ZDHHC13
gene geneOn this page
Also known as FLJ10852FLJ10941HIP14L
Summary
ZDHHC13 (zDHHC palmitoyltransferase 13, HGNC:18413) is a protein-coding gene on chromosome 11p15.1, encoding Palmitoyltransferase ZDHHC13 (Q8IUH4). Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates.
Predicted to enable magnesium ion transmembrane transporter activity and palmitoyltransferase activity. Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum.
Source: NCBI Gene 54503 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 96 total
- MANE Select transcript:
NM_019028
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18413 |
| Approved symbol | ZDHHC13 |
| Name | zDHHC palmitoyltransferase 13 |
| Location | 11p15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10852, FLJ10941, HIP14L |
| Ensembl gene | ENSG00000177054 |
| Ensembl biotype | protein_coding |
| OMIM | 612815 |
| Entrez | 54503 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000399351, ENST00000446113, ENST00000524744, ENST00000525490, ENST00000530100, ENST00000530698, ENST00000532026, ENST00000532812, ENST00000862732, ENST00000862733, ENST00000931681
RefSeq mRNA: 2 — MANE Select: NM_019028
NM_001001483, NM_019028
CCDS: CCDS44550, CCDS44551
Canonical transcript exons
ENST00000446113 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001411114 | 19170411 | 19170568 |
| ENSE00001419622 | 19166302 | 19166385 |
| ENSE00002148400 | 19175822 | 19176415 |
| ENSE00002156419 | 19117168 | 19117276 |
| ENSE00003478783 | 19142978 | 19143123 |
| ENSE00003514057 | 19152559 | 19152684 |
| ENSE00003525457 | 19155796 | 19155929 |
| ENSE00003544925 | 19150727 | 19150791 |
| ENSE00003559170 | 19158940 | 19159040 |
| ENSE00003594947 | 19152158 | 19152320 |
| ENSE00003605738 | 19163303 | 19163427 |
| ENSE00003644328 | 19164301 | 19164363 |
| ENSE00003650308 | 19165052 | 19165145 |
| ENSE00003677587 | 19146181 | 19146303 |
| ENSE00003689282 | 19147596 | 19147673 |
| ENSE00003689489 | 19149187 | 19149331 |
| ENSE00003694317 | 19172723 | 19172820 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 95.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1056 / max 89.2489, expressed in 1782 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113359 | 10.7974 | 1775 |
| 113360 | 1.3082 | 667 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 95.92 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.30 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.53 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 93.69 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 93.67 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.22 | gold quality |
| oral cavity | UBERON:0000167 | 92.94 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.84 | gold quality |
| ventricular zone | UBERON:0003053 | 92.61 | gold quality |
| sperm | CL:0000019 | 92.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.89 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.86 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 91.34 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.18 | gold quality |
| bronchus | UBERON:0002185 | 90.50 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.24 | gold quality |
| rectum | UBERON:0001052 | 89.90 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.64 | gold quality |
| male germ cell | CL:0000015 | 89.50 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.20 | gold quality |
| gingiva | UBERON:0001828 | 88.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.47 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 88.43 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.02 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.73 | gold quality |
| secondary oocyte | CL:0000655 | 87.67 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.62 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.60 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting ZDHHC13, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| 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-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-7151-5P | 99.37 | 67.82 | 613 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-6507-3P | 99.35 | 67.32 | 1059 |
| HSA-MIR-361-5P | 98.95 | 70.16 | 1340 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-374A-3P | 98.87 | 67.82 | 1531 |
Literature-anchored findings (GeneRIF, showing 5)
- huntingtin interacting protein genes, HIP14 and HIP14L, encode Mg2+ transport proteins that are regulated by their innate palmitoyl acyltransferases thus fulfilling the characteristics of “chanzymes.” (PMID:18794299)
- Data show that deletion of huntingtin protein (HTT) amino acids 1-427 abolishes the interaction of HTT with palmitoyl acyltransferases huntingtin interacting protein 14 (HIP14) and huntingtin interacting protein 14-like (HIP14L). (PMID:24651384)
- This suggests that altered HIP14-HTT and HIP14L-HTT interactions in the presence of the HD mutation reduces palmitoylation and promotes mislocalization of HTT and other HIP14/HIP14L substrates (PMID:25849918)
- this is the first study to demonstrate that defects in ZDHHC13, a PAT, leads to phenotypes in mice, including non-thyroidal hypermetabolism, mitochondrial dysfunction, and abnormal lipid metabolism. (PMID:28526873)
- AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis. (PMID:36701140)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zdhhc13 | ENSDARG00000101144 |
| mus_musculus | Zdhhc13 | ENSMUSG00000030471 |
| rattus_norvegicus | Zdhhc13 | ENSRNOG00000014277 |
| drosophila_melanogaster | Hip14 | FBGN0259824 |
Paralogs (2): ZDHHC17 (ENSG00000186908), ANKRD35 (ENSG00000198483)
Protein
Protein identifiers
Palmitoyltransferase ZDHHC13 — Q8IUH4 (reviewed: Q8IUH4)
Alternative names: Huntingtin-interacting protein 14-related protein, Huntingtin-interacting protein HIP3RP, Putative MAPK-activating protein PM03, Putative NF-kappa-B-activating protein 209, Zinc finger DHHC domain-containing protein 13
All UniProt accessions (1): Q8IUH4
UniProt curated annotations — full annotation on UniProt →
Function. Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates. Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport.
Subunit / interactions. Interacts (via ANK repeats) with CLIP3. Interacts (via ANK repeats) with DNAJC5 (via C-terminus). Interacts (via ANK repeats) with HTT. Interacts (via ANK repeats) with MAP6. Interacts (via ANK repeats) with SNAP23. Interacts (via ANK repeats) with SNAP25. May interact (via ANK repeats) with SPRED2.
Subcellular location. Golgi apparatus membrane. Cytoplasmic vesicle membrane.
Domain organisation. The DHHC domain is required for palmitoyltransferase activity.
Similarity. Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IUH4-1 | 1 | yes |
| Q8IUH4-2 | 2 | |
| Q8IUH4-3 | 3 |
RefSeq proteins (2): NP_001001483, NP_061901* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001594 | Palmitoyltrfase_DHHC | Domain |
| IPR002110 | Ankyrin_rpt | Repeat |
| IPR036770 | Ankyrin_rpt-contain_sf | Homologous_superfamily |
Pfam: PF01529, PF12796
Catalyzed reactions (Rhea), 1 shown:
- L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
UniProt features (30 total): topological domain 7, repeat 7, transmembrane region 6, splice variant 2, sequence variant 2, sequence conflict 2, chain 1, domain 1, active site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IUH4-F1 | 87.71 | 0.68 |
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): 456 (s-palmitoyl cysteine intermediate)
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_MAGNESIUM_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, DOANE_RESPONSE_TO_ANDROGEN_DN, GOCC_GOLGI_ASSOCIATED_VESICLE, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, HOOI_ST7_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_TRANSMEMBRANE_TRANSPORT, SENESE_HDAC3_TARGETS_DN, NUYTTEN_EZH2_TARGETS_DN, GOCC_GOLGI_ASSOCIATED_VESICLE_MEMBRANE, MULLIGHAN_MLL_SIGNATURE_1_UP, GOMF_S_ACYLTRANSFERASE_ACTIVITY
GO Biological Process (2): positive regulation of canonical NF-kappaB signal transduction (GO:0043123), magnesium ion transmembrane transport (GO:1903830)
GO Molecular Function (6): magnesium ion transmembrane transporter activity (GO:0015095), 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 (7): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), Golgi-associated vesicle membrane (GO:0030660), Golgi apparatus (GO:0005794), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| bounding membrane of organelle | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| magnesium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| metal ion transmembrane transporter activity | 1 |
| magnesium ion transmembrane transport | 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 |
| cellular anatomical structure | 1 |
| Golgi-associated vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZDHHC13 | HTT | P42858 | 881 |
| ZDHHC13 | SNAP25 | P13795 | 833 |
| ZDHHC13 | PALM | O75781 | 832 |
| ZDHHC13 | ZDHHC6 | Q9H6R6 | 697 |
| ZDHHC13 | SYT7 | O43581 | 689 |
| ZDHHC13 | ZDHHC22 | Q8N966 | 686 |
| ZDHHC13 | ZDHHC8 | Q9ULC8 | 650 |
| ZDHHC13 | ZDHHC11 | Q9H8X9 | 639 |
| ZDHHC13 | ZDHHC1 | Q8WTX9 | 634 |
| ZDHHC13 | ZDHHC3 | Q9NYG2 | 614 |
| ZDHHC13 | PPT1 | P50897 | 589 |
| ZDHHC13 | SNAP23 | O00161 | 579 |
| ZDHHC13 | DLG4 | P78352 | 564 |
| ZDHHC13 | PPT2 | Q9UMR5 | 538 |
| ZDHHC13 | SYT1 | P21579 | 533 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| B3GAT3 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.640 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD83 | BTAF1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| WBP1 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| FANCD2OS | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNE3 | RIOK3 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| MRAP2 | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| WBP1 | HSPA12A | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | B4GALT3 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| KRTCAP3 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| CRLF2 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| RNF149 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| PLAC8L1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC5 | HIDE1 | psi-mi:“MI:0914”(association) | 0.350 |
| CX3CL1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCAP | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR6 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (88): ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Affinity Capture-RNA), ZDHHC13 (Proximity Label-MS), ZDHHC13 (Proximity Label-MS), ZDHHC13 (Affinity Capture-MS), ZDHHC13 (Proximity Label-MS), ZDHHC13 (Proximity Label-MS), ZDHHC13 (Proximity Label-MS)
ESM2 similar proteins: A0A077K8G3, A0A077K9K6, A0A0B4ZTQ2, A0A0B5A051, A0A0B5L778, A0A0U5CJV1, A0A1Y0BRF7, A0A3G9GNJ4, A0A455LLV4, A0A455ZJC3, A0A8D5M7V9, B9A1Q4, D3ZS74, E5RP65, F1DBA7, F4IQV7, F4JPW1, G0LET6, G1XTZ7, G3Y418, G5DBJ0, O22780, O80899, P9WEQ7, P9WEW7, P9WEX2, Q09701, Q0C8A6, Q2N2K0, Q3KQJ0, Q3SZN3, Q4R690, Q4WBI5, Q5AR21, Q5NVB9, Q67YT8, Q67ZM7, Q8IUH4, Q8TFH4, Q8VY13
Diamond homologs: A0A0R4IDP3, A2CEX1, A2VEY9, A5WVX9, B3DN87, C8VCL4, E1BLT8, E7F021, E7F587, E7FBS9, E7FH11, E9PTT0, E9QCD3, F1Q7H8, F1QAM1, F1QHM7, F1QX91, F1QXD3, F1R013, F1RE57, J9VJ99, O60069, O74384, O80685, P42836, P59267, P59268, Q04629, Q0VC89, Q10L01, Q2TGJ1, Q2TGJ4, Q2TGK3, Q2THW7, Q2THW8, Q2THW9, Q2THX0, Q2THX1, Q4R690, Q4WZL8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATR | “up-regulates activity” | ZDHHC13 | phosphorylation |
