SLC25A37
gene geneOn this page
Also known as MSCPMFRNMFRN1HT015
Summary
SLC25A37 (solute carrier family 25 member 37, HGNC:29786) is a protein-coding gene on chromosome 8p21.2, encoding Mitoferrin-1 (Q9NYZ2). Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis.
SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).
Source: NCBI Gene 51312 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_016612
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29786 |
| Approved symbol | SLC25A37 |
| Name | solute carrier family 25 member 37 |
| Location | 8p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MSCP, MFRN, MFRN1, HT015 |
| Ensembl gene | ENSG00000147454 |
| Ensembl biotype | protein_coding |
| OMIM | 610387 |
| Entrez | 51312 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 5 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding
ENST00000290075, ENST00000417331, ENST00000517923, ENST00000518881, ENST00000519192, ENST00000519973, ENST00000520654, ENST00000520949, ENST00000521637, ENST00000522164, ENST00000523883, ENST00000523930
RefSeq mRNA: 4 — MANE Select: NM_016612
NM_001317812, NM_001317813, NM_001317814, NM_016612
CCDS: CCDS47828
Canonical transcript exons
ENST00000519973 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001109011 | 23566108 | 23566336 |
| ENSE00002099106 | 23528956 | 23529212 |
| ENSE00002106908 | 23571335 | 23575463 |
| ENSE00003527106 | 23568322 | 23568378 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 99.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 164.1648 / max 29079.7212, expressed in 1823 samples.
FANTOM5 promoters (23 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 87909 | 137.6266 | 1811 |
| 87906 | 10.5509 | 1744 |
| 87931 | 9.0088 | 1367 |
| 87910 | 1.3956 | 570 |
| 87911 | 1.1829 | 524 |
| 87923 | 0.5089 | 114 |
| 87913 | 0.4607 | 86 |
| 87908 | 0.3894 | 113 |
| 87914 | 0.3833 | 61 |
| 87924 | 0.3546 | 90 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 99.65 | gold quality |
| blood | UBERON:0000178 | 99.64 | gold quality |
| bone marrow | UBERON:0002371 | 98.16 | gold quality |
| bone element | UBERON:0001474 | 98.03 | gold quality |
| monocyte | CL:0000576 | 97.65 | gold quality |
| mononuclear cell | CL:0000842 | 97.57 | gold quality |
| vena cava | UBERON:0004087 | 97.51 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 97.27 | gold quality |
| sperm | CL:0000019 | 97.14 | gold quality |
| leukocyte | CL:0000738 | 97.14 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.04 | gold quality |
| duodenum | UBERON:0002114 | 96.98 | gold quality |
| pericardium | UBERON:0002407 | 96.70 | gold quality |
| pylorus | UBERON:0001166 | 96.46 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.44 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.43 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.28 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.02 | gold quality |
| jejunum | UBERON:0002115 | 95.84 | gold quality |
| right lung | UBERON:0002167 | 95.82 | gold quality |
| spleen | UBERON:0002106 | 95.73 | gold quality |
| adrenal gland | UBERON:0002369 | 95.55 | gold quality |
| bone marrow cell | CL:0002092 | 95.51 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.19 | gold quality |
| trachea | UBERON:0003126 | 95.15 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.12 | gold quality |
| superior surface of tongue | UBERON:0007371 | 95.04 | gold quality |
| nipple | UBERON:0002030 | 95.02 | gold quality |
Single-cell (SCXA)
Detected in 33 experiment(s), a significant marker in 30.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-149689 | yes | 7856.95 |
| E-GEOD-150728 | yes | 4250.33 |
| E-CURD-122 | yes | 3930.23 |
| E-MTAB-9221 | yes | 3787.89 |
| E-MTAB-10042 | yes | 3541.99 |
| E-CURD-112 | yes | 3417.36 |
| E-MTAB-8205 | yes | 2605.52 |
| E-MTAB-7407 | yes | 2201.16 |
| E-HCAD-9 | yes | 1968.99 |
| E-CURD-55 | yes | 1533.97 |
| E-HCAD-4 | yes | 1471.45 |
| E-HCAD-15 | yes | 1447.70 |
| E-CURD-120 | yes | 1423.13 |
| E-MTAB-8894 | yes | 1226.61 |
| E-MTAB-6653 | yes | 1086.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA1
miRNA regulators (miRDB)
142 targeting SLC25A37, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
Literature-anchored findings (GeneRIF, showing 9)
- hypoxia induces the expression of mitoferrin mRNAs through separate mechanisms in erythroid cells (PMID:19187226)
- Data show that abnormal MFRN1 expression can contribute to erythropoietic protoporphyria phenotype in some patients, probably by causing a reduction in FECH activity. (PMID:21627978)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- RNA-sequencing and Reverse transcriptase PCR showed higher expression of a specific isoform of SLC25A37 in SF3B1-mutant patients, a crucial importer of Fe(2+) into the mitochondria (PMID:24854990)
- The findings of this study implicate that the SCL25A37 is a major depressive disorder susceptibility gene whose expression may influence major depressive disorder risk. (PMID:27643475)
- Our data show that there is a metabolic link between the activity ferrochelatase and levels of MFRN1 mRNA. We examined the correlation between ferrochelatase activity and MFRN1 mRNA in cell lines established from patients with the classical protoporphyria. (PMID:30391163)
- Studied iron metabolism in polycythemia vera and essential thrombocytosis using serum levels of hepcidin, GDF15, and mitoferrin-1. (PMID:30761871)
- MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma. (PMID:32810522)
- Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration. (PMID:33686958)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc25a37 | ENSDARG00000073743 |
| mus_musculus | Slc25a37 | ENSMUSG00000034248 |
| rattus_norvegicus | Slc25a37 | ENSRNOG00000015495 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Mitoferrin-1 — Q9NYZ2 (reviewed: Q9NYZ2)
Alternative names: Mitochondrial iron transporter 1, Mitochondrial solute carrier protein, Solute carrier family 25 member 37
All UniProt accessions (3): Q9NYZ2, F8W9Q7, H0YAT5
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis.
Subunit / interactions. Interacts with ACB10; this interaction stabilizes SLC25A37 and enhances the function of SLC25A37 to import mitochondrial iron during erythroid differentiation.
Subcellular location. Mitochondrion inner membrane.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NYZ2-1 | 1 | yes |
| Q9NYZ2-2 | 2 | |
| Q9NYZ2-4 | 4 |
RefSeq proteins (4): NP_001304741, NP_001304742, NP_001304743, NP_057696* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
Pfam: PF00153
Catalyzed reactions (Rhea), 1 shown:
- Fe(2+)(in) = Fe(2+)(out) (RHEA:28486)
UniProt features (17 total): transmembrane region 6, splice variant 3, repeat 3, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYZ2-F1 | 77.81 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1362409 | Mitochondrial iron-sulfur cluster biogenesis |
| R-HSA-1430728 | Metabolism |
MSigDB gene sets: 285 (showing top):
TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_HEMOGLOBIN_METABOLIC_PROCESS, RRAGTTGT_UNKNOWN, GOBP_TRANSITION_METAL_ION_TRANSPORT, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GGGTGGRR_PAX4_03, GOBP_IRON_ION_TRANSPORT, MODULE_503, GOBP_MONOATOMIC_CATION_TRANSPORT, CREB_Q4, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, chr8p21, FOSTER_TOLERANT_MACROPHAGE_DN, MODULE_195, YANG_BREAST_CANCER_ESR1_DN
GO Biological Process (4): positive regulation of hemoglobin biosynthetic process (GO:0046985), iron import into the mitochondrion (GO:0048250), monoatomic ion transport (GO:0006811), iron ion transport (GO:0006826)
GO Molecular Function (3): iron ion transmembrane transporter activity (GO:0005381), ferrous iron transmembrane transporter activity (GO:0015093), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| iron ion transmembrane transport | 2 |
| positive regulation of macromolecule biosynthetic process | 1 |
| hemoglobin biosynthetic process | 1 |
| regulation of hemoglobin biosynthetic process | 1 |
| positive regulation of protein metabolic process | 1 |
| intercellular transport | 1 |
| transport | 1 |
| transition metal ion transport | 1 |
| transition metal ion transmembrane transporter activity | 1 |
| iron ion transmembrane transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1036 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A37 | ABCB10 | Q9NRK6 | 999 |
| SLC25A37 | FECH | P22830 | 985 |
| SLC25A37 | ABCB7 | O75027 | 882 |
| SLC25A37 | FXN | Q16595 | 774 |
| SLC25A37 | ABCB8 | Q9NUT2 | 769 |
| SLC25A37 | ZHX2 | Q9Y6X8 | 763 |
| SLC25A37 | CPOX | P36551 | 719 |
| SLC25A37 | SLC11A2 | P49281 | 698 |
| SLC25A37 | TFRC | P02786 | 695 |
| SLC25A37 | HBA1 | P01922 | 693 |
| SLC25A37 | ALAS2 | P22557 | 676 |
| SLC25A37 | A0A0J9YYA3 | A0A0J9YYA3 | 668 |
| SLC25A37 | ISCU | Q9H1K1 | 651 |
| SLC25A37 | NFS1 | Q9Y697 | 636 |
| SLC25A37 | ACO1 | P21399 | 633 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC25A37 | PNMA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC25A37 | RAB30 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A37 | PNMA3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (11): SLC25A37 (Affinity Capture-RNA), PNMA3 (Two-hybrid), SLC25A37 (Negative Genetic), SLC25A37 (Affinity Capture-RNA), SLC25A28 (Negative Genetic), SLC25A37 (Affinity Capture-RNA), RAB30 (Affinity Capture-MS), TMEM181 (Affinity Capture-MS), TTYH3 (Affinity Capture-MS), SLC25A37 (Affinity Capture-RNA), SLC25A37 (Affinity Capture-RNA)
ESM2 similar proteins: A0JN87, A6QR09, F1R4U0, F1RFX9, O22261, O43772, O43808, O70579, O77792, O95258, O97562, O97649, P55851, P55916, P56499, P56501, P70406, P97521, Q08DK4, Q287T7, Q3SZI5, Q4V9P0, Q5R5A8, Q5RD81, Q5RFB7, Q5U680, Q5ZKP7, Q641C8, Q66H23, Q6DG32, Q6GLA2, Q6IZB5, Q70HW3, Q8BMG8, Q8HXY2, Q8R0Z5, Q920G8, Q922G0, Q95J75, Q96A46
Diamond homologs: A0A0U2IR85, A0A3G9HRV8, A2CEQ0, A6RAY2, A6SL61, A7ER02, B0DK57, B8ZHC9, F1R4U0, G3YC86, G3YD89, G3YFS7, O13844, O94502, P32089, P33303, P34519, P38152, P53007, P55851, P56500, P70406, P79110, Q07534, Q10442, Q287T7, Q2UCW8, Q3SZI5, Q3ZBJ8, Q59KC4, Q5AVW1, Q5R5A8, Q66H23, Q68F18, Q6BH02, Q6C107, Q6C6I3, Q6GLJ0, Q6PGY3, Q7XA87
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1527 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:23566095:T:A | acceptor_gain | 1.0000 |
| 8:23566099:C:A | acceptor_gain | 1.0000 |
| 8:23566287:GACTT:G | donor_gain | 1.0000 |
| 8:23571243:T:TA | acceptor_gain | 1.0000 |
| 8:23529208:TGAAG:T | donor_loss | 0.9900 |
| 8:23529210:AAG:A | donor_gain | 0.9900 |
| 8:23529211:AGGT:A | donor_loss | 0.9900 |
| 8:23529212:GGTGA:G | donor_loss | 0.9900 |
| 8:23529213:G:GC | donor_loss | 0.9900 |
| 8:23529214:T:A | donor_loss | 0.9900 |
| 8:23555456:G:T | donor_gain | 0.9900 |
| 8:23566106:A:AG | acceptor_gain | 0.9900 |
| 8:23566107:G:GA | acceptor_gain | 0.9900 |
| 8:23566107:GACAC:G | acceptor_gain | 0.9900 |
| 8:23566316:G:GT | donor_gain | 0.9900 |
| 8:23566317:A:T | donor_gain | 0.9900 |
| 8:23571242:AT:A | acceptor_gain | 0.9900 |
| 8:23571243:T:G | acceptor_gain | 0.9900 |
| 8:23571244:G:A | acceptor_gain | 0.9900 |
| 8:23571248:T:TA | acceptor_gain | 0.9900 |
| 8:23571858:G:GT | donor_gain | 0.9900 |
| 8:23529187:TC:T | donor_gain | 0.9800 |
| 8:23529208:TGA:T | donor_gain | 0.9800 |
| 8:23555485:GAGGC:G | donor_gain | 0.9800 |
| 8:23555488:GC:G | donor_gain | 0.9800 |
| 8:23562994:T:TA | donor_gain | 0.9800 |
| 8:23566104:CCA:C | acceptor_loss | 0.9800 |
| 8:23566105:CA:C | acceptor_loss | 0.9800 |
| 8:23566106:AG:A | acceptor_loss | 0.9800 |
| 8:23566107:G:GC | acceptor_loss | 0.9800 |
AlphaMissense
2219 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:23566261:T:C | F122L | 1.000 |
| 8:23566263:T:A | F122L | 1.000 |
| 8:23566263:T:G | F122L | 1.000 |
| 8:23571779:C:A | A314D | 1.000 |
| 8:23571787:T:A | W317R | 1.000 |
| 8:23571787:T:C | W317R | 1.000 |
| 8:23529153:G:C | A51P | 0.999 |
| 8:23529154:C:A | A51E | 0.999 |
| 8:23529156:G:A | G52R | 0.999 |
| 8:23529156:G:C | G52R | 0.999 |
| 8:23529157:G:A | G52E | 0.999 |
| 8:23529159:G:C | A53P | 0.999 |
| 8:23529165:G:C | A55P | 0.999 |
| 8:23529166:C:A | A55D | 0.999 |
| 8:23529169:G:A | G56E | 0.999 |
| 8:23529201:G:C | D67H | 0.999 |
| 8:23529212:G:C | K70N | 0.999 |
| 8:23529212:G:T | K70N | 0.999 |
| 8:23566112:G:C | R72P | 0.999 |
| 8:23566119:G:C | Q74H | 0.999 |
| 8:23566119:G:T | Q74H | 0.999 |
| 8:23566213:G:C | G106R | 0.999 |
| 8:23566247:C:A | A117D | 0.999 |
| 8:23566252:G:C | A119P | 0.999 |
| 8:23566253:C:A | A119D | 0.999 |
| 8:23566262:T:C | F122S | 0.999 |
| 8:23568328:C:A | A149D | 0.999 |
| 8:23568331:G:A | G150E | 0.999 |
| 8:23568333:A:C | S151R | 0.999 |
| 8:23568335:T:A | S151R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000106566 (8:23575951 C>T), RS1000169121 (8:23565181 T>G), RS1000212422 (8:23538881 A>C,G), RS1000221708 (8:23528955 C>A,G,T), RS1000311635 (8:23570745 T>C), RS1000495193 (8:23530374 G>A,T), RS1000576252 (8:23550204 C>A), RS1000585658 (8:23572287 G>C), RS1000603903 (8:23559570 C>A,T), RS1000611347 (8:23536005 G>A), RS1000673851 (8:23560679 G>A), RS1000683517 (8:23570970 T>G), RS1000748371 (8:23559569 A>G), RS1000770276 (8:23528554 A>G,T), RS1000788049 (8:23555550 A>G)
Disease associations
OMIM: gene MIM:610387 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004067_104 | Hip circumference adjusted for BMI | 6.000000e-09 |
| GCST004067_35 | Hip circumference adjusted for BMI | 5.000000e-07 |
| GCST004094_12 | Prostate-specific antigen levels (conditioned on lead SNPs) | 1.000000e-15 |
| GCST004267_4 | Blood osmolality (transformed sodium) | 5.000000e-06 |
| GCST004601_105 | Red blood cell count | 4.000000e-13 |
| GCST004602_65 | Mean corpuscular volume | 8.000000e-18 |
| GCST004605_37 | Mean corpuscular hemoglobin concentration | 2.000000e-16 |
| GCST004619_21 | Reticulocyte fraction of red cells | 3.000000e-10 |
| GCST004621_120 | Red cell distribution width | 1.000000e-18 |
| GCST004622_11 | Reticulocyte count | 6.000000e-09 |
| GCST004863_18 | Mosquito bite size | 3.000000e-06 |
| GCST005689_3 | Major depressive disorder (unexposed to adversity) | 7.000000e-09 |
| GCST005691_1 | Major depressive disorder | 2.000000e-06 |
| GCST005957_7 | Waist-to-hip ratio adjusted for BMI (age <50) | 3.000000e-06 |
| GCST005958_10 | Waist-to-hip ratio adjusted for BMI (age >50) | 3.000000e-08 |
| GCST005962_21 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 5.000000e-11 |
| GCST005992_13 | Mean corpuscular hemoglobin concentration | 8.000000e-10 |
| GCST005993_41 | Mean corpuscular hemoglobin | 1.000000e-10 |
| GCST006804_123 | Red cell distribution width | 6.000000e-15 |
| GCST006899_3 | Thyroid stimulating hormone levels | 1.000000e-10 |
| GCST007094_34 | Diastolic blood pressure | 7.000000e-11 |
| GCST007294_137 | Body fat distribution (trunk fat ratio) | 3.000000e-08 |
| GCST007295_129 | Body fat distribution (leg fat ratio) | 6.000000e-08 |
| GCST007932_53 | Medication use (thyroid preparations) | 2.000000e-08 |
| GCST008363_65 | Offspring birth weight | 4.000000e-09 |
| GCST008839_157 | Height | 4.000000e-10 |
| GCST010653_31 | Thyroid stimulating hormone levels | 1.000000e-21 |
| GCST011369_14 | Iron status biomarkers (ferritin levels) | 3.000000e-11 |
| GCST012227_142 | Hip circumference adjusted for BMI | 3.000000e-08 |
| GCST90002390_599 | Mean corpuscular hemoglobin | 1.000000e-34 |
EFO canonical traits (17, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004305 | erythrocyte count |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004341 | body fat distribution |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0004459 | ferritin measurement |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC25 mitochondrial iron transporters subfamily
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects cotreatment, increases expression, affects methylation, decreases expression | 4 |
| sodium arsenite | affects expression, decreases expression | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Cocaine | increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| Asbestos, Crocidolite | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CD 437 | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| ICG 001 | affects expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
6 cell lines: 4 cancer cell line, 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4E0 | HEK-SLC25A37-KO-c3 | Transformed cell line | Female |
| CVCL_D4E1 | HEK-SLC25A37-KO-c6 | Transformed cell line | Female |
| CVCL_D4K1 | HCT116-SLC25A37-KO-c2 | Cancer cell line | Male |
| CVCL_D4K2 | HCT116-SLC25A37-KO-c6 | Cancer cell line | Male |
| CVCL_TM38 | HAP1 SLC25A37 (-) 1 | Cancer cell line | Male |
| CVCL_TM39 | HAP1 SLC25A37 (-) 2 | 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.