ZDHHC21
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Also known as HSPC097DNZ1DHHC21
Summary
ZDHHC21 (zDHHC palmitoyltransferase 21, HGNC:20750) is a protein-coding gene on chromosome 9p22.3, encoding Palmitoyltransferase ZDHHC21 (Q8IVQ6). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates.
Enables protein-cysteine S-palmitoyltransferase activity. Involved in peptidyl-L-cysteine S-palmitoylation. Located in Golgi apparatus and plasma membrane.
Source: NCBI Gene 340481 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_178566
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20750 |
| Approved symbol | ZDHHC21 |
| Name | zDHHC palmitoyltransferase 21 |
| Location | 9p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC097, DNZ1, DHHC21 |
| Ensembl gene | ENSG00000175893 |
| Ensembl biotype | protein_coding |
| OMIM | 614605 |
| Entrez | 340481 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 34 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000380916, ENST00000497966, ENST00000850565, ENST00000850566, ENST00000850567, ENST00000850568, ENST00000850569, ENST00000850570, ENST00000899578, ENST00000899579, ENST00000899580, ENST00000899581, ENST00000899582, ENST00000899583, ENST00000899584, ENST00000899585, ENST00000899586, ENST00000899587, ENST00000899588, ENST00000899589, ENST00000899590, ENST00000899591, ENST00000899592, ENST00000899593, ENST00000899594, ENST00000899595, ENST00000899596, ENST00000928204, ENST00000961810, ENST00000961811, ENST00000961812, ENST00000961813, ENST00000961814, ENST00000961815, ENST00000961816, ENST00000961817, ENST00000961818, ENST00000961819, ENST00000961820
RefSeq mRNA: 14 — MANE Select: NM_178566
NM_001354118, NM_001354119, NM_001354120, NM_001354121, NM_001354122, NM_001354123, NM_001354124, NM_001354125, NM_001354126, NM_001354127, NM_001354128, NM_001354129, NM_001354130, NM_178566
CCDS: CCDS6475
Canonical transcript exons
ENST00000380916 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001314876 | 14658749 | 14658887 |
| ENSE00001334892 | 14680033 | 14680162 |
| ENSE00001596278 | 14690337 | 14690385 |
| ENSE00004282127 | 14619639 | 14619682 |
| ENSE00004282134 | 14639896 | 14640012 |
| ENSE00004282138 | 14662215 | 14662326 |
| ENSE00004282144 | 14611071 | 14619098 |
| ENSE00004282146 | 14674187 | 14674385 |
| ENSE00004282148 | 14693229 | 14693432 |
| ENSE00004282152 | 14672830 | 14672928 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 91.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8664 / max 162.8225, expressed in 1609 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100032 | 5.7995 | 1533 |
| 100033 | 1.8855 | 837 |
| 100025 | 0.1458 | 20 |
| 100027 | 0.0357 | 6 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 91.93 | gold quality |
| endothelial cell | CL:0000115 | 90.25 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.91 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.96 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.36 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.21 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.12 | gold quality |
| gingiva | UBERON:0001828 | 87.26 | gold quality |
| tendon | UBERON:0000043 | 85.94 | gold quality |
| corpus epididymis | UBERON:0004359 | 85.55 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.18 | gold quality |
| caput epididymis | UBERON:0004358 | 85.13 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.94 | gold quality |
| occipital lobe | UBERON:0002021 | 84.14 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.87 | gold quality |
| corpus callosum | UBERON:0002336 | 83.74 | gold quality |
| medial globus pallidus | UBERON:0002477 | 83.28 | gold quality |
| jejunal mucosa | UBERON:0000399 | 83.10 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.85 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.61 | gold quality |
| cerebellum | UBERON:0002037 | 82.56 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.54 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.48 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.44 | gold quality |
| oral cavity | UBERON:0000167 | 82.32 | gold quality |
| cerebellar vermis | UBERON:0004720 | 82.01 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 82.00 | gold quality |
| visceral pleura | UBERON:0002401 | 81.90 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.99 |
| E-MTAB-8271 | no | 217.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
490 targeting ZDHHC21, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
Literature-anchored findings (GeneRIF, showing 3)
- the DHHC-7 and -21 proteins are novel targets to selectively inhibit membrane sex steroid receptor localization and function (PMID:22031296)
- We show that knockdown of ZDHHC21 leads to reduced levels of platelet endothelial cell adhesion molecule-1 at the cell surface. (PMID:22496122)
- The palmitoyltransferase ZDHHC21 regulates oxidative phosphorylation to induce differentiation block and stemness in AML. (PMID:37216691)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc21 | ENSDARG00000110709 |
| mus_musculus | Zdhhc21 | ENSMUSG00000028403 |
| rattus_norvegicus | Zdhhc21 | ENSRNOG00000074898 |
| drosophila_melanogaster | Dnz1 | FBGN0027453 |
| drosophila_melanogaster | CG1407 | FBGN0033474 |
| drosophila_melanogaster | CG17287 | FBGN0034202 |
| caenorhabditis_elegans | dhhc-7 | WBGENE00007637 |
| caenorhabditis_elegans | dhhc-12 | WBGENE00010323 |
| caenorhabditis_elegans | dhhc-2 | WBGENE00012948 |
| caenorhabditis_elegans | WBGENE00014075 | |
| caenorhabditis_elegans | WBGENE00016620 | |
| caenorhabditis_elegans | WBGENE00020066 |
Paralogs (17): ZDHHC6 (ENSG00000023041), ZDHHC15 (ENSG00000102383), ZDHHC2 (ENSG00000104219), ZDHHC4 (ENSG00000136247), ZDHHC7 (ENSG00000153786), ZDHHC1 (ENSG00000159714), ZDHHC12 (ENSG00000160446), ZDHHC3 (ENSG00000163812), ZDHHC19 (ENSG00000163958), ZDHHC14 (ENSG00000175048), ZDHHC22 (ENSG00000177108), ZDHHC20 (ENSG00000180776), ZDHHC23 (ENSG00000184307), ZDHHC9 (ENSG00000188706), ZDHHC11 (ENSG00000188818), ZDHHC18 (ENSG00000204160), ZDHHC11B (ENSG00000206077)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC21 — Q8IVQ6 (reviewed: Q8IVQ6)
Alternative names: DHHC domain-containing cysteine-rich protein 21, Zinc finger DHHC domain-containing protein 21
All UniProt accessions (1): Q8IVQ6
UniProt curated annotations — full annotation on UniProt →
Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates. Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor. Palmitoylates FYN, regulates its localization in hair follicles and plays a key role in epidermal homeostasis and hair follicle differentiation. Through the palmitoylation of PLCB1 and the regulation of PLCB1 downstream signaling may indirectly regulate the function of the endothelial barrier and the adhesion of leukocytes to the endothelium. Also has a palmitoyltransferase activity toward ADRA1D, positively regulating its activity and expression and may thereby play a role in vascular contraction. May also palmitoylate eNOS and LCK.
Subcellular location. Golgi apparatus membrane. Golgi apparatus. cis-Golgi network membrane. Cell membrane.
Tissue specificity. Widely expressed.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Similarity. Belongs to the DHHC palmitoyltransferase family.
RefSeq proteins (14): NP_001341047, NP_001341048, NP_001341049, NP_001341050, NP_001341051, NP_001341052, NP_001341053, NP_001341054, NP_001341055, NP_001341056, NP_001341057, NP_001341058, NP_001341059, NP_848661* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
| IPR039859 | PFA4/ZDH16/20/ERF2-like | Family |
Pfam: PF01529
Catalyzed reactions (Rhea), 1 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
UniProt features (12 total): topological domain 5, transmembrane region 4, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IVQ6-F1 | 87.81 | 0.63 |
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): 120 (s-palmitoyl cysteine intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-203615 | eNOS activation |
| R-HSA-9009391 | Extra-nuclear estrogen signaling |
MSigDB gene sets: 294 (showing top):
GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, YAATNRNNNYNATT_UNKNOWN, ACTACCT_MIR196A_MIR196B, GOBP_CIRCULATORY_SYSTEM_PROCESS, STAEGE_EWING_FAMILY_TUMOR, RORA1_01, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, NKX25_02, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, LANG_MYB_FAMILY_TARGETS, TGACCTY_ERR1_Q2
GO Biological Process (9): hair follicle development (GO:0001942), regulation of vascular associated smooth muscle contraction (GO:0003056), protein targeting to membrane (GO:0006612), peptidyl-L-cysteine S-palmitoylation (GO:0018230), nitric oxide metabolic process (GO:0046209), sebaceous gland development (GO:0048733), adrenergic receptor signaling pathway (GO:0071875), regulation of establishment of endothelial barrier (GO:1903140), regulation of leukocyte adhesion to arterial endothelial cell (GO:1904997)
GO Molecular Function (5): palmitoyltransferase activity (GO:0016409), protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)
GO Cellular Component (5): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of nitric oxide: NOS3 activation and regulation | 1 |
| ESR-mediated signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| hair cycle process | 1 |
| anatomical structure development | 1 |
| skin epidermis development | 1 |
| regulation of smooth muscle contraction | 1 |
| vascular associated smooth muscle contraction | 1 |
| regulation of vasoconstriction | 1 |
| protein targeting | 1 |
| establishment of protein localization to membrane | 1 |
| peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine | 1 |
| protein palmitoylation | 1 |
| reactive nitrogen species metabolic process | 1 |
| skin development | 1 |
| gland development | 1 |
| adrenergic receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| establishment of endothelial barrier | 1 |
| regulation of endothelial cell development | 1 |
| leukocyte adhesion to arterial endothelial cell | 1 |
| regulation of leukocyte adhesion to vascular endothelial cell | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| palmitoyltransferase activity | 1 |
| protein-cysteine S-acyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
510 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC21 | MPDZ | O75970 | 592 |
| ZDHHC21 | NHLRC3 | Q5JS37 | 570 |
| ZDHHC21 | LNX1 | Q8TBB1 | 548 |
| ZDHHC21 | ESR1 | P03372 | 538 |
| ZDHHC21 | NFIB | O00712 | 520 |
| ZDHHC21 | PRR14L | Q5THK1 | 517 |
| ZDHHC21 | GLDC | P23378 | 504 |
| ZDHHC21 | RCC2 | Q9P258 | 491 |
| ZDHHC21 | ZDHHC16 | Q969W1 | 474 |
| ZDHHC21 | ZDHHC13 | Q8IUH4 | 472 |
| ZDHHC21 | TYRP1 | P17643 | 464 |
| ZDHHC21 | ZDHHC6 | Q9H6R6 | 441 |
| ZDHHC21 | ABHD17B | Q5VST6 | 426 |
| ZDHHC21 | FREM1 | Q5H8C1 | 425 |
| ZDHHC21 | PPIP5K2 | O43314 | 418 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZDHHC21 | CHODL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | TRIM59 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | TMEM167B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNASEK | ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PGRMC2 | ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MUC1 | ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | ELOVL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | FAM210B | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | MTERF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC21 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC7A1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CCL1 | ZDHHC21 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC21 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADGRE5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| DPEP1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN5 | KLHL2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (29): ZDHHC21 (Two-hybrid), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Affinity Capture-MS), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), ZDHHC21 (Two-hybrid), MUC1 (Two-hybrid)
ESM2 similar proteins: A0A0R4IF99, A2VDT6, B1H1H3, B8A4F0, E7F021, E7F587, E7F6D7, F1Q7H8, F1QAM1, F1QGD2, F1QHM7, F1QXD3, F1RE57, O14345, O74384, P42836, Q06551, Q2HJ95, Q2TGJ4, Q2TGK3, Q500Z2, Q5BLG4, Q5FWL7, Q5M757, Q5RB84, Q5REH2, Q6C7D1, Q6CPU8, Q6CQB5, Q6DHI1, Q6FSS4, Q6FW70, Q75AW7, Q7XA86, Q8BGJ0, Q8IVQ6, Q8R173, Q8VYP5, Q91WU6, Q923G5
Diamond homologs: A2VDT6, B1H1H3, Q5RB84, Q8IVQ6, Q9D270
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2340 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:14619637:A:AC | donor_gain | 1.0000 |
| 9:14619638:C:CC | donor_gain | 1.0000 |
| 9:14619638:CAT:C | donor_gain | 1.0000 |
| 9:14619638:CATAT:C | donor_gain | 1.0000 |
| 9:14639887:TATAC:T | donor_loss | 1.0000 |
| 9:14639888:ATACT:A | donor_loss | 1.0000 |
| 9:14639889:TACT:T | donor_loss | 1.0000 |
| 9:14639890:ACTTA:A | donor_loss | 1.0000 |
| 9:14639891:CT:C | donor_loss | 1.0000 |
| 9:14639892:TTACT:T | donor_loss | 1.0000 |
| 9:14639893:TACT:T | donor_loss | 1.0000 |
| 9:14639894:A:AC | donor_gain | 1.0000 |
| 9:14639894:ACTG:A | donor_loss | 1.0000 |
| 9:14639895:C:CA | donor_gain | 1.0000 |
| 9:14639895:CT:C | donor_gain | 1.0000 |
| 9:14639895:CTG:C | donor_gain | 1.0000 |
| 9:14639895:CTGT:C | donor_gain | 1.0000 |
| 9:14639895:CTGTG:C | donor_gain | 1.0000 |
| 9:14640012:CCTAA:C | acceptor_loss | 1.0000 |
| 9:14640014:T:C | acceptor_loss | 1.0000 |
| 9:14693225:TCA:T | donor_loss | 1.0000 |
| 9:14693226:CA:C | donor_loss | 1.0000 |
| 9:14693227:A:AC | donor_gain | 1.0000 |
| 9:14693228:C:CC | donor_gain | 1.0000 |
| 9:14693228:CCGT:C | donor_gain | 1.0000 |
| 9:14619630:TATAC:T | donor_loss | 0.9900 |
| 9:14619631:ATAC:A | donor_loss | 0.9900 |
| 9:14619632:TACTT:T | donor_loss | 0.9900 |
| 9:14619633:ACT:A | donor_loss | 0.9900 |
| 9:14619634:C:CG | donor_loss | 0.9900 |
AlphaMissense
1766 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:14662222:A:G | C120R | 1.000 |
| 9:14662223:G:C | H119Q | 1.000 |
| 9:14662223:G:T | H119Q | 1.000 |
| 9:14662226:A:C | H118Q | 1.000 |
| 9:14662226:A:T | H118Q | 1.000 |
| 9:14662228:G:C | H118D | 1.000 |
| 9:14662262:A:C | C106W | 1.000 |
| 9:14662264:A:G | C106R | 1.000 |
| 9:14662265:G:C | H105Q | 1.000 |
| 9:14662265:G:T | H105Q | 1.000 |
| 9:14662270:G:C | H104D | 1.000 |
| 9:14662296:C:G | C95S | 1.000 |
| 9:14662297:A:T | C95S | 1.000 |
| 9:14662306:A:G | C92R | 1.000 |
| 9:14619031:A:G | W245R | 0.999 |
| 9:14619031:A:T | W245R | 0.999 |
| 9:14658848:A:C | F135L | 0.999 |
| 9:14658848:A:T | F135L | 0.999 |
| 9:14658849:A:C | F135C | 0.999 |
| 9:14658849:A:G | F135S | 0.999 |
| 9:14658850:A:G | F135L | 0.999 |
| 9:14658860:A:C | N131K | 0.999 |
| 9:14658860:A:T | N131K | 0.999 |
| 9:14658870:C:A | G128V | 0.999 |
| 9:14658870:C:T | G128D | 0.999 |
| 9:14658871:C:G | G128R | 0.999 |
| 9:14658873:A:T | V127D | 0.999 |
| 9:14658875:A:C | C126W | 0.999 |
| 9:14658876:C:A | C126F | 0.999 |
| 9:14658876:C:G | C126S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000020482 (9:14619106 A>G), RS1000029637 (9:14651486 C>A), RS1000051852 (9:14618865 G>A), RS1000063008 (9:14656550 A>G), RS1000069335 (9:14595289 A>T), RS1000078438 (9:14642747 A>C), RS1000089138 (9:14660914 T>G), RS1000092173 (9:14690295 T>C), RS1000124170 (9:14618647 A>G,T), RS1000167420 (9:14674260 A>G), RS1000170784 (9:14611728 G>A,C), RS1000178183 (9:14604078 G>C), RS1000194152 (9:14606848 A>C), RS1000201879 (9:14611519 G>C), RS1000202681 (9:14680611 TAA>T)
Disease associations
OMIM: gene MIM:614605 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001474_3 | Hypothyroidism | 7.000000e-06 |
| GCST001523_41 | Visceral adipose tissue adjusted for BMI | 7.000000e-06 |
| GCST008829_11 | Neuritic plaque | 8.000000e-06 |
| GCST009391_1330 | Metabolite levels | 8.000000e-06 |
| GCST010482_3 | Cardiovascular death or myocardial infarction in response to clopidogrel treatment | 6.000000e-06 |
| GCST011768_5 | Schizophrenia | 7.000000e-09 |
| GCST011769_3 | Schizophrenia | 1.000000e-09 |
| GCST90000047_193 | Age at first sexual intercourse | 6.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006798 | neuritic plaque measurement |
| EFO:0010361 | lysophosphatidylcholine 18:2 measurement |
| EFO:0006919 | cardiovascular event measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 4 |
| bisphenol A | decreases expression, affects cotreatment | 2 |
| sodium arsenite | increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cinnamaldehyde | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| vanadyl sulfate | decreases expression | 1 |
| avobenzone | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Succimer | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Quercetin | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TY87 | HAP1 ZDHHC21 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypothyroidism