CYB5B
gene geneOn this page
Also known as CYB5-M
Summary
CYB5B (cytochrome b5 type B, HGNC:24374) is a protein-coding gene on chromosome 16q22.1, encoding Cytochrome b5 type B (O43169). Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. It is a selective cancer dependency (DepMap: 24.7% of cell lines).
Enables heme binding activity. Contributes to nitrite reductase (NO-forming) activity. Involved in nitric oxide biosynthetic process. Located in membrane. Part of nitric-oxide synthase complex.
Source: NCBI Gene 80777 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 43 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 24.7% of screened cell lines
- MANE Select transcript:
NM_030579
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24374 |
| Approved symbol | CYB5B |
| Name | cytochrome b5 type B |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CYB5-M |
| Ensembl gene | ENSG00000103018 |
| Ensembl biotype | protein_coding |
| OMIM | 611964 |
| Entrez | 80777 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 12 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay
ENST00000307892, ENST00000514123, ENST00000515314, ENST00000561792, ENST00000568237, ENST00000568342, ENST00000684784, ENST00000686167, ENST00000686649, ENST00000687677, ENST00000687780, ENST00000688840, ENST00000689149, ENST00000691260, ENST00000692523, ENST00000692677, ENST00000693607, ENST00000944290
RefSeq mRNA: 1 — MANE Select: NM_030579
NM_030579
CCDS: CCDS10880
Canonical transcript exons
ENST00000307892 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001031836 | 69459093 | 69459121 |
| ENSE00002268884 | 69462430 | 69466264 |
| ENSE00002322000 | 69424619 | 69424857 |
| ENSE00003495597 | 69447150 | 69447278 |
| ENSE00003640984 | 69448115 | 69448144 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.9281 / max 1418.2269, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154818 | 51.3248 | 1816 |
| 154817 | 27.2060 | 1809 |
| 154816 | 3.3974 | 1599 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 99.39 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.30 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.21 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.18 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.15 | gold quality |
| adrenal cortex | UBERON:0001235 | 99.12 | gold quality |
| adrenal gland | UBERON:0002369 | 98.91 | gold quality |
| rectum | UBERON:0001052 | 98.09 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.23 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.12 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.01 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.00 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.87 | gold quality |
| ventricular zone | UBERON:0003053 | 95.59 | gold quality |
| gall bladder | UBERON:0002110 | 95.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.92 | gold quality |
| cortical plate | UBERON:0005343 | 94.84 | gold quality |
| transverse colon | UBERON:0001157 | 94.63 | gold quality |
| ectocervix | UBERON:0012249 | 94.26 | gold quality |
| embryo | UBERON:0000922 | 94.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.06 | gold quality |
| endocervix | UBERON:0000458 | 94.02 | gold quality |
| amygdala | UBERON:0001876 | 93.91 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.91 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.89 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.84 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.72 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-20 | no | 314.94 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
134 targeting CYB5B, 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-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-6755-5P | 99.95 | 65.59 | 464 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 24.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- could be involved in the differential modulation of 17 alpha-hydroxylase and 17,20-lyase activities of P450c17 [type2 cyt-b5] (PMID:11867265)
- The 21 kDa protein overexpressed in Hodgkin Lymphoma and aggressive non-Hodgkin Lymphomas is identical to CYB5B. (PMID:20100355)
- comparison of X-ray crystal structures of human and rat CYB5B reveals a striking difference in packing involving the five-strand beta-sheet, which can be attributed to fully buried residue 21 in strand beta4 (PMID:21574570)
- Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes. (PMID:23703616)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cyb5b | ENSDARG00000099774 |
| mus_musculus | Cyb5b | ENSMUSG00000031924 |
| rattus_norvegicus | Cyb5b | ENSRNOG00000011142 |
| drosophila_melanogaster | CG3566 | FBGN0029854 |
| caenorhabditis_elegans | WBGENE00007848 |
Paralogs (1): CYB5A (ENSG00000166347)
Protein
Protein identifiers
Cytochrome b5 type B — O43169 (reviewed: O43169)
Alternative names: Cytochrome b5 outer mitochondrial membrane isoform
All UniProt accessions (12): O43169, A0A8I5KP74, A0A8I5KSY3, A0A8I5KSY8, A0A8I5KVH4, A0A8I5KX20, A0A8I5KYK4, A0A8I5QJ67, A0A8I5QKN7, D6RFH4, H3BUX2, J3QR91
UniProt curated annotations — full annotation on UniProt →
Function. Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.
Subunit / interactions. Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MTARC2.
Subcellular location. Mitochondrion outer membrane.
Similarity. Belongs to the cytochrome b5 family.
RefSeq proteins (1): NP_085056* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001199 | Cyt_B5-like_heme/steroid-bd | Domain |
| IPR018506 | Cyt_B5_heme-BS | Binding_site |
| IPR036400 | Cyt_B5-like_heme/steroid_sf | Homologous_superfamily |
| IPR050668 | Cytochrome_b5 | Family |
Pfam: PF00173
UniProt features (25 total): helix 7, modified residue 5, strand 3, turn 2, binding site 2, propeptide 1, chain 1, sequence conflict 1, transmembrane region 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3NER | X-RAY DIFFRACTION | 1.45 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43169-F1 | 82.12 | 0.60 |
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): 59 (axial binding residue); 83 (axial binding residue)
Post-translational modifications (5): 39, 84, 23, 34, 37
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1660661 | Sphingolipid de novo biosynthesis |
| R-HSA-203615 | eNOS activation |
| R-HSA-211945 | Phase I - Functionalization of compounds |
MSigDB gene sets: 226 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, REACTOME_BIOLOGICAL_OXIDATIONS, chr16q22, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, UEDA_PERIFERAL_CLOCK, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, MODULE_239, GOBP_REACTIVE_NITROGEN_SPECIES_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN
GO Biological Process (3): xenobiotic metabolic process (GO:0006805), nitric oxide biosynthetic process (GO:0006809), response to oxidative stress (GO:0006979)
GO Molecular Function (4): heme binding (GO:0020037), metal ion binding (GO:0046872), protein binding (GO:0005515), nitrite reductase (NO-forming) activity (GO:0050421)
GO Cellular Component (5): mitochondrial outer membrane (GO:0005741), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), nitric-oxide synthase complex (GO:1903958), mitochondrion (GO:0005739)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Sphingolipid metabolism | 1 |
| Metabolism of nitric oxide: NOS3 activation and regulation | 1 |
| Biological oxidations | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| cellular response to xenobiotic stimulus | 1 |
| biosynthetic process | 1 |
| nitric oxide metabolic process | 1 |
| response to stress | 1 |
| tetrapyrrole binding | 1 |
| cation binding | 1 |
| binding | 1 |
| oxidoreductase activity, acting on other nitrogenous compounds as donors, cytochrome as acceptor | 1 |
| nitrite reductase activity | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| oxidoreductase complex | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3261 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYB5B | POR | P16435 | 997 |
| CYB5B | CYCS | P00001 | 995 |
| CYB5B | CYB5RL | Q6IPT4 | 994 |
| CYB5B | CYB5R3 | P00387 | 993 |
| CYB5B | CYB5R2 | Q6BCY4 | 993 |
| CYB5B | CYB5R1 | Q9UHQ9 | 993 |
| CYB5B | MB | P02144 | 989 |
| CYB5B | SCD | O00767 | 984 |
| CYB5B | CYP17A1 | P05093 | 979 |
| CYB5B | CYB5R4 | Q7L1T6 | 965 |
| CYB5B | NENF | Q9UMX5 | 962 |
| CYB5B | CYP3A4 | P05184 | 920 |
| CYB5B | FADS3 | Q9Y5Q0 | 901 |
| CYB5B | CYP2B6 | P20813 | 896 |
| CYB5B | CYP2E1 | P05181 | 894 |
IntAct
197 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CYB5B | MFSD5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CYB5B | EBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | CGRRF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | STX1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | BNIP3L | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | BIK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | AHNAK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CYB5B | TMEM237 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | CYB5B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | STOM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | SDHAF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | MARCHF8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | PDZK1IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | TMEM139 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | PHACTR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | BTNL9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | MFSD4B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | CLDN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | TMEM35A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | KCNK5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | SLC39A9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5B | RETREG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (366): CYB5B (Affinity Capture-RNA), CYB5B (Affinity Capture-RNA), CYB5B (Affinity Capture-RNA), CCDC47 (Co-fractionation), CCT2 (Co-fractionation), CYB5B (Co-fractionation), CYB5B (Co-fractionation), CYB5B (Co-fractionation), CYB5B (Co-fractionation), CYB5B (Co-fractionation), CYB5R1 (Co-fractionation), CYB5R3 (Co-fractionation), CYCS (Co-fractionation), ISYNA1 (Co-fractionation), PHB2 (Co-fractionation)
ESM2 similar proteins: B7G7Y7, B7GCG7, O04354, O13995, O22704, O43169, O48845, O74875, O94391, P00167, P00169, P00170, P00171, P00172, P00173, P00174, P00175, P04166, P34454, P34476, P35848, P40312, P40934, P49096, P49097, P49098, P49099, P49100, P56395, Q10352, Q12091, Q29HF1, Q42342, Q54LA1, Q55CU8, Q5RDJ5, Q60YT6, Q7YZW5, Q874I5, Q9CQX2
Diamond homologs: A0A0C5PRW9, 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, P09437, P32953, P40312, P40934, P49096, P49097, P49098, P49099, P49100, P56395, P82291
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Neutrophil degranulation | 10 | 3.5× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1112 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:69447146:GTAGC:G | acceptor_loss | 1.0000 |
| 16:69447147:TAGC:T | acceptor_loss | 1.0000 |
| 16:69447148:A:AG | acceptor_gain | 1.0000 |
| 16:69447149:G:GG | acceptor_gain | 1.0000 |
| 16:69447149:GC:G | acceptor_gain | 1.0000 |
| 16:69447149:GCA:G | acceptor_gain | 1.0000 |
| 16:69447149:GCACC:G | acceptor_gain | 1.0000 |
| 16:69447268:A:AG | donor_gain | 1.0000 |
| 16:69447276:CCGG:C | donor_loss | 1.0000 |
| 16:69447277:CGGTA:C | donor_loss | 1.0000 |
| 16:69447278:GGT:G | donor_loss | 1.0000 |
| 16:69447279:G:GC | donor_loss | 1.0000 |
| 16:69447280:T:A | donor_loss | 1.0000 |
| 16:69424738:G:GT | donor_gain | 0.9900 |
| 16:69424778:TGGCA:T | donor_gain | 0.9900 |
| 16:69424801:G:GT | donor_gain | 0.9900 |
| 16:69424825:C:T | donor_gain | 0.9900 |
| 16:69424856:AG:A | donor_loss | 0.9900 |
| 16:69424857:GGT:G | donor_loss | 0.9900 |
| 16:69424858:GTGG:G | donor_loss | 0.9900 |
| 16:69424859:T:G | donor_loss | 0.9900 |
| 16:69438362:TGTAC:T | donor_gain | 0.9900 |
| 16:69438363:GTACA:G | donor_gain | 0.9900 |
| 16:69447149:GCAC:G | acceptor_gain | 0.9900 |
| 16:69447279:G:GG | donor_gain | 0.9900 |
| 16:69448113:A:AG | acceptor_gain | 0.9900 |
| 16:69448114:G:GG | acceptor_gain | 0.9900 |
| 16:69448114:GA:G | acceptor_gain | 0.9900 |
| 16:69448114:GAGT:G | acceptor_gain | 0.9900 |
| 16:69448142:AAGGT:A | donor_loss | 0.9900 |
AlphaMissense
974 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:69447207:T:C | F78L | 0.999 |
| 16:69447209:T:A | F78L | 0.999 |
| 16:69447209:T:G | F78L | 0.999 |
| 16:69447224:C:A | H83Q | 0.999 |
| 16:69447224:C:G | H83Q | 0.999 |
| 16:69424846:T:C | F55L | 0.998 |
| 16:69424847:T:C | F55S | 0.998 |
| 16:69424848:C:A | F55L | 0.998 |
| 16:69424848:C:G | F55L | 0.998 |
| 16:69447151:A:G | H59R | 0.998 |
| 16:69447152:C:A | H59Q | 0.998 |
