CYB5R4
gene geneOn this page
Also known as b5+b5RdJ676J13.1
Summary
CYB5R4 (cytochrome b5 reductase 4, HGNC:20147) is a protein-coding gene on chromosome 6q14.2, encoding Cytochrome b5 reductase 4 (Q7L1T6). NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. It is a selective cancer dependency (DepMap: 18.5% of cell lines).
NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).
Source: NCBI Gene 51167 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 104 total
- Cancer dependency (DepMap): dependent in 18.5% of screened cell lines
- MANE Select transcript:
NM_016230
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20147 |
| Approved symbol | CYB5R4 |
| Name | cytochrome b5 reductase 4 |
| Location | 6q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | b5+b5R, dJ676J13.1 |
| Ensembl gene | ENSG00000065615 |
| Ensembl biotype | protein_coding |
| OMIM | 608343 |
| Entrez | 51167 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000369679, ENST00000369681, ENST00000479164, ENST00000866276, ENST00000866277, ENST00000866278, ENST00000919968, ENST00000919969, ENST00000942763, ENST00000942764, ENST00000942765, ENST00000942766, ENST00000942767, ENST00000942768, ENST00000942769, ENST00000942770
RefSeq mRNA: 2 — MANE Select: NM_016230
NM_001400774, NM_016230
CCDS: CCDS5000
Canonical transcript exons
ENST00000369681 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000760138 | 83909009 | 83909090 |
| ENSE00000760141 | 83919397 | 83919454 |
| ENSE00000760143 | 83924470 | 83924592 |
| ENSE00000798096 | 83893522 | 83893622 |
| ENSE00000798097 | 83918005 | 83918065 |
| ENSE00000798098 | 83921082 | 83921175 |
| ENSE00000798099 | 83955298 | 83955462 |
| ENSE00001012773 | 83922438 | 83922470 |
| ENSE00001012778 | 83914416 | 83914448 |
| ENSE00001450628 | 83959824 | 83967423 |
| ENSE00001513536 | 83859689 | 83859857 |
| ENSE00003466323 | 83864175 | 83864328 |
| ENSE00003570228 | 83936224 | 83936376 |
| ENSE00003600155 | 83940515 | 83940601 |
| ENSE00003604818 | 83940056 | 83940206 |
| ENSE00003684388 | 83934595 | 83934735 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 96.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1148 / max 1502.6725, expressed in 1809 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68781 | 28.9736 | 1809 |
| 68782 | 0.1412 | 41 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 96.23 | gold quality |
| mononuclear cell | CL:0000842 | 95.89 | gold quality |
| leukocyte | CL:0000738 | 95.73 | gold quality |
| sperm | CL:0000019 | 95.04 | gold quality |
| blood | UBERON:0000178 | 93.04 | gold quality |
| male germ cell | CL:0000015 | 92.56 | gold quality |
| bone marrow | UBERON:0002371 | 90.34 | gold quality |
| granulocyte | CL:0000094 | 90.20 | gold quality |
| bone marrow cell | CL:0002092 | 89.21 | gold quality |
| right testis | UBERON:0004534 | 89.05 | gold quality |
| left testis | UBERON:0004533 | 88.70 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.59 | gold quality |
| testis | UBERON:0000473 | 86.84 | gold quality |
| rectum | UBERON:0001052 | 85.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.12 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.08 | gold quality |
| lymph node | UBERON:0000029 | 83.60 | gold quality |
| popliteal artery | UBERON:0002250 | 83.27 | gold quality |
| tibial artery | UBERON:0007610 | 83.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.22 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 82.75 | gold quality |
| cortical plate | UBERON:0005343 | 82.75 | gold quality |
| right lung | UBERON:0002167 | 82.66 | gold quality |
| aorta | UBERON:0000947 | 82.29 | gold quality |
| caecum | UBERON:0001153 | 82.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.12 | gold quality |
| spleen | UBERON:0002106 | 82.08 | gold quality |
| left coronary artery | UBERON:0001626 | 82.00 | gold quality |
| muscle of leg | UBERON:0001383 | 81.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
70 targeting CYB5R4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-3129-5P | 99.75 | 70.46 | 914 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 18.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum (PMID:15131110)
- Variaation in the coding region is not a major contributor in the pathogenesis of nonautoimmune diabetes. (PMID:15504981)
- Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain. (PMID:20630863)
- Mutation in cytochrome b5 reductase is associated with developmental delay and severe neurological problems. (PMID:22627575)
- data provide first evidence for natural mutations in NCB5OR gene resulting in decreased protein levels and hence having potential implications in human pathology. (PMID:23523930)
- Cytosolic localization of NADH cytochrome b oxidoreductase (PMID:26878259)
- The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b5 core to form a helical motif that is of ancient origin. (PMID:38041394)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyb5r4 | ENSDARG00000020898 |
| mus_musculus | Cyb5r4 | ENSMUSG00000032872 |
| rattus_norvegicus | Cyb5r4 | ENSRNOG00000010024 |
| drosophila_melanogaster | CG11257 | FBGN0034442 |
| caenorhabditis_elegans | Y52B11A.3 | WBGENE00013123 |
Paralogs (5): CYB5R3 (ENSG00000100243), OXNAD1 (ENSG00000154814), CYB5R1 (ENSG00000159348), CYB5R2 (ENSG00000166394), CYB5RL (ENSG00000215883)
Protein
Protein identifiers
Cytochrome b5 reductase 4 — Q7L1T6 (reviewed: Q7L1T6)
Alternative names: Flavohemoprotein b5/b5R, N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein, cb5/cb5R
All UniProt accessions (2): Q7L1T6, A0A0A0MRM6
UniProt curated annotations — full annotation on UniProt →
Function. NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin.
Subcellular location. Endoplasmic reticulum.
Tissue specificity. Widely expressed.
Polymorphism. Variants Arg-187 and Arg-223 do not influence the pathogenesis of non-autoimmune diabetes.
Similarity. Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
RefSeq proteins (2): NP_001387703, NP_057314* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001199 | Cyt_B5-like_heme/steroid-bd | Domain |
| IPR001433 | OxRdtase_FAD/NAD-bd | Domain |
| IPR007052 | CS_dom | Domain |
| IPR008333 | Cbr1-like_FAD-bd_dom | Domain |
| IPR008978 | HSP20-like_chaperone | Homologous_superfamily |
| IPR017927 | FAD-bd_FR_type | Domain |
| IPR017938 | Riboflavin_synthase-like_b-brl | Homologous_superfamily |
| IPR018506 | Cyt_B5_heme-BS | Binding_site |
| IPR036400 | Cyt_B5-like_heme/steroid_sf | Homologous_superfamily |
| IPR037908 | p23_NCB5OR | Domain |
| IPR039261 | FNR_nucleotide-bd | Homologous_superfamily |
| IPR051872 | Cytochrome_b5/Flavoprotein_Rdt | Family |
Pfam: PF00173, PF00175, PF00970, PF04969
Enzyme classification (BRENDA):
- EC 1.6.2.2 — cytochrome-b5 reductase (BRENDA: 34 organisms, 101 substrates, 111 inhibitors, 300 Km, 221 kcat entries)
Substrate kinetics (BRENDA)
23 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NADH | 0.0002–3.32 | 94 |
| FERRICYANIDE | 0.0006–4.35 | 72 |
| FERRICYTOCHROME B5 | — | 66 |
| CYTOCHROME B5 | 0.0011–0.042 | 19 |
| NADPH | 0.001–7.69 | 17 |
| FERROCYTOCHROME B5 | 0.001–0.107 | 6 |
| FERRICYTOCHOME B5 | 0.01–0.013 | 4 |
| FERRICYTOCHROME C | 0.0003–0.007 | 3 |
| OXIDIZED 2,6-DICHLOROPHENOLINDOPHENOL | 0.328–0.83 | 2 |
| 1,4-NAPHTHOQUINONE | 0.0098 | 1 |
| 2-HYDROXYESTRADIOL | 0.0026 | 1 |
| 2-METHYL-1,4-NAPHTHOQUINONE | 0.077 | 1 |
| 9,10-PHENANTHRENEQUINONE | 0.0057 | 1 |
| AQUACOBALAMIN | 0.0419 | 1 |
| BENZAMIDOXIME | 0.63 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- 2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + NAD(+) + H(+) (RHEA:46680)
UniProt features (65 total): strand 24, helix 17, sequence variant 8, turn 5, binding site 4, domain 3, chain 1, modified residue 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3LF5 | X-RAY DIFFRACTION | 1.25 |
| 6MV2 | X-RAY DIFFRACTION | 2.05 |
| 6MV1 | X-RAY DIFFRACTION | 2.15 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L1T6-F1 | 87.02 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 89 (axial binding residue); 112 (axial binding residue); 365–380; 392–424
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1237044 | Erythrocytes take up carbon dioxide and release oxygen |
| R-HSA-1480926 | O2/CO2 exchange in erythrocytes |
| R-HSA-382551 | Transport of small molecules |
MSigDB gene sets: 182 (showing top):
GOBP_INSULIN_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_SUPEROXIDE_METABOLIC_PROCESS, GOBP_HORMONE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RESPONSE_TO_OXYGEN_LEVELS, TGCTGAY_UNKNOWN, TGIF_01, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_BICARBONATE_TRANSPORT, GOBP_SECRETION, GOBP_SIGNAL_RELEASE, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_CARBOHYDRATE_HOMEOSTASIS
GO Biological Process (8): detection of oxygen (GO:0003032), superoxide metabolic process (GO:0006801), bicarbonate transport (GO:0015701), insulin secretion (GO:0030073), glucose homeostasis (GO:0042593), response to antibiotic (GO:0046677), cell development (GO:0048468), reactive oxygen species metabolic process (GO:0072593)
GO Molecular Function (7): cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128), NAD(P)H oxidase H2O2-forming activity (GO:0016174), oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653), heme binding (GO:0020037), metal ion binding (GO:0046872), cytochrome-b5 reductase activity, acting on NADH (GO:0090524), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| O2/CO2 exchange in erythrocytes | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| detection of chemical stimulus | 1 |
| response to oxygen levels | 1 |
| reactive oxygen species metabolic process | 1 |
| transport | 1 |
| protein secretion | 1 |
| peptide hormone secretion | 1 |
| carbohydrate homeostasis | 1 |
| response to chemical | 1 |
| cell differentiation | 1 |
| anatomical structure development | 1 |
| cellular developmental process | 1 |
| metabolic process | 1 |
| oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor | 1 |
| oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor | 1 |
| oxidoreductase activity, acting on NAD(P)H | 1 |
| tetrapyrrole binding | 1 |
| cation binding | 1 |
| cytochrome-b5 reductase activity, acting on NAD(P)H | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
4264 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYB5R4 | CYB5B | O43169 | 965 |
| CYB5R4 | CYB5A | P00167 | 965 |
| CYB5R4 | SCD | O00767 | 868 |
| CYB5R4 | CYCS | P00001 | 717 |
| CYB5R4 | POR | P16435 | 685 |
| CYB5R4 | DHODH | Q02127 | 606 |
| CYB5R4 | PPY | P01298 | 582 |
| CYB5R4 | SCD5 | Q86SK9 | 519 |
| CYB5R4 | FDXR | P22570 | 512 |
| CYB5R4 | SUOX | P51687 | 507 |
| CYB5R4 | CYP51A1 | Q16850 | 504 |
| CYB5R4 | RIPPLY2 | Q5TAB7 | 479 |
| CYB5R4 | HBA1 | P01922 | 466 |
| CYB5R4 | MT-CYB | P00156 | 466 |
| CYB5R4 | FADS1 | O60427 | 464 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYB5R4 | PNLIPRP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| N | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (6): CYB5R4 (Negative Genetic), CYB5R4 (Affinity Capture-RNA), PNLIPRP2 (Affinity Capture-MS), CYB5R4 (Co-fractionation), CYB5R4 (Affinity Capture-RNA), CYB5R4 (Two-hybrid)
ESM2 similar proteins: A0AVT1, A0JMM9, A2RVS4, A3KMX8, A3KNL6, A6H630, A8MRP2, D2TN58, O74834, P0AE48, P0AE49, P0AE50, P0AE51, P35875, P38074, P41888, P54121, P87305, Q16P90, Q32LH7, Q4H4F0, Q4R526, Q58EM4, Q5SPB6, Q66I06, Q66KX0, Q6AXB1, Q6DJA3, Q6INN8, Q7L1T6, Q7TS68, Q84QC1, Q8GY54, Q8IU29, Q8IXY8, Q8RX87, Q8TEA1, Q9C5X8, Q9FIX1, Q9FIX2
Diamond homologs: A0A0C5PRW9, A0A286R227, A4FV48, A4IFP3, A4UVI1, A8MWK0, B2KKL4, B7GCG7, B8MKR3, B8R1K0, C8VJR5, D8X2C5, O04354, O22704, O43169, O48845, O60427, O74875, O94391, O95864, P00167, P00168, P00169, P00170, P00171, P00172, P00173, P00174, P00175, P04166, P08509, P08619, P09437, P11035, P11605, P11832, P17569, P17570, P17571, P23312
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3105 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:83859854:CAAG:C | donor_loss | 1.0000 |
| 6:83859855:AAGG:A | donor_loss | 1.0000 |
| 6:83859858:GTAA:G | donor_loss | 1.0000 |
| 6:83859859:T:G | donor_loss | 1.0000 |
| 6:83864173:A:AC | acceptor_loss | 1.0000 |
| 6:83864173:A:AG | acceptor_gain | 1.0000 |
| 6:83864173:AG:A | acceptor_gain | 1.0000 |
| 6:83864174:G:GC | acceptor_gain | 1.0000 |
| 6:83864174:GG:G | acceptor_gain | 1.0000 |
| 6:83864174:GGT:G | acceptor_gain | 1.0000 |
| 6:83864174:GGTA:G | acceptor_gain | 1.0000 |
| 6:83864174:GGTAC:G | acceptor_gain | 1.0000 |
| 6:83864326:GAG:G | donor_gain | 1.0000 |
| 6:83864329:G:GG | donor_gain | 1.0000 |
| 6:83864330:T:A | donor_loss | 1.0000 |
| 6:83893514:T:TA | acceptor_gain | 1.0000 |
| 6:83893519:CAGGT:C | acceptor_loss | 1.0000 |
| 6:83893520:A:AG | acceptor_gain | 1.0000 |
| 6:83893520:AGGTT:A | acceptor_loss | 1.0000 |
| 6:83893521:G:GG | acceptor_gain | 1.0000 |
| 6:83893521:G:GT | acceptor_loss | 1.0000 |
| 6:83893521:GGT:G | acceptor_gain | 1.0000 |
| 6:83893620:CAG:C | donor_loss | 1.0000 |
| 6:83893621:AG:A | donor_loss | 1.0000 |
| 6:83893622:GG:G | donor_loss | 1.0000 |
| 6:83893623:G:GC | donor_loss | 1.0000 |
| 6:83893624:T:A | donor_loss | 1.0000 |
| 6:83909001:C:G | acceptor_gain | 1.0000 |
| 6:83909002:A:AG | acceptor_gain | 1.0000 |
| 6:83909003:T:G | acceptor_gain | 1.0000 |
AlphaMissense
3453 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:83864208:T:A | W37R | 0.999 |
| 6:83864208:T:C | W37R | 0.999 |
| 6:83893528:T:A | V79D | 0.999 |
| 6:83909018:T:A | W114R | 0.999 |
| 6:83909018:T:C | W114R | 0.999 |
| 6:83909020:G:C | W114C | 0.999 |
| 6:83909020:G:T | W114C | 0.999 |
| 6:83864210:G:C | W37C | 0.998 |
| 6:83864210:G:T | W37C | 0.998 |
| 6:83864313:T:A | W72R | 0.998 |
| 6:83864313:T:C | W72R | 0.998 |
| 6:83893530:T:G | Y80D | 0.998 |
| 6:83893557:C:G | H89D | 0.998 |
| 6:83893614:T:C | F108L | 0.998 |
| 6:83893616:T:A | F108L | 0.998 |
| 6:83893616:T:G | F108L | 0.998 |
| 6:83864284:T:C | L62P | 0.997 |
| 6:83893537:T:A | V82D | 0.997 |
| 6:83893559:T:A | H89Q | 0.997 |
| 6:83893559:T:G | H89Q | 0.997 |
| 6:83909012:C:G | H112D | 0.997 |
| 6:83909040:T:C | L121P | 0.997 |
| 6:83909055:T:A | V126D | 0.996 |
| 6:83864209:G:C | W37S | 0.995 |
| 6:83893594:G:A | G101E | 0.995 |
| 6:83893615:T:G | F108C | 0.995 |
| 6:83909048:T:C | C124R | 0.995 |
| 6:83864315:G:C | W72C | 0.994 |
| 6:83864315:G:T | W72C | 0.994 |
| 6:83864326:G:T | R76I | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000025040 (6:83921551 G>A), RS1000050890 (6:83935056 A>G), RS1000050902 (6:83902874 T>C), RS1000122358 (6:83933337 T>A), RS1000139262 (6:83914691 C>A,T), RS1000174311 (6:83959791 C>T), RS1000174910 (6:83898693 T>C), RS1000209883 (6:83947091 A>G), RS1000213251 (6:83914432 A>G), RS1000254577 (6:83870374 G>A,T), RS1000302010 (6:83881328 C>G,T), RS1000315576 (6:83914856 T>A), RS1000352673 (6:83921403 A>C,G), RS1000355619 (6:83877308 A>G), RS1000359193 (6:83953253 TATTTG>T)
Disease associations
OMIM: gene MIM:608343 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012490_226 | Femur bone mineral density x serum urate levels interaction | 3.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression | 1 |
| Succimer | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Silicon Dioxide | decreases expression, increases methylation | 1 |
| Sodium Dodecyl Sulfate | decreases expression | 1 |
| Thimerosal | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Asbestos, Crocidolite | affects expression | 1 |
| Antirheumatic Agents | 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_E1UX | HAP1 CYB5R4 (-) | 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.