NKAP

Summary

NKAP (NFKB activating protein, HGNC:29873) is a protein-coding gene on chromosome Xq24, encoding NF-kappa-B-activating protein (Q8N5F7). Acts as a transcriptional repressor. It is a common-essential gene (DepMap: required in 98.2% of cancer cell lines).

This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6.

Source: NCBI Gene 79576 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type (Strong, GenCC)
• Clinical variants (ClinVar): 121 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 24
• Cancer dependency (DepMap): dependent in 98.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_024528

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29873
Approved symbol	NKAP
Name	NFKB activating protein
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22626
Ensembl gene	ENSG00000101882
Ensembl biotype	protein_coding
OMIM	300766
Entrez	79576

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000371410, ENST00000455986, ENST00000477789, ENST00000482407, ENST00000652253, ENST00000934466, ENST00000966801

RefSeq mRNA: 1 — MANE Select: NM_024528 NM_024528

CCDS: CCDS14592

Canonical transcript exons

ENST00000371410 — 9 exons

Exon	Start	End
ENSE00000675728	119938730	119938810
ENSE00000854509	119936612	119936682
ENSE00001455196	119943220	119943751
ENSE00001847017	119920672	119925394
ENSE00003563706	119931936	119932011
ENSE00003603853	119934494	119934557
ENSE00003608165	119932107	119932216
ENSE00003649491	119930016	119930165
ENSE00003657365	119936297	119936431

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 88.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.9885 / max 209.8827, expressed in 1813 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200329	11.1578	1782
200326	4.2041	1575
200328	2.6216	1459
200325	1.1983	840
200327	0.8066	482

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	88.89	gold quality
sural nerve	UBERON:0015488	88.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.52	gold quality
monocyte	CL:0000576	86.69	gold quality
leukocyte	CL:0000738	86.62	gold quality
buccal mucosa cell	CL:0002336	86.55	gold quality
gastrocnemius	UBERON:0001388	86.51	gold quality
muscle of leg	UBERON:0001383	86.33	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.08	gold quality
right adrenal gland cortex	UBERON:0035827	85.43	gold quality
right adrenal gland	UBERON:0001233	85.21	gold quality
left adrenal gland	UBERON:0001234	85.01	gold quality
left ovary	UBERON:0002119	84.87	gold quality
left adrenal gland cortex	UBERON:0035825	84.70	gold quality
islet of Langerhans	UBERON:0000006	84.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.48	gold quality
adrenal gland	UBERON:0002369	84.47	gold quality
right ovary	UBERON:0002118	84.44	gold quality
ventricular zone	UBERON:0003053	84.41	gold quality
mucosa of transverse colon	UBERON:0004991	84.25	gold quality
spinal cord	UBERON:0002240	84.23	gold quality
popliteal artery	UBERON:0002250	84.22	gold quality
tibial artery	UBERON:0007610	84.21	gold quality
granulocyte	CL:0000094	84.20	gold quality
smooth muscle tissue	UBERON:0001135	84.13	gold quality
adrenal tissue	UBERON:0018303	84.11	gold quality
pancreatic ductal cell	CL:0002079	84.10	gold quality
adenohypophysis	UBERON:0002196	83.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.78	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.65
E-MTAB-6524	no	113.31
E-MTAB-2983	no	40.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting NKAP, 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-186-5P	99.99	70.83	3707
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-3169	96.40	67.58	698
HSA-MIR-4740-5P	96.25	67.96	726

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 11)

