ZDHHC15

Summary

ZDHHC15 (zDHHC palmitoyltransferase 15, HGNC:20342) is a protein-coding gene on chromosome Xq13.3, encoding Palmitoyltransferase ZDHHC15 (Q96MV8). Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates.

The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 158866 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, X-linked 91 (Limited, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 125 total — 1 pathogenic, 1 likely-pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_144969

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20342
Approved symbol	ZDHHC15
Name	zDHHC palmitoyltransferase 15
Location	Xq13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31812, MRX91, DHHC15
Ensembl gene	ENSG00000102383
Ensembl biotype	protein_coding
OMIM	300576
Entrez	158866

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000373367, ENST00000482827, ENST00000541184, ENST00000858993, ENST00000858994, ENST00000935747, ENST00000935748, ENST00000968615, ENST00000968616

RefSeq mRNA: 2 — MANE Select: NM_144969 NM_001146256, NM_144969

CCDS: CCDS14430, CCDS55454

Canonical transcript exons

ENST00000373367 — 12 exons

Exon	Start	End
ENSE00000898995	75429078	75429198
ENSE00001092546	75431451	75431520
ENSE00001092547	75478891	75478985
ENSE00001092550	75379120	75379198
ENSE00001302556	75505821	75505847
ENSE00001305364	75429948	75429980
ENSE00001391021	75450802	75450922
ENSE00001460387	75368427	75372945
ENSE00001958393	75522889	75523037
ENSE00003500562	75417087	75417190
ENSE00003548718	75421864	75421990
ENSE00003611916	75424652	75424784

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 80.11.

FANTOM5 (CAGE): breadth broad, TPM avg 3.5758 / max 63.0392, expressed in 714 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199776	2.7194	644
199777	0.8564	482

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.11	gold quality
ventricular zone	UBERON:0003053	79.37	gold quality
ganglionic eminence	UBERON:0004023	79.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.92	gold quality
cortical plate	UBERON:0005343	76.47	gold quality
buccal mucosa cell	CL:0002336	75.29	gold quality
calcaneal tendon	UBERON:0003701	73.86	gold quality
parotid gland	UBERON:0001831	70.85	gold quality
descending thoracic aorta	UBERON:0002345	69.53	gold quality
islet of Langerhans	UBERON:0000006	68.88	gold quality
smooth muscle tissue	UBERON:0001135	68.79	gold quality
prefrontal cortex	UBERON:0000451	68.08	gold quality
thoracic aorta	UBERON:0001515	68.07	gold quality
ascending aorta	UBERON:0001496	67.94	gold quality
right coronary artery	UBERON:0001625	67.60	gold quality
aorta	UBERON:0000947	67.23	gold quality
popliteal artery	UBERON:0002250	66.88	gold quality
tibial artery	UBERON:0007610	66.86	gold quality
right atrium auricular region	UBERON:0006631	66.70	gold quality
left coronary artery	UBERON:0001626	66.58	gold quality
left ovary	UBERON:0002119	66.16	gold quality
cardiac atrium	UBERON:0002081	66.03	gold quality
ovary	UBERON:0000992	65.98	gold quality
heart left ventricle	UBERON:0002084	65.84	gold quality
right ovary	UBERON:0002118	65.47	gold quality
left adrenal gland	UBERON:0001234	65.33	gold quality
lower esophagus	UBERON:0013473	65.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	65.29	gold quality
coronary artery	UBERON:0001621	65.23	gold quality
heart	UBERON:0000948	65.11	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

274 targeting ZDHHC15, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
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-1252-5P	100.00	69.80	2774
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3148	99.97	75.06	6478

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 3)

• Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation. (PMID:33541421)
• ZDHHC15 as a candidate gene for autism spectrum disorder. (PMID:36565021)
• ZDHHC15 promotes glioma malignancy and acts as a novel prognostic biomarker for patients with glioma. (PMID:37161425)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	zdhhc15b	ENSDARG00000071872
mus_musculus	Zdhhc15	ENSMUSG00000033906
rattus_norvegicus	Zdhhc15	ENSRNOG00000002751
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), ZDHHC2 (ENSG00000104219), ZDHHC4 (ENSG00000136247), ZDHHC7 (ENSG00000153786), ZDHHC1 (ENSG00000159714), ZDHHC12 (ENSG00000160446), ZDHHC3 (ENSG00000163812), ZDHHC19 (ENSG00000163958), ZDHHC14 (ENSG00000175048), ZDHHC21 (ENSG00000175893), ZDHHC22 (ENSG00000177108), ZDHHC20 (ENSG00000180776), ZDHHC23 (ENSG00000184307), ZDHHC9 (ENSG00000188706), ZDHHC11 (ENSG00000188818), ZDHHC18 (ENSG00000204160), ZDHHC11B (ENSG00000206077)

Protein

Protein identifiers

Palmitoyltransferase ZDHHC15 — Q96MV8 (reviewed: Q96MV8)

Alternative names: Acyltransferase ZDHHC15, Zinc finger DHHC domain-containing protein 15

All UniProt accessions (1): Q96MV8

UniProt curated annotations — full annotation on UniProt →

Function. Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates. 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. Palmitoylates IGF2R and SORT1, promoting their partitioning to an endosomal membrane subdomain where they can interact with the retromer cargo-selective complex. Thereby, regulates retrograde transport from endosomes to the Golgi apparatus of these lysosomal sorting receptors and plays a role in trafficking of lysosomal proteins. In the nervous system, catalyzes the palmitoylation of DLG4/PSD95 and regulates its synaptic clustering and function in synaptogenesis. Could be involved in the differentiation of dopaminergic neurons and the development of the diencephalon. Could also catalyze the palmitoylation of GAP43. Could also palmitoylate DNAJC5 and regulate its localization to the Golgi membrane. Could also palmitoylate FYN as shown in vitro. May palmitoylate CALHM3 subunit of gustatory voltage-gated ion channels and modulate channel gating and kinetics.

Subcellular location. Golgi apparatus membrane. Postsynaptic density.

Tissue specificity. Expressed in placenta, liver, lung, kidney, heart and brain.

Post-translational modifications. Autopalmitoylated (in vitro).

Disease relevance. Intellectual developmental disorder, X-linked 91 (MRX91) [MIM:300577] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The DHHC domain is required for palmitoyltransferase activity.

Similarity. Belongs to the DHHC palmitoyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96MV8-1	1	yes
Q96MV8-2	2
Q96MV8-3	3

RefSeq proteins (2): NP_001139728, NP_659406* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001594	Palmitoyltrfase_DHHC	Domain
IPR039859	PFA4/ZDH16/20/ERF2-like	Family

Pfam: PF01529

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 (26 total): binding site 8, topological domain 5, transmembrane region 4, splice variant 3, compositionally biased region 2, chain 1, domain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MV8-F1	89.20	0.80

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): 159 (s-palmitoyl cysteine intermediate)

Ligand- & substrate-binding residues (8): 131; 134; 144; 145; 148; 151; 158; 165

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 221 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_VESICLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PEPTIDYL_CYSTEINE_MODIFICATION, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_DENDRITE_MORPHOGENESIS, GOBP_LIPOPROTEIN_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_DENDRITE_DEVELOPMENT

GO Biological Process (9): protein targeting to membrane (GO:0006612), synaptic vesicle maturation (GO:0016188), peptidyl-L-cysteine S-palmitoylation (GO:0018230), regulation of dendritic spine morphogenesis (GO:0061001), protein localization to postsynapse (GO:0062237), protein localization to membrane (GO:0072657), protein targeting to Golgi apparatus (GO:0140450), positive regulation of dendrite development (GO:1900006), establishment of protein localization (GO:0045184)

GO Molecular Function (9): zinc ion binding (GO:0008270), palmitoyltransferase activity (GO:0016409), protein-cysteine S-myristoyltransferase activity (GO:0019705), protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein-cysteine S-stearoyltransferase activity (GO:0140439), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), metal ion binding (GO:0046872)

GO Cellular Component (7): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), postsynaptic density (GO:0014069), postsynapse (GO:0098794), membrane (GO:0016020), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-cysteine S-acyltransferase activity	3
protein targeting	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
establishment of protein localization to membrane	1
vesicle organization	1
developmental maturation	1
peptidyl-S-diacylglycerol-L-cysteine biosynthetic process from peptidyl-cysteine	1
protein palmitoylation	1
regulation of neuron projection development	1
regulation of anatomical structure morphogenesis	1
dendritic spine morphogenesis	1
regulation of postsynapse organization	1
protein localization to synapse	1
intracellular protein localization	1
localization within membrane	1
establishment of protein localization to organelle	1
positive regulation of neuron projection development	1
dendrite development	1
regulation of dendrite development	1
positive regulation of developmental process	1
establishment of localization	1
transition metal ion binding	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
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
asymmetric synapse	1
postsynaptic specialization	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

618 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZDHHC15	ZDHHC22	Q8N966	630
ZDHHC15	NEXMIF	Q5QGS0	582
ZDHHC15	GOLGA7	Q7Z5G4	545
ZDHHC15	ASB12	Q8WXK4	488
ZDHHC15	PPT1	P50897	468
ZDHHC15	LONRF2	Q1L5Z9	462
ZDHHC15	LYPLA2	O95372	448
ZDHHC15	ZDHHC17	Q8IUH5	437
ZDHHC15	LYPLA1	O75608	431
ZDHHC15	ABHD17A	Q96GS6	424
ZDHHC15	OR6C2	Q9NZP2	418
ZDHHC15	ZDHHC8	Q9ULC8	418
ZDHHC15	DLG4	P78352	415
ZDHHC15	ZDHHC13	Q8IUH4	412
ZDHHC15	SLITRK4	Q8IW52	393

IntAct

177 interactions, top by confidence:

A	B	Type	Score
CYP4F2	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
SFXN3	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
TMEM120A	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
C2CD2L	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
VAMP5	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	TBXA2R	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
TMEM42	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	CYB5R3	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	ORMDL1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	TMEM120A	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC15	UBE2J1	psi-mi:“MI:0915”(physical association)	0.560
MCEMP1	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (124): ZDHHC15 (Two-hybrid), ZDHHC15 (Two-hybrid), ZDHHC15 (Two-hybrid), ZDHHC15 (Two-hybrid), ZDHHC15 (Two-hybrid), PLLP (Two-hybrid), LEPROTL1 (Two-hybrid), CD79A (Two-hybrid), TMEM14C (Two-hybrid), YIPF4 (Two-hybrid), TNFRSF10B (Two-hybrid), PEX16 (Two-hybrid), MTIF3 (Two-hybrid), ORMDL2 (Two-hybrid), VAPB (Two-hybrid)

ESM2 similar proteins: A0A0R4IDP3, A0A0R4IF99, A0PK84, B0S5D5, E7F021, E7F587, F1Q7H8, F1QAM1, F1QGD2, F1QHM7, F1QX91, F1QXD3, F1RE57, O74384, P0C7U3, P42836, Q06551, Q0VC89, Q2TGI8, Q2TGJ4, Q500Z2, Q58DT3, Q5BLG4, Q5FVR1, Q5FWL7, Q5M757, Q5W0Z9, Q5Y5T1, Q5Y5T3, Q6CPU8, Q6DHI1, Q6FSS4, Q6FW70, Q750R7, Q75AW7, Q7XA86, Q8BGJ0, Q8I0G4, Q8VYP5, Q91WU6

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	36
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
625797	GRCh37/hg19 Xq13.3(chrX:74641546-74744601)	Pathogenic
992637	NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg)	Likely pathogenic

SpliceAI

1796 predictions. Top by Δscore:

Variant	Effect	Δscore
X:75421860:TCAC:T	donor_loss	1.0000
X:75421861:CA:C	donor_loss	1.0000
X:75421987:GCCT:G	acceptor_gain	1.0000
X:75421988:CCTC:C	acceptor_gain	1.0000
X:75421989:CT:C	acceptor_gain	1.0000
X:75422002:C:CT	acceptor_gain	1.0000
X:75422003:A:T	acceptor_gain	1.0000
X:75422009:G:GC	acceptor_gain	1.0000
X:75422010:T:C	acceptor_gain	1.0000
X:75422010:T:TC	acceptor_gain	1.0000
X:75429076:A:AC	donor_gain	1.0000
X:75429076:ACTCT:A	donor_gain	1.0000
X:75429077:C:CC	donor_gain	1.0000
X:75429077:CT:C	donor_gain	1.0000
X:75429077:CTCTC:C	donor_gain	1.0000
X:75431449:A:AC	donor_gain	1.0000
X:75431450:C:CC	donor_gain	1.0000
X:75431518:CAG:C	acceptor_gain	1.0000
X:75431520:GC:G	acceptor_loss	1.0000
X:75431521:C:CA	acceptor_loss	1.0000
X:75431521:C:CC	acceptor_gain	1.0000
X:75450746:AG:A	donor_gain	1.0000
X:75450809:T:TA	donor_gain	1.0000
X:75450923:C:CC	acceptor_gain	1.0000
X:75478983:TAA:T	acceptor_gain	1.0000
X:75478986:C:CC	acceptor_gain	1.0000
X:75522887:AC:A	donor_gain	1.0000
X:75522888:CC:C	donor_gain	1.0000
X:75403084:A:C	acceptor_gain	0.9900
X:75403086:A:C	acceptor_gain	0.9900

AlphaMissense

2232 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:75424660:G:A	T243I	1.000
X:75429959:A:C	H157Q	1.000
X:75429959:A:T	H157Q	1.000
X:75429961:G:C	H157D	1.000
X:75429963:T:A	D156V	1.000
X:75429963:T:G	D156A	1.000
X:75431473:G:C	H143D	1.000
X:75431478:C:G	R141P	1.000
X:75431479:G:T	R141S	1.000
X:75431486:C:A	K138N	1.000
X:75431486:C:G	K138N	1.000
X:75417169:G:C	F295L	0.999
X:75417169:G:T	F295L	0.999
X:75417171:A:G	F295L	0.999
X:75421920:A:C	N269K	0.999
X:75421920:A:T	N269K	0.999
X:75421941:G:C	F262L	0.999
X:75421941:G:T	F262L	0.999
X:75421942:A:G	F262S	0.999
X:75421943:A:G	F262L	0.999
X:75424666:T:A	N241I	0.999
X:75424678:A:G	L237P	0.999
X:75424710:G:C	S226R	0.999
X:75424710:G:T	S226R	0.999
X:75424712:T:G	S226R	0.999
X:75429159:G:C	F174L	0.999
X:75429159:G:T	F174L	0.999
X:75429161:A:G	F174L	0.999
X:75429171:G:C	N170K	0.999
X:75429171:G:T	N170K	0.999

dbSNP variants (sampled 300 via entrez): RS1000035175 (X:75403299 A>T), RS1000048706 (X:75407689 C>A), RS1000103890 (X:75393708 C>T), RS1000104179 (X:75455731 G>A,C), RS1000109671 (X:75499567 A>G), RS1000110871 (X:75373120 A>G), RS1000140570 (X:75425036 C>T), RS1000141488 (X:75517019 A>C), RS1000149231 (X:75459381 C>A), RS1000155397 (X:75477721 C>A), RS1000186274 (X:75497808 G>A), RS1000211160 (X:75515715 T>A,C), RS1000232718 (X:75403075 T>G), RS1000261414 (X:75517373 G>T), RS1000276279 (X:75396274 A>C)

Disease associations

OMIM: gene MIM:300576 | disease phenotypes: MIM:300577, MIM:606952

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, X-linked 91	Limited	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
X-linked complex neurodevelopmental disorder	Disputed	XL

Mondo (2): intellectual disability, X-linked 91 (MONDO:0010363), oculocutaneous albinism type 1B (MONDO:0011749)

Orphanet (3): Oculocutaneous albinism type 1 (Orphanet:352731), Temperature-sensitive oculocutaneous albinism type 1 (Orphanet:352737), Oculocutaneous albinism type 1B (Orphanet:79434)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C564482	Mental Retardation, X-Linked 91 (supp.)
C537729	Oculocutaneous albinism type 1B (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
arsenite	decreases methylation	1
perfluorooctanoic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
Vorinostat	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Fenfluramine	increases 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_TY72	HAP1 ZDHHC15 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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