SFXN4
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Also known as SLC56A4
Summary
SFXN4 (sideroflexin 4, HGNC:16088) is a protein-coding gene on chromosome 10q26.11, encoding Sideroflexin-4 (Q6P4A7). Mitochondrial amino-acid transporter.
This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene.
Source: NCBI Gene 119559 — RefSeq curated summary.
At a glance
- Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 208 total — 6 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 20
- MANE Select transcript:
NM_213649
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16088 |
| Approved symbol | SFXN4 |
| Name | sideroflexin 4 |
| Location | 10q26.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SLC56A4 |
| Ensembl gene | ENSG00000183605 |
| Ensembl biotype | protein_coding |
| OMIM | 615564 |
| Entrez | 119559 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000355697, ENST00000369131, ENST00000419372, ENST00000461438, ENST00000462913, ENST00000466218, ENST00000484960, ENST00000490417, ENST00000955059
RefSeq mRNA: 1 — MANE Select: NM_213649
NM_213649
CCDS: CCDS7610
Canonical transcript exons
ENST00000355697 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001381725 | 119165537 | 119165714 |
| ENSE00003465290 | 119158009 | 119158062 |
| ENSE00003518084 | 119160915 | 119160969 |
| ENSE00003527894 | 119146236 | 119146353 |
| ENSE00003540082 | 119147775 | 119147860 |
| ENSE00003557921 | 119161055 | 119161081 |
| ENSE00003576053 | 119157871 | 119157927 |
| ENSE00003581833 | 119164131 | 119164196 |
| ENSE00003582633 | 119156678 | 119156756 |
| ENSE00003611443 | 119162340 | 119162414 |
| ENSE00003614459 | 119140767 | 119141319 |
| ENSE00003620095 | 119159728 | 119159753 |
| ENSE00003691536 | 119157668 | 119157733 |
| ENSE00003691862 | 119155062 | 119155177 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9300 / max 85.0433, expressed in 1775 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111677 | 9.7320 | 1754 |
| 111676 | 2.1752 | 970 |
| 111675 | 0.0228 | 13 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 96.99 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.43 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.96 | gold quality |
| body of pancreas | UBERON:0001150 | 94.68 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.42 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.35 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.30 | gold quality |
| right uterine tube | UBERON:0001302 | 93.95 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.72 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.60 | gold quality |
| deltoid | UBERON:0001476 | 93.55 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.49 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.49 | gold quality |
| muscle of leg | UBERON:0001383 | 93.44 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.17 | gold quality |
| sperm | CL:0000019 | 93.12 | gold quality |
| adrenal gland | UBERON:0002369 | 93.12 | gold quality |
| rectum | UBERON:0001052 | 93.05 | gold quality |
| adrenal cortex | UBERON:0001235 | 92.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.69 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.51 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.44 | gold quality |
| pancreas | UBERON:0001264 | 92.17 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 92.00 | gold quality |
| thyroid gland | UBERON:0002046 | 91.96 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.89 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 91.82 | gold quality |
| transverse colon | UBERON:0001157 | 91.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting SFXN4, 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-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-6771-3P | 98.20 | 66.53 | 971 |
| HSA-MIR-4797-3P | 97.48 | 67.14 | 989 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-1292-5P | 96.74 | 62.14 | 238 |
Literature-anchored findings (GeneRIF, showing 6)
- we isolated a cDNA encoding a novel sideroflexin protein (SFXN4), which showed 59% identity and 71% similarity to mouse sideroflexin4. (PMID:14756423)
- Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. (PMID:24119684)
- Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency. (PMID:31059822)
- Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes. (PMID:31873120)
- Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module. (PMID:35333655)
- Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments. (PMID:37786439)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sfxn4 | ENSDARG00000069832 |
| mus_musculus | Sfxn4 | ENSMUSG00000063698 |
| rattus_norvegicus | Sfxn4 | ENSRNOG00000036572 |
Paralogs (4): SFXN3 (ENSG00000107819), SFXN5 (ENSG00000144040), SFXN2 (ENSG00000156398), SFXN1 (ENSG00000164466)
Protein
Protein identifiers
Sideroflexin-4 — Q6P4A7 (reviewed: Q6P4A7)
Alternative names: Breast cancer resistance marker 1
All UniProt accessions (3): B1AMV7, B1AMV8, Q6P4A7
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial amino-acid transporter. Does not act as a serine transporter: not able to mediate transport of serine into mitochondria.
Subcellular location. Mitochondrion inner membrane.
Disease relevance. Combined oxidative phosphorylation deficiency 18 (COXPD18) [MIM:615578] An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the sideroflexin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P4A7-1 | 1 | yes |
| Q6P4A7-2 | 2 | |
| Q6P4A7-3 | 3 |
RefSeq proteins (1): NP_998814* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004686 | Mtc | Family |
Pfam: PF03820
UniProt features (12 total): transmembrane region 5, splice variant 3, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P4A7-F1 | 85.33 | 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): 2, 197
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6799198 | Complex I biogenesis |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-611105 | Respiratory electron transport |
MSigDB gene sets: 139 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, WWTAAGGC_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSPORT, CEBPB_01, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_AMINO_ACID_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_ORGANELLE_INNER_MEMBRANE, VECCHI_GASTRIC_CANCER_EARLY_UP, GOMF_TRANSPORTER_ACTIVITY
GO Biological Process (5): amino acid transport (GO:0006865), mitochondrial transmembrane transport (GO:1990542), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)
GO Molecular Function (2): monoatomic ion transmembrane transporter activity (GO:0015075), transmembrane transporter activity (GO:0022857)
GO Cellular Component (5): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Respiratory electron transport | 1 |
| Metabolism | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 3 |
| transmembrane transport | 3 |
| cellular anatomical structure | 2 |
| mitochondrial transport | 1 |
| monoatomic ion transport | 1 |
| cellular process | 1 |
| transmembrane transporter activity | 1 |
| monoatomic ion transmembrane transport | 1 |
| transporter activity | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SFXN4 | PRADC1 | Q9BSG0 | 568 |
| SFXN4 | PRSS37 | A4D1T9 | 492 |
| SFXN4 | CCDC18 | Q5T9S5 | 471 |
| SFXN4 | COL24A1 | Q17RW2 | 438 |
| SFXN4 | FECH | P22830 | 423 |
| SFXN4 | PSME4 | Q14997 | 421 |
| SFXN4 | GLRX5 | Q86SX6 | 420 |
| SFXN4 | GNAL | P38405 | 418 |
| SFXN4 | EBF2 | Q9HAK2 | 416 |
| SFXN4 | ZNF490 | Q9ULM2 | 413 |
| SFXN4 | CSDE1 | O75534 | 413 |
| SFXN4 | NRN1 | Q9NPD7 | 413 |
| SFXN4 | MAPK8IP3 | Q9UPT6 | 410 |
| SFXN4 | NANOS2 | P60321 | 406 |
| SFXN4 | NEGR1 | Q7Z3B1 | 405 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| COX15 | SLC25A3 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBA1A | TUBAL3 | psi-mi:“MI:0914”(association) | 0.420 |
| FLT4 | ILVBL | psi-mi:“MI:0914”(association) | 0.420 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| NMES1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFA4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAIP1 | COQ9 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ9 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| BABAM1 | PYCR3 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK4 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (118): SFXN4 (Affinity Capture-RNA), SFXN4 (Affinity Capture-RNA), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS), SFXN4 (Affinity Capture-MS)
ESM2 similar proteins: A5A761, A6QP55, A8E7G5, B2LU20, B3M6C8, B4H6M2, B4HKS2, B4J252, B4LE89, B4QNU8, B6IJ52, O13793, P00425, P25710, P38857, P53311, P81928, Q09201, Q12029, Q16FT5, Q2LZH7, Q32L86, Q3T0M2, Q54NQ9, Q5E9M8, Q5EA43, Q5FC79, Q5HZA9, Q5RD16, Q63965, Q6BKZ1, Q6CFW6, Q6CXR8, Q6FJJ0, Q6P4A7, Q759E9, Q91V61, Q925N1, Q925N2, Q95QD1
Diamond homologs: A8E7G5, Q3T0M2, Q54NQ9, Q6P4A7, Q8CFD0, Q8TD22, Q925N0, Q925N1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
208 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 5 |
| Uncertain significance | 38 |
| Likely benign | 66 |
| Benign | 59 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1323582 | NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter) | Pathogenic |
| 2175492 | NM_213649.2(SFXN4):c.668del (p.Lys223fs) | Pathogenic |
| 488593 | NM_213649.2(SFXN4):c.414+1G>A | Pathogenic |
| 638327 | NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) | Pathogenic |
| 92098 | NM_213649.2(SFXN4):c.233del (p.Pro78fs) | Pathogenic |
| 92099 | NM_213649.2(SFXN4):c.739dup (p.Arg247fs) | Pathogenic |
| 2076813 | NM_213649.2(SFXN4):c.819-1G>C | Likely pathogenic |
| 2182106 | NM_213649.2(SFXN4):c.818+2T>A | Likely pathogenic |
| 2427788 | NC_000010.10:g.(?120905748)(120905865_?)dup | Likely pathogenic |
| 3381959 | NM_213649.2(SFXN4):c.823C>T (p.Gln275Ter) | Likely pathogenic |
| 3767158 | NM_213649.2(SFXN4):c.361-2A>T | Likely pathogenic |
SpliceAI
1839 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:119155056:TCTTA:T | donor_loss | 1.0000 |
| 10:119155057:CTTAC:C | donor_loss | 1.0000 |
| 10:119155058:TTAC:T | donor_loss | 1.0000 |
| 10:119155059:TAC:T | donor_loss | 1.0000 |
| 10:119155060:ACC:A | donor_loss | 1.0000 |
| 10:119155061:C:CG | donor_loss | 1.0000 |
| 10:119156668:T:TA | donor_gain | 1.0000 |
| 10:119156673:CTCA:C | donor_loss | 1.0000 |
| 10:119156674:TCA:T | donor_loss | 1.0000 |
| 10:119156675:CACC:C | donor_loss | 1.0000 |
| 10:119156676:ACC:A | donor_loss | 1.0000 |
| 10:119156752:ATTAC:A | acceptor_gain | 1.0000 |
| 10:119156753:TTAC:T | acceptor_gain | 1.0000 |
| 10:119156754:TAC:T | acceptor_gain | 1.0000 |
| 10:119156755:AC:A | acceptor_gain | 1.0000 |
| 10:119156756:CC:C | acceptor_gain | 1.0000 |
| 10:119156757:C:CC | acceptor_gain | 1.0000 |
| 10:119157617:T:TA | donor_gain | 1.0000 |
| 10:119157666:A:AC | donor_gain | 1.0000 |
| 10:119157666:ACT:A | donor_gain | 1.0000 |
| 10:119157667:C:CG | donor_gain | 1.0000 |
| 10:119157667:CT:C | donor_gain | 1.0000 |
| 10:119157667:CTC:C | donor_gain | 1.0000 |
| 10:119157869:A:AC | donor_gain | 1.0000 |
| 10:119157870:C:CA | donor_gain | 1.0000 |
| 10:119157870:CGTAA:C | donor_gain | 1.0000 |
| 10:119157874:A:C | donor_gain | 1.0000 |
| 10:119160911:TCA:T | donor_loss | 1.0000 |
| 10:119160912:CAC:C | donor_loss | 1.0000 |
| 10:119160914:C:CA | donor_loss | 1.0000 |
AlphaMissense
2190 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:119146257:A:C | S305R | 0.989 |
| 10:119146257:A:T | S305R | 0.989 |
| 10:119146259:T:G | S305R | 0.989 |
| 10:119155072:G:T | A241D | 0.980 |
| 10:119155114:A:T | V227D | 0.980 |
| 10:119155070:C:A | G242W | 0.979 |
| 10:119157898:G:C | F148L | 0.972 |
| 10:119157898:G:T | F148L | 0.972 |
| 10:119157900:A:G | F148L | 0.972 |
| 10:119164172:A:G | W46R | 0.968 |
| 10:119164172:A:T | W46R | 0.968 |
| 10:119155144:C:G | R217P | 0.966 |
| 10:119161058:A:C | S92R | 0.965 |
| 10:119161058:A:T | S92R | 0.965 |
| 10:119161060:T:G | S92R | 0.965 |
| 10:119155081:G:A | S238F | 0.959 |
| 10:119155167:A:C | S209R | 0.959 |
| 10:119155167:A:T | S209R | 0.959 |
| 10:119155169:T:G | S209R | 0.959 |
| 10:119141251:T:A | R335S | 0.957 |
| 10:119141251:T:G | R335S | 0.957 |
| 10:119155082:A:G | S238P | 0.953 |
| 10:119160923:C:G | R109P | 0.951 |
| 10:119141250:C:A | G336W | 0.946 |
| 10:119141259:A:C | Y333D | 0.941 |
| 10:119147834:T:A | R253S | 0.941 |
| 10:119147834:T:G | R253S | 0.941 |
| 10:119146251:A:C | F307L | 0.939 |
| 10:119146251:A:T | F307L | 0.939 |
| 10:119146253:A:G | F307L | 0.939 |
dbSNP variants (sampled 300 via entrez): RS1000105689 (10:119141702 C>T), RS1000170489 (10:119158446 C>T), RS1000300559 (10:119146981 A>C), RS1000412845 (10:119165183 C>A,G,T), RS1000461166 (10:119157382 G>A), RS1000492032 (10:119156993 G>A), RS1000539777 (10:119141545 C>A,G), RS1000777530 (10:119152438 C>G), RS1000798706 (10:119165974 G>C), RS1000955792 (10:119153357 C>T), RS1001026942 (10:119163275 G>A,T), RS1001029439 (10:119153077 C>T), RS1001214233 (10:119150802 A>T), RS1001239714 (10:119152569 C>T), RS1001301939 (10:119141800 G>A)
Disease associations
OMIM: gene MIM:615564 | disease phenotypes: MIM:615578
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Definitive | AR |
Mondo (1): growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome (MONDO:0014261)
Orphanet (1): Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome (Orphanet:391348)
HPO phenotypes
20 total (20 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000505 | Visual impairment |
| HP:0000750 | Delayed speech and language development |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001310 | Dysmetria |
| HP:0001337 | Tremor |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001562 | Oligohydramnios |
| HP:0001972 | Macrocytic anemia |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0003128 | Lactic acidosis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003577 | Congenital onset |
| HP:0004821 | Hypersegmentation of neutrophil nuclei |
| HP:0009046 | Difficulty running |
| HP:0010862 | Delayed fine motor development |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0012120 | Methylmalonic aciduria |
| HP:0040014 | Increased mitochondrial number |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004860_17 | Alcoholic chronic pancreatitis | 6.000000e-06 |
| GCST011176_5 | Stroke | 1.000000e-07 |
| GCST90020029_302 | Waist circumference adjusted for body mass index | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2275112 | EIF3A, SFXN4 | 0.00 | 0 | ||
| rs11198804 | EIF3A, SFXN4 | 0.00 | 0 |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 5 |
| Acetaminophen | decreases expression | 4 |
| Valproic Acid | decreases expression, increases expression, increases methylation, affects expression | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Hydrogen Peroxide | affects expression, decreases expression | 2 |
| Plant Extracts | affects cotreatment, increases expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| Particulate Matter | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| caffeic acid | decreases expression, increases reaction | 1 |
| isobutyl alcohol | increases abundance, affects cotreatment, decreases expression | 1 |
| 4-methoxycinnamate methyl ester | decreases expression, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| bisphenol S | affects expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4HE | HCT116-SFXN4-KO-c34 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcoholic pancreatitis, growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, stroke disorder