AKAP17A

Summary

AKAP17A (A-kinase anchoring protein 17A, HGNC:18783) is a protein-coding gene on chromosome Xp22.33 and Yp11.32, encoding A-kinase anchor protein 17A (Q02040). Splice factor regulating alternative splice site selection for certain mRNA precursors.

This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.

Source: NCBI Gene 8227 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 101 total — 29 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_005088

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18783
Approved symbol	AKAP17A
Name	A-kinase anchoring protein 17A
Location	Xp22.33 and Yp11.32
Locus type	gene with protein product
Status	Approved
Aliases	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133
Ensembl gene	ENSG00000197976
Ensembl biotype	protein_coding
OMIM	312095, 465000
Entrez	8227

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000313871, ENST00000381261, ENST00000474361, ENST00000876677, ENST00000912141, ENST00000912142, ENST00000912143, ENST00000971707

RefSeq mRNA: 1 — MANE Select: NM_005088 NM_005088

CCDS: CCDS14116

Canonical transcript exons

ENST00000313871 — 5 exons

Exon	Start	End
ENSE00001153230	1599192	1599432
ENSE00001296181	1595384	1595532
ENSE00001297134	1591604	1591769
ENSE00001826440	1600659	1602520
ENSE00002180175	1593444	1594224

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 96.40.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	96.40	gold quality
spleen	UBERON:0002106	95.98	gold quality
left ovary	UBERON:0002119	95.95	gold quality
right ovary	UBERON:0002118	95.86	gold quality
granulocyte	CL:0000094	95.64	gold quality
sural nerve	UBERON:0015488	95.64	gold quality
parietal pleura	UBERON:0002400	95.37	gold quality
right lobe of thyroid gland	UBERON:0001119	95.32	gold quality
left lobe of thyroid gland	UBERON:0001120	95.22	gold quality
right uterine tube	UBERON:0001302	95.22	gold quality
body of pancreas	UBERON:0001150	94.84	gold quality
pleura	UBERON:0000977	94.77	gold quality
right lobe of liver	UBERON:0001114	94.74	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.33	gold quality
thyroid gland	UBERON:0002046	94.25	gold quality
lower esophagus mucosa	UBERON:0035834	94.19	gold quality
metanephros cortex	UBERON:0010533	94.09	gold quality
blood	UBERON:0000178	94.02	gold quality
visceral pleura	UBERON:0002401	94.02	gold quality
endocervix	UBERON:0000458	93.96	gold quality
ovary	UBERON:0000992	93.71	gold quality
corpus epididymis	UBERON:0004359	93.71	gold quality
right lung	UBERON:0002167	93.67	gold quality
body of stomach	UBERON:0001161	93.62	gold quality
left uterine tube	UBERON:0001303	93.55	gold quality
body of uterus	UBERON:0009853	93.44	gold quality
adenohypophysis	UBERON:0002196	93.40	gold quality
minor salivary gland	UBERON:0001830	93.39	gold quality
pylorus	UBERON:0001166	93.38	gold quality
transverse colon	UBERON:0001157	93.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting AKAP17A, 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-4531	99.99	69.70	3181
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-432-5P	98.00	68.13	989

Literature-anchored findings (GeneRIF, showing 2)

• The spliceosomal component XE7 resembles an SR-related splicing protein, and can influence alternative splicing. (PMID:16982639)
• The expression of splicing factor gene AKAP17A was associated with Cognitive Decline as measured by the Mini-Mental State Examinations and also with a decline in Physical Ability as measured by hand-grip strength in ageing human population. (PMID:31292793)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	akap17a	ENSDARG00000104768
mus_musculus	Akap17a	ENSMUSG00000121606
rattus_norvegicus	Akap17a	ENSRNOG00000028211
drosophila_melanogaster	Xe7	FBGN0010772
caenorhabditis_elegans		WBGENE00000854

Protein

Protein identifiers

A-kinase anchor protein 17A — Q02040 (reviewed: Q02040)

Alternative names: 721P, B-lymphocyte antigen, Protein XE7, Protein kinase A-anchoring protein 17A, Splicing factor, arginine/serine-rich 17A

All UniProt accessions (2): Q02040, X6RAJ1

UniProt curated annotations — full annotation on UniProt →

Function. Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner.

