ARHGAP31

Summary

ARHGAP31 (Rho GTPase activating protein 31, HGNC:29216) is a protein-coding gene on chromosome 3q13.32-q13.33, encoding Rho GTPase-activating protein 31 (Q2M1Z3). Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42.

This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth.

Source: NCBI Gene 57514 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Adams-Oliver syndrome 1 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 665 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 75
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_020754

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29216
Approved symbol	ARHGAP31
Name	Rho GTPase activating protein 31
Location	3q13.32-q13.33
Locus type	gene with protein product
Status	Approved
Aliases	CDGAP
Ensembl gene	ENSG00000031081
Ensembl biotype	protein_coding
OMIM	610911
Entrez	57514

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000264245, ENST00000482743, ENST00000861944

RefSeq mRNA: 1 — MANE Select: NM_020754 NM_020754

CCDS: CCDS43135

Canonical transcript exons

ENST00000264245 — 12 exons

Exon	Start	End
ENSE00000775856	119365316	119365418
ENSE00000775864	119382292	119382399
ENSE00000775865	119383084	119383226
ENSE00000775871	119390785	119390983
ENSE00000823606	119368372	119368516
ENSE00000823607	119380904	119380986
ENSE00000823608	119393467	119393591
ENSE00000823609	119399199	119399261
ENSE00000823610	119401822	119402397
ENSE00000823611	119413856	119420714
ENSE00001149490	119409496	119409776
ENSE00001154482	119294383	119295004

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 93.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9366 / max 434.4104, expressed in 1576 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
38092	7.1815	1169
38089	6.6407	1300
38091	1.6259	727
38088	0.9766	685
38087	0.7972	439
38084	0.7576	242
38085	0.2889	126
38083	0.2298	79
38090	0.2060	80
38093	0.1290	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	93.68	silver quality
left ventricle myocardium	UBERON:0006566	93.55	silver quality
myocardium	UBERON:0002349	90.11	silver quality
trigeminal ganglion	UBERON:0001675	88.38	gold quality
upper arm skin	UBERON:0004263	88.21	silver quality
heart right ventricle	UBERON:0002080	88.04	gold quality
vena cava	UBERON:0004087	87.98	gold quality
colonic epithelium	UBERON:0000397	87.36	gold quality
pancreatic ductal cell	CL:0002079	87.15	silver quality
synovial joint	UBERON:0002217	86.91	gold quality
layer of synovial tissue	UBERON:0007616	86.28	gold quality
dorsal root ganglion	UBERON:0000044	85.75	gold quality
right lung	UBERON:0002167	85.21	gold quality
lower lobe of lung	UBERON:0008949	85.17	gold quality
lung	UBERON:0002048	84.30	gold quality
cardiac ventricle	UBERON:0002082	84.16	gold quality
pericardium	UBERON:0002407	84.07	gold quality
heart left ventricle	UBERON:0002084	84.01	gold quality
sural nerve	UBERON:0015488	83.96	gold quality
smooth muscle tissue	UBERON:0001135	83.53	gold quality
lateral globus pallidus	UBERON:0002476	83.17	gold quality
upper lobe of left lung	UBERON:0008952	83.01	gold quality
upper lobe of lung	UBERON:0008948	83.00	gold quality
heart	UBERON:0000948	82.56	gold quality
nipple	UBERON:0002030	82.15	gold quality
apex of heart	UBERON:0002098	82.04	gold quality
adipose tissue	UBERON:0001013	81.67	gold quality
tendon of biceps brachii	UBERON:0008188	81.67	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.64	gold quality
cardiac atrium	UBERON:0002081	81.55	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	34.28
E-ANND-3	yes	13.54
E-MTAB-7249	no	81.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting ARHGAP31, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-580-3P	99.67	69.23	1841

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 10)

• Results suggest that CdGAP may play an unexpected role in apoptosis. (PMID:16519628)
• CdGAP is a novel glycogen synthase kinase 3alpha (GSK-3alpha) substrate. (PMID:17158447)
• Our findings demonstrate that heterozygous gain-of-function mutations in ARHGAP31 cause an autosomal-dominant form of ACC-TTLD through introduction of premature termination codons in the terminal exon of the gene. (PMID:21565291)
• Rho GTPase activating protein 31 (PMID:21774070)
• specific interaction between negatively charged phospholipid PI(3,4,5)P3 and the stretch of polybasic residues preceding the RhoGAP domain regulates CdGAP activity in vivo and is required for its cellular functions. (PMID:22518840)
• Data demonstrate that cdGAP negatively regulates directed and random migration by controlling adhesion maturation and dynamics through the regulation of both adhesion assembly and disassembly. (PMID:22907917)
• The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis. (PMID:24632816)
• a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31 underscores the relevance of sequencing ARHGAP31 in cases of isolated limb defects, irrespective of presence of a complete Adams-Oliver syndrome phenotype (PMID:24668619)
• Study demonstrate that CdGAP acts as a novel co-transcriptional repressor with Zeb2 to suppress E-cadherin expression in breast cancer cells. (PMID:28135249)
• Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum. (PMID:38790165)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap31	ENSDARG00000059472
mus_musculus	Arhgap31	ENSMUSG00000022799
rattus_norvegicus	Arhgap31	ENSRNOG00000003088
drosophila_melanogaster	CdGAPr	FBGN0032821
caenorhabditis_elegans		WBGENE00009800

Paralogs (3): ARHGAP33 (ENSG00000004777), ARHGAP32 (ENSG00000134909), ARHGAP30 (ENSG00000186517)

Protein

Protein identifiers

Rho GTPase-activating protein 31 — Q2M1Z3 (reviewed: Q2M1Z3)

Alternative names: Cdc42 GTPase-activating protein

All UniProt accessions (3): A0A8S0MHV1, C9J652, Q2M1Z3

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.

Subunit / interactions. Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA. Interacts with GTP-loaded RHOU.

Subcellular location. Cell projection. Lamellipodium. Cell junction. Focal adhesion.

Post-translational modifications. Phosphorylation on Thr-789 reduces GAP activity.

Disease relevance. Adams-Oliver syndrome 1 (AOS1) [MIM:100300] A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_065805* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR051576	PX-Rho_GAP	Family

Pfam: PF00620

UniProt features (46 total): compositionally biased region 17, modified residue 15, sequence variant 6, region of interest 5, chain 1, domain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2M1Z3-F1	43.32	0.13

Functional residue map

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

Catalytic / active sites (1): 56 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (15): 272, 286, 346, 349, 387, 476, 679, 701, 712, 778, 789, 974, 1105, 1106, 1178

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013420	RHOU GTPase cycle

MSigDB gene sets: 310 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, CUI_TCF21_TARGETS_2_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOCC_LAMELLIPODIUM, GOCC_ANCHORING_JUNCTION, GOCC_CELL_LEADING_EDGE, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, GOMF_ENZYME_REGULATOR_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, REACTOME_RHO_GTPASE_CYCLE, GSE13547_WT_VS_ZFX_KO_BCELL_UP

GO Biological Process (3): small GTPase-mediated signal transduction (GO:0007264), regulation of small GTPase mediated signal transduction (GO:0051056), signal transduction (GO:0007165)

GO Molecular Function (3): GTPase activator activity (GO:0005096), SH3 domain binding (GO:0017124), protein binding (GO:0005515)

GO Cellular Component (5): cytosol (GO:0005829), focal adhesion (GO:0005925), lamellipodium (GO:0030027), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	4

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular signaling cassette	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
protein domain specific binding	1
binding	1
cytoplasm	1
cell-substrate junction	1
cell leading edge	1
plasma membrane bounded cell projection	1
cell junction	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP31	KALRN	O60229	877
ARHGAP31	ZEB2	O60315	832
ARHGAP31	MYLK	Q15746	813
ARHGAP31	DOCK6	Q96HP0	694
ARHGAP31	EOGT	Q5NDL2	669
ARHGAP31	CDC42	P21181	664
ARHGAP31	ITSN1	Q15811	631
ARHGAP31	ITSN2	Q9NZM3	613
ARHGAP31	PARVA	Q9NVD7	563
ARHGAP31	RHOA	P06749	555
ARHGAP31	TMEM39A	Q9NV64	520
ARHGAP31	A0A087WT91	A0A087WT91	489
ARHGAP31	TMEM260	Q9NX78	476
ARHGAP31	SYNJ1	O43426	475
ARHGAP31	DNM1	Q05193	475

IntAct

11 interactions, top by confidence:

A	B	Type	Score
ARHGAP31	TLN1	psi-mi:“MI:0407”(direct interaction)	0.590
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ITSN1	ARHGAP31	psi-mi:“MI:0915”(physical association)	0.400
Arhgap28	EZR	psi-mi:“MI:0914”(association)	0.350
ARHGAP31	TIMM23	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
NAA10	SUPT5H	psi-mi:“MI:0914”(association)	0.350
ARHGAP31	hflK	psi-mi:“MI:0915”(physical association)	0.000
RAC1	ARHGAP31	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): ARHGAP31 (Affinity Capture-MS), ARHGAP31 (Proximity Label-MS), ARHGAP31 (Affinity Capture-RNA), ARHGAP31 (FRET), ARHGAP31 (FRET), ARHGAP31 (FRET), ARHGAP31 (Affinity Capture-MS), ARF4 (Affinity Capture-MS), ARL1 (Affinity Capture-MS), ATP5C1 (Affinity Capture-MS), CSTB (Affinity Capture-MS), DHRS7B (Affinity Capture-MS), MRPL10 (Affinity Capture-MS), NME1-NME2 (Affinity Capture-MS), PCNA (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YY25, A6NGG8, A6X8Z5, B2RQL2, B2RXH4, D3ZMK9, D3ZUE1, E9Q7F2, O08696, O14513, P59598, P97691, Q05860, Q05AH6, Q08050, Q0GGX2, Q0VET5, Q13029, Q2M1Z3, Q3U0P1, Q571I4, Q5PSV9, Q5SSG4, Q5U2M8, Q5VV67, Q63755, Q66H04, Q68DA7, Q69ZL1, Q6DIA7, Q6JPI3, Q6P1D7, Q6PAC4, Q6PG16, Q71F56, Q76N32, Q811R2, Q86YN6, Q86YV5, Q8BJS7

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
ARHGAP31	“down-regulates activity”	RHOA	“gtpase-activating protein”
ARHGAP31	“down-regulates activity”	RAC1	“gtpase-activating protein”
ARHGAP31	“down-regulates activity”	CDC42	“gtpase-activating protein”
GSK3A	“up-regulates activity”	ARHGAP31	phosphorylation
GSK3B	“up-regulates activity”	ARHGAP31	phosphorylation
ERK1/2	“up-regulates activity”	ARHGAP31	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	375
Likely benign	169
Benign	60

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
30857	NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)	Pathogenic
30858	NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)	Pathogenic
523589	NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)	Pathogenic
1172804	NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs)	Likely pathogenic

SpliceAI

2394 predictions. Top by Δscore:

Variant	Effect	Δscore
3:119294987:A:T	donor_gain	1.0000
3:119295000:GGATG:G	donor_gain	1.0000
3:119295001:GATGG:G	donor_gain	1.0000
3:119364764:C:CG	donor_gain	1.0000
3:119365310:A:AG	acceptor_gain	1.0000
3:119365311:C:G	acceptor_gain	1.0000
3:119365311:CATA:C	acceptor_loss	1.0000
3:119365312:A:AG	acceptor_gain	1.0000
3:119365313:T:G	acceptor_gain	1.0000
3:119365313:TA:T	acceptor_loss	1.0000
3:119365314:A:AG	acceptor_gain	1.0000
3:119365314:AGTTC:A	acceptor_loss	1.0000
3:119365315:G:GA	acceptor_gain	1.0000
3:119365315:GT:G	acceptor_gain	1.0000
3:119365315:GTT:G	acceptor_gain	1.0000
3:119365315:GTTC:G	acceptor_gain	1.0000
3:119365315:GTTCC:G	acceptor_gain	1.0000
3:119365416:AAGGT:A	donor_loss	1.0000
3:119365417:AGGTA:A	donor_loss	1.0000
3:119365418:GGTA:G	donor_loss	1.0000
3:119365419:G:GA	donor_loss	1.0000
3:119365419:G:GG	donor_gain	1.0000
3:119365420:T:A	donor_loss	1.0000
3:119380901:CA:C	acceptor_loss	1.0000
3:119380902:A:AG	acceptor_gain	1.0000
3:119380902:A:AT	acceptor_loss	1.0000
3:119380903:G:GG	acceptor_gain	1.0000
3:119380903:GGA:G	acceptor_gain	1.0000
3:119380983:ATAGG:A	donor_loss	1.0000
3:119380984:TAGG:T	donor_loss	1.0000

