ZDHHC17

Summary

ZDHHC17 (zDHHC palmitoyltransferase 17, HGNC:18412) is a protein-coding gene on chromosome 12q21.2, encoding Palmitoyltransferase ZDHHC17 (Q8IUH5). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and is involved in a variety of cellular processes.

Enables identical protein binding activity and protein-cysteine S-palmitoyltransferase activity. Involved in lipoprotein transport; protein palmitoylation; and regulation of programmed cell death. Located in Golgi membrane and Golgi-associated vesicle membrane.

Source: NCBI Gene 23390 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 80 total
• MANE Select transcript: NM_015336

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18412
Approved symbol	ZDHHC17
Name	zDHHC palmitoyltransferase 17
Location	12q21.2
Locus type	gene with protein product
Status	Approved
Aliases	HIP14, HYPH, KIAA0946
Ensembl gene	ENSG00000186908
Ensembl biotype	protein_coding
OMIM	607799
Entrez	23390

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 7 nonsense_mediated_decay, 4 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000426126, ENST00000546778, ENST00000547604, ENST00000547620, ENST00000547673, ENST00000549010, ENST00000549682, ENST00000549944, ENST00000550163, ENST00000550244, ENST00000550789, ENST00000550876, ENST00000551407, ENST00000552453, ENST00000552693, ENST00000553091, ENST00000968885

RefSeq mRNA: 2 — MANE Select: NM_015336 NM_001359626, NM_015336

CCDS: CCDS44946

Canonical transcript exons

ENST00000426126 — 17 exons

Exon	Start	End
ENSE00001376109	76826908	76827050
ENSE00001703158	76828390	76828490
ENSE00001768904	76841982	76842106
ENSE00002389384	76850847	76853696
ENSE00003498396	76815146	76815210
ENSE00003515142	76849376	76849470
ENSE00003534453	76805317	76805439
ENSE00003538974	76822406	76822531
ENSE00003545612	76809713	76809857
ENSE00003605922	76842919	76842981
ENSE00003607607	76797434	76797537
ENSE00003610524	76815857	76816019
ENSE00003613939	76846596	76846679
ENSE00003627760	76809043	76809120
ENSE00003630857	76848233	76848390
ENSE00003648392	76764115	76764329
ENSE00003679797	76845709	76845802

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 97.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9484 / max 387.5476, expressed in 1782 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126954	12.6572	1758
126953	1.1770	624
126952	0.5959	323
126955	0.2968	113
126951	0.2214	73

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	97.92	gold quality
cerebellar vermis	UBERON:0004720	97.64	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.38	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.20	gold quality
substantia nigra pars compacta	UBERON:0001965	97.09	gold quality
lateral globus pallidus	UBERON:0002476	97.09	gold quality
superior vestibular nucleus	UBERON:0007227	96.94	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.87	gold quality
subthalamic nucleus	UBERON:0001906	96.77	gold quality
pons	UBERON:0000988	96.52	gold quality
medulla oblongata	UBERON:0001896	96.48	gold quality
calcaneal tendon	UBERON:0003701	96.35	gold quality
adrenal tissue	UBERON:0018303	96.29	gold quality
middle temporal gyrus	UBERON:0002771	96.11	gold quality
germinal epithelium of ovary	UBERON:0001304	96.10	gold quality
postcentral gyrus	UBERON:0002581	96.00	gold quality
inferior vagus X ganglion	UBERON:0005363	95.95	gold quality
parietal lobe	UBERON:0001872	95.88	gold quality
endothelial cell	CL:0000115	95.84	gold quality
orbitofrontal cortex	UBERON:0004167	95.83	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.82	gold quality
inferior olivary complex	UBERON:0002127	95.57	gold quality
trigeminal ganglion	UBERON:0001675	95.52	gold quality
visceral pleura	UBERON:0002401	95.43	gold quality
superior frontal gyrus	UBERON:0002661	95.39	gold quality
superficial temporal artery	UBERON:0001614	95.22	gold quality
pleura	UBERON:0000977	95.19	gold quality
tibia	UBERON:0000979	95.17	gold quality
CA1 field of hippocampus	UBERON:0003881	95.08	gold quality
occipital lobe	UBERON:0002021	95.04	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	11.65
E-ANND-3	yes	5.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

257 targeting ZDHHC17, 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-4262	100.00	73.26	3931
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
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-4692	100.00	67.32	2066
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
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-520G-5P	99.99	66.76	658
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3692-3P	99.98	70.27	2139

Literature-anchored findings (GeneRIF, showing 17)

• HIP14 is a protein: palmitoyl acyltransferase (PMID:15489887)
• has the ability to induce colony formation in cell culture, anchorage-independent growth, and tumors in mice (PMID:15489887)
• 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)
• The ankyrin repeat domain of Huntingtin interacting protein 14 contains a surface aromatic cage, a potential site for methyl-lysine binding. (PMID:19434754)
• Coexpression of an independent palmitoyl acyltransferase (HIP14) with the GODZ-DHHS mutant also rescued Ca(2+) transport. (PMID:19955568)
• a subset of DHHCs controls STREX palmitoylation and function; DHHC17 may preferentially target cysteine-rich domains (PMID:20507996)
• Immunohistochemical analysis of pancreatic sections demonstrated that HIP14 is almost exclusively expressed in insulin-positive cells in islets of Langerhans. (PMID:21705657)
• Novel peptides have been developed that target the jun N-terminus kinase (JNK)-interacting motif on zD17 to selectively block enhancement of the zD17-Jun N terminus kinase (JNK) interaction and the activation of JNK isoforms 2 and 3. (PMID:21849558)
• Low levels of human HIP14 are sufficient to rescue neuropathological, behavioural, and enzymatic defects due to loss of murine HIP14 in Hip14-/- mice. (PMID:22649491)
• DHHC17 is a ClipR-59 palmitoyltransferase that modulates ClipR-59 plasma membrane binding. (PMID:24001771)
• 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)
• HIP14 shares a high proportion of interactors with HTT resulting in defective palmitoylation of the target proteins which might be an important mechanism towards pathogenesis of Huntington’s disease. (PMID:24705354)
• 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)
• CPj0783 might cause abnormal vesicle-mediated transport by interacting with HIP14. (PMID:27611675)
• Data reveal the structural basis of interaction between DHHC17, and SNAP25b, a canonical substrate. These results show the role of critical residues for substrate binding and palmitate transfer and the involvement of the same residues in binding Huntingtin, another important substrate of DHHC17. (PMID:28757145)
• The large number of zDABM sequences within the human proteome suggests that zDHHC17 may be an interaction hub regulating many cellular processes. (PMID:28882895)
• Activation of JNK and p38 MAPK Mediated by ZDHHC17 Drives Glioblastoma Multiforme Development and Malignant Progression. (PMID:31938047)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zdhhc17	ENSDARG00000070441
mus_musculus	Zdhhc17	ENSMUSG00000035798
rattus_norvegicus	Zdhhc17	ENSRNOG00000003803
drosophila_melanogaster	Hip14	FBGN0259824

Paralogs (2): ZDHHC13 (ENSG00000177054), ANKRD35 (ENSG00000198483)

Protein

Protein identifiers

Palmitoyltransferase ZDHHC17 — Q8IUH5 (reviewed: Q8IUH5)

Alternative names: Acyltransferase ZDHHC17, DHHC domain-containing cysteine-rich protein 17, Huntingtin yeast partner H, Huntingtin-interacting protein 14, Huntingtin-interacting protein 3, Huntingtin-interacting protein H, Putative MAPK-activating protein PM11, Putative NF-kappa-B-activating protein 205, Zinc finger DHHC domain-containing protein 17

All UniProt accessions (10): Q8IUH5, F8VPW2, F8VUG7, F8VX48, H0YHF0, H0YHW0, H0YI74, H0YIK0, H0YIN1, H0YIP7

UniProt curated annotations — full annotation on UniProt →

Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and is involved in a variety of cellular processes. Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA. Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT. Also palmitoylates neuronal protein GPM6A as well as SPRED1 and SPRED3. Could also play a role in axonogenesis through the regulation of NTRK1 and the downstream ERK1/ERK2 signaling cascade. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. May play a role in Mg(2+) transport. Could also palmitoylate DNAJC5 and regulate its localization to the Golgi membrane. Palmitoylates CASP6, thereby preventing its dimerization and subsequent activation.

Subunit / interactions. Interacts (via ANK repeats) with numerous proteins (via the consensus sequence motif [VIAP]-[VIT]-x-x-Q-P). Interacts (via ANK repeats) with CLIP3. Interacts (via ANK repeats) with HTT; this interaction is inversely correlated to the length of the polyglutamine tract added to the huntingtin protein in Huntington disease. Interacts (via ANK repeats) with DNAJC5 (via C-terminus). Interacts (via ANK repeats) with MAP6. Interacts (via ANK repeats) with SNAP23. Interacts (via ANK repeats) with SNAP25. Interacts (via ANK repeats) with EVL. Interacts with SPRED1 and SPRED3. Interacts with GPM6A and OPTN. May interact (via ANK repeats) with SPRED2. May interact with NTRK1; may regulate its localization and function.

Subcellular location. Golgi apparatus membrane. Cytoplasmic vesicle membrane. Presynaptic cell membrane.

Tissue specificity. Expressed in all brain regions. Expression is highest in the cortex, cerebellum, occipital lobe and caudate and lowest in the spinal cord. Expression is also seen in testis, pancreas, heart and kidney.

Post-translational modifications. Autopalmitoylated. Autopalmitoylation has a regulatory role in ZDHHC17-mediated Mg(2+) transport.

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?
Q8IUH5-1	1	yes
Q8IUH5-2	2
Q8IUH5-3	3

RefSeq proteins (2): NP_001346555, NP_056151* (*=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

Enzyme classification (BRENDA):

• EC 2.3.1.225 — protein S-acyltransferase (BRENDA: 9 organisms, 108 substrates, 15 inhibitors, 6 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
PALMITOYL-COA	0.0052–0.0059	2
[N-MYRISTOYLATED GLY-CYS-GLY TRIPEPTIDE]-L-CYSTE	0.0008–0.0013	2

Catalyzed reactions (Rhea), 3 shown:

• L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)
• L-cysteinyl-[protein] + tetradecanoyl-CoA = S-tetradecanoyl-L-cysteinyl-[protein] + CoA (RHEA:59736)
• L-cysteinyl-[protein] + octadecanoyl-CoA = S-octadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:59740)

UniProt features (56 total): helix 15, repeat 7, topological domain 6, transmembrane region 6, mutagenesis site 6, splice variant 5, sequence conflict 4, turn 2, chain 1, domain 1, region of interest 1, active site 1, sequence variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3EU9	X-RAY DIFFRACTION	1.99
5W7I	X-RAY DIFFRACTION	2.1
5W7J	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUH5-F1	87.58	0.76

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): 467 (s-palmitoyl cysteine intermediate)

Mutagenesis-validated functional residues (6):

Position	Phenotype
67	decreased binding affinity for snap25.
89	no effect on snap25 binding.
100	abolishes snap25 binding.
122	mildly decreased binding affinity for snap25.
130	abolishes snap25 and htt binding.
467	abolishes palmitoyltransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 263 (showing top): E2F_Q4_01, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, chr12q21, GOBP_LIPOPROTEIN_BIOSYNTHETIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOCC_GOLGI_ASSOCIATED_VESICLE, AAAGGGA_MIR204_MIR211, GOBP_SYNAPTIC_SIGNALING, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_LIPOPROTEIN_LOCALIZATION

GO Biological Process (8): axonogenesis (GO:0007409), protein palmitoylation (GO:0018345), lipoprotein transport (GO:0042953), regulation of programmed cell death (GO:0043067), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), regulation of neurotrophin TRK receptor signaling pathway (GO:0051386), regulation of ERK1 and ERK2 cascade (GO:0070372), regulation of modification of synapse structure, modulating synaptic transmission (GO:0098987)

GO Molecular Function (9): signaling receptor binding (GO:0005102), palmitoyltransferase activity (GO:0016409), protein-cysteine S-myristoyltransferase activity (GO:0019705), protein-cysteine S-palmitoyltransferase activity (GO:0019706), identical protein binding (GO:0042802), protein-cysteine S-stearoyltransferase activity (GO:0140439), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (13): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi-associated vesicle membrane (GO:0030660), presynaptic membrane (GO:0042734), glutamatergic synapse (GO:0098978), perforant pathway to dendrate granule cell synapse (GO:0140240), postsynaptic Golgi apparatus (GO:0150051), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-cysteine S-acyltransferase activity	3
protein binding	2
Golgi apparatus	2
bounding membrane of organelle	2
cytoplasm	2
synapse	2
cellular anatomical structure	2
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
protein lipidation	1
protein acylation	1
protein transport	1
lipoprotein localization	1
programmed cell death	1
regulation of cellular process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
regulation of signal transduction	1
neurotrophin TRK receptor signaling pathway	1
regulation of cellular response to growth factor stimulus	1
regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
chemical synaptic transmission	1
modulation of chemical synaptic transmission	1
regulation of modification of synaptic structure	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
myristoyltransferase activity	1
palmitoyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi-associated vesicle	1
cytoplasmic vesicle membrane	1
synaptic membrane	1
presynapse	1
postsynapse	1

Protein interactions and networks

STRING

1662 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZDHHC17	HTT	P42858	986
ZDHHC17	SNAP25	P13795	828
ZDHHC17	PALM	O75781	745
ZDHHC17	DNAJC5	Q9H3Z4	690
ZDHHC17	ZDHHC22	Q8N966	669
ZDHHC17	SNAP23	O00161	604
ZDHHC17	PPT1	P50897	595
ZDHHC17	ZDHHC3	Q9NYG2	590
ZDHHC17	SYT7	O43581	588
ZDHHC17	CALCOCO1	Q9P1Z2	578
ZDHHC17	SYT1	P21579	569
ZDHHC17	PACSIN1	Q9BY11	521
ZDHHC17	GAD2	Q05329	513
ZDHHC17	PRPF40B	Q6NWY9	512
ZDHHC17	ZDHHC8	Q9ULC8	510

IntAct

451 interactions, top by confidence:

A	B	Type	Score
HTT	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.810
ZDHHC17	HTT	psi-mi:“MI:0216”(palmitoylation reaction)	0.810
ZDHHC17	HTT	psi-mi:“MI:0915”(physical association)	0.810
ZDHHC17	SPRY2	psi-mi:“MI:0915”(physical association)	0.670
SPRY2	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.670
DNAJC5	ZDHHC17	psi-mi:“MI:0403”(colocalization)	0.640
DNAJC5	ZDHHC17	psi-mi:“MI:2364”(proximity)	0.640
DNAJC5	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.640

BioGRID (382): ZDHHC17 (Two-hybrid), ADD1 (Two-hybrid), CAPN2 (Two-hybrid), CBS (Two-hybrid), CNP (Two-hybrid), EEF1A1 (Two-hybrid), EEF1G (Two-hybrid), GPM6A (Two-hybrid), UBE2K (Two-hybrid), LASP1 (Two-hybrid), PIK3R1 (Two-hybrid), SLC1A3 (Two-hybrid), TRIP10 (Two-hybrid), FEZ2 (Two-hybrid), ACTR1B (Two-hybrid)

ESM2 similar proteins: A0A0R4IQZ2, A5WVX9, B1H1H3, E7F587, E9PTT0, F1QAM1, F1QGD2, P0CS66, P0CS67, P42836, Q09701, Q12013, Q2HJ95, Q2TGJ4, Q2TGK3, Q3EC11, Q4I8B6, Q4R690, Q4X251, Q52T38, Q58DT3, Q5B0V6, Q5BLG4, Q5FWL7, Q5NVB9, Q5REH2, Q6C4W5, Q6C520, Q6DHI1, Q750R7, Q755Y0, Q75AW7, Q7S3M5, Q7Z8U2, Q80TN5, Q875M2, Q8BGJ0, Q8IUH4, Q8IUH5, Q8R173

Diamond homologs: A0A0R4IF99, A5WVX9, B8A4F0, E7F587, E9PTT0, F1Q7H8, F1QXD3, P0CS66, P0CS67, P42836, P59267, Q2TGJ4, Q2TGK3, Q4R7E2, Q552M6, Q58CU4, Q58DT3, Q59QL0, Q5ADN9, Q5W0Z9, Q6BHT4, Q6C4W5, Q6DHI1, Q6FW70, Q6FXC6, Q80TN5, Q8BGJ0, Q8IUH5, Q8R173, Q8VYP5, Q91WU6, Q923G5, Q969W1, Q96MV8, Q9ESG8, Q9FLM3, Q9JKR5, Q9M1K5, Q9M306, Q9NXF8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 172 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.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of Rho protein signal transduction	5	19.1×	3e-03
positive regulation of cytosolic calcium ion concentration	9	6.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

80 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3729 predictions. Top by Δscore:

Variant	Effect	Δscore
12:76764327:GAG:G	donor_gain	1.0000
12:76764328:AGGTG:A	donor_loss	1.0000
12:76764330:G:GA	donor_loss	1.0000
12:76764331:T:A	donor_loss	1.0000
12:76795160:G:GT	donor_gain	1.0000
12:76797538:G:GG	donor_gain	1.0000
12:76805312:TCTAG:T	acceptor_loss	1.0000
12:76805314:TAGAT:T	acceptor_loss	1.0000
12:76805315:A:AG	acceptor_gain	1.0000
12:76805316:G:GT	acceptor_gain	1.0000
12:76805316:GA:G	acceptor_gain	1.0000
12:76805316:GAT:G	acceptor_gain	1.0000
12:76805316:GATA:G	acceptor_gain	1.0000
12:76805316:GATAT:G	acceptor_gain	1.0000
12:76805435:GTCAA:G	donor_gain	1.0000
12:76805436:TCAA:T	donor_gain	1.0000
12:76805436:TCAAG:T	donor_loss	1.0000
12:76805437:CAA:C	donor_gain	1.0000
12:76805437:CAAGT:C	donor_loss	1.0000
12:76805439:AGT:A	donor_loss	1.0000
12:76805440:GT:G	donor_loss	1.0000
12:76805440:GTAT:G	donor_gain	1.0000
12:76805441:T:A	donor_loss	1.0000
12:76809711:A:AG	acceptor_gain	1.0000
12:76809712:G:GG	acceptor_gain	1.0000
12:76809712:GACAA:G	acceptor_gain	1.0000
12:76812986:G:GT	donor_gain	1.0000
12:76815136:A:AG	acceptor_gain	1.0000
12:76815137:C:G	acceptor_gain	1.0000
12:76815141:ATCAG:A	acceptor_gain	1.0000

AlphaMissense

4208 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:76797530:G:C	A64P	1.000
12:76797531:C:A	A64D	1.000
12:76797534:C:A	T65K	1.000
12:76805317:A:C	Q66H	1.000
12:76805317:A:T	Q66H	1.000
12:76805321:G:A	G68R	1.000
12:76805321:G:C	G68R	1.000
12:76805322:G:A	G68E	1.000
12:76805322:G:T	G68V	1.000
12:76805336:T:C	C73R	1.000
12:76805337:G:A	C73Y	1.000
12:76805338:T:G	C73W	1.000
12:76805391:T:A	V91D	1.000
12:76805400:T:A	L94H	1.000
12:76805403:A:G	H95R	1.000
12:76805405:T:A	W96R	1.000
12:76805405:T:C	W96R	1.000
12:76805406:G:C	W96S	1.000
12:76805407:G:C	W96C	1.000
12:76805407:G:T	W96C	1.000
12:76805408:G:C	A97P	1.000
12:76805409:C:A	A97D	1.000
12:76805411:G:C	A98P	1.000
12:76805412:C:A	A98D	1.000
12:76805415:T:A	I99N	1.000
12:76805415:T:C	I99T	1.000
12:76805415:T:G	I99S	1.000
12:76805419:T:A	N100K	1.000
12:76805419:T:G	N100K	1.000
12:76809080:G:A	G120R	1.000

dbSNP variants (sampled 300 via entrez): RS1000029072 (12:76803987 T>A,C), RS1000039879 (12:76845047 T>G), RS1000041760 (12:76776650 G>A), RS1000064257 (12:76812124 C>T), RS1000093271 (12:76811841 A>G), RS1000151270 (12:76770592 G>A,T), RS1000160699 (12:76831959 C>A), RS1000191878 (12:76836144 G>A), RS1000238982 (12:76785185 A>AT), RS1000243123 (12:76793434 G>A,C), RS1000244201 (12:76836318 T>C), RS1000248372 (12:76764393 G>T), RS1000329015 (12:76819519 TATA>T), RS1000399574 (12:76799264 A>C,G), RS1000414297 (12:76785423 T>C)

Disease associations

OMIM: gene MIM:607799 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST008473_34	Visceral fat	6.000000e-06
GCST009391_1474	Metabolite levels	3.000000e-06
GCST010422_1	Mean arterial pressure x educational attainment (some college) interaction (2df)	1.000000e-11
GCST010422_2	Mean arterial pressure x educational attainment (some college) interaction (2df)	2.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010407	triacylglycerol 48:4 measurement
EFO:0004784	self reported educational attainment
EFO:0006340	mean arterial pressure

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
Valproic Acid	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Cadmium	increases expression, increases abundance	1
Coumestrol	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Gold	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	increases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TY75	HAP1 ZDHHC17 (-) 1	Cancer cell line	Male
CVCL_TY76	HAP1 ZDHHC17 (-) 2	Cancer cell line	Male
CVCL_TY77	HAP1 ZDHHC17 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.