Subunit / interactions. Monomer. Component of the spliceosome. Interacts with ZRANB2 and SFRS1/ASF through its Arg/Ser-rich domain. Interacts with RI and RII subunits of PKA.

Subcellular location. Nucleus speckle.

Tissue specificity. Widely expressed. Found in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Expressed in activated B-cells and placenta. Expressed in all cell lines tested including Jurkat-TAg, U-937 and HEK293 cells.

Domain organisation. RI-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.

Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q02040-1	1	yes
Q02040-2	2
Q02040-3	3

RefSeq proteins (1): NP_005079* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR056852	AK17A/B	Family

Pfam: PF25015

UniProt features (26 total): compositionally biased region 6, splice variant 4, region of interest 4, sequence conflict 3, modified residue 2, cross-link 2, mutagenesis site 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02040-F1	70.05	0.29

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 (4): 537, 633, 118, 118

Mutagenesis-validated functional residues (2):

Position	Phenotype
438–439	abolishes binding to pka-ri; when associated with 445-p-p-446.
445–446	abolishes binding to pka-ri; when associated with 438-p-p-439.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 80 (showing top): GOBP_B_CELL_ACTIVATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_RNA_SPLICING, BROWNE_HCMV_INFECTION_10HR_UP, GOBP_REGULATION_OF_RNA_SPLICING, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, LIU_SOX4_TARGETS_DN, GOCC_RIBONUCLEOPROTEIN_GRANULE, LAIHO_COLORECTAL_CANCER_SERRATED_DN, GOCC_SPLICEOSOMAL_COMPLEX, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOMF_PROTEIN_KINASE_A_BINDING, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, chrXp22

GO Biological Process (6): regulation of DNA-templated transcription (GO:0006355), mRNA processing (GO:0006397), signal transduction (GO:0007165), RNA splicing (GO:0008380), B cell activation (GO:0042113), regulation of RNA splicing (GO:0043484)

GO Molecular Function (4): RNA binding (GO:0003723), protein kinase A binding (GO:0051018), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), spliceosomal complex (GO:0005681), cytosol (GO:0005829), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of gene expression	2
RNA processing	2
binding	2
DNA-templated transcription	1
regulation of RNA biosynthetic process	1
mRNA metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
lymphocyte activation	1
RNA splicing	1
regulation of primary metabolic process	1
nucleic acid binding	1
protein binding	1
intracellular membrane-bounded organelle	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
cytoplasm	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1044 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKAP17A	ASMTL	O95671	909
AKAP17A	ASMT	P46597	784
AKAP17A	SLC25A6	P12236	752
AKAP17A	DHRSX	Q8N5I4	692
AKAP17A	GTPBP6	O43824	666
AKAP17A	PLCXD1	Q9NUJ7	622
AKAP17A	ZBED1	O96006	603
AKAP17A	TXLNG	Q9NUQ3	592
AKAP17A	HLA-DRB5	Q30154	547
AKAP17A	HLA-DRA	P01903	492
AKAP17A	EVI5L	Q96CN4	478
AKAP17A	CD99	P14209	476
AKAP17A	POGK	Q9P215	471
AKAP17A	TRIM15	Q9C019	470
AKAP17A	SH3RF3	Q8TEJ3	462

IntAct

87 interactions, top by confidence:

A	B	Type	Score
AKAP17A	CEP70	psi-mi:“MI:0915”(physical association)	0.780
CEP70	AKAP17A	psi-mi:“MI:0915”(physical association)	0.780
AKAP17A	ZRANB2	psi-mi:“MI:0915”(physical association)	0.650
AKAP17A	ZRANB2	psi-mi:“MI:0403”(colocalization)	0.650
AKAP17A	SDCBP2	psi-mi:“MI:0915”(physical association)	0.560
AKAP17A	THAP1	psi-mi:“MI:0915”(physical association)	0.560
SRRM4	AKAP17A	psi-mi:“MI:0915”(physical association)	0.560
AKAP17A	ANKRD36B	psi-mi:“MI:0915”(physical association)	0.560
AKAP17A	HMGXB4	psi-mi:“MI:0915”(physical association)	0.560
RNF4	AKAP17A	psi-mi:“MI:0915”(physical association)	0.560
AKAP17A	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
AKAP17A	DVL3	psi-mi:“MI:0915”(physical association)	0.560
SRPK2	RRP9	psi-mi:“MI:0914”(association)	0.530
RNPS1	CASC3	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
AKAP17A	KTN1	psi-mi:“MI:0915”(physical association)	0.400
NLRP12	AKAP17A	psi-mi:“MI:0915”(physical association)	0.370
MDFI	AKAP17A	psi-mi:“MI:0915”(physical association)	0.370
AKAP17A	CCDC85B	psi-mi:“MI:0915”(physical association)	0.370
AKAP17A	NINL	psi-mi:“MI:0915”(physical association)	0.370
Nedd1		psi-mi:“MI:0914”(association)	0.350
TSNAX		psi-mi:“MI:0914”(association)	0.350
THOC7	ALYREF	psi-mi:“MI:0914”(association)	0.350
Kifbp	TPM1	psi-mi:“MI:0914”(association)	0.350
SNCA	SRRM1	psi-mi:“MI:0914”(association)	0.350

BioGRID (131): AKAP17A (Two-hybrid), AKAP17A (Two-hybrid), CALCOCO2 (Two-hybrid), THAP1 (Two-hybrid), CEP70 (Two-hybrid), KRT40 (Two-hybrid), AKAP17A (Two-hybrid), CCDC85B (Two-hybrid), NINL (Two-hybrid), AKAP17A (Affinity Capture-MS), AKAP17A (Affinity Capture-MS), AKAP17A (Affinity Capture-MS), AKAP17A (Affinity Capture-MS), AKAP17A (Affinity Capture-MS), AKAP17A (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8HTT5, A0JPQ7, A4FV61, A4IFK0, O75151, O88974, P35689, P49140, P55265, P55266, P97432, Q02040, Q0VEE6, Q14202, Q14596, Q15047, Q15554, Q501R9, Q53GL0, Q5EAN7, Q5F3F2, Q5HYC2, Q5R6F3, Q5RC94, Q5RF77, Q5SYB0, Q642B6, Q69Z66, Q69Z99, Q6P3Z3, Q76CY8, Q810L3, Q86XL3, Q8C4S8, Q8ND82, Q8NE31, Q8WY91, Q91VL8, Q95JV5, Q96EP1

Diamond homologs: A2A3V1, Q02040

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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
Transport of Mature Transcript to Cytoplasm	5	43.3×	6e-06
mRNA 3’-end processing	9	40.3×	2e-10
RNA Polymerase II Transcription Termination	6	29.9×	4e-06
Transport of Mature mRNA derived from an Intron-Containing Transcript	8	27.7×	5e-08
mRNA Splicing	6	15.0×	1e-04
Processing of Capped Intron-Containing Pre-mRNA	7	13.1×	5e-05
mRNA Splicing - Major Pathway	8	9.9×	5e-05
Dengue Virus-Host Interactions	8	8.3×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
RNA splicing	10	14.5×	7e-07
mRNA processing	8	10.3×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	1
Uncertain significance	9
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
145978	GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1	Pathogenic
146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	Pathogenic
146330	GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0	Pathogenic
146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	Pathogenic
146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	Pathogenic
146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	Pathogenic
146854	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3	Pathogenic
147316	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1	Pathogenic
147711	GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1	Pathogenic
147731	GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0	Pathogenic
148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	Pathogenic
148817	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1	Pathogenic
148818	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0	Pathogenic
149707	GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1	Pathogenic
152898	GRCh38/hg38 Xp22.33(chrX:21267-2299223)x1	Pathogenic
152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	Pathogenic
153179	GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1	Pathogenic
153601	GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1	Pathogenic
155003	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1	Pathogenic
155630	GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0	Pathogenic
3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	Pathogenic
57347	GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1	Pathogenic
58554	GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3	Pathogenic
58557	GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3	Pathogenic
59167	GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0	Pathogenic
59168	GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1	Pathogenic
59169	GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1	Pathogenic
59183	GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1	Pathogenic
59187	GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1	Pathogenic
155352	GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3	Likely pathogenic

SpliceAI

779 predictions. Top by Δscore:

Variant	Effect	Δscore
X:1591766:GCAG:G	donor_gain	1.0000
X:1591770:G:GG	donor_gain	1.0000
X:1591770:GTG:G	donor_loss	1.0000
X:1593442:A:AG	acceptor_gain	1.0000
X:1593442:AG:A	acceptor_gain	1.0000
X:1593443:G:A	acceptor_gain	1.0000
X:1593443:G:GA	acceptor_gain	1.0000
X:1593443:GGC:G	acceptor_gain	1.0000
X:1593443:GGCC:G	acceptor_gain	1.0000
X:1593443:GGCCC:G	acceptor_gain	1.0000
X:1594220:TCAAG:T	donor_gain	1.0000
X:1594223:AG:A	donor_gain	1.0000
X:1594224:GG:G	donor_gain	1.0000
X:1594224:GGT:G	donor_loss	1.0000
X:1594225:G:GG	donor_gain	1.0000
X:1594226:T:A	donor_loss	1.0000
X:1595379:TAAA:T	acceptor_loss	1.0000
X:1595380:AAAG:A	acceptor_gain	1.0000
X:1595382:A:AT	acceptor_loss	1.0000
X:1595383:GGTT:G	acceptor_gain	1.0000
X:1595383:GGTTT:G	acceptor_gain	1.0000
X:1595501:G:GT	donor_gain	1.0000
X:1595529:A:T	donor_gain	1.0000
X:1599428:CCAAG:C	donor_loss	1.0000
X:1599429:CAAG:C	donor_loss	1.0000
X:1599430:AAGGT:A	donor_loss	1.0000
X:1599433:G:GA	donor_loss	1.0000
X:1600655:GCA:G	acceptor_loss	1.0000
X:1600658:GGCT:G	acceptor_gain	1.0000
X:1591768:AG:A	donor_gain	0.9900

AlphaMissense

9168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:1593563:T:A	V34E	1.000
Y:1593569:T:A	L36H	1.000
Y:1593569:T:C	L36P	1.000
Y:1593599:T:A	I46N	1.000
Y:1593599:T:C	I46T	1.000
Y:1593599:T:G	I46S	1.000
Y:1593602:C:A	S47Y	1.000
Y:1593602:C:T	S47F	1.000
Y:1593606:C:A	N48K	1.000
Y:1593606:C:G	N48K	1.000
Y:1593607:T:A	W49R	1.000
Y:1593607:T:C	W49R	1.000
Y:1593608:G:C	W49S	1.000
Y:1593609:G:C	W49C	1.000
Y:1593609:G:T	W49C	1.000
Y:1593626:T:C	L55P	1.000
Y:1593662:T:C	L67P	1.000
Y:1593676:A:C	S72R	1.000
Y:1593678:C:A	S72R	1.000
Y:1593678:C:G	S72R	1.000
Y:1593692:T:A	I77N	1.000
Y:1593695:G:C	R78P	1.000
Y:1593698:T:C	F79S	1.000
Y:1593703:G:A	G81R	1.000
Y:1593703:G:C	G81R	1.000
Y:1593703:G:T	G81W	1.000
Y:1593704:G:A	G81E	1.000
Y:1593770:T:A	L103H	1.000
Y:1593770:T:C	L103P	1.000
Y:1593776:G:A	G105D	1.000

dbSNP variants (sampled 300 via entrez): RS111161782 (X:1596662 T>C), RS111161783 (X:1596666 T>A,C), RS111162435 (X:1596680 C>A,T), RS111256340 (X:1593449 A>G,T), RS111332569 (X:1599780 T>C), RS111402127 (X:1596934 A>C,G,T), RS111428541 (X:1602870 T>C,G), RS111642543 (X:1596887 T>A,C,G), RS111699390 (X:1596440 C>G,T), RS111867018 (X:1601515 A>C,G), RS112051499 (X:1596586 C>A,T), RS112072876 (X:1596633 C>A,G,T), RS112074038 (X:1595964 A>C,G), RS112387445 (X:1595241 C>G,T), RS112478618 (X:1596615 T>C)

Disease associations

OMIM: gene MIM:312095, MIM:465000 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Benzo(a)pyrene	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Particulate Matter	affects expression, increases reaction, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	increases expression	1
2-palmitoylglycerol	increases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	increases reaction, affects expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Vehicle Emissions	affects expression, increases reaction	1
Benzene	increases expression	1
Caffeine	affects phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Ozone	affects expression, increases abundance	1
Phenobarbital	affects expression	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders