XK

Summary

XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein, HGNC:12811) is a protein-coding gene on chromosome Xp21.1, encoding Endoplasmic reticulum membrane adapter protein XK (P51811). Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane.

This locus controls the synthesis of the Kell blood group ‘precursor substance’ (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins.

Source: NCBI Gene 7504 — RefSeq curated summary.

At a glance

• Gene–disease (curated): XK-related neurodegenerative disease (Strong, GenCC)
• GWAS associations: 1,968
• Clinical variants (ClinVar): 139 total — 14 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_021083

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12811
Approved symbol	XK
Name	X-linked Kx blood group antigen, Kell and VPS13A binding protein
Location	Xp21.1
Locus type	gene with protein product
Status	Approved
Aliases	XKR1, Kx, X1k
Ensembl gene	ENSG00000047597
Ensembl biotype	protein_coding
OMIM	314850
Entrez	7504

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378616

RefSeq mRNA: 1 — MANE Select: NM_021083 NM_021083

CCDS: CCDS14241

Canonical transcript exons

ENST00000378616 — 3 exons

Exon	Start	End
ENSE00000668235	37694286	37694548
ENSE00001478096	37727636	37732130
ENSE00001478097	37685791	37686206

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 95.47.

FANTOM5 (CAGE): breadth broad, TPM avg 3.4384 / max 274.4853, expressed in 577 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195894	2.6648	430
195893	0.3939	148
195895	0.3796	180

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	95.47	gold quality
jejunal mucosa	UBERON:0000399	93.68	gold quality
colonic mucosa	UBERON:0000317	91.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.88	gold quality
endothelial cell	CL:0000115	90.44	gold quality
duodenum	UBERON:0002114	85.84	gold quality
bone marrow	UBERON:0002371	85.29	gold quality
ileal mucosa	UBERON:0000331	84.59	gold quality
jejunum	UBERON:0002115	84.13	gold quality
middle temporal gyrus	UBERON:0002771	83.51	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.50	gold quality
rectum	UBERON:0001052	83.03	gold quality
monocyte	CL:0000576	82.74	gold quality
mononuclear cell	CL:0000842	82.39	gold quality
superior frontal gyrus	UBERON:0002661	81.05	gold quality
leukocyte	CL:0000738	81.04	gold quality
postcentral gyrus	UBERON:0002581	81.03	gold quality
blood vessel layer	UBERON:0004797	80.41	gold quality
Brodmann (1909) area 46	UBERON:0006483	80.02	gold quality
mucosa of transverse colon	UBERON:0004991	79.98	gold quality
entorhinal cortex	UBERON:0002728	79.67	gold quality
large intestine	UBERON:0000059	79.30	gold quality
orbitofrontal cortex	UBERON:0004167	79.28	gold quality
parietal lobe	UBERON:0001872	78.90	gold quality
colon	UBERON:0001155	78.85	gold quality
sigmoid colon	UBERON:0001159	78.39	gold quality
bone marrow cell	CL:0002092	77.82	gold quality
transverse colon	UBERON:0001157	77.78	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.54	silver quality
intestine	UBERON:0000160	77.37	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.53
E-MTAB-9067	yes	3.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

157 targeting XK, 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-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
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-3662	99.99	73.82	5684
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4458	99.96	71.64	1650
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 10)

• In human cortex, the results show expression of XK in cortical neurons with an apparent cytoplasmic localization. (PMID:17379193)
• Sequence analysis demonstrated a 5 bp deletion in exon 2 of the XK gene in McLeod syndrome. (PMID:17469188)
• This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK. (PMID:21145924)
• Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome. (PMID:21463873)
• study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome (PMID:24635891)
• The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria. (PMID:24816235)
• the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome. (PMID:26308465)
• XK is a partner for VPS13A: a molecular link between Chorea-Acanthocytosis and McLeod Syndrome. (PMID:32845802)
• A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane. (PMID:35994651)
• Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis. (PMID:39324427)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	xk	ENSDARG00000056618
mus_musculus	Xk	ENSMUSG00000015342
rattus_norvegicus	Xk	ENSRNOG00000003749

Paralogs (2): XKR3 (ENSG00000172967), XKRX (ENSG00000182489)

Protein

Protein identifiers

Endoplasmic reticulum membrane adapter protein XK — P51811 (reviewed: P51811)

Alternative names: Kell complex 37 kDa component, Kx antigen, Membrane transport protein XK, XK-related protein 1

All UniProt accessions (1): P51811

UniProt curated annotations — full annotation on UniProt →

Function. Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane.

Subunit / interactions. Heterodimer with Kell; disulfide-linked. Interacts with VPS13A.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney.

Post-translational modifications. Not glycosylated.

Disease relevance. McLeod syndrome (MCLDS) [MIM:300842] A multisystem disorder characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. XK is responsible for the Kx blood group system.