AlphaMissense

9398 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:119382380:T:A	W174R	1.000
3:119382380:T:C	W174R	1.000
3:119393495:T:A	W304R	1.000
3:119393495:T:C	W304R	1.000
3:119393497:G:C	W304C	1.000
3:119393497:G:T	W304C	1.000
3:119365382:G:C	R56P	0.999
3:119365391:G:A	G59E	0.999
3:119365415:T:C	L67P	0.999
3:119368427:G:C	D87H	0.999
3:119368428:A:C	D87A	0.999
3:119368428:A:T	D87V	0.999
3:119368456:G:C	K96N	0.999
3:119368456:G:T	K96N	0.999
3:119382369:T:C	L170P	0.999
3:119382393:T:C	L178P	0.999
3:119390859:G:C	A253P	0.999
3:119416196:A:C	S1423R	0.999
3:119416198:C:A	S1423R	0.999
3:119416198:C:G	S1423R	0.999
3:119416199:T:C	C1424R	0.999
3:119365336:T:C	C41R	0.998
3:119365338:T:G	C41W	0.998
3:119365373:G:A	G53E	0.998
3:119365390:G:A	G59R	0.998
3:119365390:G:C	G59R	0.998
3:119368438:T:G	C90W	0.998
3:119368458:T:C	L97P	0.998
3:119368473:T:C	L102P	0.998
3:119382306:T:C	L149P	0.998

dbSNP variants (sampled 300 via entrez): RS1000001809 (3:119387422 T>A), RS1000017309 (3:119301200 G>C), RS1000072345 (3:119336942 A>C), RS1000095273 (3:119346489 C>T), RS1000122629 (3:119316555 C>T), RS1000142478 (3:119361334 G>A,C), RS1000146318 (3:119346849 G>A), RS1000173705 (3:119324494 T>C), RS1000180313 (3:119312952 C>T), RS1000197323 (3:119406573 A>T), RS1000198 (3:119394973 A>C,G,T), RS1000199 (3:119394915 G>A), RS1000211477 (3:119405837 A>C,T), RS1000228362 (3:119413218 G>A), RS1000229064 (3:119324788 T>A)

Disease associations

OMIM: gene MIM:610911 | disease phenotypes: MIM:100300

GenCC curated gene-disease

Disease	Classification	Inheritance
Adams-Oliver syndrome 1	Strong	Autosomal dominant
Adams-Oliver syndrome	Supportive	Autosomal dominant

Mondo (4): Adams-Oliver syndrome 1 (MONDO:0024506), cerebral palsy (MONDO:0006497), intellectual disability (MONDO:0001071), Adams-Oliver syndrome (MONDO:0007034)

Orphanet (2): Adams-Oliver syndrome (Orphanet:974), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

75 total (30 of 75 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000565	Esotropia
HP:0000568	Microphthalmia
HP:0000822	Hypertension
HP:0000965	Cutis marmorata
HP:0001057	Aplasia cutis congenita
HP:0001156	Brachydactyly
HP:0001171	Split hand
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001269	Hemiparesis
HP:0001276	Hypertonia
HP:0001290	Generalized hypotonia
HP:0001302	Pachygyria
HP:0001362	Calvarial skull defect
HP:0001394	Cirrhosis
HP:0001409	Portal hypertension
HP:0001508	Failure to thrive
HP:0001541	Ascites
HP:0001596	Alopecia
HP:0001622	Premature birth
HP:0001629	Ventricular septal defect

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001851_13	Schizophrenia	5.000000e-06
GCST005523_16	Celiac disease	1.000000e-08
GCST009131_7	Systemic sclerosis	2.000000e-10
GCST009874_22	Celiac disease	4.000000e-10

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002547	Cerebral Palsy	C10.228.140.140.254
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C538225	Adams Oliver syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression, affects expression, increases reaction	3
sodium arsenite	increases abundance, increases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
Estradiol	increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
jinfukang	decreases expression, affects cotreatment	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Panobinostat	increases reaction, affects expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Lead	increases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Methapyrilene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SD33	HAP1 ARHGAP31 (-) 1	Cancer cell line	Male
CVCL_SD34	HAP1 ARHGAP31 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
NCT01249417	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Study
NCT01251380	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644	PHASE3	COMPLETED	The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608	PHASE3	COMPLETED	Magnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736	PHASE3	UNKNOWN	Targeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520	PHASE3	COMPLETED	A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434	PHASE3	COMPLETED	Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884	PHASE3	COMPLETED	Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy
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
NCT02839785	PHASE3	TERMINATED	Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341	PHASE3	UNKNOWN	Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871	PHASE3	COMPLETED	Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A
NCT03306212	PHASE3	COMPLETED	Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity