APOBEC3D
gene geneOn this page
Also known as ARP6APOBEC3DE
Summary
APOBEC3D (apolipoprotein B mRNA editing enzyme catalytic subunit 3D, HGNC:17354) is a protein-coding gene on chromosome 22q13.1, encoding DNA dC->dU-editing enzyme APOBEC-3D (Q96AK3). DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms.
This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA.
Source: NCBI Gene 140564 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 88 total
- MANE Select transcript:
NM_152426
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17354 |
| Approved symbol | APOBEC3D |
| Name | apolipoprotein B mRNA editing enzyme catalytic subunit 3D |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARP6, APOBEC3DE |
| Ensembl gene | ENSG00000243811 |
| Ensembl biotype | protein_coding |
| OMIM | 609900 |
| Entrez | 140564 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000216099, ENST00000427494, ENST00000622217, ENST00000891546, ENST00000951685
RefSeq mRNA: 2 — MANE Select: NM_152426
NM_001363781, NM_152426
CCDS: CCDS46709, CCDS87027
Canonical transcript exons
ENST00000216099 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001818616 | 39032198 | 39033277 |
| ENSE00003802893 | 39022822 | 39023014 |
| ENSE00003806082 | 39025557 | 39025671 |
| ENSE00003806668 | 39025070 | 39025349 |
| ENSE00003807212 | 39029363 | 39029519 |
| ENSE00003810546 | 39031694 | 39031973 |
| ENSE00003842488 | 39021127 | 39021536 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 89.13.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5507 / max 14.7425, expressed in 288 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192304 | 0.5507 | 288 |
Top tissues by expression
135 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 89.13 | gold quality |
| lymph node | UBERON:0000029 | 84.49 | gold quality |
| spleen | UBERON:0002106 | 80.10 | gold quality |
| bone marrow cell | CL:0002092 | 79.21 | gold quality |
| blood | UBERON:0000178 | 78.86 | gold quality |
| vermiform appendix | UBERON:0001154 | 78.72 | gold quality |
| leukocyte | CL:0000738 | 75.16 | gold quality |
| right uterine tube | UBERON:0001302 | 74.99 | gold quality |
| monocyte | CL:0000576 | 74.24 | gold quality |
| bone marrow | UBERON:0002371 | 73.53 | gold quality |
| gall bladder | UBERON:0002110 | 73.33 | gold quality |
| rectum | UBERON:0001052 | 72.81 | gold quality |
| tonsil | UBERON:0002372 | 72.80 | gold quality |
| duodenum | UBERON:0002114 | 72.05 | gold quality |
| stromal cell of endometrium | CL:0002255 | 72.04 | gold quality |
| colonic epithelium | UBERON:0000397 | 71.63 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 71.45 | gold quality |
| small intestine | UBERON:0002108 | 71.17 | gold quality |
| right ovary | UBERON:0002118 | 71.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 71.17 | gold quality |
| fallopian tube | UBERON:0003889 | 71.02 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 70.45 | gold quality |
| ovary | UBERON:0000992 | 70.38 | gold quality |
| endocervix | UBERON:0000458 | 70.01 | gold quality |
| left ovary | UBERON:0002119 | 69.95 | gold quality |
| uterine cervix | UBERON:0000002 | 69.65 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.52 | gold quality |
| right adrenal gland | UBERON:0001233 | 69.46 | gold quality |
| left adrenal gland | UBERON:0001234 | 69.30 | gold quality |
| placenta | UBERON:0001987 | 69.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6058 | no | 31.93 |
| E-ANND-3 | no | 1.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
44 targeting APOBEC3D, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-6790-5P | 99.77 | 65.24 | 505 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-3130-5P | 98.14 | 66.00 | 711 |
| HSA-MIR-340-3P | 98.11 | 68.25 | 679 |
| HSA-MIR-6827-3P | 98.08 | 72.27 | 651 |
| HSA-MIR-30C-1-3P | 97.80 | 66.36 | 1499 |
Literature-anchored findings (GeneRIF, showing 10)
- Distinct determinants in HIV-1 Vif and human APOBEC3 proteins are required for the suppression of diverse host anti-viral proteins. (PMID:19088851)
- endogenous levels of APOBEC3D, APOBEC3F, and APOBEC3G combine to restrict Vif-deficient HIV-1 and cause the hallmark dinucleotide hypermutation patterns in in the nonpermissive T cell line CEM2n (PMID:22807680)
- The authors conclude that APOBEC3G exerts a greater restriction effect on HIV-1 than APOBEC3F and APOBEC3DE. (PMID:23097438)
- We found that two common novel polymorphisms in APOBEC3D decrease antiviral activity against HIV-1, and one polymorphism decreases activity against Alu retrotransposons in the human population. (PMID:23755966)
- APOBEC3 deaminases upregulated by IFN-beta induce E2 hypermutation of HPV16 in cervical keratinocytes. (PMID:24227842)
- APOBEC3D/F and APOBEC3G fundamentally work as restriction factors against HIV-1 in vivo (PMID:25330146)
- APOBEC3DE binds to itself, APOBEC3F, and APOBEC3G and antagonizes APOBEC3F and, to a lesser extent, APOBEC3G restriction of hepatitis B virus replication. (PMID:27289067)
- APOBEC3DE inhibits human LINE-1 retrotransposition. (PMID:27428332)
- These results indicate that APOBEC3 proteins can be copackaged and can comutate the same genomes, and can cooperate to inhibit HIV replication. (PMID:27439715)
- Alternative splicing of APOBEC3D generates functional diversity and its role as a DNA mutator. (PMID:32533515)
Cross-species orthologs
0 orthologs
Paralogs (9): APOBEC3H (ENSG00000100298), APOBEC1 (ENSG00000111701), AICDA (ENSG00000111732), APOBEC2 (ENSG00000124701), APOBEC3A (ENSG00000128383), APOBEC3F (ENSG00000128394), APOBEC3B (ENSG00000179750), APOBEC3G (ENSG00000239713), APOBEC3C (ENSG00000244509)
Protein
Protein identifiers
DNA dC->dU-editing enzyme APOBEC-3D — Q96AK3 (reviewed: Q96AK3)
All UniProt accessions (4): A0A087WX48, B2CML4, Q96AK3, Q6ICH2
UniProt curated annotations — full annotation on UniProt →
Function. DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Also inhibits the mobility of LTR and non-LTR retrotransposons. (Microbial infection) Enhances hepatitis B virus/HBV replication by excluding restriction factors APOBEC3F and APOBEC3G from HBV capsids.
Subunit / interactions. Can form homo- and heterodimers with APOBEC3F and APOBEC3G. Interacts with L1RE1; this interaction inhibits LINE-1 retrotransposition. (Microbial infection) Interacts with HIV-1 Vif. This interaction triggers APOBEC3D polyubiquitylation and degradation by the 26S proteasome.
Subcellular location. Cytoplasm. P-body.
Tissue specificity. Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung.
Activity regulation. (Microbial infection) Antiviral activity is neutralized by the HIV-1 virion infectivity factor (Vif), that prevents its incorporation into progeny virions by both inhibiting its translation and/or by inducing its ubiquitination and subsequent degradation by the 26S proteasome.
Domain organisation. The CMP/dCMP deaminase domain 1 mediates RNA binding, RNA-dependent oligomerization and virion incorporation whereas the CMP/dCMP deaminase domain 2 confers deoxycytidine deaminase activity and substrate sequence specificity.
Miscellaneous. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22.
Similarity. Belongs to the cytidine and deoxycytidylate deaminase family.
RefSeq proteins (2): NP_001350710, NP_689639* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002125 | CMP_dCMP_dom | Domain |
| IPR016192 | APOBEC/CMP_deaminase_Zn-bd | Binding_site |
| IPR016193 | Cytidine_deaminase-like | Homologous_superfamily |
| IPR050610 | APOBEC_Cyt_Deaminase | Family |
Pfam: PF18782
Enzyme classification (BRENDA):
- EC 3.5.4.38 — single-stranded DNA cytosine deaminase (BRENDA: 8 organisms, 58 substrates, 4 inhibitors, 11 Km, 10 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CCCA | 0.001–0.073 | 5 |
| TTCA | 0.001–0.019 | 5 |
Catalyzed reactions (Rhea), 1 shown:
- a 2’-deoxycytidine in single-stranded DNA + H2O + H(+) = a 2’-deoxyuridine in single-stranded DNA + NH4(+) (RHEA:50948)
UniProt features (23 total): mutagenesis site 13, binding site 6, domain 2, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AK3-F1 | 87.72 | 0.64 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 264 (proton donor)
Ligand- & substrate-binding residues (6): 78; 109; 112; 262; 293; 296
Mutagenesis-validated functional residues (13):
| Position | Phenotype |
|---|---|
| 140 | about two-third loss of anti hiv-1 activity. |
| 264 | no effect on vif binding. |
| 268 | resistant to hiv-1 vif and abolishes vif binding. |
| 271 | resistant to hiv-1 vif and abolishes vif binding. |
| 272 | resistant to hiv-1 vif and reduces vif binding. |
| 275–276 | resistant to hiv-1 vif and abolishes vif binding. |
| 277 | resistant to hiv-1 vif and reduces vif binding. |
| 282 | resistant to hiv-1 vif and abolishes vif binding. |
| 302 | resistant to hiv-1 vif and abolishes vif binding. |
| 303 | resistant to hiv-1 vif and abolishes vif binding. |
| 307 | resistant to hiv-1 vif and abolishes vif binding. |
| 337 | resistant to hiv-1 vif and reduces vif binding. |
| 337 | resistant to hiv-1 vif and abolishes vif binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 76 (showing top):
GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_DNA_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_RNA_MODIFICATION, GOBP_VIRAL_GENOME_REPLICATION, GOBP_VIRAL_LIFE_CYCLE, DOUGLAS_BMI1_TARGETS_DN, GOBP_DEFENSE_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_VIRAL_GENOME_REPLICATION, GOBP_NEGATIVE_REGULATION_OF_VIRAL_GENOME_REPLICATION, GOBP_RESPONSE_TO_VIRUS, GOCC_RIBONUCLEOPROTEIN_GRANULE, chr22q13, GOBP_DNA_METABOLIC_PROCESS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_BUT_NOT_PEPTIDE_BONDS_IN_CYCLIC_AMIDINES
GO Biological Process (9): cytidine to uridine editing (GO:0016554), clearance of foreign intracellular DNA (GO:0044355), innate immune response (GO:0045087), negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869), defense response to virus (GO:0051607), DNA cytosine deamination (GO:0070383), immune system process (GO:0002376), negative regulation of macromolecule biosynthetic process (GO:0010558), defense response to symbiont (GO:0140546)
GO Molecular Function (6): RNA binding (GO:0003723), cytidine deaminase activity (GO:0004126), zinc ion binding (GO:0008270), catalytic activity (GO:0003824), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (3): P-body (GO:0000932), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| base conversion or substitution editing | 1 |
| clearance of foreign intracellular nucleic acids | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| single stranded viral RNA replication via double stranded DNA intermediate | 1 |
| negative regulation of viral genome replication | 1 |
| regulation of single stranded viral RNA replication via double stranded DNA intermediate | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| defense response | 1 |
| response to virus | 1 |
| DNA deamination | 1 |
| biological_process | 1 |
| macromolecule biosynthetic process | 1 |
| negative regulation of biosynthetic process | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| negative regulation of macromolecule metabolic process | 1 |
| defense response to other organism | 1 |
| nucleic acid binding | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines | 1 |
| deaminase activity | 1 |
| transition metal ion binding | 1 |
| molecular_function | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
940 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| APOBEC3D | CDA | P32320 | 866 |
| APOBEC3D | APOBEC4 | Q8WW27 | 819 |
| APOBEC3D | CBFB | Q13951 | 624 |
| APOBEC3D | CUL5 | Q93034 | 600 |
| APOBEC3D | TRIM5 | Q9C035 | 554 |
| APOBEC3D | ELOB | Q15370 | 543 |
| APOBEC3D | SAMHD1 | Q9Y3Z3 | 492 |
| APOBEC3D | APOB | P04114 | 490 |
| APOBEC3D | BST2 | Q10589 | 487 |
| APOBEC3D | UNG | P13051 | 481 |
| APOBEC3D | RNF7 | Q9UBF6 | 481 |
| APOBEC3D | ELOC | Q15369 | 465 |
| APOBEC3D | IL17C | Q9P0M4 | 396 |
| APOBEC3D | ADAR | P55265 | 378 |
| APOBEC3D | A1CF | Q9NQ94 | 373 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Brwd3 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| Gtf3c4 | YTHDC1 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| APOBEC3D | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| GATA2 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A2VDP6, A9QA56, G1SRW8, P0C7P3, P31941, P60704, P60705, Q08AF3, Q19Q52, Q1WBT4, Q2PT36, Q3SYR3, Q4VDN5, Q5RCA5, Q5XI89, Q68D06, Q694B4, Q694B5, Q694B6, Q694B7, Q694B8, Q694B9, Q694C0, Q694C1, Q694C2, Q694C4, Q694C5, Q6NTF7, Q75W64, Q7YR23, Q7YR24, Q7YR25, Q7Z7L1, Q8IUX4, Q8IXQ6, Q969Y0, Q96AK3, Q99J72, Q9BQQ7, Q9GZX7
Diamond homologs: A9QA56, P31941, P47855, P60704, P60705, Q19Q52, Q1WBT4, Q2PT36, Q3SYR3, Q4VDN5, Q694B4, Q694B5, Q694B6, Q694B7, Q694B8, Q694B9, Q694C0, Q694C1, Q694C2, Q694C4, Q694C5, Q6NTF7, Q75W64, Q7YR23, Q7YR24, Q7YR25, Q8IUX4, Q96AK3, Q99J72, Q9EQP0, Q9GZX7, Q9HC16, Q9NRW3, Q9UH17, Q9WV35, Q9WVE0, Q9Y235, P38483, P41238, P51908
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| APOBEC3D | up-regulates | “Clearance_of_foreign intracellular_DNA” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
949 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:39023011:GGAG:G | donor_gain | 1.0000 |
| 22:39023012:G:GT | donor_gain | 1.0000 |
| 22:39032195:CAG:C | acceptor_loss | 1.0000 |
| 22:39032196:A:AG | acceptor_gain | 1.0000 |
| 22:39032196:A:T | acceptor_loss | 1.0000 |
| 22:39032197:G:GA | acceptor_gain | 1.0000 |
| 22:39032197:GATT:G | acceptor_gain | 1.0000 |
| 22:39023015:GT:G | donor_loss | 0.9900 |
| 22:39023016:TAA:T | donor_loss | 0.9900 |
| 22:39031770:C:G | acceptor_gain | 0.9900 |
| 22:39031940:G:GT | donor_gain | 0.9900 |
| 22:39031973:GGTG:G | donor_loss | 0.9900 |
| 22:39031974:G:GA | donor_loss | 0.9900 |
| 22:39031975:T:A | donor_loss | 0.9900 |
| 22:39032197:GA:G | acceptor_gain | 0.9900 |
| 22:39032197:GAT:G | acceptor_gain | 0.9900 |
| 22:39032197:GATTT:G | acceptor_gain | 0.9900 |
| 22:39022813:T:TA | acceptor_gain | 0.9800 |
| 22:39022820:A:AG | acceptor_gain | 0.9800 |
| 22:39022821:G:GG | acceptor_gain | 0.9800 |
| 22:39022916:G:GT | donor_gain | 0.9800 |
| 22:39023012:GAG:G | donor_gain | 0.9800 |
| 22:39023015:G:GG | donor_gain | 0.9800 |
| 22:39029409:A:AG | acceptor_gain | 0.9800 |
| 22:39029410:A:G | acceptor_gain | 0.9800 |
| 22:39031774:CTACG:C | acceptor_gain | 0.9800 |
| 22:39031974:G:GG | donor_gain | 0.9800 |
| 22:39022821:GA:G | acceptor_gain | 0.9700 |
| 22:39022994:C:A | donor_gain | 0.9700 |
| 22:39025123:T:TA | acceptor_gain | 0.9700 |
AlphaMissense
2578 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:39022865:T:C | F21L | 0.972 |
| 22:39022867:T:A | F21L | 0.972 |
| 22:39022867:T:G | F21L | 0.972 |
| 22:39025214:T:C | F119L | 0.970 |
| 22:39025216:C:A | F119L | 0.970 |
| 22:39025216:C:G | F119L | 0.970 |
| 22:39029454:T:C | F233L | 0.970 |
| 22:39029456:C:A | F233L | 0.970 |
| 22:39029456:C:G | F233L | 0.970 |
| 22:39025166:T:C | F103L | 0.969 |
| 22:39025168:T:A | F103L | 0.969 |
| 22:39025168:T:G | F103L | 0.969 |
| 22:39031838:T:C | F303L | 0.966 |
| 22:39031840:C:A | F303L | 0.966 |
| 22:39031840:C:G | F303L | 0.966 |
| 22:39022853:T:C | F17L | 0.964 |
| 22:39022855:C:A | F17L | 0.964 |
| 22:39022855:C:G | F17L | 0.964 |
| 22:39029406:T:C | F217L | 0.964 |
| 22:39029408:T:A | F217L | 0.964 |
| 22:39029408:T:G | F217L | 0.964 |
| 22:39025559:T:C | F165L | 0.962 |
| 22:39025561:T:A | F165L | 0.962 |
| 22:39025561:T:G | F165L | 0.962 |
| 22:39029508:T:C | F251L | 0.961 |
| 22:39029510:C:A | F251L | 0.961 |
| 22:39029510:C:G | F251L | 0.961 |
| 22:39025106:T:C | F83L | 0.959 |
| 22:39025108:C:A | F83L | 0.959 |
| 22:39025108:C:G | F83L | 0.959 |
dbSNP variants (sampled 300 via entrez): RS1000336007 (22:39026238 C>T), RS1000485119 (22:39031060 G>A), RS1000951953 (22:39023185 A>G), RS1001185583 (22:39029491 TC>T), RS1001224052 (22:39032066 G>A,T), RS1001295741 (22:39023453 T>C), RS1001399987 (22:39025593 A>C), RS1001800557 (22:39020822 C>G), RS1001867103 (22:39029741 G>T), RS1002354832 (22:39022304 C>G), RS1002584405 (22:39020351 C>A,T), RS1002959925 (22:39032141 A>G), RS1003003154 (22:39020106 G>C), RS1003295276 (22:39033247 A>G), RS1003619991 (22:39033538 C>T)
Disease associations
OMIM: gene MIM:609900 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Copper Sulfate | increases expression | 1 |
| S-Nitrosoglutathione | increases expression | 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.