Similarity. Belongs to the XK family.

RefSeq proteins (1): NP_066569* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018629	XK-rel	Family
IPR051773	XK-related_adapter	Family

Pfam: PF09815

UniProt features (34 total): topological domain 11, transmembrane region 10, sequence variant 5, compositionally biased region 2, chain 1, region of interest 1, modified residue 1, disulfide bond 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P51811-F1	81.89	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 115

Disulfide bonds (1): 347

Mutagenesis-validated functional residues (1):

Position	Phenotype
347	loss of kell-xk complex.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-375276	Peptide ligand-binding receptors

MSigDB gene sets: 289 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, RNGTGGGC_UNKNOWN, ZHAN_LATE_DIFFERENTIATION_GENES_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, WWTAAGGC_UNKNOWN, GNF2_PRDX2, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEUROGENESIS, MEF2_02, GNF2_ANK1, SRF_Q5_01, KRASNOSELSKAYA_ILF3_TARGETS_DN

GO Biological Process (7): amino acid transport (GO:0006865), intracellular calcium ion homeostasis (GO:0006874), regulation of cell size (GO:0008361), intracellular magnesium ion homeostasis (GO:0010961), regulation of axon diameter (GO:0031133), myelination (GO:0042552), skeletal muscle fiber development (GO:0048741)

GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular monoatomic cation homeostasis	2
transport	1
calcium ion homeostasis	1
regulation of cellular component size	1
magnesium ion homeostasis	1
regulation of cell projection size	1
regulation of axonogenesis	1
axon ensheathment	1
skeletal muscle tissue development	1
myotube cell development	1
protein binding	1
molecular adaptor activity	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

684 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
XK	VPS13A	Q96RL7	952
XK	KEL	P23276	896
XK	STS	P08842	636
XK	CYBB	P04839	556
XK	XKR8	Q9H6D3	505
XK	DMD	P11532	475
XK	CYBA	P13498	456
XK	XKR9	Q5GH70	450
XK	SETBP1	Q9Y6X0	423
XK	HTT	P42858	414
XK	NCF2	P19878	410
XK	VPS13D	Q5THJ4	385
XK	MT-CYB	P00156	375
XK	VPS13B	Q7Z7G8	360
XK	PRDM16	Q9HAZ2	343

IntAct

3 interactions, top by confidence:

A	B	Type	Score
XK	SRC	psi-mi:“MI:0915”(physical association)	0.400
CLGN	XK	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (10): XK (Affinity Capture-Western), XK (Affinity Capture-Western), XK (Affinity Capture-Western), XK (Biochemical Activity), SRC (Affinity Capture-MS), XK (Affinity Capture-MS), XK (Affinity Capture-MS), XK (Affinity Capture-RNA), XK (Affinity Capture-MS), XK (Two-hybrid)

ESM2 similar proteins: A3KNK1, A4FUY9, A5D6V4, A5PN43, A8DZH4, D3ZWZ9, E1BY51, E7EYQ9, F4JTN2, O14524, P51811, Q28CV2, Q3T124, Q3TPR7, Q3ZBX1, Q49LS5, Q4R8A8, Q4V8X0, Q502E0, Q5F3F5, Q5GH61, Q5HZD4, Q5HZE5, Q5PQQ4, Q5PR61, Q5RDB4, Q5U4X7, Q5YCC5, Q68DH5, Q6AXF6, Q6GQE1, Q6P4P2, Q6Q3F5, Q7ZX75, Q7ZYA0, Q810F5, Q86UW1, Q86X19, Q8BKU8, Q8C561

Diamond homologs: O14609, P51811, Q49LS5, Q5GH22, Q5GH60, Q5GH61, Q5GH68, Q5GH77, Q6PP77, Q9QXY7, Q49LS9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	1
Uncertain significance	65
Likely benign	21
Benign	11

Top pathogenic / likely-pathogenic (15)

Variant ID	HGVS	Classification
2423022	NC_000023.10:g.(?37545215)(37670170_?)del	Pathogenic
2507382	NM_021083.4(XK):c.856_860del (p.Leu286fs)	Pathogenic
3032247	NM_021083.4(XK):c.274C>T (p.Gln92Ter)	Pathogenic
3340180	NM_021083.4(XK):c.397C>T (p.Arg133Ter)	Pathogenic
4077101	NM_021083.4(XK):c.719dup (p.Ile241fs)	Pathogenic
521845	NM_021083.4(XK):c.1015A>T (p.Lys339Ter)	Pathogenic
9764	NM_021083.4(XK):c.508+1G>A	Pathogenic
9765	NM_021083.4(XK):c.509-1G>A	Pathogenic
9766	XK, 1-BP DEL	Pathogenic
9767	NM_021083.4(XK):c.1013del (p.Phe338fs)	Pathogenic
9768	NM_021083.4(XK):c.880T>C (p.Cys294Arg)	Pathogenic
9769	NM_021083.4(XK):c.938_951del (p.Asn313fs)	Pathogenic
9770	NM_021083.4(XK):c.941G>A (p.Trp314Ter)	Pathogenic
9771	NM_021083.4(XK):c.895C>T (p.Gln299Ter)	Pathogenic
2429766	NM_021083.4(XK):c.771G>A (p.Trp257Ter)	Likely pathogenic

SpliceAI

452 predictions. Top by Δscore:

Variant	Effect	Δscore
X:37694285:GGT:G	acceptor_gain	1.0000
X:37694530:G:GT	donor_gain	1.0000
X:37694546:G:GT	donor_gain	1.0000
X:37694546:GAA:G	donor_gain	1.0000
X:37694549:G:GG	donor_gain	1.0000
X:37686204:CAGGT:C	donor_loss	0.9900
X:37686205:AGGTG:A	donor_loss	0.9900
X:37686206:GGT:G	donor_loss	0.9900
X:37686207:GTG:G	donor_loss	0.9900
X:37686208:T:G	donor_loss	0.9900
X:37694283:CAG:C	acceptor_loss	0.9900
X:37694283:CAGGT:C	acceptor_loss	0.9900
X:37694284:A:AG	acceptor_gain	0.9900
X:37694285:G:A	acceptor_loss	0.9900
X:37694285:G:GG	acceptor_gain	0.9900
X:37694543:G:GT	donor_gain	0.9900
X:37694545:AGAA:A	donor_gain	0.9900
X:37727630:CCCCA:C	acceptor_loss	0.9900
X:37727631:CCCA:C	acceptor_loss	0.9900
X:37727632:CCA:C	acceptor_loss	0.9900
X:37727633:CA:C	acceptor_loss	0.9900
X:37727633:CAG:C	acceptor_loss	0.9900
X:37727634:A:AG	acceptor_gain	0.9900
X:37727634:A:AT	acceptor_loss	0.9900
X:37727635:G:GG	acceptor_gain	0.9900
X:37694284:AG:A	acceptor_gain	0.9800
X:37694284:AGGT:A	acceptor_gain	0.9800
X:37694285:GG:G	acceptor_gain	0.9800
X:37694285:GGTG:G	acceptor_gain	0.9800
X:37694285:GGTGT:G	acceptor_gain	0.9800

AlphaMissense

2904 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:37727767:T:A	W214R	0.998
X:37727767:T:C	W214R	0.998
X:37694473:T:C	F145L	0.997
X:37694475:C:A	F145L	0.997
X:37694475:C:G	F145L	0.997
X:37694495:T:C	L152P	0.996
X:37727771:G:C	R215T	0.996
X:37686125:T:C	L55P	0.995
X:37686206:G:T	R82M	0.995
X:37694438:G:C	R133P	0.995
X:37727674:G:A	G183R	0.995
X:37727674:G:C	G183R	0.995
X:37727675:G:A	G183E	0.995
X:37727772:G:C	R215S	0.995
X:37727772:G:T	R215S	0.995
X:37686193:G:A	G78R	0.994
X:37686193:G:C	G78R	0.994
X:37694486:C:A	A149D	0.994
X:37727773:A:C	S216R	0.994
X:37727775:C:A	S216R	0.994
X:37727775:C:G	S216R	0.994
X:37727884:T:A	W253R	0.994
X:37727884:T:C	W253R	0.994
X:37728009:C:G	C294W	0.994
X:37686206:G:C	R82T	0.993
X:37694447:T:C	F136S	0.993
X:37727698:G:C	A191P	0.993
X:37727771:G:T	R215M	0.993
X:37728111:T:A	N328K	0.993
X:37728111:T:G	N328K	0.993

dbSNP variants (sampled 300 via entrez): RS1000109116 (X:37704020 G>A), RS1000583447 (X:37731139 C>A), RS1000760507 (X:37686245 C>A,G), RS1000824521 (X:37721699 A>G), RS1000889141 (X:37695905 T>C), RS1001002591 (X:37705376 C>T), RS1001202997 (X:37726976 G>A), RS1001255218 (X:37726583 A>G), RS1001274467 (X:37685638 C>A,T), RS1001518574 (X:37705278 T>C), RS1001556014 (X:37691617 C>T), RS1001608297 (X:37691915 C>T), RS1001952837 (X:37710234 G>T), RS1002181507 (X:37701617 T>G), RS1002203769 (X:37729614 A>C,G)

Disease associations

OMIM: gene MIM:314850 | disease phenotypes: MIM:300842, MIM:138990, MIM:306400

GenCC curated gene-disease

Disease	Classification	Inheritance
XK-related neurodegenerative disease	Strong	X-linked

