CYB5R2
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Summary
CYB5R2 (cytochrome b5 reductase 2, HGNC:24376) is a protein-coding gene on chromosome 11p15.4, encoding NADH-cytochrome b5 reductase 2 (Q6BCY4). NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51700 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 74 total
- MANE Select transcript:
NM_016229
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24376 |
| Approved symbol | CYB5R2 |
| Name | cytochrome b5 reductase 2 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000166394 |
| Ensembl biotype | protein_coding |
| OMIM | 608342 |
| Entrez | 51700 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 25 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000299498, ENST00000436351, ENST00000524608, ENST00000524790, ENST00000525307, ENST00000526084, ENST00000527542, ENST00000528585, ENST00000531096, ENST00000532621, ENST00000532920, ENST00000533558, ENST00000534443, ENST00000534698, ENST00000872666, ENST00000872667, ENST00000872668, ENST00000872669, ENST00000872670, ENST00000872671, ENST00000872672, ENST00000872673, ENST00000872674, ENST00000872675, ENST00000917892, ENST00000917893, ENST00000917894, ENST00000917895, ENST00000917896, ENST00000917897, ENST00000954656, ENST00000954657
RefSeq mRNA: 3 — MANE Select: NM_016229
NM_001302826, NM_001302827, NM_016229
CCDS: CCDS7780
Canonical transcript exons
ENST00000299498 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001102585 | 7666451 | 7666550 |
| ENSE00002160342 | 7673419 | 7673500 |
| ENSE00003509477 | 7672748 | 7672891 |
| ENSE00003522259 | 7667728 | 7667813 |
| ENSE00003570840 | 7669625 | 7669731 |
| ENSE00003596177 | 7672451 | 7672523 |
| ENSE00003661356 | 7668478 | 7668561 |
| ENSE00003687542 | 7665104 | 7665546 |
| ENSE00003787362 | 7669205 | 7669334 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 98.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9797 / max 124.9505, expressed in 1175 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118475 | 3.4267 | 845 |
| 118466 | 3.1100 | 1049 |
| 118474 | 0.2759 | 144 |
| 118468 | 0.0711 | 11 |
| 118467 | 0.0398 | 7 |
| 118476 | 0.0255 | 9 |
| 118469 | 0.0171 | 5 |
| 118465 | 0.0137 | 2 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 98.48 | gold quality |
| right testis | UBERON:0004534 | 98.39 | gold quality |
| tibial nerve | UBERON:0001323 | 98.14 | gold quality |
| testis | UBERON:0000473 | 96.73 | gold quality |
| sperm | CL:0000019 | 96.29 | gold quality |
| sural nerve | UBERON:0015488 | 95.78 | gold quality |
| male germ cell | CL:0000015 | 95.35 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.77 | gold quality |
| skin of leg | UBERON:0001511 | 94.22 | gold quality |
| adult organism | UBERON:0007023 | 93.42 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.69 | gold quality |
| zone of skin | UBERON:0000014 | 92.48 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.49 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.26 | gold quality |
| body of uterus | UBERON:0009853 | 90.92 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.78 | gold quality |
| left ovary | UBERON:0002119 | 89.51 | gold quality |
| mouth mucosa | UBERON:0003729 | 89.40 | gold quality |
| spinal cord | UBERON:0002240 | 89.29 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 88.89 | gold quality |
| right ovary | UBERON:0002118 | 88.05 | gold quality |
| ectocervix | UBERON:0012249 | 87.97 | gold quality |
| corpus callosum | UBERON:0002336 | 87.85 | gold quality |
| putamen | UBERON:0001874 | 87.74 | gold quality |
| endocervix | UBERON:0000458 | 87.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.40 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.28 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.11 | gold quality |
| ascending aorta | UBERON:0001496 | 87.07 | gold quality |
| ovary | UBERON:0000992 | 87.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting CYB5R2, 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-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-129-1-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-129-2-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-589-5P | 98.72 | 66.96 | 927 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-4475 | 97.36 | 66.95 | 761 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-4714-5P | 97.04 | 67.76 | 955 |
| HSA-MIR-1233-3P | 96.81 | 65.44 | 573 |
Literature-anchored findings (GeneRIF, showing 6)
- CYB5R2 is a key enzyme involved in the mediation of NADH-induced redox activity in human spermatozoa. (PMID:15858218)
- findings suggest that CYB5R2 may be a functional tumor suppressor gene, frequently inactivated by hypermethylation of its promoter in nasopharyngeal carcinoma (PMID:24338690)
- Study showed that multifocal or multicentric glioblastomas have some underlying genetic and epigenetic characteristics that are associated with poor prognosis and that CYB5R2 is a new epigenetic marker for glioblastoma prognosis (PMID:26323991)
- Intratumoral Heterogeneity for Inactivating Frameshift Mutation of CYB5R2 Gene in Colorectal Cancers. (PMID:29532410)
- Long non-coding RNA MEG3 inhibits neovascularization in diabetic retinopathy by regulating microRNA miR-6720-5p and cytochrome B5 reductase 2. (PMID:34978518)
- NADH-Cytochrome B5 reductase 2 suppresses retinal vascular dysfunction through regulation of vascular endothelial growth factor A in diabetic retinopathy. (PMID:35820466)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyb5r2 | ENSDARG00000051925 |
| mus_musculus | Cyb5r2 | ENSMUSG00000048065 |
| rattus_norvegicus | Cyb5r2 | ENSRNOG00000019751 |
| drosophila_melanogaster | CG5946 | FBGN0036211 |
| caenorhabditis_elegans | WBGENE00020267 | |
| caenorhabditis_elegans | WBGENE00020268 |
Paralogs (5): CYB5R4 (ENSG00000065615), CYB5R3 (ENSG00000100243), OXNAD1 (ENSG00000154814), CYB5R1 (ENSG00000159348), CYB5RL (ENSG00000215883)
Protein
Protein identifiers
NADH-cytochrome b5 reductase 2 — Q6BCY4 (reviewed: Q6BCY4)
All UniProt accessions (5): E9PIV9, E9PMI2, E9PQW2, E9PRM4, Q6BCY4
UniProt curated annotations — full annotation on UniProt →
Function. NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1).
Tissue specificity. Restricted expression.
Similarity. Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6BCY4-1 | 1 | yes |
| Q6BCY4-2 | 2 |
RefSeq proteins (3): NP_001289755, NP_001289756, NP_057313* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001433 | OxRdtase_FAD/NAD-bd | Domain |
| IPR001709 | Flavoprot_Pyr_Nucl_cyt_Rdtase | Domain |
| IPR001834 | CBR-like | Family |
| IPR008333 | Cbr1-like_FAD-bd_dom | Domain |
| IPR017927 | FAD-bd_FR_type | Domain |
| IPR017938 | Riboflavin_synthase-like_b-brl | Homologous_superfamily |
| IPR039261 | FNR_nucleotide-bd | Homologous_superfamily |
Pfam: PF00175, PF00970
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 (11 total): sequence conflict 2, binding site 2, modified residue 2, sequence variant 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6BCY4-F1 | 95.73 | 0.95 |
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 (2): 107–137; 146–181
Post-translational modifications (2): 17, 18
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: 99 (showing top):
ONDER_CDH1_TARGETS_3_DN, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, YANG_BREAST_CANCER_ESR1_DN, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_BICARBONATE_TRANSPORT, GOBP_LIPID_METABOLIC_PROCESS, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, GOBP_LIPID_BIOSYNTHETIC_PROCESS, SENESE_HDAC1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, GOBP_STEROL_BIOSYNTHETIC_PROCESS, VANTVEER_BREAST_CANCER_ESR1_DN, GOBP_STEROID_METABOLIC_PROCESS, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK
GO Biological Process (5): bicarbonate transport (GO:0015701), sterol biosynthetic process (GO:0016126), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202)
GO Molecular Function (5): cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128), FAD binding (GO:0071949), cytochrome-b5 reductase activity, acting on NADH (GO:0090524), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): nucleus (GO:0005634), mitochondrion (GO:0005739), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
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 |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| transport | 1 |
| steroid biosynthetic process | 1 |
| sterol metabolic process | 1 |
| primary metabolic process | 1 |
| steroid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| lipid metabolic process | 1 |
| oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor | 1 |
| flavin adenine dinucleotide binding | 1 |
| cytochrome-b5 reductase activity, acting on NAD(P)H | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1272 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYB5R2 | CYB5B | O43169 | 993 |
| CYB5R2 | CYB5A | P00167 | 992 |
| CYB5R2 | SCD | O00767 | 818 |
| CYB5R2 | POR | P16435 | 612 |
| CYB5R2 | CYP51A1 | Q16850 | 581 |
| CYB5R2 | DHODH | Q02127 | 502 |
| CYB5R2 | SUOX | P51687 | 470 |
| CYB5R2 | ZNF614 | Q8N883 | 462 |
| CYB5R2 | CCNYL1 | Q8N7R7 | 433 |
| CYB5R2 | CLRN3 | Q8NCR9 | 425 |
| CYB5R2 | TNFRSF13B | O14836 | 418 |
| CYB5R2 | NQO1 | P15559 | 418 |
| CYB5R2 | ZPBP2 | Q6X784 | 412 |
| CYB5R2 | TUBG2 | Q9NRH3 | 410 |
| CYB5R2 | CYP27C1 | Q4G0S4 | 410 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYB5R2 | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRIP13 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PSMC6 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R2 | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R2 | TRAF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R2 | CDC23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC23 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R2 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FFAR2 | CYB5R2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OR2A4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PINK1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| AGPAT1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| SARAF | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYCBP | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CYB5R2 | COIL | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid), CYB5R2 (Two-hybrid)
ESM2 similar proteins: A1C7E9, A1DHW1, A2QCV4, A4R935, A5DQ25, A6R2K7, A6ZVM6, O74557, P00387, P04175, P07514, P0CP14, P0CP15, P16435, P19618, P20070, P37039, P38626, P83686, Q07994, Q0CY37, Q0P487, Q0UEY4, Q0X0E5, Q1DWN4, Q27597, Q2UFN3, Q3KNK3, Q3SYT8, Q4PGW7, Q4X0B5, Q54NC1, Q59P03, Q5AZB4, Q5BJ68, Q5EB81, Q5PQA4, Q5ZHX7, Q60HG4, Q6AY12
Diamond homologs: A0A286R227, A1C7E9, A1DHW1, A2QCV4, A3GF86, A3LT66, A4QR21, A4R935, A5DQ25, A5E7U2, A6R2K7, A6ZVM6, A7TNL7, B0CQN7, O74557, P00387, P07514, P07850, P08509, P08619, P0CP14, P0CP15, P11035, P11605, P11832, P16081, P17569, P17570, P17571, P20070, P22945, P23312, P27783, P27967, P27968, P27969, P36841, P36842, P36858, P36859
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1495 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:7668643:C:CA | donor_gain | 1.0000 |
| 11:7669620:TTTA:T | donor_loss | 1.0000 |
| 11:7669621:TTAC:T | donor_loss | 1.0000 |
| 11:7669622:TAC:T | donor_loss | 1.0000 |
| 11:7669623:AC:A | donor_loss | 1.0000 |
| 11:7672445:GCTCA:G | donor_loss | 1.0000 |
| 11:7672446:CTCA:C | donor_loss | 1.0000 |
| 11:7672447:TCA:T | donor_loss | 1.0000 |
| 11:7672448:CACCT:C | donor_loss | 1.0000 |
| 11:7672449:A:C | donor_loss | 1.0000 |
| 11:7672450:C:T | donor_loss | 1.0000 |
| 11:7672744:TTAC:T | donor_loss | 1.0000 |
| 11:7672745:TACCT:T | donor_loss | 1.0000 |
| 11:7672746:ACC:A | donor_loss | 1.0000 |
| 11:7672747:C:A | donor_loss | 1.0000 |
| 11:7672747:CCT:C | donor_gain | 1.0000 |
| 11:7672749:T:TA | donor_gain | 1.0000 |
| 11:7665542:CCAGC:C | acceptor_gain | 0.9900 |
| 11:7665543:CAGC:C | acceptor_gain | 0.9900 |
| 11:7665543:CAGCC:C | acceptor_gain | 0.9900 |
| 11:7665545:GCCTG:G | acceptor_loss | 0.9900 |
| 11:7665546:CCTGA:C | acceptor_loss | 0.9900 |
| 11:7665547:C:CC | acceptor_gain | 0.9900 |
| 11:7665547:C:CG | acceptor_loss | 0.9900 |
| 11:7665548:T:A | acceptor_loss | 0.9900 |
| 11:7666547:CTGT:C | acceptor_gain | 0.9900 |
| 11:7667723:CTGA:C | donor_loss | 0.9900 |
| 11:7667724:TGACC:T | donor_loss | 0.9900 |
| 11:7667725:GACC:G | donor_loss | 0.9900 |
| 11:7667727:C:CA | donor_loss | 0.9900 |
AlphaMissense
1826 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:7672498:A:G | F35S | 0.989 |
| 11:7669285:G:A | T103I | 0.987 |
| 11:7672495:C:G | R36P | 0.986 |
| 11:7669635:A:G | L83P | 0.984 |
| 11:7672504:C:G | R33P | 0.984 |
| 11:7665544:A:G | W221R | 0.983 |
| 11:7665544:A:T | W221R | 0.983 |
| 11:7669625:C:A | K86N | 0.983 |
| 11:7669625:C:G | K86N | 0.983 |
| 11:7667744:A:G | L181P | 0.982 |
| 11:7669238:C:G | G119R | 0.982 |
| 11:7669238:C:T | G119R | 0.982 |
| 11:7665456:C:T | G250D | 0.981 |
| 11:7665522:A:T | V228D | 0.981 |
| 11:7669627:T:C | K86E | 0.981 |
| 11:7669237:C:T | G119E | 0.980 |
| 11:7669722:A:T | V54D | 0.980 |
| 11:7667813:C:T | G158D | 0.979 |
| 11:7669671:G:T | P71H | 0.979 |
| 11:7669629:A:T | I85K | 0.978 |
| 11:7672761:A:G | L22S | 0.978 |
| 11:7668489:G:T | A154D | 0.977 |
| 11:7672491:A:C | F37L | 0.977 |
| 11:7672491:A:T | F37L | 0.977 |
| 11:7672493:A:G | F37L | 0.977 |
| 11:7669276:A:G | L106S | 0.975 |
| 11:7669682:C:A | R67S | 0.975 |
| 11:7669682:C:G | R67S | 0.975 |
| 11:7672515:G:C | S29R | 0.974 |
| 11:7672515:G:T | S29R | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000015876 (11:7674105 A>G,T), RS1000409569 (11:7666709 C>A,G), RS1000913302 (11:7674638 G>A), RS1000963864 (11:7674962 T>C), RS1001128291 (11:7670785 G>A), RS1001310805 (11:7672189 T>G), RS1001356570 (11:7671969 G>A,C), RS1001408757 (11:7671836 C>T), RS1001476393 (11:7670628 T>C), RS1001638909 (11:7666759 A>C), RS1002079184 (11:7665905 G>T), RS1002382500 (11:7668237 C>G,T), RS1002475156 (11:7674554 T>G), RS1002516141 (11:7668241 G>C,T), RS1003033322 (11:7673079 G>T)
Disease associations
OMIM: gene MIM:608342 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002143_7 | Blood pressure | 6.000000e-06 |
| GCST009391_103 | Metabolite levels | 6.000000e-06 |
| GCST010725_20 | Malaria | 4.000000e-69 |
| GCST010725_33 | Malaria | 2.000000e-67 |
| GCST010725_51 | Malaria | 1.000000e-55 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0009767 | glycine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | increases expression, affects expression | 3 |
| Benzo(a)pyrene | increases methylation, increases expression | 2 |
| Smoke | decreases expression, decreases reaction | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Particulate Matter | increases expression, affects methylation, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| bisphenol A | decreases methylation | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| pentanal | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| mirdametinib | decreases expression, affects cotreatment | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| MRK 003 | decreases expression | 1 |
| (+)-JQ1 compound | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
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.