SVBP

Summary

SVBP (small vasohibin binding protein, HGNC:29204) is a protein-coding gene on chromosome 1p34.2, encoding Small vasohibin-binding protein (Q8N300). Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin.

Enables microtubule binding activity and peptidase activator activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell.

Source: NCBI Gene 374969 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 20 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 33
• MANE Select transcript: NM_199342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29204
Approved symbol	SVBP
Name	small vasohibin binding protein
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC45441
Ensembl gene	ENSG00000177868
Ensembl biotype	protein_coding
OMIM	617853
Entrez	374969

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000372521, ENST00000372522, ENST00000497437, ENST00000881555, ENST00000881556, ENST00000881557, ENST00000928139, ENST00000928140

RefSeq mRNA: 1 — MANE Select: NM_199342 NM_199342

CCDS: CCDS474

Canonical transcript exons

ENST00000372521 — 3 exons

Exon	Start	End
ENSE00001458010	42807052	42807500
ENSE00003513581	42816431	42816580
ENSE00003842080	42817190	42817397

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 98.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8267 / max 146.0159, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12003	9.3379	1772
12002	7.6783	1746
12001	1.5839	837
12000	0.2266	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.57	gold quality
ganglionic eminence	UBERON:0004023	97.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.08	gold quality
right testis	UBERON:0004534	94.00	gold quality
left testis	UBERON:0004533	93.97	gold quality
testis	UBERON:0000473	93.29	gold quality
calcaneal tendon	UBERON:0003701	93.29	gold quality
monocyte	CL:0000576	93.25	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.14	gold quality
leukocyte	CL:0000738	92.90	gold quality
spinal cord	UBERON:0002240	92.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.04	gold quality
amygdala	UBERON:0001876	91.46	gold quality
ventricular zone	UBERON:0003053	91.16	gold quality
cerebellar hemisphere	UBERON:0002245	91.08	gold quality
layer of synovial tissue	UBERON:0007616	91.08	gold quality
cerebellar vermis	UBERON:0004720	91.04	gold quality
tibial nerve	UBERON:0001323	91.02	gold quality
cerebellar cortex	UBERON:0002129	91.01	gold quality
hypothalamus	UBERON:0001898	90.98	gold quality
anterior cingulate cortex	UBERON:0009835	90.83	gold quality
pituitary gland	UBERON:0000007	90.74	gold quality
cerebellum	UBERON:0002037	90.62	gold quality
adenohypophysis	UBERON:0002196	90.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.62	gold quality
apex of heart	UBERON:0002098	90.58	gold quality
tibial artery	UBERON:0007610	90.48	gold quality
popliteal artery	UBERON:0002250	90.47	gold quality
right frontal lobe	UBERON:0002810	90.42	gold quality
left ovary	UBERON:0002119	90.36	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	26.37
E-HCAD-5	yes	13.71
E-ANND-3	yes	8.73
E-GEOD-93593	no	13.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting SVBP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-371A-5P	99.08	66.51	1914
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4670-3P	97.37	68.35	1378

Literature-anchored findings (GeneRIF, showing 7)

• SVBP(CCDC23)acts as a secretory chaperone for VASH1. (PMID:20736312)
• VASH2 contributes to the angiogenesis in hepatocellular carcinoma via an SVBP-mediated paracrine mechanism. (PMID:22614011)
• identified a novel UPS regulatory system in which essential domain architecture (VASH-PS) of VASHs, comprising regions VASH191-180 and VASH280-169 , regulate the cytosolic punctate structure formation in the absence of SVBP. (PMID:27879017)
• SVBP is not only involved in angiogenesis, but also has vital functions in the central nervous system. Biallelic loss-of-function variants in SVBP lead to intellectual disability. (PMID:30607023)
• The authors identified a core heterodimeric complex of human small vasohibin-binding protein (SVBP) and vasohibin 1 (VASH1) that catalyzes the detyrosination of a peptide derived from C-terminus of alpha-tubulin. (PMID:31171830)
• This study examined the crystal structures of human vasohibin 1 and 2 in complex with small vasohibin-binding protein (SVBP) in the absence and presence of different inhibitors and a C-terminal alpha-tubulin peptide. (PMID:31235911)
• This study describes the crystal and solution structure of the tubulin carboxypeptidase complex between vasohibin (VASH1) and small vasohibin-binding protein (SVBP), which folds in a long helix, which stabilizes the VASH1 catalytic domain. (PMID:31270470)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	svbp	ENSDARG00000102305
mus_musculus	Svbp	ENSMUSG00000028643
rattus_norvegicus	Svbp	ENSRNOG00000007404

Protein

Protein identifiers

Small vasohibin-binding protein — Q8N300 (reviewed: Q8N300)

Alternative names: Coiled coil domain-containing protein 23

All UniProt accessions (1): Q8N300

UniProt curated annotations — full annotation on UniProt →

Function. Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin. This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyronisation regulates mitotic spindle length and postioning. Also required to enhance the solubility and secretion of VASH1 and VASH2. Plays a role in axon and excitatory synapse formation.

Subunit / interactions. Interacts with VASH1 and VASH2.

Subcellular location. Cytoplasm. Secreted. Cytoskeleton.

Disease relevance. Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM) [MIM:618569] An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SVBP family.

RefSeq proteins (1): NP_955374* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031378	SVBP	Family

Pfam: PF15674

UniProt features (22 total): mutagenesis site 15, helix 2, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
6J4P	X-RAY DIFFRACTION	1.6
6J7B	X-RAY DIFFRACTION	1.62
6OCG	X-RAY DIFFRACTION	1.83
6J8O	X-RAY DIFFRACTION	1.85
6J8N	X-RAY DIFFRACTION	1.95
6J4U	X-RAY DIFFRACTION	2
6OCH	X-RAY DIFFRACTION	2
6QBY	X-RAY DIFFRACTION	2.09
6J4V	X-RAY DIFFRACTION	2.1
6NVQ	X-RAY DIFFRACTION	2.1
6OCF	X-RAY DIFFRACTION	2.1
6JZC	X-RAY DIFFRACTION	2.2
6K81	X-RAY DIFFRACTION	2.28
6J8F	X-RAY DIFFRACTION	2.28
6J4O	X-RAY DIFFRACTION	2.3
6LPG	X-RAY DIFFRACTION	2.3
6J9H	X-RAY DIFFRACTION	2.31
6JZD	X-RAY DIFFRACTION	2.48
6JZE	X-RAY DIFFRACTION	2.51
6J4Q	X-RAY DIFFRACTION	2.7
6J4S	X-RAY DIFFRACTION	2.8
6WSL	ELECTRON MICROSCOPY	3.1
6J91	X-RAY DIFFRACTION	3.5
7ZCW	ELECTRON MICROSCOPY	3.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N300-F1	85.50	0.61

Functional residue map

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

Mutagenesis-validated functional residues (15):

Position	Phenotype
39–42	strongly decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
39–40	strongly decreased interaction with vash1. decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin. disrupte
39	no effect on vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
40	no effect on vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
42–43	decreased interaction with vash1. almost abolished vash1 tyrosine carboxypeptidase activity on alpha-tubulin. strongly d
42	no effect on vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
43	decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
45–46	slightly decreased interaction with vash1. decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin. no effec
47	decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
50–54	no effect on interaction with vash2. no effect on vash2 tyrosine carboxypeptidase activity on alpha-tubulin.
32	decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
34	no effect on vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
35–36	strongly decreased interaction with vash1. decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin. strongly
35	decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.
36	decreased vash1 tyrosine carboxypeptidase activity on alpha-tubulin.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 216 (showing top): GOBP_NEUROGENESIS, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, chr1p34, GOBP_REGULATION_OF_PEPTIDASE_ACTIVITY, GOBP_SECRETION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_CELL_PROJECTION_ORGANIZATION, DELASERNA_MYOD_TARGETS_UP, GOBP_REGULATION_OF_PROTEOLYSIS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS, NUYTTEN_EZH2_TARGETS_DN, GOCC_APICAL_PART_OF_CELL

GO Biological Process (6): proteolysis (GO:0006508), protein secretion (GO:0009306), negative regulation of endothelial cell migration (GO:0010596), negative regulation of protein ubiquitination (GO:0031397), axon development (GO:0061564), regulation of metallopeptidase activity (GO:1905048)

GO Molecular Function (3): microtubule binding (GO:0008017), peptidase activator activity (GO:0016504), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), apical part of cell (GO:0045177)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein metabolic process	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
regulation of endothelial cell migration	1
negative regulation of cell migration	1
endothelial cell migration	1
protein ubiquitination	1
regulation of protein ubiquitination	1
negative regulation of protein modification by small protein conjugation or removal	1
neuron projection development	1
metallopeptidase activity	1
regulation of peptidase activity	1
tubulin binding	1
enzyme activator activity	1
peptidase activity	1
peptidase regulator activity	1
binding	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SVBP	VASH1	Q7L8A9	989
SVBP	VASH2	Q86V25	862
SVBP	TTL	Q8NG68	775
SVBP	TTLL7	Q6ZT98	482
SVBP	TTLL10	Q6ZVT0	482
SVBP	AGTPBP1	Q9UPW5	480
SVBP	MS4A5	Q9H3V2	460
SVBP	BCS1L	Q9Y276	449
SVBP	TTLL8	A6PVC2	433
SVBP	TTLL5	Q6EMB2	427
SVBP	TTLL4	Q14679	426
SVBP	MAP4	P27816	409
SVBP	CFAP144	A6NL82	398
SVBP	C1orf50	Q9BV19	393
SVBP	MAP7	Q14244	388

IntAct

3 interactions, top by confidence:

A	B	Type	Score
SVBP	VASH1	psi-mi:“MI:0407”(direct interaction)	0.620
VASH1	SVBP	psi-mi:“MI:0407”(direct interaction)	0.620

BioGRID (4): CCDC23 (Affinity Capture-MS), CCDC23 (Cross-Linking-MS (XL-MS)), CCDC23 (Affinity Capture-Western), VASH1 (Affinity Capture-Western)

ESM2 similar proteins: A0A024R1R8, A1A4Q4, A1CMP1, A2R091, A3N0X3, A5DF06, A6R5Z3, A6S6B0, A6ZWL1, A7F9B8, B0BPQ7, B3GXV7, H3BMG3, O31573, P25886, P47915, Q02642, Q05AK9, Q05AX4, Q06DK3, Q0ULD0, Q13442, Q1DI23, Q1HRV4, Q20588, Q28GR1, Q32KU9, Q32LJ0, Q3E764, Q3UHX2, Q4KLG3, Q4P9Y9, Q4SUE2, Q55F75, Q5ASI4, Q5RCI9, Q60QR6, Q62785, Q66654, Q6C2F3

Diamond homologs: B5FZ42, P0C8M3, Q32LJ0, Q4KLG3, Q8N300, Q99LQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
3774479	L49P	Pathogenic
4075825	NM_199342.4(SVBP):c.76del (p.Ser26fs)	Pathogenic
635969	NM_199342.4(SVBP):c.39_42del (p.Lys13fs)	Pathogenic
1334972	NM_199342.4(SVBP):c.105_106del (p.Arg36fs)	Likely pathogenic
2500213	NM_199342.4(SVBP):c.146T>C (p.Leu49Pro)	Likely pathogenic
4278942	NM_199342.4(SVBP):c.22G>T (p.Glu8Ter)	Likely pathogenic

SpliceAI

193 predictions. Top by Δscore:

Variant	Effect	Δscore
1:42816430:CCT:C	donor_gain	1.0000
1:42817210:G:GT	donor_gain	1.0000
1:42817251:A:T	donor_gain	1.0000
1:42807496:TAGAT:T	acceptor_gain	0.9900
1:42807498:GAT:G	acceptor_gain	0.9900
1:42807500:TCT:T	acceptor_loss	0.9900
1:42807501:CT:C	acceptor_loss	0.9900
1:42807502:T:A	acceptor_loss	0.9900
1:42816425:TCTCA:T	donor_loss	0.9900
1:42816426:CTCA:C	donor_loss	0.9900
1:42816427:TCA:T	donor_loss	0.9900
1:42816428:CACC:C	donor_loss	0.9900
1:42816429:A:AG	donor_loss	0.9900
1:42816430:CC:C	donor_loss	0.9900
1:42817179:G:GT	donor_gain	0.9900
1:42817249:G:GT	donor_gain	0.9900
1:42817249:GGAGG:G	donor_gain	0.9900
1:42817250:G:GT	donor_gain	0.9900
1:42817250:G:T	donor_gain	0.9900
1:42817252:GG:G	donor_gain	0.9900
1:42817253:GG:G	donor_gain	0.9900
1:42807501:C:CC	acceptor_gain	0.9800
1:42817250:GAGG:G	donor_gain	0.9800
1:42817210:G:T	donor_gain	0.9700
1:42807497:AGAT:A	acceptor_gain	0.9600
1:42817251:AGGG:A	donor_loss	0.9600
1:42817252:GGGTA:G	donor_loss	0.9600
1:42817253:GGTAA:G	donor_loss	0.9600
1:42817254:G:A	donor_loss	0.9600
1:42817255:T:G	donor_loss	0.9600

AlphaMissense

433 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:42807444:G:C	F57L	0.999
1:42807444:G:T	F57L	0.999
1:42807446:A:G	F57L	0.999
1:42807453:A:C	F54L	0.999
1:42807453:A:T	F54L	0.999
1:42807455:A:G	F54L	0.999
1:42807478:A:G	M46T	0.999
1:42807490:A:T	L42H	0.999
1:42807454:A:C	F54C	0.998
1:42807454:A:G	F54S	0.998
1:42807477:C:A	M46I	0.998
1:42807477:C:G	M46I	0.998
1:42807477:C:T	M46I	0.998
1:42807490:A:G	L42P	0.998
1:42807499:A:G	I39T	0.998
1:42816437:T:A	R36S	0.998
1:42816437:T:G	R36S	0.998
1:42807475:G:A	T47I	0.997
1:42807445:A:G	F57S	0.996
1:42807466:T:A	E50V	0.996
1:42807487:T:A	N43I	0.996
1:42807499:A:C	I39S	0.996
1:42816438:C:G	R36T	0.996
1:42816449:C:A	K32N	0.995
1:42816449:C:G	K32N	0.995
1:42807455:A:T	F54I	0.994
1:42807465:C:A	E50D	0.994
1:42807465:C:G	E50D	0.994
1:42807478:A:C	M46R	0.994
1:42807486:G:C	N43K	0.994

dbSNP variants (sampled 300 via entrez): RS1000119763 (1:42817601 C>A,T), RS1000193435 (1:42818031 A>G), RS1000884905 (1:42808280 T>C), RS1000977241 (1:42816218 C>A,T), RS1001110559 (1:42807022 G>A), RS1001141617 (1:42807334 T>TCC), RS1001315553 (1:42807952 A>G), RS1001417382 (1:42812968 GTTTT>G,GTTT,GTTTTT), RS1001491542 (1:42815510 C>T), RS1001518112 (1:42812173 CAT>C), RS1001787140 (1:42807013 T>A,C), RS1001947436 (1:42812439 G>C), RS1002334888 (1:42808193 GTATA>G), RS1002495839 (1:42816816 A>G), RS1002526827 (1:42816534 G>A)

Disease associations

OMIM: gene MIM:617853 | disease phenotypes: MIM:618569

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	Strong	Autosomal recessive
syndromic intellectual disability	Supportive	Autosomal dominant

Mondo (4): neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (MONDO:0032816), intellectual disability (MONDO:0001071), microcephaly (MONDO:0001149), syndromic intellectual disability (MONDO:0000508)

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

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000384	Preauricular skin tag
HP:0000431	Wide nasal bridge
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000821	Hypothyroidism
HP:0001171	Split hand
HP:0001182	Tapered finger
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001270	Motor delay
HP:0001335	Bimanual synkinesia
HP:0002079	Hypoplasia of the corpus callosum
HP:0002133	Status epilepticus
HP:0005643	Short 3rd toe
HP:0005768	2-4 toe cutaneous syndactyly
HP:0006989	Dysplastic corpus callosum
HP:0008093	Short 4th toe
HP:0008954	Intrinsic hand muscle atrophy
HP:0009778	Short thumb
HP:0010041	Short 3rd metacarpal
HP:0010044	Short 4th metacarpal
HP:0010047	Short 5th metacarpal
HP:0011220	Prominent forehead
HP:0011359	Dry hair

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
Caffeine	decreases phosphorylation	1
Coumestrol	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

211 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