| ZDHHC13 | “up-regulates activity” | MC1R | palmitoylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 99 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 7 | 8.4× | 4e-03 |
| G alpha (i) signalling events | 9 | 5.7× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 5 | 12.7× | 9e-03 |
| positive regulation of cytosolic calcium ion concentration | 8 | 10.9× | 4e-04 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 7 | 9.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2466 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:19143123:AG:A | donor_loss | 1.0000 |
| 11:19143124:G:A | donor_loss | 1.0000 |
| 11:19143124:G:GG | donor_gain | 1.0000 |
| 11:19143125:TA:T | donor_loss | 1.0000 |
| 11:19143126:AA:A | donor_loss | 1.0000 |
| 11:19146177:T:TA | acceptor_gain | 1.0000 |
| 11:19146179:A:AG | acceptor_gain | 1.0000 |
| 11:19146180:G:GG | acceptor_gain | 1.0000 |
| 11:19146183:AC:A | acceptor_gain | 1.0000 |
| 11:19146299:GTAAA:G | donor_gain | 1.0000 |
| 11:19146303:AGTAA:A | donor_loss | 1.0000 |
| 11:19146304:G:C | donor_loss | 1.0000 |
| 11:19146304:G:GG | donor_gain | 1.0000 |
| 11:19147669:ATCCG:A | donor_loss | 1.0000 |
| 11:19147670:TCCGG:T | donor_loss | 1.0000 |
| 11:19147671:CCGGT:C | donor_loss | 1.0000 |
| 11:19147672:CGG:C | donor_loss | 1.0000 |
| 11:19147674:G:T | donor_loss | 1.0000 |
| 11:19147675:T:C | donor_loss | 1.0000 |
| 11:19149185:A:AG | acceptor_gain | 1.0000 |
| 11:19149186:G:GG | acceptor_gain | 1.0000 |
| 11:19149186:GACAA:G | acceptor_gain | 1.0000 |
| 11:19149328:ACAGG:A | donor_loss | 1.0000 |
| 11:19149330:AGGTA:A | donor_loss | 1.0000 |
| 11:19149331:GGTA:G | donor_loss | 1.0000 |
| 11:19149333:T:A | donor_loss | 1.0000 |
| 11:19150725:A:AG | acceptor_gain | 1.0000 |
| 11:19150726:G:GG | acceptor_gain | 1.0000 |
| 11:19150726:GA:G | acceptor_gain | 1.0000 |
| 11:19150726:GAGT:G | acceptor_gain | 1.0000 |
AlphaMissense
4108 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:19146269:T:A | W88R | 1.000 |
| 11:19146269:T:C | W88R | 1.000 |
| 11:19146271:G:C | W88C | 1.000 |
| 11:19146271:G:T | W88C | 1.000 |
| 11:19146202:T:G | C65W | 0.999 |
| 11:19146270:G:C | W88S | 0.999 |
| 11:19146272:G:C | A89P | 0.999 |
| 11:19146275:G:C | A90P | 0.999 |
| 11:19146276:C:A | A90D | 0.999 |
| 11:19147648:T:C | S117P | 0.999 |
| 11:19147655:C:A | P119H | 0.999 |
| 11:19147663:T:A | W122R | 0.999 |
| 11:19147663:T:C | W122R | 0.999 |
| 11:19147665:G:C | W122C | 0.999 |
| 11:19147665:G:T | W122C | 0.999 |
| 11:19147666:G:C | A123P | 0.999 |
| 11:19147673:G:C | R125P | 0.999 |
| 11:19149216:T:C | L135S | 0.999 |
| 11:19149315:T:C | L168P | 0.999 |
| 11:19146181:A:C | Q58H | 0.998 |
| 11:19146181:A:T | Q58H | 0.998 |
| 11:19146200:T:C | C65R | 0.998 |
| 11:19146201:G:A | C65Y | 0.998 |
| 11:19146231:T:A | V75D | 0.998 |
| 11:19146264:T:A | L86H | 0.998 |
| 11:19146273:C:A | A89D | 0.998 |
| 11:19146279:T:A | I91N | 0.998 |
| 11:19147655:C:G | P119R | 0.998 |
| 11:19147658:T:C | L120P | 0.998 |
| 11:19147667:C:A | A123D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000128709 (11:19142796 G>A,C), RS1000131588 (11:19138152 T>A,C), RS1000241728 (11:19133159 T>G), RS1000273436 (11:19162376 C>T), RS1000295298 (11:19143877 C>A), RS1000385384 (11:19156867 C>G), RS1000449711 (11:19137565 A>G), RS1000540321 (11:19163710 A>G), RS1000563317 (11:19122443 C>T), RS1000622222 (11:19134162 T>C), RS1000661933 (11:19175463 A>C,G,T), RS1000688865 (11:19170930 A>G), RS1000736393 (11:19170409 A>C), RS1000763890 (11:19163374 A>T), RS1000797494 (11:19134564 G>A)
Disease associations
OMIM: gene MIM:612815 | 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
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7HU | Ubigene HEK293T ZDHHC13 KO | Transformed cell line | Female |
| CVCL_TY68 | HAP1 ZDHHC13 (-) 1 | Cancer cell line | Male |
| CVCL_TY69 | HAP1 ZDHHC13 (-) 2 | 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.