TAF9B

Summary

TAF9B (TATA-box binding protein associated factor 9b, HGNC:17306) is a protein-coding gene on chromosome Xq21.1, encoding Transcription initiation factor TFIID subunit 9B (Q9HBM6). Essential for cell viability.

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process.

Source: NCBI Gene 51616 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_015975

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17306
Approved symbol	TAF9B
Name	TATA-box binding protein associated factor 9b
Location	Xq21.1
Locus type	gene with protein product
Status	Approved
Aliases	TAFII31L, DN-7, DN7, TFIID-31
Ensembl gene	ENSG00000187325
Ensembl biotype	protein_coding
OMIM	300754
Entrez	51616

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000341864, ENST00000480681, ENST00000888658, ENST00000888659, ENST00000888660, ENST00000919135, ENST00000971892

RefSeq mRNA: 1 — MANE Select: NM_015975 NM_015975

CCDS: CCDS35340

Canonical transcript exons

ENST00000341864 — 7 exons

Exon	Start	End
ENSE00001619226	78129748	78131773
ENSE00001627287	78137962	78138098
ENSE00001650044	78137749	78137883
ENSE00001702410	78139561	78139650
ENSE00003475007	78138843	78138924
ENSE00003640122	78136915	78136990
ENSE00003647435	78133338	78133448

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 94.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.2643 / max 709.2069, expressed in 1772 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199803	23.2522	1760
199805	1.5282	911
199806	1.1995	776
199804	0.2843	124

Top tissues by expression

285 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	94.17	gold quality
saphenous vein	UBERON:0007318	93.69	gold quality
vena cava	UBERON:0004087	92.96	gold quality
ganglionic eminence	UBERON:0004023	91.12	gold quality
corpus callosum	UBERON:0002336	90.93	gold quality
endothelial cell	CL:0000115	90.88	gold quality
inferior vagus X ganglion	UBERON:0005363	90.70	gold quality
ventricular zone	UBERON:0003053	90.62	gold quality
islet of Langerhans	UBERON:0000006	90.33	gold quality
middle temporal gyrus	UBERON:0002771	90.22	gold quality
pons	UBERON:0000988	90.20	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.67	gold quality
trigeminal ganglion	UBERON:0001675	89.62	gold quality
calcaneal tendon	UBERON:0003701	89.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.55	gold quality
mucosa of stomach	UBERON:0001199	89.53	gold quality
lower esophagus	UBERON:0013473	89.51	gold quality
subthalamic nucleus	UBERON:0001906	89.30	gold quality
anterior cingulate cortex	UBERON:0009835	89.05	gold quality
lateral globus pallidus	UBERON:0002476	89.03	gold quality
germinal epithelium of ovary	UBERON:0001304	89.02	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.00	gold quality
cerebellar vermis	UBERON:0004720	88.94	gold quality
ventral tegmental area	UBERON:0002691	88.91	gold quality
cingulate cortex	UBERON:0003027	88.89	gold quality
superior vestibular nucleus	UBERON:0007227	88.86	gold quality
spinal cord	UBERON:0002240	88.62	gold quality
amygdala	UBERON:0001876	88.55	gold quality
cortical plate	UBERON:0005343	88.55	gold quality
urethra	UBERON:0000057	88.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

182 targeting TAF9B, 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-3163	100.00	77.23	8605
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-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
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-511-3P	99.99	68.85	1467
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
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-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3688-3P	99.97	72.02	2834

Literature-anchored findings (GeneRIF, showing 2)

• RNA interference experiments suggest that TAF9L is essential for HeLa cell growth and this protein is involved in transcriptional repression. (PMID:12837753)
• TAF9b (TAF9L) was identified as a subunit of TFIID. (PMID:15899866)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Taf9b	ENSMUSG00000047242
rattus_norvegicus	Taf9b	ENSRNOG00000061102
drosophila_melanogaster	Taf9	FBGN0000617
caenorhabditis_elegans		WBGENE00006391

Paralogs (1): TAF9 (ENSG00000273841)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 9B — Q9HBM6 (reviewed: Q9HBM6)

Alternative names: Neuronal cell death-related protein 7, Transcription initiation factor TFIID subunit 9-like, Transcription-associated factor TAFII31L

All UniProt accessions (1): Q9HBM6

UniProt curated annotations — full annotation on UniProt →

Function. Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription.

Subunit / interactions. Binds TAF5 and TAF6. Component of TFIID and the TATA-binding protein-free TAF complex (TFTC). TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Binds N-terminal domain of p53/TP53 which is essential for transcription.

Subcellular location. Nucleus.

Similarity. Belongs to the TAF9 family.

RefSeq proteins (1): NP_057059* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003162	TFIID-31	Family
IPR009072	Histone-fold	Homologous_superfamily
IPR051431	TFIID_subunit_9/TAF9	Family

Pfam: PF02291

UniProt features (15 total): helix 5, modified residue 5, sequence conflict 2, chain 1, region of interest 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9RDK	ELECTRON MICROSCOPY	2.41
7KTR	ELECTRON MICROSCOPY	2.93
7KTS	ELECTRON MICROSCOPY	19.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBM6-F1	67.51	0.31

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 (5): 1, 147, 159, 174, 177

Function

Pathways and Gene Ontology

Reactome pathways

24 pathways

ID	Pathway
R-HSA-167161	HIV Transcription Initiation
R-HSA-167162	RNA Polymerase II HIV Promoter Escape
R-HSA-167172	Transcription of the HIV genome
R-HSA-5689880	Ub-specific processing proteases
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-73776	RNA Polymerase II Promoter Escape
R-HSA-73779	RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-75953	RNA Polymerase II Transcription Initiation
R-HSA-76042	RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-162587	HIV Life Cycle
R-HSA-162599	Late Phase of HIV Life Cycle
R-HSA-162906	HIV Infection
R-HSA-1643685	Disease
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-392499	Metabolism of proteins
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5663205	Infectious disease
R-HSA-5688426	Deubiquitination
R-HSA-597592	Post-translational protein modification
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 231 (showing top): ELVIDGE_HYPOXIA_DN, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GCM_GSPT1, GOBP_GROWTH, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GCM_BCL2L1, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, REACTOME_HIV_INFECTION, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, AAACCAC_MIR140, MODULE_239, GOBP_APOPTOTIC_SIGNALING_PATHWAY, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH

GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA-templated transcription initiation (GO:0006352), positive regulation of cell growth (GO:0030307), negative regulation of apoptotic process (GO:0043066), protein stabilization (GO:0050821), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), transcription by RNA polymerase II (GO:0006366)

GO Molecular Function (4): transcription corepressor activity (GO:0003714), RNA polymerase II general transcription initiation factor activity (GO:0016251), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), transcription factor TFTC complex (GO:0033276), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
RNA Polymerase II Transcription	4
Transcription of the HIV genome	2
RNA Polymerase II Transcription Initiation And Promoter Clearance	2
Late Phase of HIV Life Cycle	1
Deubiquitination	1
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Disease	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
DNA-templated transcription	2
RNA polymerase II, holoenzyme	2
RNA polymerase II transcription regulator complex	2
regulation of transcription by RNA polymerase II	1
RNA biosynthetic process	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
positive regulation of cellular process	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
regulation of protein stability	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
transcription coregulator activity	1
general transcription initiation factor activity	1
protein dimerization activity	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
SAGA-type complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1507 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF9B	TAF6	P49848	918
TAF9B	TAF10	Q12962	862
TAF9B	TAF5L	O75529	829
TAF9B	TAF12	Q16514	770
TAF9B	TAF4	O00268	743
TAF9B	TBP	P20226	691
TAF9B	USP22	Q9UPT9	691
TAF9B	TAF6L	Q9Y6J9	684
TAF9B	TAF7L	Q5H9L4	640
TAF9B	TRRAP	Q9Y4A5	634
TAF9B	TAF5	Q15542	630
TAF9B	TADA3	O75528	610
TAF9B	SUPT3H	O75486	602
TAF9B	SUPT7L	O94864	583
TAF9B	ATXN7	O15265	567

IntAct

114 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
TAF9B	TAF6L	psi-mi:“MI:0915”(physical association)	0.830
MED9	MED19	psi-mi:“MI:0914”(association)	0.790
DRAP1	TAF9B	psi-mi:“MI:0915”(physical association)	0.780
TAF9B	DRAP1	psi-mi:“MI:0915”(physical association)	0.780
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TRRAP	ATXN7	psi-mi:“MI:0914”(association)	0.740
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.740
TADA1	TAF5L	psi-mi:“MI:0914”(association)	0.640
ATXN7L3	USP27X	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
TADA1	TADA3	psi-mi:“MI:0914”(association)	0.640
TAF8	TAF4	psi-mi:“MI:0914”(association)	0.530
TADA2B	SUPT3H	psi-mi:“MI:0914”(association)	0.530
SPATA25	TAF4	psi-mi:“MI:0914”(association)	0.530

BioGRID (187): TAF9B (Two-hybrid), TAF9B (Two-hybrid), TAF9B (Protein-peptide), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Affinity Capture-MS), TAF9B (Two-hybrid), TAF9B (Two-hybrid), TAF4 (Co-fractionation), TAF5 (Co-fractionation), TAF6 (Co-fractionation)

ESM2 similar proteins: A0JNE3, B5DE69, O04027, O23310, O82248, P13434, P25207, P25208, P25209, P25210, P25211, P40096, P40914, P63139, P63140, P81069, Q00420, Q00422, Q06546, Q06547, Q08639, Q0V8G2, Q14186, Q14188, Q15544, Q17QZ4, Q1RMI3, Q27272, Q32KW0, Q5QMG3, Q5RA91, Q5U1X0, Q60EQ4, Q62814, Q65XK1, Q66J63, Q67XJ2, Q6FXD0, Q6RG77, Q7ZX03

Diamond homologs: O45784, Q16594, Q17QQ4, Q5BKE0, Q5R7P7, Q62880, Q6NZA9, Q8VI33, Q9HBM6, Q05027, Q09869, Q9SYH2, Q27272, Q8SSI9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 100 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
HIV Transcription Initiation	8	29.6×	8e-09
RNA Polymerase II HIV Promoter Escape	8	29.6×	8e-09
RNA Polymerase II Promoter Escape	8	29.6×	8e-09
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	8	29.6×	8e-09
RNA Polymerase II Transcription Initiation	8	29.6×	8e-09
RNA Polymerase II Transcription Initiation And Promoter Clearance	8	29.6×	8e-09
Transcription of the HIV genome	8	22.0×	9e-08
HIV Life Cycle	8	20.4×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	18	52.9×	3e-24
regulation of RNA splicing	16	37.2×	7e-19
RNA polymerase II preinitiation complex assembly	11	31.8×	5e-12
positive regulation of transcription initiation by RNA polymerase II	10	28.9×	2e-10
transcription initiation at RNA polymerase II promoter	6	23.9×	2e-05
mRNA transcription by RNA polymerase II	6	21.1×	3e-05
cellular response to UV	6	18.9×	5e-05
transcription by RNA polymerase II	10	7.5×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

742 predictions. Top by Δscore:

Variant	Effect	Δscore
X:78133332:CATTA:C	donor_loss	1.0000
X:78133333:ATTAC:A	donor_loss	1.0000
X:78133334:TTAC:T	donor_loss	1.0000
X:78133335:TACCT:T	donor_loss	1.0000
X:78133336:ACCT:A	donor_loss	1.0000
X:78133337:C:CT	donor_loss	1.0000
X:78133455:T:TC	acceptor_gain	1.0000
X:78136909:ACTT:A	donor_loss	1.0000
X:78136910:CTTA:C	donor_loss	1.0000
X:78136911:TTACC:T	donor_loss	1.0000
X:78136912:TACCT:T	donor_loss	1.0000
X:78136913:ACCT:A	donor_loss	1.0000
X:78136914:C:A	donor_loss	1.0000
X:78136989:CC:C	acceptor_gain	1.0000
X:78136990:CC:C	acceptor_gain	1.0000
X:78137884:C:CC	acceptor_gain	1.0000
X:78137885:T:C	acceptor_gain	1.0000
X:78137885:T:TC	acceptor_gain	1.0000
X:78137956:GCTCA:G	donor_loss	1.0000
X:78137957:CTCA:C	donor_loss	1.0000
X:78137958:TCACA:T	donor_loss	1.0000
X:78137959:CA:C	donor_loss	1.0000
X:78137960:A:AC	donor_gain	1.0000
X:78137960:A:AG	donor_loss	1.0000
X:78137961:C:A	donor_loss	1.0000
X:78137961:C:CC	donor_gain	1.0000
X:78137961:CATCT:C	donor_gain	1.0000
X:78138094:ATAAC:A	acceptor_gain	1.0000
X:78138095:TAAC:T	acceptor_gain	1.0000
X:78138097:AC:A	acceptor_gain	1.0000

AlphaMissense

1639 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:78137807:G:T	P116Q	1.000
X:78137810:A:T	L115Q	1.000
X:78137843:A:C	L104W	1.000
X:78137843:A:G	L104S	1.000
X:78137854:A:C	N100K	1.000
X:78137854:A:T	N100K	1.000
X:78137868:C:G	A96P	1.000
X:78138011:G:T	A74E	1.000
X:78138012:C:G	A74P	1.000
X:78138014:A:G	L73P	1.000
X:78138024:C:G	D70H	1.000
X:78138071:G:T	A54E	1.000
X:78138072:C:G	A54P	1.000
X:78138098:C:G	R45P	1.000
X:78138855:C:T	E41K	1.000
X:78138863:T:G	Q38P	1.000
X:78138872:A:T	V35D	1.000
X:78138908:A:G	L23P	1.000
X:78137775:A:C	Y127D	0.999
X:78137776:G:C	N126K	0.999
X:78137776:G:T	N126K	0.999
X:78137791:G:C	C121W	0.999
X:78137792:C:T	C121Y	0.999
X:78137797:T:A	R119S	0.999
X:78137797:T:G	R119S	0.999
X:78137798:C:G	R119T	0.999
X:78137807:G:C	P116R	0.999
X:78137808:G:A	P116S	0.999
X:78137808:G:T	P116T	0.999
X:78137810:A:C	L115R	0.999

dbSNP variants (sampled 300 via entrez): RS1000285906 (X:78131872 T>A), RS1000672975 (X:78138400 T>C), RS1001377763 (X:78140716 C>G,T), RS1001852250 (X:78139205 G>T), RS1002731733 (X:78134402 G>A), RS1003193997 (X:78134895 G>A), RS1003853524 (X:78139623 A>G,T), RS1004138807 (X:78132323 G>A), RS1005587328 (X:78132361 A>G), RS1005638148 (X:78132774 C>T), RS1006860645 (X:78139794 C>G,T), RS1006911122 (X:78133928 G>A,C), RS1007268087 (X:78133459 A>C,G,T), RS1007955012 (X:78140165 G>A,C), RS1008007507 (X:78139867 C>T)

Disease associations

OMIM: gene MIM:300754 | 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

1 associations (top):

Study	Trait	p-value
GCST006031_15	Potassium levels	3.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009283	potassium measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	7
methylmercuric chloride	decreases expression, increases expression	2
trichostatin A	affects expression, decreases expression	2
monomethylarsonous acid	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
tungsten carbide	affects binding, decreases expression	1
oxybenzone	increases expression	1
bisphenol A	decreases expression	1
3,4-dichloroaniline	decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
NSC 689534	decreases expression	1
Decitabine	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Vorinostat	affects expression	1
Air Pollutants	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	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