PEDS1
gene geneOn this page
Also known as Kua
Summary
PEDS1 (plasmanylethanolamine desaturase 1, HGNC:16735) is a protein-coding gene on chromosome 20q13.13, encoding Plasmanylethanolamine desaturase 1 (A5PLL7). Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane.
Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 387521 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 8 total
- MANE Select transcript:
NM_199129
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16735 |
| Approved symbol | PEDS1 |
| Name | plasmanylethanolamine desaturase 1 |
| Location | 20q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Kua |
| Ensembl gene | ENSG00000240849 |
| Ensembl biotype | protein_coding |
| OMIM | 610994 |
| Entrez | 387521 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 10 protein_coding, 2 nonsense_mediated_decay
ENST00000371650, ENST00000371652, ENST00000371656, ENST00000371658, ENST00000453505, ENST00000879855, ENST00000879856, ENST00000879857, ENST00000879858, ENST00000879859, ENST00000879860, ENST00000879861
RefSeq mRNA: 2 — MANE Select: NM_199129
NM_001162505, NM_199129
CCDS: CCDS13428, CCDS54473
Canonical transcript exons
ENST00000371652 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003522796 | 50127975 | 50128187 |
| ENSE00003597588 | 50143502 | 50143621 |
| ENSE00003628060 | 50129546 | 50129690 |
| ENSE00003694667 | 50130856 | 50130947 |
| ENSE00003730383 | 50118254 | 50125179 |
| ENSE00003847338 | 50153517 | 50153723 |
Expression profiles
Bgee: expression breadth ubiquitous, 234 present calls, max score 95.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0576 / max 174.6032, expressed in 1803 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187828 | 24.7195 | 1803 |
| 187829 | 21.3703 | 1810 |
| 187823 | 0.3381 | 135 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 95.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.43 | gold quality |
| spinal cord | UBERON:0002240 | 94.91 | gold quality |
| upper arm skin | UBERON:0004263 | 94.11 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.46 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.20 | gold quality |
| skin of leg | UBERON:0001511 | 93.10 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.97 | gold quality |
| esophagus | UBERON:0001043 | 91.38 | gold quality |
| zone of skin | UBERON:0000014 | 91.32 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.98 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.91 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.22 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.11 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.07 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.96 | gold quality |
| tibial nerve | UBERON:0001323 | 89.78 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.67 | gold quality |
| lower esophagus | UBERON:0013473 | 89.44 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.40 | gold quality |
| apex of heart | UBERON:0002098 | 89.34 | gold quality |
| substantia nigra | UBERON:0002038 | 89.30 | gold quality |
| vagina | UBERON:0000996 | 89.29 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.09 | gold quality |
| upper lobe of lung | UBERON:0008948 | 89.07 | gold quality |
| muscle of leg | UBERON:0001383 | 88.92 | gold quality |
| ectocervix | UBERON:0012249 | 88.79 | gold quality |
| midbrain | UBERON:0001891 | 88.76 | gold quality |
| left coronary artery | UBERON:0001626 | 88.70 | gold quality |
| putamen | UBERON:0001874 | 88.70 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7303 | no | 370.27 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
61 targeting PEDS1, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
Literature-anchored findings (GeneRIF, showing 4)
- TMEM189 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. (PMID:21555518)
- TMEM189 could functionally replace CarF in M. xanthus, and knockout of TMEM189 in a human cell line eliminated plasmalogens; study reveals TMEM189 as the long-sought desaturase for animal plasmalogen biosynthesis (PMID:31604315)
- these results assign the TMEM189 gene to plasmanylethanolamine desaturase and suggest that the previously characterized phenotype of Tmem189-deficient mice may be caused by a lack of plasmalogens. (PMID:32209662)
- TMEM189 promotes breast cancer through inhibition of autophagy-regulated ferroptosis. (PMID:35843092)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Peds1 | ENSMUSG00000090213 |
| rattus_norvegicus | Ube2v1 | ENSRNOG00000025580 |
Paralogs (24): UBE2T (ENSG00000077152), UBE2A (ENSG00000077721), UBE2K (ENSG00000078140), CDC34 (ENSG00000099804), UBE2I (ENSG00000103275), UBE2W (ENSG00000104343), UBE2R2 (ENSG00000107341), UBE2S (ENSG00000108106), UBE2B (ENSG00000119048), UBE2G1 (ENSG00000132388), UBE2Z (ENSG00000159202), UBE2J2 (ENSG00000160087), AKTIP (ENSG00000166971), UBE2V2 (ENSG00000169139), UBE2C (ENSG00000175063), UBE2O (ENSG00000175931), UBE2U (ENSG00000177414), UBE2N (ENSG00000177889), UBE2F (ENSG00000184182), UBE2G2 (ENSG00000184787), UBE2H (ENSG00000186591), UBE2J1 (ENSG00000198833), UBE2V1 (ENSG00000244687), UBE2NL (ENSG00000276380)
Protein
Protein identifiers
Plasmanylethanolamine desaturase 1 — A5PLL7 (reviewed: A5PLL7)
Alternative names: Transmembrane protein 189
All UniProt accessions (4): A5PLL7, F8W924, F8WBY2, Q5TGE2
UniProt curated annotations — full annotation on UniProt →
Function. Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane. Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms.
Subcellular location. Endoplasmic reticulum membrane.
Domain organisation. Histidine box-1 and -2 together with other histidine residues are essential for catalytic activity.
Pathway. Lipid metabolism; fatty acid metabolism.
Miscellaneous. In human, PEDS1 and UBE2V1 are adjacent genes which can produce independent proteins and can also be fused to form a PEDS1-UBE2V1 hybrid protein.
Similarity. Belongs to the fatty acid desaturase CarF family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A5PLL7-1 | 1 | yes |
| A5PLL7-2 | 2 |
RefSeq proteins (2): NP_001155977, NP_954580* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019547 | Lipid_desat | Domain |
| IPR052601 | Plasmalogen_desaturase | Family |
Pfam: PF10520
Enzyme classification (BRENDA):
- EC 1.14.19.77 — plasmanylethanolamine desaturase (BRENDA: 6 organisms, 22 substrates, 11 inhibitors, 0 Km, 0 kcat entries)
Catalyzed reactions (Rhea), 4 shown:
- a 1-(1,2-saturated alkyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:22956)
- a 1-O-hexadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = a 1-O-(1Z-hexadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:61960)
- a 1-O-octadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = a 1-O-(1Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:61964)
- a 1-O-(9Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + O2 + 2 H(+) = a 1-O-(1Z,9Z-octadecadienyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O (RHEA:61968)
UniProt features (31 total): mutagenesis site 12, site 8, transmembrane region 3, sequence conflict 3, short sequence motif 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A5PLL7-F1 | 90.82 | 0.74 |
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 (8): 190 (essential for catalytic activity); 214 (essential for catalytic activity); 217 (essential for catalytic activity); 218 (essential for catalytic activity); 95 (essential for catalytic activity); 120 (essential for catalytic activity); 121 (essential for catalytic activity); 186 (essential for catalytic activity)
Mutagenesis-validated functional residues (12):
| Position | Phenotype |
|---|---|
| 95 | loss of plasmanylethanolamine desaturase activity. |
| 120 | loss of plasmanylethanolamine desaturase activity. |
| 121 | loss of plasmanylethanolamine desaturase activity. |
| 130 | loss of plasmanylethanolamine desaturase activity. |
| 186 | loss of plasmanylethanolamine desaturase activity. |
| 190 | loss of plasmanylethanolamine desaturase activity. |
| 206 | no effect on plasmanylethanolamine desaturase activity. |
| 213 | no effect on plasmanylethanolamine desaturase activity. |
| 214 | loss of plasmanylethanolamine desaturase activity. |
| 217 | loss of plasmanylethanolamine desaturase activity. |
| 218 | loss of plasmanylethanolamine desaturase activity. |
| 222 | no effect on desaturase plasmanylethanolamine activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, AAGCCAT_MIR135A_MIR135B, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, VANTVEER_BREAST_CANCER_ESR1_DN, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOBP_FATTY_ACID_METABOLIC_PROCESS, GOCC_ORGANELLE_SUBCOMPARTMENT, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, CHEN_METABOLIC_SYNDROM_NETWORK, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, KASLER_HDAC7_TARGETS_1_UP
GO Biological Process (3): fatty acid metabolic process (GO:0006631), ether lipid biosynthetic process (GO:0008611), lipid metabolic process (GO:0006629)
GO Molecular Function (3): plasmanylethanolamine desaturase activity (GO:0050207), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| ether lipid metabolic process | 1 |
| glycerol ether biosynthetic process | 1 |
| primary metabolic process | 1 |
| oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 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
810 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PEDS1 | G3V2F7 | G3V2F7 | 864 |
| PEDS1 | UBB | P02248 | 731 |
| PEDS1 | UBB | P02248 | 726 |
| PEDS1 | PDCL | Q13371 | 714 |
| PEDS1 | GHITM | Q9H3K2 | 596 |
| PEDS1 | COPS7A | Q9UBW8 | 583 |
| PEDS1 | UBE2D2 | P51669 | 574 |
| PEDS1 | AGPS | O00116 | 572 |
| PEDS1 | UBE2V2 | Q15819 | 548 |
| PEDS1 | LALBA | P00709 | 540 |
| PEDS1 | UBE2K | P27924 | 530 |
| PEDS1 | FAR1 | Q8WVX9 | 510 |
| PEDS1 | GNPAT | O15228 | 506 |
| PEDS1 | UBE2I | P50550 | 463 |
| PEDS1 | UBE2D1 | P51668 | 462 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LAMP2 | PEDS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SH3GLB1 | PEDS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PEDS1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3LG1 | PEDS1 | psi-mi:“MI:0914”(association) | 0.350 |
| RHBG | PEDS1 | psi-mi:“MI:0914”(association) | 0.350 |
| TCTN3 | TMEM120B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (87): UBC (Reconstituted Complex), CHORDC1 (Co-fractionation), RAB7A (Co-fractionation), TAGLN2 (Co-fractionation), UBE2K (Co-fractionation), UBE2N (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Co-fractionation), TMEM189-UBE2V1 (Proximity Label-MS), TMEM189 (Affinity Capture-MS)
ESM2 similar proteins: A2VE61, A5PLL7, A6QLM0, B1AZA5, B8BIM2, D3ZXD8, E9PTA2, O35052, O75907, O94759, P48631, P52848, P98191, Q02353, Q05B45, Q0P5C0, Q0VCJ8, Q2QZ14, Q3UHN9, Q4R4U1, Q4R766, Q5EA70, Q5HZE2, Q5R5F8, Q5R7B1, Q61115, Q6DD32, Q6NYY9, Q6P360, Q6PHN7, Q84VT2, Q8BFQ2, Q8C1E7, Q8GZC3, Q8MK44, Q8NBD8, Q8NBT3, Q8VWZ8, Q90693, Q91YD4
Diamond homologs: A5PLL7, A6QLM0, Q5UR78, Q99LQ7, Q9AE87, Q9SZ42, O81006, O04584
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
8 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1052 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:50127969:CCGCA:C | donor_loss | 1.0000 |
| 20:50127970:CGCA:C | donor_loss | 1.0000 |
| 20:50127970:CGCAC:C | donor_loss | 1.0000 |
| 20:50127971:GCA:G | donor_loss | 1.0000 |
| 20:50127971:GCACC:G | donor_loss | 1.0000 |
| 20:50127972:CAC:C | donor_loss | 1.0000 |
| 20:50127973:AC:A | donor_loss | 1.0000 |
| 20:50127974:C:CG | donor_loss | 1.0000 |
| 20:50129541:CTCA:C | donor_loss | 1.0000 |
| 20:50129543:CA:C | donor_loss | 1.0000 |
| 20:50129544:A:AC | donor_gain | 1.0000 |
| 20:50129545:C:A | donor_loss | 1.0000 |
| 20:50129545:C:CC | donor_gain | 1.0000 |
| 20:50129545:C:CG | donor_loss | 1.0000 |
| 20:50129689:GCC:G | acceptor_loss | 1.0000 |
| 20:50129691:C:CA | acceptor_loss | 1.0000 |
| 20:50129692:T:G | acceptor_loss | 1.0000 |
| 20:50129697:T:C | acceptor_gain | 1.0000 |
| 20:50129697:T:TC | acceptor_gain | 1.0000 |
| 20:50143500:A:AC | donor_gain | 1.0000 |
| 20:50143501:C:CC | donor_gain | 1.0000 |
| 20:50143501:CCAA:C | donor_gain | 1.0000 |
| 20:50153511:TCTTA:T | donor_loss | 1.0000 |
| 20:50153512:CTTA:C | donor_loss | 1.0000 |
| 20:50153513:TTA:T | donor_loss | 1.0000 |
| 20:50153513:TTAC:T | donor_loss | 1.0000 |
| 20:50153514:TA:T | donor_loss | 1.0000 |
| 20:50153515:ACC:A | donor_loss | 1.0000 |
| 20:50153516:C:CA | donor_loss | 1.0000 |
| 20:50128185:CTT:C | acceptor_gain | 0.9900 |
AlphaMissense
1760 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:50128017:G:C | H217D | 1.000 |
| 20:50125169:G:C | N234K | 0.999 |
| 20:50125169:G:T | N234K | 0.999 |
| 20:50127985:G:C | C227W | 0.999 |
| 20:50127986:C:T | C227Y | 0.999 |
| 20:50127988:G:C | F226L | 0.999 |
| 20:50127988:G:T | F226L | 0.999 |
| 20:50127990:A:G | F226L | 0.999 |
| 20:50128012:G:C | H218Q | 0.999 |
| 20:50128012:G:T | H218Q | 0.999 |
| 20:50128014:G:C | H218D | 0.999 |
| 20:50128015:G:C | H217Q | 0.999 |
| 20:50128015:G:T | H217Q | 0.999 |
| 20:50128017:G:T | H217N | 0.999 |
| 20:50128026:G:C | H214D | 0.999 |
| 20:50128026:G:T | H214N | 0.999 |
| 20:50128096:G:C | H190Q | 0.999 |
| 20:50128096:G:T | H190Q | 0.999 |
| 20:50128098:G:C | H190D | 0.999 |
| 20:50128110:G:C | H186D | 0.999 |
| 20:50128117:G:C | N183K | 0.999 |
| 20:50128117:G:T | N183K | 0.999 |
| 20:50129638:C:G | R129P | 0.999 |
| 20:50129661:G:C | H121Q | 0.999 |
| 20:50129661:G:T | H121Q | 0.999 |
| 20:50129663:G:C | H121D | 0.999 |
| 20:50129664:G:C | H120Q | 0.999 |
| 20:50129664:G:T | H120Q | 0.999 |
| 20:50129666:G:C | H120D | 0.999 |
| 20:50129666:G:T | H120N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000070167 (20:50151211 C>A,T), RS1000101479 (20:50144441 A>G), RS1000149984 (20:50121955 C>G,T), RS1000174731 (20:50117944 G>A), RS1000223296 (20:50143436 C>T), RS1000229490 (20:50121554 TAAG>T), RS1000283527 (20:50121825 T>C), RS1000307000 (20:50127840 A>T), RS1000336555 (20:50155040 G>A,C), RS1000351762 (20:50149033 A>T), RS1000407317 (20:50149318 C>T), RS1000460333 (20:50155660 C>G), RS1000502451 (20:50122204 G>C), RS1000548095 (20:50139928 AC>A), RS1000629907 (20:50145185 G>A,C)
Disease associations
OMIM: gene MIM:610994 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004608_113 | Granulocyte percentage of myeloid white cells | 3.000000e-16 |
| GCST004609_161 | Monocyte percentage of white cells | 1.000000e-18 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| ginger extract | decreases expression, increases abundance | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Estradiol | increases expression | 1 |
| Oils, Volatile | decreases expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Particulate Matter | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5L1 | HAP1 TMEM189 (-) 2 | Cancer cell line | Male |
| CVCL_B5L2 | HAP1 TMEM189 (-) 3 | Cancer cell line | Male |
| CVCL_XU44 | HAP1 TMEM189 (-) 1 | 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.