ZFAND6
gene geneOn this page
Also known as ZFAND5BAWP1
Summary
ZFAND6 (zinc finger AN1-type containing 6, HGNC:30164) is a protein-coding gene on chromosome 15q25.1, encoding AN1-type zinc finger protein 6 (Q6FIF0). Involved in regulation of TNF induced NF-kappa-B activation and apoptosis.
Predicted to enable polyubiquitin modification-dependent protein binding activity. Involved in cellular response to tumor necrosis factor; negative regulation of apoptotic process; and regulation of canonical NF-kappaB signal transduction. Predicted to be located in cytosol.
Source: NCBI Gene 54469 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_019006
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30164 |
| Approved symbol | ZFAND6 |
| Name | zinc finger AN1-type containing 6 |
| Location | 15q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZFAND5B, AWP1 |
| Ensembl gene | ENSG00000086666 |
| Ensembl biotype | protein_coding |
| OMIM | 610183 |
| Entrez | 54469 |
Gene structure
Transcript identifiers
Ensembl transcripts: 158 — 155 protein_coding, 3 retained_intron
ENST00000261749, ENST00000557793, ENST00000557983, ENST00000558087, ENST00000558272, ENST00000558390, ENST00000558494, ENST00000558688, ENST00000558724, ENST00000558997, ENST00000559157, ENST00000559775, ENST00000559835, ENST00000560228, ENST00000560392, ENST00000560470, ENST00000560976, ENST00000561012, ENST00000561017, ENST00000561060, ENST00000564367, ENST00000613266, ENST00000616533, ENST00000618205, ENST00000891381, ENST00000891382, ENST00000891383, ENST00000891384, ENST00000891385, ENST00000891386, ENST00000891387, ENST00000891388, ENST00000891389, ENST00000891390, ENST00000891391, ENST00000891392, ENST00000891393, ENST00000891394, ENST00000891395, ENST00000891396, ENST00000891397, ENST00000891398, ENST00000891399, ENST00000891400, ENST00000891401, ENST00000891402, ENST00000891403, ENST00000891404, ENST00000891405, ENST00000891406, ENST00000891407, ENST00000891408, ENST00000891409, ENST00000891410, ENST00000891411, ENST00000891412, ENST00000891413, ENST00000891414, ENST00000891415, ENST00000891416, ENST00000891417, ENST00000891418, ENST00000891419, ENST00000891420, ENST00000891421, ENST00000891422, ENST00000891423, ENST00000891424, ENST00000891425, ENST00000891426, ENST00000891427, ENST00000891428, ENST00000891429, ENST00000891430, ENST00000891431, ENST00000891432, ENST00000891433, ENST00000891434, ENST00000891435, ENST00000891436, ENST00000891437, ENST00000891438, ENST00000891439, ENST00000891440, ENST00000891441, ENST00000891442, ENST00000914160, ENST00000914161, ENST00000914162, ENST00000914163, ENST00000914164, ENST00000914165, ENST00000914166, ENST00000914167, ENST00000914168, ENST00000914169, ENST00000914170, ENST00000914171, ENST00000914172, ENST00000914173, ENST00000914174, ENST00000914175, ENST00000914176, ENST00000914177, ENST00000914178, ENST00000914179, ENST00000914180, ENST00000914181, ENST00000914182, ENST00000914183, ENST00000914184, ENST00000914185, ENST00000914186, ENST00000914187, ENST00000914188, ENST00000914189, ENST00000914191, ENST00000914192, ENST00000914193, ENST00000914195, ENST00000914196, ENST00000914197, ENST00000914198, ENST00000914199, ENST00000914200, ENST00000961407, ENST00000961408, ENST00000961409, ENST00000961410, ENST00000961411, ENST00000961412, ENST00000961413, ENST00000961414, ENST00000961415, ENST00000961416, ENST00000961417, ENST00000961418, ENST00000961419, ENST00000961420, ENST00000961421, ENST00000961422, ENST00000961423, ENST00000961424, ENST00000961425, ENST00000961426, ENST00000961427, ENST00000961428, ENST00000961429, ENST00000961430, ENST00000961431, ENST00000961432, ENST00000961433, ENST00000961434, ENST00000961435, ENST00000961436, ENST00000961437, ENST00000961438, ENST00000961439
RefSeq mRNA: 10 — MANE Select: NM_019006
NM_001242911, NM_001242912, NM_001242913, NM_001242914, NM_001242915, NM_001242916, NM_001242917, NM_001242918, NM_001242919, NM_019006
CCDS: CCDS10313, CCDS58395
Canonical transcript exons
ENST00000261749 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001025055 | 80122700 | 80122800 |
| ENSE00001218509 | 80098416 | 80098578 |
| ENSE00001343702 | 80131180 | 80131293 |
| ENSE00001855325 | 80137480 | 80138393 |
| ENSE00002558150 | 80059676 | 80059809 |
| ENSE00003688955 | 80120328 | 80120498 |
| ENSE00003790486 | 80121712 | 80121820 |
Expression profiles
Bgee: expression breadth ubiquitous, 139 present calls, max score 99.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.1529 / max 466.0614, expressed in 1817 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147974 | 27.0211 | 1813 |
| 147975 | 3.7365 | 1312 |
| 147980 | 3.3137 | 1255 |
| 147976 | 2.4967 | 1342 |
| 147973 | 0.5653 | 312 |
| 147977 | 0.0195 | 7 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 99.05 | gold quality |
| right testis | UBERON:0004534 | 98.06 | gold quality |
| left testis | UBERON:0004533 | 97.96 | gold quality |
| testis | UBERON:0000473 | 97.91 | gold quality |
| bone marrow cell | CL:0002092 | 97.84 | gold quality |
| endometrium | UBERON:0001295 | 97.74 | gold quality |
| bone marrow | UBERON:0002371 | 97.53 | gold quality |
| tonsil | UBERON:0002372 | 97.39 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.23 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 97.00 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.97 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.94 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.91 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 96.89 | gold quality |
| muscle of leg | UBERON:0001383 | 96.88 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.80 | gold quality |
| lymph node | UBERON:0000029 | 96.79 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.77 | gold quality |
| rectum | UBERON:0001052 | 96.73 | gold quality |
| monocyte | CL:0000576 | 96.69 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.66 | gold quality |
| leukocyte | CL:0000738 | 96.64 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.61 | gold quality |
| adrenal gland | UBERON:0002369 | 96.49 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.47 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.45 | gold quality |
| liver | UBERON:0002107 | 96.32 | gold quality |
| uterus | UBERON:0000995 | 96.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.21 | 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)
78 targeting ZFAND6, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| 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-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
Literature-anchored findings (GeneRIF, showing 6)
- The AN1 domain of AWP1 mediated the functional interaction with tumor necrosis factor receptor-associated factor 2, and the A20 domain was responsible for the negative regulation of nuclear factor kappaB activation. (PMID:21810480)
- ZFAND6 was identified as a type 2 diabetes susceptibility gene. ZFAND6 plays a role in insulin secretion in vitro. (PMID:28580277)
- By observing the data obtained from the isothermal titration calorimetry assay, both of the human proteins (KRCC1 and ZFAND6) were demonstrated to bind to their respective Toxoplasma gondii SAG1 and SAG2 proteins. (PMID:29351065)
- Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population. (PMID:36980809)
- EIF4A3-induced circZFAND6 promotes breast cancer proliferation and metastasis through the miR-647/FASN axis. (PMID:37127184)
- Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India. (PMID:37738238)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zfand6 | ENSMUSG00000030629 |
| rattus_norvegicus | Zfand6 | ENSRNOG00000013506 |
Paralogs (2): ZFAND5 (ENSG00000107372), ZFAND3 (ENSG00000156639)
Protein
Protein identifiers
AN1-type zinc finger protein 6 — Q6FIF0 (reviewed: Q6FIF0)
Alternative names: Associated with PRK1 protein, Zinc finger A20 domain-containing protein 3
All UniProt accessions (12): Q6FIF0, H0YK21, H0YK54, H0YLR2, H0YME2, H0YMG0, H0YMR5, H3BM82, H3BMJ5, H3BP46, H3BPX9, H3BT16
UniProt curated annotations — full annotation on UniProt →
Function. Involved in regulation of TNF induced NF-kappa-B activation and apoptosis. Involved in modulation of ‘Lys-48’-linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes.
Subunit / interactions. Interacts with PKN1. Interacts with TRAF2. Interacts with mono- and polyubiquitin. Interacts with PEX6. Interacts with PEX5 (Cys-linked ubiquitinated).
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed with high level in heart, skeletal muscle, liver, kidney and placenta.
Domain organisation. The A20-type zinc finger domain mediates regulation of NF-kappa-B activity. The AN1-type zinc finger domain mediates association with TRAF2.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6FIF0-1 | 1 | yes |
| Q6FIF0-2 | 2 |
RefSeq proteins (10): NP_001229840, NP_001229841, NP_001229842, NP_001229843, NP_001229844, NP_001229845, NP_001229846, NP_001229847, NP_001229848, NP_061879* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000058 | Znf_AN1 | Domain |
| IPR002653 | Znf_A20 | Domain |
| IPR035896 | AN1-like_Znf | Homologous_superfamily |
| IPR050652 | AN1_A20_ZnFinger | Family |
Pfam: PF01428, PF01754
UniProt features (27 total): binding site 12, sequence conflict 4, compositionally biased region 4, zinc finger region 2, modified residue 2, chain 1, splice variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6FIF0-F1 | 72.62 | 0.38 |
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 (12): 30; 33; 149; 152; 163; 165; 170; 173; 179; 181; 14; 18
Post-translational modifications (2): 49, 204
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9033241 | Peroxisomal protein import |
MSigDB gene sets: 178 (showing top):
GOBP_RESPONSE_TO_PEPTIDE, MODULE_151, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, CATTTCA_MIR203, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, AACTTT_UNKNOWN, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_DN, BURTON_ADIPOGENESIS_10, DOUGLAS_BMI1_TARGETS_UP, ZHANG_BREAST_CANCER_PROGENITORS_UP, YAMAZAKI_TCEB3_TARGETS_DN, GOBP_RESPONSE_TO_TUMOR_NECROSIS_FACTOR, HOXA4_Q2
GO Biological Process (6): protein targeting to peroxisome (GO:0006625), apoptotic process (GO:0006915), protein transport (GO:0015031), negative regulation of apoptotic process (GO:0043066), regulation of canonical NF-kappaB signal transduction (GO:0043122), cellular response to tumor necrosis factor (GO:0071356)
GO Molecular Function (5): DNA binding (GO:0003677), zinc ion binding (GO:0008270), polyubiquitin modification-dependent protein binding (GO:0031593), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Protein localization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein targeting | 1 |
| establishment of protein localization to peroxisome | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| response to tumor necrosis factor | 1 |
| cellular response to cytokine stimulus | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| modification-dependent protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
862 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFAND6 | PEX6 | Q13608 | 840 |
| ZFAND6 | ZBED3 | Q96IU2 | 706 |
| ZFAND6 | HHEX | Q03014 | 627 |
| ZFAND6 | PKN1 | Q16512 | 615 |
| ZFAND6 | CDKAL1 | Q5VV42 | 612 |
| ZFAND6 | TSPAN8 | P19075 | 588 |
| ZFAND6 | PAX6 | P26367 | 586 |
| ZFAND6 | CDC34 | P49427 | 578 |
| ZFAND6 | KLF14 | Q8TD94 | 570 |
| ZFAND6 | PEX1 | O43933 | 552 |
| ZFAND6 | FTO | Q9C0B1 | 550 |
| ZFAND6 | ARAP1 | Q96P48 | 543 |
| ZFAND6 | IGF2BP2 | Q9Y6M1 | 542 |
| ZFAND6 | CDC123 | O75794 | 507 |
| ZFAND6 | ZFAND3 | Q9H8U3 | 498 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZFAND6 | TRAF2 | psi-mi:“MI:0914”(association) | 0.810 |
| TRAF2 | ZFAND6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| ZFAND6 | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| ZFAND6 | TRAF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAD23A | ZFAND6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| DNM2 | ZFAND6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (40): ZFAND6 (Two-hybrid), ZFAND6 (Two-hybrid), CDV3 (Co-fractionation), CIRBP (Co-fractionation), GSS (Co-fractionation), HNRNPA3 (Co-fractionation), NONO (Co-fractionation), TXLNG (Co-fractionation), TRAF2 (Affinity Capture-MS), BIRC2 (Affinity Capture-MS), ZFAND6 (Reconstituted Complex), ZFAND6 (Positive Genetic), ZFAND6 (Affinity Capture-MS), RAD23A (Two-hybrid), ZFAND6 (Protein-peptide)
ESM2 similar proteins: A2VE56, A6QPH9, I3LHS8, O08781, O14545, O54836, P0C6S7, Q14CM0, Q3SZY7, Q3U2E2, Q497H0, Q4R3D6, Q4R970, Q58D05, Q5F3F2, Q5FWF5, Q5R7S6, Q5RDJ2, Q5U2M7, Q5VT97, Q66J85, Q68FE8, Q69Z69, Q6DGF4, Q6FIF0, Q6N043, Q6P2K3, Q70EL2, Q7Z6G8, Q8BIZ1, Q8IWR0, Q8K214, Q8K387, Q8N7W2, Q8N9Z9, Q8NA31, Q8ND82, Q8QFX1, Q91YD3, Q96B23
Diamond homologs: A2YEZ6, A2Z2J6, A3BDI8, A3C039, B5DF11, D3Z3C6, O49663, O76080, O88878, P0C282, Q0DJC7, Q3EA33, Q3SZY7, Q5JLA7, Q5JN07, Q5R7S6, Q69LE0, Q6DGF4, Q6FIF0, Q6H754, Q6H7P8, Q6NNI8, Q6Z541, Q7Y1W9, Q84PD8, Q852K5, Q852K6, Q852K8, Q86XD8, Q8H0X0, Q942F8, Q94B40, Q9DCH6, Q9H8U3, Q9LHJ8, Q9SJM6, Q9STJ9, Q9SZ69, Q9ZNU9, O18973
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1805 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:80120322:TTTCA:T | acceptor_loss | 1.0000 |
| 15:80120323:TTCA:T | acceptor_loss | 1.0000 |
| 15:80120324:TCA:T | acceptor_loss | 1.0000 |
| 15:80120325:CAGGT:C | acceptor_loss | 1.0000 |
| 15:80120327:GGT:G | acceptor_gain | 1.0000 |
| 15:80120327:GGTGT:G | acceptor_gain | 1.0000 |
| 15:80120433:GTTC:G | donor_gain | 1.0000 |
| 15:80120438:G:GG | donor_gain | 1.0000 |
| 15:80120497:TGGT:T | donor_loss | 1.0000 |
| 15:80120499:GTAA:G | donor_loss | 1.0000 |
| 15:80120500:T:G | donor_loss | 1.0000 |
| 15:80122698:A:AG | acceptor_gain | 1.0000 |
| 15:80122699:G:GA | acceptor_gain | 1.0000 |
| 15:80122699:GCCCT:G | acceptor_gain | 1.0000 |
| 15:80122799:GG:G | donor_gain | 1.0000 |
| 15:80122800:GG:G | donor_gain | 1.0000 |
| 15:80131178:A:AG | acceptor_gain | 1.0000 |
| 15:80131179:G:GG | acceptor_gain | 1.0000 |
| 15:80131274:G:GT | donor_gain | 1.0000 |
| 15:80059807:CAG:C | donor_loss | 0.9900 |
| 15:80059808:AGGT:A | donor_loss | 0.9900 |
| 15:80059809:GGTGA:G | donor_loss | 0.9900 |
| 15:80059810:G:A | donor_loss | 0.9900 |
| 15:80059811:T:A | donor_loss | 0.9900 |
| 15:80071022:G:GT | donor_gain | 0.9900 |
| 15:80075793:T:G | acceptor_gain | 0.9900 |
| 15:80085130:GGGGA:G | donor_gain | 0.9900 |
| 15:80085131:GGGAG:G | donor_gain | 0.9900 |
| 15:80085132:G:T | donor_gain | 0.9900 |
| 15:80098577:GT:G | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000040394 (15:80074955 A>G), RS1000043693 (15:80090904 C>T), RS1000109405 (15:80117592 G>A,T), RS1000119848 (15:80117265 C>A), RS1000143688 (15:80126600 T>A,G), RS1000218866 (15:80074000 A>G), RS1000259512 (15:80129137 A>G), RS1000286422 (15:80069560 C>G,T), RS1000302054 (15:80107413 T>A), RS1000306637 (15:80128924 T>C), RS1000360399 (15:80069698 G>C), RS1000362141 (15:80135208 C>T), RS1000362677 (15:80091139 T>C), RS1000391836 (15:80063738 A>G), RS1000410874 (15:80101954 G>C)
Disease associations
OMIM: gene MIM:610183 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000712_9 | Type 2 diabetes | 2.000000e-09 |
| GCST004619_121 | Reticulocyte fraction of red cells | 3.000000e-12 |
| GCST004622_134 | Reticulocyte count | 8.000000e-14 |
| GCST005973_12 | White blood cell count | 3.000000e-16 |
| GCST005975_20 | Eosinophil count | 2.000000e-10 |
| GCST005977_15 | Monocyte count | 3.000000e-08 |
| GCST90002385_61 | High light scatter reticulocyte count | 3.000000e-33 |
| GCST90002386_601 | High light scatter reticulocyte percentage of red cells | 2.000000e-29 |
| GCST90002387_9 | Immature fraction of reticulocytes | 4.000000e-17 |
| GCST90002405_345 | Reticulocyte count | 2.000000e-28 |
| GCST90002406_394 | Reticulocyte fraction of red cells | 2.000000e-24 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0004842 | eosinophil count |
| EFO:0005091 | monocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression | 2 |
| trichostatin A | affects expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| K 7174 | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vehicle Emissions | increases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Levonorgestrel | affects cotreatment, decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | 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.