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOBP_PIGMENT_METABOLIC_PROCESS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_ORGANIC_CATION_TRANSPORT, GOBP_PIGMENT_BIOSYNTHETIC_PROCESS
GO Biological Process (8): carbohydrate transport (GO:0008643), melanin biosynthetic process (GO:0042438), pigment metabolic process involved in pigmentation (GO:0043474), regulation of melanin biosynthetic process (GO:0048021), negative regulation of melanin biosynthetic process (GO:0048022), L-cysteine transmembrane transport (GO:1903712), amino acid transport (GO:0006865), transmembrane transport (GO:0055085)
GO Molecular Function (3): symporter activity (GO:0015293), L-cysteine transmembrane transporter activity (GO:0033229), protein binding (GO:0005515)
GO Cellular Component (7): lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome (GO:0005770), plasma membrane (GO:0005886), melanosome membrane (GO:0033162), melanosome (GO:0042470), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 3 |
| melanin biosynthetic process | 2 |
| melanin metabolic process | 1 |
| secondary metabolite biosynthetic process | 1 |
| pigment biosynthetic process | 1 |
| phenol-containing compound biosynthetic process | 1 |
| pigment metabolic process | 1 |
| pigmentation | 1 |
| regulation of secondary metabolite biosynthetic process | 1 |
| regulation of melanin biosynthetic process | 1 |
| negative regulation of secondary metabolite biosynthetic process | 1 |
| L-cysteine transport | 1 |
| L-alpha-amino acid transmembrane transport | 1 |
| cellular process | 1 |
| secondary active transmembrane transporter activity | 1 |
| sulfur amino acid transmembrane transporter activity | 1 |
| neutral L-amino acid transmembrane transporter activity | 1 |
| L-amino acid transmembrane transporter activity | 1 |
| L-cysteine transmembrane transport | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endosome | 1 |
| membrane | 1 |
| cell periphery | 1 |
| melanosome | 1 |
| chitosome | 1 |
| pigment granule membrane | 1 |
| pigment granule | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MFSD12 | SLC45A2 | Q9UMX9 | 689 |
| MFSD12 | SLC67A2 | Q8NBP5 | 639 |
| MFSD12 | MFSD6L | Q8IWD5 | 625 |
| MFSD12 | MFSD11 | O43934 | 624 |
| MFSD12 | SLC24A5 | Q71RS6 | 609 |
| MFSD12 | SLC68A1 | Q14CX5 | 606 |
| MFSD12 | MFSD6 | Q6ZSS7 | 578 |
| MFSD12 | SLC75A1 | Q14728 | 537 |
| MFSD12 | UNC93A | Q86WB7 | 530 |
| MFSD12 | OCA2 | Q04671 | 527 |
| MFSD12 | MFSD8 | Q8NHS3 | 515 |
| MFSD12 | SLC61A1 | Q6N075 | 511 |
| MFSD12 | TMEM132E | Q6IEE7 | 498 |
| MFSD12 | TLCD3A | Q8TBR7 | 493 |
| MFSD12 | TPCN2 | Q8NHX9 | 492 |
IntAct
26 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| MFSD12 | ADRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Nrip3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| BSCL2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| CRELD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN31 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| OPRL1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN4A | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM169 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC5A6 | SLC31A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC26A6 | SLC25A17 | psi-mi:“MI:0914”(association) | 0.350 |
| PMEL | MAN1A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SYPL2 | TSPAN15 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK1A | MFSD12 | psi-mi:“MI:0914”(association) | 0.350 |
| SLCO4C1 | SLC9A1 | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (92): MFSD12 (Affinity Capture-MS), MFSD12 (Synthetic Growth Defect), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-MS), MFSD12 (Two-hybrid), MFSD12 (Two-hybrid), SSMEM1 (Two-hybrid), MFSD12 (Two-hybrid), MFSD12 (Affinity Capture-MS), MFSD12 (Affinity Capture-RNA), MFSD12 (Affinity Capture-MS)
ESM2 similar proteins: A0A3Q2HW92, A6NDV4, A6NFX1, A6QLK4, B1AWJ5, F1NCD6, F1NJ67, F1PZV2, O35308, O35595, O70461, O95907, Q08DX7, Q0IHM1, Q0P5C0, Q0P5M9, Q13286, Q14728, Q29611, Q2YDU8, Q3T9M1, Q3U481, Q501I9, Q5R8G5, Q5R9A1, Q5U419, Q60HH0, Q61124, Q66H95, Q6NUT3, Q6UXD7, Q6ZMD2, Q7RTT9, Q8BFQ6, Q8CE47, Q8NA29, Q8R0G7, Q8R139, Q8TB61, Q8VCW4
Diamond homologs: A0A3Q2HW92, F1PZV2, Q3U481, Q6NUT3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SLC-mediated transmembrane transport | 6 | 16.9× | 9e-05 |
| Transport of small molecules | 6 | 7.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 5 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2316 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:3543233:A:AG | acceptor_gain | 1.0000 |
| 19:3543233:AGC:A | acceptor_gain | 1.0000 |
| 19:3543234:G:GG | acceptor_gain | 1.0000 |
| 19:3543234:GC:G | acceptor_gain | 1.0000 |
| 19:3543234:GCG:G | acceptor_gain | 1.0000 |
| 19:3543234:GCGAT:G | acceptor_gain | 1.0000 |
| 19:3543252:T:TA | acceptor_gain | 1.0000 |
| 19:3543453:G:GG | donor_gain | 1.0000 |
| 19:3546068:ACTC:A | donor_loss | 1.0000 |
| 19:3546069:CTCA:C | donor_loss | 1.0000 |
| 19:3546070:TCA:T | donor_loss | 1.0000 |
| 19:3546072:A:AC | donor_gain | 1.0000 |
| 19:3546072:ACG:A | donor_loss | 1.0000 |
| 19:3546072:ACGGG:A | donor_gain | 1.0000 |
| 19:3546073:C:CT | donor_gain | 1.0000 |
| 19:3546073:CG:C | donor_gain | 1.0000 |
| 19:3546073:CGG:C | donor_gain | 1.0000 |
| 19:3546073:CGGG:C | donor_gain | 1.0000 |
| 19:3546073:CGGGC:C | donor_gain | 1.0000 |
| 19:3546164:CTGTT:C | acceptor_gain | 1.0000 |
| 19:3546165:TGTT:T | acceptor_gain | 1.0000 |
| 19:3546166:GTT:G | acceptor_gain | 1.0000 |
| 19:3546167:TT:T | acceptor_gain | 1.0000 |
| 19:3546169:C:CC | acceptor_gain | 1.0000 |
| 19:3546170:T:G | acceptor_loss | 1.0000 |
| 19:3546171:G:C | acceptor_gain | 1.0000 |
| 19:3546249:CCCTA:C | donor_loss | 1.0000 |
| 19:3546250:CCTAC:C | donor_loss | 1.0000 |
| 19:3546252:TAC:T | donor_loss | 1.0000 |
| 19:3546253:A:AC | donor_gain | 1.0000 |
AlphaMissense
3052 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:3550984:C:A | R170M | 0.998 |
| 19:3551069:A:G | W142R | 0.998 |
| 19:3551069:A:T | W142R | 0.998 |
| 19:3546136:G:C | S409R | 0.997 |
| 19:3546136:G:T | S409R | 0.997 |
| 19:3546138:T:G | S409R | 0.997 |
| 19:3557284:G:C | F40L | 0.997 |
| 19:3557284:G:T | F40L | 0.997 |
| 19:3557286:A:G | F40L | 0.997 |
| 19:3557308:G:C | N32K | 0.997 |
| 19:3557308:G:T | N32K | 0.997 |
| 19:3547509:G:C | N292K | 0.996 |
| 19:3547509:G:T | N292K | 0.996 |
| 19:3547522:C:A | R288M | 0.996 |
| 19:3548247:G:T | A177D | 0.996 |
| 19:3550996:A:G | L166P | 0.996 |
| 19:3551044:A:G | L150P | 0.996 |
| 19:3551194:C:T | G100D | 0.996 |
| 19:3557106:C:G | G100R | 0.996 |
| 19:3557211:C:G | G65R | 0.996 |
| 19:3557289:A:G | W39R | 0.996 |
| 19:3557289:A:T | W39R | 0.996 |
| 19:3557306:T:A | D33V | 0.996 |
| 19:3557307:C:G | D33H | 0.996 |
| 19:3557322:C:G | G28R | 0.996 |
| 19:3546124:C:A | K413N | 0.995 |
| 19:3546124:C:G | K413N | 0.995 |
| 19:3546271:A:G | L393P | 0.995 |
| 19:3547326:G:C | S323R | 0.995 |
| 19:3547326:G:T | S323R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000194338 (19:3555253 C>T), RS1000536816 (19:3546863 T>C), RS1000618834 (19:3553326 G>A), RS1000803191 (19:3554195 G>A,T), RS1000861814 (19:3539048 C>A,G,T), RS1000865743 (19:3552763 A>G), RS1000999840 (19:3544553 TGCCCTCACCC>T), RS1001138191 (19:3544429 A>G), RS1001146108 (19:3557417 C>T), RS1001295935 (19:3541534 G>A), RS1001367325 (19:3542627 C>T), RS1001473630 (19:3551639 C>T), RS1001481416 (19:3542496 C>CA), RS1001506248 (19:3554462 A>G), RS1001572870 (19:3545885 T>G)
Disease associations
OMIM: gene MIM:617745 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007452_13 | Skin pigmentation | 2.000000e-10 |
| GCST008516_10 | Skin pigmentation (conditioned on rs1426654 and rs35397) | 6.000000e-09 |
| GCST008516_3 | Skin pigmentation (conditioned on rs1426654 and rs35397) | 2.000000e-08 |
| GCST010303_58 | Nevus count or cutaneous melanoma | 2.000000e-09 |
| GCST010304_9 | Cutaneous malignant melanoma | 4.000000e-10 |
| GCST90002283_7 | Facial pigmentation measurement (UV light) | 1.000000e-08 |
| GCST90002284_7 | Facial pigmentation measurement (polar light) | 2.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004632 | nevus count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| Acetaminophen | increases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Volatile Organic Compounds | affects expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4GB | HCT116-MFSD12-KO-c10 | Cancer cell line | Male |
| CVCL_D4GC | HCT116-MFSD12-KO-c9 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.