| 16:69447152:C:G | H59Q | 0.998 |
| 16:69447222:C:G | H83D | 0.998 |
| 16:69424829:T:A | V49D | 0.997 |
| 16:69447157:G:A | G61E | 0.997 |
| 16:69447208:T:C | F78S | 0.997 |
| 16:69447222:C:A | H83N | 0.997 |
| 16:69447223:A:G | H83R | 0.997 |
| 16:69447265:G:A | G97D | 0.997 |
| 16:69447265:G:T | G97V | 0.997 |
| 16:69424847:T:G | F55C | 0.996 |
| 16:69447150:C:G | H59D | 0.996 |
| 16:69447172:T:C | L66P | 0.996 |
| 16:69447208:T:G | F78C | 0.996 |
| 16:69424831:T:G | Y50D | 0.995 |
| 16:69447153:C:T | P60S | 0.995 |
| 16:69447196:C:A | A74E | 0.995 |
| 16:69447235:C:A | A87D | 0.995 |
| 16:69447247:T:C | L91P | 0.995 |
| 16:69447154:C:A | P60H | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000103820 (16:69465038 C>G,T), RS1000175284 (16:69454924 C>T), RS1000204390 (16:69440904 C>G,T), RS1000251785 (16:69427873 G>A), RS1000276251 (16:69422636 G>C), RS1000313561 (16:69460933 T>A), RS1000342572 (16:69445905 G>A), RS1000406588 (16:69447769 A>G), RS1000454511 (16:69460568 G>T), RS1000516150 (16:69440834 T>A), RS1000588346 (16:69440460 G>C,T), RS1000604410 (16:69446087 T>C), RS1000692698 (16:69427633 C>T), RS1000804520 (16:69433670 G>A), RS1000809466 (16:69439274 G>A,C,T)
Disease associations
OMIM: gene MIM:611964 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002251_8 | Homeostasis model assessment of beta-cell function (dietary factor interaction) | 9.000000e-06 |
| GCST002587_28 | Blood pressure (smoking interaction) | 4.000000e-09 |
| GCST004267_1 | Blood osmolality (transformed sodium) | 6.000000e-12 |
| GCST004267_7 | Blood osmolality (transformed sodium) | 6.000000e-10 |
| GCST005951_13 | Body mass index | 5.000000e-11 |
| GCST005983_5 | Serum uric acid levels | 1.000000e-08 |
| GCST006979_629 | Heel bone mineral density | 5.000000e-11 |
| GCST007725_38 | Serum uric acid levels | 3.000000e-07 |
| GCST007733_19 | Serum uric acid levels | 7.000000e-08 |
| GCST007733_56 | Serum uric acid levels | 2.000000e-10 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004469 | HOMA-B |
| EFO:0008111 | diet measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0006526 | pack-years measurement |
| EFO:0004340 | body mass index |
| EFO:0004761 | uric acid measurement |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523134 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
77 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| perfluorooctanoic acid | decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Air Pollutants | affects expression, affects cotreatment, increases abundance, increases expression | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| Ozone | increases abundance, affects expression, affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | affects expression | 1 |
| N(4)-hydroxycytidine | affects cotreatment, increases reduction | 1 |
| dibutylnitrosamine | affects cotreatment, increases response to substance | 1 |
| N-nitroso(di-n-propyl)amine | affects cotreatment, increases response to substance | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects cotreatment, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| N(4)-hydroxycytosine | affects cotreatment, increases reduction | 1 |
| 2-bromopalmitate | increases abundance, increases palmitoylation, decreases reaction | 1 |
| sulindac sulfide | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| benzamidoxime | affects cotreatment, increases reduction | 1 |
| phenethyl isothiocyanate | affects binding | 1 |
| sulfamethoxazole hydroxylamine | affects cotreatment, increases reduction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4341383 | Binding | Binding affinity to CYB5B in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis | Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem |
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.