Mondo (2): XK-related neurodegenerative disease (MONDO:0018945), granulomatous disease, chronic, X-linked (MONDO:0010600)

Orphanet (2): McLeod neuroacanthocytosis syndrome (Orphanet:59306), Chronic granulomatous disease (Orphanet:379)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000716	Depression
HP:0000722	Compulsive behaviors
HP:0000739	Anxiety
HP:0001250	Seizure
HP:0001260	Dysarthria
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001417	X-linked inheritance
HP:0001638	Cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001744	Splenomegaly
HP:0001927	Acanthocytosis
HP:0002072	Chorea
HP:0002197	Generalized-onset seizure
HP:0002240	Hepatomegaly
HP:0003198	Myopathy
HP:0003201	Rhabdomyolysis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003438	Absent Achilles reflex
HP:0003581	Adult onset
HP:0005110	Atrial fibrillation
HP:0006938	Impaired vibration sensation at ankles
HP:0007002	Motor axonal neuropathy
HP:0012046	Areflexia of upper limbs
HP:0012075	Personality disorder
HP:0020181	Reduced haptoglobin level
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration

GWAS associations

1968 associations (top):

Study	Trait	p-value
GCST001769_1	Alcohol and nicotine co-dependence	8.000000e-07
GCST001927_4	Response to anti-TNF therapy in rheumatoid arthritis	1.000000e-06
GCST002027_1	Red blood cell traits	5.000000e-09
GCST002028_1	Serum selenium levels	2.000000e-06
GCST002030_1	Primary tooth development (time to first tooth eruption)	2.000000e-10
GCST002031_1	Primary tooth development (number of teeth)	3.000000e-08
GCST005830_100	Hand grip strength	4.000000e-12
GCST005830_121	Hand grip strength	4.000000e-10
GCST005830_124	Hand grip strength	7.000000e-10
GCST005830_61	Hand grip strength	2.000000e-08
GCST005830_82	Hand grip strength	9.000000e-09
GCST005830_86	Hand grip strength	1.000000e-08
GCST006269_674	General cognitive ability	6.000000e-10
GCST006663_1	HDL cholesterol	1.000000e-06
GCST006663_2	HDL cholesterol	5.000000e-06
GCST006663_3	HDL cholesterol	2.000000e-06
GCST006663_4	HDL cholesterol	4.000000e-06
GCST006664_1	Triglyceride levels	6.000000e-07
GCST006664_2	Triglyceride levels	8.000000e-08
GCST006669_1	HDL cholesterol and triglyceride levels (pleiotropy)	7.000000e-06
GCST006669_2	HDL cholesterol and triglyceride levels (pleiotropy)	1.000000e-06
GCST006669_3	HDL cholesterol and triglyceride levels (pleiotropy)	2.000000e-06
GCST006669_4	HDL cholesterol and triglyceride levels (pleiotropy)	1.000000e-06
GCST006669_5	HDL cholesterol and triglyceride levels (pleiotropy)	5.000000e-06
GCST006669_6	HDL cholesterol and triglyceride levels (pleiotropy)	8.000000e-06
GCST006669_7	HDL cholesterol and triglyceride levels (pleiotropy)	4.000000e-06
GCST006669_8	HDL cholesterol and triglyceride levels (pleiotropy)	2.000000e-13
GCST006920_2	Regular attendance at a gym or sports club	4.000000e-08
GCST006921_2	Regular attendance at a pub or social club	1.000000e-08
GCST006922_8	Regular attendance at a religious group	1.000000e-08

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004653	response to TNF antagonist
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0006941	grip strength measurement
EFO:0004337	intelligence
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0009592	social interaction measurement
EFO:0009282	sodium measurement
EFO:0007876	insomnia measurement
EFO:0004343	waist-hip ratio
EFO:0004340	body mass index
EFO:0007936	disease prognosis measurement
EFO:0006919	cardiovascular event measurement
EFO:0600027	hemoglobin change measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C564210	Granulomatous Disease, Chronic, Autosomal Dominant Type (supp.)
C564038	Neuroacanthocytosis, Mcleod Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	decreases expression, increases expression	1
arsenite	affects methylation	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diazinon	increases methylation	1
Estradiol	increases expression	1
Silicon Dioxide	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01381003	PHASE1/PHASE2	WITHDRAWN	Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD)
NCT02234934	PHASE1/PHASE2	COMPLETED	Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease
NCT05600907	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Study to Assess the Use of JSP191 in Matched Unrelated Donor Transplantation for Chronic Granulomatous Disease (CGD)
NCT01953016	Not specified	COMPLETED	Participation in a Research Registry for Immune Disorders
NCT02233036	Not specified	COMPLETED	Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease
NCT05546775	Not specified	UNKNOWN	Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease