SFXN3
gene geneOn this page
Also known as SFX3SLC56A3
Summary
SFXN3 (sideroflexin 3, HGNC:16087) is a protein-coding gene on chromosome 10q24.31, encoding Sideroflexin-3 (Q9BWM7). Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway.
Enables L-serine transmembrane transporter activity. Involved in serine import into mitochondrion. Located in mitochondrion.
Source: NCBI Gene 81855 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 60 total
- Druggable target: yes
- MANE Select transcript:
NM_030971
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16087 |
| Approved symbol | SFXN3 |
| Name | sideroflexin 3 |
| Location | 10q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SFX3, SLC56A3 |
| Ensembl gene | ENSG00000107819 |
| Ensembl biotype | protein_coding |
| OMIM | 615571 |
| Entrez | 81855 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000393459, ENST00000465383, ENST00000466982, ENST00000470252, ENST00000487721, ENST00000489434, ENST00000698791, ENST00000698792, ENST00000896238, ENST00000896239, ENST00000896240, ENST00000896241, ENST00000896242, ENST00000896243, ENST00000896244, ENST00000954850, ENST00000954851, ENST00000954852, ENST00000954853, ENST00000954854, ENST00000954855
RefSeq mRNA: 10 — MANE Select: NM_030971
NM_001388027, NM_001388028, NM_001388029, NM_001388030, NM_001388031, NM_001388032, NM_001388033, NM_001388034, NM_001388035, NM_030971
CCDS: CCDS7508
Canonical transcript exons
ENST00000393459 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721559 | 101038643 | 101038692 |
| ENSE00001406456 | 101039489 | 101041241 |
| ENSE00001428431 | 101031234 | 101031534 |
| ENSE00003461712 | 101034692 | 101034855 |
| ENSE00003472062 | 101037382 | 101037431 |
| ENSE00003483735 | 101035497 | 101035667 |
| ENSE00003485813 | 101037076 | 101037203 |
| ENSE00003492264 | 101039175 | 101039222 |
| ENSE00003496935 | 101036003 | 101036101 |
| ENSE00003519470 | 101036486 | 101036561 |
| ENSE00003524033 | 101032314 | 101032482 |
| ENSE00003558491 | 101036723 | 101036808 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 98.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.9307 / max 145.0037, expressed in 1753 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106630 | 9.2900 | 1663 |
| 106635 | 9.1649 | 1572 |
| 106636 | 5.2887 | 1468 |
| 106634 | 1.2285 | 797 |
| 106632 | 0.4518 | 228 |
| 106633 | 0.4052 | 220 |
| 106631 | 0.0569 | 15 |
| 205970 | 0.0356 | 8 |
| 106637 | 0.0090 | 3 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar hemisphere | UBERON:0002245 | 98.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.18 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.10 | gold quality |
| cerebellum | UBERON:0002037 | 97.88 | gold quality |
| paraflocculus | UBERON:0005351 | 97.45 | gold quality |
| saphenous vein | UBERON:0007318 | 97.00 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.53 | gold quality |
| ascending aorta | UBERON:0001496 | 96.46 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.44 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.39 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.20 | gold quality |
| synovial joint | UBERON:0002217 | 96.14 | gold quality |
| right coronary artery | UBERON:0001625 | 96.04 | gold quality |
| vein | UBERON:0001638 | 95.86 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.83 | gold quality |
| aorta | UBERON:0000947 | 95.70 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.70 | gold quality |
| skin of leg | UBERON:0001511 | 95.68 | gold quality |
| nipple | UBERON:0002030 | 95.57 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.43 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.36 | gold quality |
| small intestine | UBERON:0002108 | 95.31 | gold quality |
| duodenum | UBERON:0002114 | 95.19 | gold quality |
| coronary artery | UBERON:0001621 | 95.17 | gold quality |
| popliteal artery | UBERON:0002250 | 95.15 | gold quality |
| tibial artery | UBERON:0007610 | 95.15 | gold quality |
| left coronary artery | UBERON:0001626 | 95.07 | gold quality |
| endocervix | UBERON:0000458 | 95.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.09 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
108 targeting SFXN3, 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-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
Literature-anchored findings (GeneRIF, showing 3)
- Non-coding RNA-mediated high expression of SFXN3 as a prognostic biomarker associated with paclitaxel resistance and immunosuppressive microenvironment in head and neck cancer. (PMID:36159813)
- SFXN3 is Associated with Poor Clinical Outcomes and Sensitivity to the Hypomethylating Therapy in Non-M3 Acute Myeloid Leukemia Patients. (PMID:37491851)
- Association of poly(rC)-binding protein-2 with sideroflexin-3 through TOM20 as an iron entry pathway to mitochondria. (PMID:38599240)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sfxn3 | ENSDARG00000057374 |
| mus_musculus | Sfxn3 | ENSMUSG00000025212 |
| rattus_norvegicus | Sfxn3 | ENSRNOG00000015442 |
| drosophila_melanogaster | Sfxn1-3 | FBGN0037239 |
| caenorhabditis_elegans | WBGENE00007080 | |
| caenorhabditis_elegans | WBGENE00008137 | |
| caenorhabditis_elegans | WBGENE00009513 | |
| caenorhabditis_elegans | WBGENE00011440 | |
| caenorhabditis_elegans | WBGENE00012402 |
Paralogs (4): SFXN5 (ENSG00000144040), SFXN2 (ENSG00000156398), SFXN1 (ENSG00000164466), SFXN4 (ENSG00000183605)
Protein
Protein identifiers
Sideroflexin-3 — Q9BWM7 (reviewed: Q9BWM7)
All UniProt accessions (4): Q9BWM7, A0A8V8TM72, A0A8V8TP06, S4R3N9
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway. Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors.
Subcellular location. Mitochondrion membrane.
Similarity. Belongs to the sideroflexin family.
RefSeq proteins (10): NP_001374956, NP_001374957, NP_001374958, NP_001374959, NP_001374960, NP_001374961, NP_001374962, NP_001374963, NP_001374964, NP_112233* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004686 | Mtc | Family |
Pfam: PF03820
Catalyzed reactions (Rhea), 1 shown:
- L-serine(in) = L-serine(out) (RHEA:35031)
UniProt features (6 total): transmembrane region 4, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWM7-F1 | 87.55 | 0.44 |
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 (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSPORT, RODRIGUES_NTN1_TARGETS_DN, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, ONKEN_UVEAL_MELANOMA_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, MARTINEZ_RB1_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_206, GOBP_ONE_CARBON_METABOLIC_PROCESS, GOBP_AMINO_ACID_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP
GO Biological Process (8): one-carbon metabolic process (GO:0006730), serine import into mitochondrion (GO:0140300), mitochondrial transmembrane transport (GO:1990542), monoatomic ion transport (GO:0006811), amino acid transport (GO:0006865), L-serine transport (GO:0015825), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)
GO Molecular Function (4): monoatomic ion transmembrane transporter activity (GO:0015075), L-serine transmembrane transporter activity (GO:0015194), transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transmembrane transport | 3 |
| transport | 3 |
| serine transport | 2 |
| small molecule metabolic process | 1 |
| amino acid transmembrane transport | 1 |
| import into the mitochondrion | 1 |
| carboxylic acid transmembrane transport | 1 |
| mitochondrial transport | 1 |
| L-amino acid transport | 1 |
| monoatomic ion transport | 1 |
| cellular process | 1 |
| transmembrane transporter activity | 1 |
| monoatomic ion transmembrane transport | 1 |
| L-amino acid transmembrane transporter activity | 1 |
| L-serine transport | 1 |
| transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
722 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SFXN3 | SLC25A38 | Q96DW6 | 472 |
| SFXN3 | ZNF85 | Q03923 | 456 |
| SFXN3 | CREG2 | Q8IUH2 | 454 |
| SFXN3 | ZNF708 | P17019 | 452 |
| SFXN3 | ZNF28 | P17035 | 450 |
| SFXN3 | ZNF572 | Q7Z3I7 | 450 |
| SFXN3 | SREK1IP1 | Q8N9Q2 | 450 |
| SFXN3 | PMP2 | P02689 | 414 |
| SFXN3 | GNG12 | Q9UBI6 | 414 |
| SFXN3 | LEMD3 | Q9Y2U8 | 404 |
| SFXN3 | PDZD7 | Q9H5P4 | 397 |
| SFXN3 | WIPF1 | O43516 | 393 |
| SFXN3 | P2RX1 | P51575 | 386 |
| SFXN3 | TLR4 | O00206 | 384 |
| SFXN3 | ZNF430 | Q9H8G1 | 383 |
IntAct
202 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SFXN3 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.740 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | XPO1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SFXN3 | LAMP2 | psi-mi:“MI:0914”(association) | 0.670 |
| SFXN3 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TOMM22 | XRCC3 | psi-mi:“MI:0914”(association) | 0.640 |
| TRIM16L | CCDC22 | psi-mi:“MI:0914”(association) | 0.640 |
| TRIM16L | SFXN3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| SFXN3 | EBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN3 | ZDHHC15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN3 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN3 | HSD17B11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP4 | SFXN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN3 | RETREG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN3 | TMEM51 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (201): SFXN3 (Affinity Capture-RNA), SFXN3 (Affinity Capture-RNA), SFXN3 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), ZMYM2 (Affinity Capture-MS), TARBP2 (Affinity Capture-MS), PJA1 (Affinity Capture-MS), SFXN3 (Affinity Capture-MS), SFXN3 (Co-fractionation), SFXN3 (Co-fractionation), SFXN3 (Two-hybrid), SFXN3 (Affinity Capture-MS)
ESM2 similar proteins: A0A067XMT5, A0A194XJW1, A0A1V6NWP3, A0A1W5T1Y3, A0A2I1C3V3, A0A411PQQ5, A0A455LLW7, A0A455M7R7, A0A4P8DK01, A0A7L9EYL3, A0A8F4NWB9, A0A8F4S8P5, A1L2F6, A4DA06, A4DA85, A6RH42, B0D4E6, B2ATB0, B8NI03, C0NIJ2, C6H7W0, D1Z4K7, D4D802, E3Q717, E4UPP6, I1RAL7, M1VWN5, M2WJF5, M3APK4, O13793, P0DOB2, P37295, P9WEV9, Q06089, Q0TVF9, Q0V6M5, Q12029, Q28GF8, Q2U4X9, Q4WQY6
Diamond homologs: A5A761, A6QP55, B2LU20, O13793, Q09201, Q12029, Q54NQ9, Q5E9M8, Q5EA43, Q5FC79, Q5RD16, Q63965, Q8CFD0, Q8TD22, Q91V61, Q925N0, Q925N2, Q96NB2, Q99JR1, Q9BWM7, Q9H9B4, Q9JHY2, Q9VN13, Q9VVW3, A8E7G5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1735 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:101032481:GC:G | donor_gain | 1.0000 |
| 10:101032483:G:GG | donor_gain | 1.0000 |
| 10:101034687:TGCA:T | acceptor_loss | 1.0000 |
| 10:101034689:CAGAA:C | acceptor_loss | 1.0000 |
| 10:101034690:A:AC | acceptor_loss | 1.0000 |
| 10:101034690:A:AG | acceptor_gain | 1.0000 |
| 10:101034691:G:GA | acceptor_gain | 1.0000 |
| 10:101034691:GA:G | acceptor_gain | 1.0000 |
| 10:101034691:GAA:G | acceptor_gain | 1.0000 |
| 10:101034691:GAAA:G | acceptor_gain | 1.0000 |
| 10:101034691:GAAAA:G | acceptor_gain | 1.0000 |
| 10:101034852:ACAG:A | donor_loss | 1.0000 |
| 10:101034856:G:C | donor_loss | 1.0000 |
| 10:101036483:CAG:C | acceptor_loss | 1.0000 |
| 10:101036484:A:AG | acceptor_gain | 1.0000 |
| 10:101036484:A:T | acceptor_loss | 1.0000 |
| 10:101036485:G:GA | acceptor_loss | 1.0000 |
| 10:101036485:G:GG | acceptor_gain | 1.0000 |
| 10:101036485:GGC:G | acceptor_gain | 1.0000 |
| 10:101036485:GGCA:G | acceptor_gain | 1.0000 |
| 10:101036558:CAAG:C | donor_loss | 1.0000 |
| 10:101036561:GGTAA:G | donor_loss | 1.0000 |
| 10:101036562:GTAA:G | donor_loss | 1.0000 |
| 10:101036563:T:A | donor_loss | 1.0000 |
| 10:101036806:GAG:G | donor_gain | 1.0000 |
| 10:101037071:TGCA:T | acceptor_loss | 1.0000 |
| 10:101037073:CA:C | acceptor_loss | 1.0000 |
| 10:101037073:CAGAG:C | acceptor_gain | 1.0000 |
| 10:101037074:A:AC | acceptor_loss | 1.0000 |
| 10:101037074:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2083 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:101036051:T:A | N127K | 0.999 |
| 10:101036051:T:G | N127K | 0.999 |
| 10:101036063:C:A | N131K | 0.999 |
| 10:101036063:C:G | N131K | 0.999 |
| 10:101034762:G:C | R23T | 0.998 |
| 10:101034763:A:C | R23S | 0.998 |
| 10:101034763:A:T | R23S | 0.998 |
| 10:101035632:C:A | N99K | 0.998 |
| 10:101035632:C:G | N99K | 0.998 |
| 10:101036039:T:A | N123K | 0.998 |
| 10:101036039:T:G | N123K | 0.998 |
| 10:101036788:C:A | N191K | 0.998 |
| 10:101036788:C:G | N191K | 0.998 |
| 10:101036802:G:C | R196T | 0.998 |
| 10:101036802:G:T | R196M | 0.998 |
| 10:101038685:G:C | G272R | 0.998 |
| 10:101038686:G:A | G272D | 0.998 |
| 10:101039576:G:C | K319N | 0.998 |
| 10:101039576:G:T | K319N | 0.998 |
| 10:101035606:C:A | R91S | 0.997 |
| 10:101036031:T:A | W121R | 0.997 |
| 10:101036031:T:C | W121R | 0.997 |
| 10:101036046:T:C | F126L | 0.997 |
| 10:101036048:C:A | F126L | 0.997 |
| 10:101036048:C:G | F126L | 0.997 |
| 10:101036803:G:C | R196S | 0.997 |
| 10:101036803:G:T | R196S | 0.997 |
| 10:101037177:G:C | R232T | 0.997 |
| 10:101037177:G:T | R232I | 0.997 |
| 10:101034773:T:C | F27L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1001168908 (10:101031719 C>G), RS1001229174 (10:101037802 C>A,T), RS1001946635 (10:101031099 C>G,T), RS1002030211 (10:101037054 C>T), RS1002212475 (10:101031968 C>A), RS1002702850 (10:101040236 C>A,G), RS1002802726 (10:101030476 T>C), RS1003303487 (10:101034336 A>C), RS1004085639 (10:101034255 G>A), RS1004135053 (10:101030832 C>G,T), RS1004207164 (10:101030499 C>A,G), RS1004208360 (10:101040430 T>C), RS1004358709 (10:101036708 A>C), RS1004573890 (10:101038950 A>G), RS1004792913 (10:101036283 T>C)
Disease associations
OMIM: gene MIM:615571 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006921_7 | Regular attendance at a pub or social club | 1.000000e-08 |
| GCST010002_298 | Refractive error | 3.000000e-22 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009592 | social interaction measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067194 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC56 Sideroflexins
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.87 | Kd | 1360 | nM | CHEMBL5653589 |
| 5.87 | ED50 | 1360 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149391: Binding affinity to human SFXN3 incubated for 45 mins by Kinobead based pull down assay | kd | 1.3596 | uM |
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Tobacco Smoke Pollution | increases expression, decreases expression | 3 |
| Cyclosporine | decreases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Leflunomide | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | affects cotreatment, affects expression, increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Diethylhexyl Phthalate | decreases expression, increases abundance, increases methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| alpha-pinene | affects cotreatment, affects expression, increases abundance | 1 |
| uranyl acetate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| titanium dioxide | decreases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, affects expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression, affects response to substance, increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652433 | Binding | Binding affinity to human SFXN3 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4HC | HCT116-SFXN3-KO-c4 | Cancer cell line | Male |
| CVCL_D4HD | HCT116-SFXN3-KO-c7 | Cancer cell line | Male |
| CVCL_TK83 | HAP1 SFXN3 (-) 1 | Cancer cell line | Male |
| CVCL_XS68 | HAP1 SFXN3 (-) 2 | Cancer cell line | Male |
| CVCL_XS69 | HAP1 SFXN3 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.