• NKAP is a novel nuclear regulator of TNF- and IL-1-induced NF-kappaB activation (PMID:14550261)
• NKAP functions as a transcriptional repressor, acting on Notch target genes, and is required for alphabeta T cell development. (PMID:19409814)
• NKAP is required for T cell maturation and the acquisition of functional competency (PMID:21624937)
• SUMOylated NKAP is essential for chromosome alignment by anchoring CENP-E to kinetochores (PMID:27694884)
• Observations suggest that NKAP promotes glioma growth by TAM chemoattraction through upregulation of Notch1. (PMID:31277684)
• Study determines that NKAP was upregulated in colon cancer. Its knockdown resulted in a significant decrease in the proliferation and invasion of colon cancer cells, as well as induction of apoptosis and autophagy, whereas its overexpression promoted cell proliferation and invasion, and inhibited apoptosis and autophagy. (PMID:31545474)
• The critical role of NKAP in transcriptional regulation. (PMID:31587868)
• NKAP promotes renal cell carcinoma growth via AKT/mTOR signalling pathway. (PMID:32032976)
• MARCKS cooperates with NKAP to activate NF-kB signaling in smoke-related lung cancer. (PMID:33754052)
• RNA binding protein NKAP protects glioblastoma cells from ferroptosis by promoting SLC7A11 mRNA splicing in an m(6)A-dependent manner. (PMID:35064112)
• From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease. (PMID:38647244)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Nkap	ENSMUSG00000016409
rattus_norvegicus	Nkap	ENSRNOG00000053813

Paralogs (1): NKAPL (ENSG00000189134)

Protein

Protein identifiers

NF-kappa-B-activating protein — Q8N5F7 (reviewed: Q8N5F7)

All UniProt accessions (2): Q8N5F7, A0A494C050

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter.

Subunit / interactions. Component of the Notch corepressor complex. Interacts with CIRSR and HDAC3.

Subcellular location. Nucleus.

Disease relevance. Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type (MRXSHD) [MIM:301039] An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the NKAP family.

RefSeq proteins (1): NP_078804* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009269	NKAP_C	Domain
IPR040466	NKAP	Family

Pfam: PF06047, PF15692

UniProt features (32 total): compositionally biased region 10, modified residue 8, sequence variant 6, region of interest 3, cross-link 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
6QDV	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
7W5B	ELECTRON MICROSCOPY	4.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5F7-F1	61.90	0.08

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 (10): 7, 9, 50, 64, 112, 149, 157, 161, 283, 305

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 202 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_STEM_CELL_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GTGCCTT_MIR506, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_HEMATOPOIETIC_STEM_CELL_PROLIFERATION

GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), Notch signaling pathway (GO:0007219), granulocyte differentiation (GO:0030851), T cell differentiation in thymus (GO:0033077), somatic stem cell population maintenance (GO:0035019), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of alpha-beta T cell differentiation (GO:0046638), hematopoietic stem cell proliferation (GO:0071425), hemopoiesis (GO:0030097)

GO Molecular Function (4): chromatin binding (GO:0003682), RNA binding (GO:0003723), chromatin DNA binding (GO:0031490), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
cell surface receptor signaling pathway	1
myeloid leukocyte differentiation	1
T cell differentiation	1
stem cell population maintenance	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
positive regulation of T cell differentiation	1
alpha-beta T cell differentiation	1
positive regulation of alpha-beta T cell activation	1
regulation of alpha-beta T cell differentiation	1
hemopoiesis	1
stem cell proliferation	1
cell development	1
nucleic acid binding	1
DNA binding	1
chromatin binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

1452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NKAP	CSHL1	Q14406	765
NKAP	HDAC3	O15379	678
NKAP	DTX1	Q86Y01	677
NKAP	RIPK1	Q13546	614
NKAP	IL7	P13232	458
NKAP	CIRSR	Q86X95	448
NKAP	RUNX1	Q01196	447
NKAP	IL1A	P01583	441
NKAP	BCL11B	Q9C0K0	437
NKAP	SDE2	Q6IQ49	419
NKAP	PIGH	Q14442	414
NKAP	FAM32A	Q9Y421	410
NKAP	BATF	Q16520	400
NKAP	PRKRIP1	Q9H875	382
NKAP	RHOXF2B	P0C7M4	370

IntAct

125 interactions, top by confidence:

A	B	Type	Score
HIF1AN	APBA3	psi-mi:“MI:0914”(association)	0.850
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
DDX41	NKAP	psi-mi:“MI:0915”(physical association)	0.720
NKAP	DHX8	psi-mi:“MI:0915”(physical association)	0.720
NOS1AP	NKAP	psi-mi:“MI:0915”(physical association)	0.660
NKAP	NOS1AP	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
UPF3B	CASC3	psi-mi:“MI:0914”(association)	0.640
PNN	CASC3	psi-mi:“MI:0914”(association)	0.640
CHCHD4	SSNA1	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
RPL10A	RRP8	psi-mi:“MI:0914”(association)	0.640
NKAP	AP1M1	psi-mi:“MI:0915”(physical association)	0.560
PPIG	NKAP	psi-mi:“MI:0915”(physical association)	0.550
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
EPB41L2	AP3B1	psi-mi:“MI:0914”(association)	0.530
MDK	SETD1A	psi-mi:“MI:0914”(association)	0.530
SREK1IP1	KPNA5	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
EPB41L3	AP3B1	psi-mi:“MI:0914”(association)	0.530
DDX41	NOS1AP	psi-mi:“MI:0914”(association)	0.530
CBY1	CFAP410	psi-mi:“MI:0914”(association)	0.510
RBMX2	NKAP	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (214): NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), FAM124A (Two-hybrid), NKAP (Two-hybrid), CEP70 (Two-hybrid), NKAP (Two-hybrid), NKAP (Biochemical Activity), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS), NKAP (Affinity Capture-MS)

ESM2 similar proteins: A0JNI5, A2AJT4, A2AQ19, A4IFB1, B1H1X4, D3ZTQ1, O43290, P35269, Q05519, Q12872, Q13435, Q3THK3, Q3UJB0, Q3UQU0, Q3USH5, Q4V7C9, Q53F19, Q568R1, Q5EA53, Q5HZB6, Q5PQQ2, Q5R539, Q5RAD5, Q5XIW8, Q5ZM19, Q66I22, Q6AY96, Q6DDA4, Q6GLZ8, Q6INH5, Q6ZPZ3, Q8BZR9, Q8CFC7, Q8K194, Q8N2M8, Q8N5F7, Q8TF01, Q8VHI6, Q8WVK2, Q923D5

Diamond homologs: Q4P4G8, Q4V7C9, Q55ED4, Q5M9Q1, Q5SZT7, Q8N5F7, Q9D0F4, Q9VB74

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 129 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
mRNA Splicing - Major Pathway	26	16.3×	2e-22
mRNA Polyadenylation	16	16.2×	4e-13
mRNA 3’-end processing	7	15.8×	2e-05
mRNA Splicing	11	13.9×	4e-08
Processing of Capped Intron-Containing Pre-mRNA	14	13.2×	3e-10
mRNA Splicing - Minor Pathway	5	12.9×	2e-03
RNA Polymerase II Transcription Termination	5	12.6×	2e-03
Transport of Mature mRNA derived from an Intron-Containing Transcript	6	10.5×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	21	16.7×	3e-17
RNA splicing	21	16.1×	4e-17
regulation of alternative mRNA splicing, via spliceosome	6	12.7×	1e-03
mRNA processing	17	11.6×	2e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	50
Likely benign	12
Benign	5

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1685984	NM_024528.4(NKAP):c.961A>G (p.Met321Val)	Pathogenic
827656	NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr)	Pathogenic
4278625	NM_024528.4(NKAP):c.1078C>T (p.Arg360Cys)	Likely pathogenic

SpliceAI

1388 predictions. Top by Δscore:

Variant	Effect	Δscore
X:119925176:T:A	donor_gain	1.0000
X:119925230:T:TA	donor_gain	1.0000
X:119925234:T:A	donor_gain	1.0000
X:119930064:TC:T	donor_gain	1.0000
X:119930161:CATAG:C	acceptor_gain	1.0000
X:119930163:TAG:T	acceptor_gain	1.0000
X:119930166:C:CC	acceptor_gain	1.0000
X:119931934:A:AC	donor_gain	1.0000
X:119931935:C:CT	donor_gain	1.0000
X:119931935:CTT:C	donor_gain	1.0000
X:119931937:T:TA	donor_gain	1.0000
X:119932105:A:AC	donor_gain	1.0000
X:119932106:C:CC	donor_gain	1.0000
X:119934483:A:AC	donor_gain	1.0000
X:119934484:A:C	donor_gain	1.0000
X:119934492:A:AC	donor_gain	1.0000
X:119934493:C:CC	donor_gain	1.0000
X:119936296:CCA:C	donor_gain	1.0000
X:119936427:TTCTT:T	acceptor_gain	1.0000
X:119936429:CTT:C	acceptor_gain	1.0000
X:119936430:TT:T	acceptor_gain	1.0000
X:119936432:C:CC	acceptor_gain	1.0000
X:119936611:CCTT:C	donor_gain	1.0000
X:119936683:C:CC	acceptor_gain	1.0000
X:119938726:TTA:T	donor_loss	1.0000
X:119938727:TA:T	donor_loss	1.0000
X:119938728:A:AC	donor_gain	1.0000
X:119938729:C:CT	donor_gain	1.0000
X:119938729:CT:C	donor_gain	1.0000
X:119938729:CTCTG:C	donor_gain	1.0000

AlphaMissense

2684 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:119925254:A:T	V405D	1.000
X:119925263:C:G	R402P	1.000
X:119925266:A:C	F401C	1.000
X:119925266:A:G	F401S	1.000
X:119925275:A:G	L398P	1.000
X:119925278:A:C	I397S	1.000
X:119925278:A:G	I397T	1.000
X:119925289:T:A	R393S	1.000
X:119925289:T:G	R393S	1.000
X:119925298:T:A	R390S	1.000
X:119925298:T:G	R390S	1.000
X:119925313:A:C	F385L	1.000
X:119925313:A:T	F385L	1.000
X:119925314:A:G	F385S	1.000
X:119925315:A:G	F385L	1.000
X:119925318:A:G	S384P	1.000
X:119925321:C:G	A383P	1.000
X:119925323:A:G	L382P	1.000
X:119925323:A:T	L382H	1.000
X:119925326:G:T	A381D	1.000
X:119925327:C:G	A381P	1.000
X:119925328:T:A	R380S	1.000
X:119925328:T:G	R380S	1.000
X:119925334:C:A	E378D	1.000
X:119925334:C:G	E378D	1.000
X:119925335:T:A	E378V	1.000
X:119925336:C:T	E378K	1.000
X:119925341:G:T	A376D	1.000
X:119925342:C:G	A376P	1.000
X:119925343:A:C	S375R	1.000

dbSNP variants (sampled 300 via entrez): RS1000019487 (X:119945445 G>A), RS1000446545 (X:119929001 A>G,T), RS1001312886 (X:119922855 C>T), RS1001639640 (X:119922133 C>T), RS1001687876 (X:119936650 T>C), RS1001740661 (X:119921071 G>T), RS1001747538 (X:119943447 C>T), RS1002081292 (X:119945207 A>G), RS1002190879 (X:119926311 G>A), RS1002379819 (X:119926876 C>T), RS1002673753 (X:119926440 T>A,C), RS1002932900 (X:119921966 C>T), RS1003047423 (X:119922295 A>G), RS1003097440 (X:119940840 T>C), RS1003185505 (X:119929697 C>G)

Disease associations

OMIM: gene MIM:300766 | disease phenotypes: MIM:301039, MIM:619090

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Strong	X-linked

Mondo (2): intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type (MONDO:0026733), developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (MONDO:0030835)

Orphanet (1): NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome (Orphanet:700325)

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
HP:0000194	Open mouth
HP:0000276	Long face
HP:0000322	Short philtrum
HP:0000411	Protruding ear
HP:0000718	Aggressive behavior
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0001166	Arachnodactyly
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001382	Joint hypermobility
HP:0001419	X-linked recessive inheritance
HP:0001519	Disproportionate tall stature
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001653	Mitral regurgitation
HP:0001762	Talipes equinovarus
HP:0002616	Aortic root aneurysm
HP:0002650	Scoliosis
HP:0007018	Attention deficit hyperactivity disorder
HP:0011800	Midface retrusion
HP:0012385	Camptodactyly
HP:0012743	Abdominal obesity

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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
coumarin	affects phosphorylation	1
K 7174	increases expression	1
enzalutamide	affects expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Drugs, Chinese Herbal	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Methyl Methanesulfonate	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Valproic Acid	increases expression, increases methylation	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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