ARHGAP18

Summary

ARHGAP18 (Rho GTPase activating protein 18, HGNC:21035) is a protein-coding gene on chromosome 6q22.33, encoding Rho GTPase-activating protein 18 (Q8N392). Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho.

Enables GTPase activator activity. Involved in several processes, including regulation of actin filament polymerization; regulation of small GTPase mediated signal transduction; and small GTPase-mediated signal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia.

Source: NCBI Gene 93663 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 127 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_033515

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21035
Approved symbol	ARHGAP18
Name	Rho GTPase activating protein 18
Location	6q22.33
Locus type	gene with protein product
Status	Approved
Aliases	MacGAP, bA307O14.2, SENEX
Ensembl gene	ENSG00000146376
Ensembl biotype	protein_coding
OMIM	613351
Entrez	93663

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000368149, ENST00000463225, ENST00000483367, ENST00000909755, ENST00000938085

RefSeq mRNA: 1 — MANE Select: NM_033515 NM_033515

CCDS: CCDS34535

Canonical transcript exons

ENST00000368149 — 15 exons

Exon	Start	End
ENSE00000975574	129638394	129638629
ENSE00000975575	129634042	129634105
ENSE00000975576	129629353	129629522
ENSE00000975577	129618687	129618852
ENSE00000975578	129616212	129616303
ENSE00000975579	129611533	129611610
ENSE00000975580	129607893	129608052
ENSE00000975581	129605877	129605959
ENSE00000975582	129600642	129600848
ENSE00000975583	129599216	129599356
ENSE00001244184	129710024	129710177
ENSE00001446424	129576132	129578604
ENSE00003428931	129641816	129642018
ENSE00003557158	129580070	129580131
ENSE00003662081	129583988	129584112

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 99.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.0609 / max 724.7140, expressed in 1763 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75505	27.4968	1742
75506	6.0512	1489
204202	0.4520	215
75507	0.0609	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.29	gold quality
oviduct epithelium	UBERON:0004804	99.14	gold quality
bronchial epithelial cell	CL:0002328	99.05	gold quality
oocyte	CL:0000023	98.95	gold quality
secondary oocyte	CL:0000655	98.78	gold quality
bronchus	UBERON:0002185	98.71	gold quality
parietal pleura	UBERON:0002400	97.70	gold quality
kidney epithelium	UBERON:0004819	97.31	gold quality
visceral pleura	UBERON:0002401	97.26	gold quality
epithelial cell of pancreas	CL:0000083	97.17	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.02	gold quality
adrenal tissue	UBERON:0018303	96.99	gold quality
renal medulla	UBERON:0000362	96.03	gold quality
jejunal mucosa	UBERON:0000399	95.59	gold quality
nasal cavity epithelium	UBERON:0005384	95.42	gold quality
epithelium of nasopharynx	UBERON:0001951	95.08	gold quality
ileal mucosa	UBERON:0000331	94.96	gold quality
pylorus	UBERON:0001166	94.73	gold quality
pigmented layer of retina	UBERON:0001782	94.71	gold quality
amniotic fluid	UBERON:0000173	94.55	gold quality
caput epididymis	UBERON:0004358	94.43	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.21	gold quality
lower lobe of lung	UBERON:0008949	94.06	gold quality
pericardium	UBERON:0002407	93.90	gold quality
cardia of stomach	UBERON:0001162	93.73	gold quality
layer of synovial tissue	UBERON:0007616	93.35	gold quality
corpus epididymis	UBERON:0004359	93.06	gold quality
duodenum	UBERON:0002114	92.79	gold quality
synovial joint	UBERON:0002217	92.50	gold quality
nasal cavity mucosa	UBERON:0001826	92.47	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-MTAB-10855	yes	380.50
E-CURD-119	yes	47.49
E-MTAB-6678	yes	42.82
E-CURD-112	yes	37.23
E-CURD-88	yes	27.92
E-CURD-122	yes	21.21
E-MTAB-5061	yes	18.88
E-HCAD-10	yes	16.12
E-CURD-114	yes	11.54
E-MTAB-9801	yes	7.95
E-GEOD-81608	yes	4.63
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

83 targeting ARHGAP18, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-2113	99.58	71.22	1521

Literature-anchored findings (GeneRIF, showing 15)

• This study use Functional MRI and Genome Wide Association Analysis indentic novel gene(ARHGAP18) associated with schizophrenia. (PMID:19065146)
• identification of a novel gene, SENEX, that regulates stress induced premature senescence pathways in endothelial cells involving p16(INK4a) and retinoblastoma protein activation (PMID:20664062)
• The results define ARHGAP18 as one of the crucial factors for the regulation of RhoA for the control of cell shape, spreading, and migration. (PMID:21865595)
• Results describe ARHGAP18 as a novel negative regulator of sprouting by acting dualistically to limit tip cell formation and to maintain junctional integrity. (PMID:25425145)
• Our results show that miR-181a is down-regulated in glioblastoma multiforme (GBM) patients. The three target genes, ANGPT2, ARHGAP18 and LAMC1, are negatively correlated with the expression of miR-181a. Moreover, high expression of ANGPT2 or LAMC1 together with large size of GBM is correlated with a shorter median overall survival (PMID:27176932)
• In endothelial cells, ARHGAP18 may act as a significant regulator of vascular homeostasis. (PMID:28251925)
• data suggest the ARHGAP18 may confer vulnerability to SZ in the Chinese Han population, providing additional evidence for the involvement of neurodevelopmental dysfunction in the pathogenesis of schizophrenia (PMID:28384650)
• these results define opposing roles for oncogenic ARHGAP18 and tumor suppressive miR-200b in determining triple-negative breast cancer cell migration and metastatic prowess (PMID:28619708)
• GnRHR triggers intracellular signaling pathways that acts through ARHGAP18. (PMID:28709956)
• Our data suggest that ARHGAP18, which was located by the SNP rs11759328 via positive selection, plays a potential role in regulating HbF expression in beta-thalassaemia and may be a promising therapeutic target (PMID:28983712)
• This study revealed that lncRNA CDKN2BAS promotes HCC metastasis by regulating the miR-153-5p/ARHGAP18 signaling. (PMID:30510148)
• novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders. (PMID:31776727)
• YAP and the RhoC regulator ARHGAP18, are required to mediate flow-dependent endothelial cell alignment. (PMID:32013974)
• A Screen for PKN3 Substrates Reveals an Activating Phosphorylation of ARHGAP18. (PMID:33092266)
• ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma. (PMID:37171759)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap18	ENSDARG00000074740
mus_musculus	Arhgap18	ENSMUSG00000039031
rattus_norvegicus	Arhgap18	ENSRNOG00000011245
drosophila_melanogaster	conu	FBGN0039994

Paralogs (3): ARHGAP28 (ENSG00000088756), ARHGAP40 (ENSG00000124143), ARHGAP19 (ENSG00000213390)

Protein

Protein identifiers

Rho GTPase-activating protein 18 — Q8N392 (reviewed: Q8N392)

Alternative names: MacGAP, Rho-type GTPase-activating protein 18

All UniProt accessions (1): Q8N392

UniProt curated annotations — full annotation on UniProt →

Function. Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state. Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1. Regulates cell shape, spreading, and migration.

Subunit / interactions. Interacts with MPHOSPH6.

Subcellular location. Cytoplasm.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N392-1	1	yes
Q8N392-2	2

RefSeq proteins (1): NP_277050* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR057323	RHG40/28/18_ubiquitin	Domain

Pfam: PF00620, PF25442

UniProt features (20 total): modified residue 5, sequence variant 3, region of interest 3, sequence conflict 2, compositionally biased region 2, chain 1, domain 1, splice variant 1, mutagenesis site 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N392-F1	75.05	0.47

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): 365 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (5): 158, 263, 610, 66, 69

Mutagenesis-validated functional residues (1):

Position	Phenotype
365	abolishes gtpase activation activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013106	RHOC GTPase cycle

MSigDB gene sets: 265 (showing top): HORIUCHI_WTAP_TARGETS_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, ZHAN_MULTIPLE_MYELOMA_PR_DN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TGACCTY_ERR1_Q2, GOCC_RUFFLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, ARGGGTTAA_UNKNOWN

GO Biological Process (7): small GTPase-mediated signal transduction (GO:0007264), regulation of cell shape (GO:0008360), regulation of actin filament polymerization (GO:0030833), regulation of actin cytoskeleton organization (GO:0032956), regulation of small GTPase mediated signal transduction (GO:0051056), regulation of cell motility (GO:2000145), signal transduction (GO:0007165)

GO Molecular Function (2): GTPase activator activity (GO:0005096), cadherin binding (GO:0045296)

GO Cellular Component (6): ruffle (GO:0001726), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic microtubule (GO:0005881), plasma membrane (GO:0005886), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cellular process	2
cellular anatomical structure	2
cytoplasm	2
intracellular signaling cassette	1
regulation of cell morphogenesis	1
regulation of biological quality	1
regulation of actin polymerization or depolymerization	1
actin filament polymerization	1
regulation of protein polymerization	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
regulation of locomotion	1
cell motility	1
cell communication	1
cellular process	1
signaling	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
cell adhesion molecule binding	1
cell leading edge	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1
microtubule	1
membrane	1
cell periphery	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

971 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP18	RHOA	P06749	460
ARHGAP18	ARHGEF17	Q96PE2	452
ARHGAP18	MSN	P26038	430
ARHGAP18	ISM1	B1AKI9	396
ARHGAP18	RHOC	P08134	386
ARHGAP18	DENND2D	Q9H6A0	375
ARHGAP18	FKBPL	Q9UIM3	358
ARHGAP18	RSRC1	Q96IZ7	351
ARHGAP18	CDC42	P21181	341
ARHGAP18	ARHGEF2	Q92974	307
ARHGAP18	MOSPD2	Q8NHP6	305
ARHGAP18	MMRN2	Q9H8L6	303
ARHGAP18	PRR30	Q53SZ7	302
ARHGAP18	ARHGAP1	Q07960	294
ARHGAP18	FNDC11	Q9BVV2	287

IntAct

28 interactions, top by confidence:

A	B	Type	Score
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
STK4	EIF3CL	psi-mi:“MI:0914”(association)	0.350
FGD2	TCERG1	psi-mi:“MI:0914”(association)	0.350
PLEKHG4B	ARHGEF11	psi-mi:“MI:0914”(association)	0.350
PREX2	NT5C2	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
ARHGAP18	CLTB	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	RPS3A	psi-mi:“MI:0914”(association)	0.350
JAK2	BACH1	psi-mi:“MI:0914”(association)	0.350
MRPL42	UBA6	psi-mi:“MI:0914”(association)	0.350
BBS1	SHTN1	psi-mi:“MI:0914”(association)	0.350
DOK4	SHTN1	psi-mi:“MI:0914”(association)	0.350
ANKRD49	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
MND1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
SMAD4	SBNO1	psi-mi:“MI:0914”(association)	0.350
ZNF444	SBNO1	psi-mi:“MI:0914”(association)	0.350
RABGGTA	PALM3	psi-mi:“MI:0914”(association)	0.350
ANAPC16	METTL15	psi-mi:“MI:0914”(association)	0.350
KDM4B	AP3B1	psi-mi:“MI:0914”(association)	0.350
RYBP	STK25	psi-mi:“MI:0914”(association)	0.350
DNAJB6	SCAMP1	psi-mi:“MI:0914”(association)	0.350
SPRTN	ROCK2	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
ARHGAP18		psi-mi:“MI:0915”(physical association)	0.000
MPHOSPH6	ARHGAP18	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (114): ARHGAP18 (Proximity Label-MS), ARHGAP18 (Proximity Label-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-Western), ARHGAP18 (Affinity Capture-Western), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Two-hybrid), ARHGAP18 (Proximity Label-MS), ARHGAP18 (Proximity Label-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS), ARHGAP18 (Affinity Capture-MS)

ESM2 similar proteins: A0JPF9, A1A5Q7, A2RT67, A2RUS2, A4D126, A5PKL6, A6NCI4, A6QPR9, D4ACE5, E9PYK3, F1ND48, Q05AA6, Q09M05, Q13474, Q15061, Q32PJ3, Q3TTL0, Q3UMR0, Q3UVV9, Q3UY96, Q498D5, Q49MI3, Q4R6Y8, Q4U2V3, Q502W6, Q5F204, Q5JPI3, Q5M8J0, Q5REW9, Q5RL51, Q5XIJ6, Q6DJG6, Q6RI63, Q7TNH6, Q7TPQ3, Q80V94, Q8BSE0, Q8CEL2, Q8IZC4, Q8N392

Diamond homologs: A1A4S6, A6NI28, A6X8Z5, A7E300, B2RQE8, B5DFQ4, B9VTT2, D3ZFJ3, D3ZZN9, E9Q6X9, F1LQX4, O43182, O60890, P0CAX5, P15882, P30337, P55194, P81128, P83509, P98171, Q07960, Q08DP6, Q13459, Q14CB8, Q17QN0, Q17R89, Q2M1Z3, Q3KRB8, Q54FF4, Q54PG5, Q54TH9, Q54VW7, Q553X3, Q559A0, Q5FWK3, Q5SSM3, Q5TG30, Q5U4T3, Q62172, Q63358

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PKN3	“up-regulates activity”	ARHGAP18	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	98
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1712295	Single allele	Pathogenic
2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	Pathogenic
3391831	GRCh37/hg19 6q22.31-23.2(chr6:120290547-131239690)x1	Likely pathogenic

SpliceAI

3654 predictions. Top by Δscore:

Variant	Effect	Δscore
6:129580064:GCTT:G	donor_loss	1.0000
6:129580065:CTTAC:C	donor_loss	1.0000
6:129580066:TTA:T	donor_loss	1.0000
6:129580067:TACCA:T	donor_loss	1.0000
6:129580068:A:AC	donor_gain	1.0000
6:129580069:C:CC	donor_gain	1.0000
6:129580127:CCCCA:C	acceptor_gain	1.0000
6:129580128:CCCA:C	acceptor_gain	1.0000
6:129580128:CCCAC:C	acceptor_gain	1.0000
6:129580129:CCA:C	acceptor_gain	1.0000
6:129580129:CCAC:C	acceptor_gain	1.0000
6:129580130:CA:C	acceptor_gain	1.0000
6:129580130:CACTA:C	acceptor_gain	1.0000
6:129580131:AC:A	acceptor_loss	1.0000
6:129580132:C:CC	acceptor_gain	1.0000
6:129580132:C:T	acceptor_loss	1.0000
6:129580133:T:C	acceptor_loss	1.0000
6:129580134:A:C	acceptor_gain	1.0000
6:129599197:ATCT:A	donor_gain	1.0000
6:129599198:T:C	donor_gain	1.0000
6:129599214:A:AC	donor_gain	1.0000
6:129599214:ACAT:A	donor_gain	1.0000
6:129599215:C:CC	donor_gain	1.0000
6:129599215:CAT:C	donor_gain	1.0000
6:129599215:CATC:C	donor_gain	1.0000
6:129599215:CATCA:C	donor_gain	1.0000
6:129599232:T:C	donor_gain	1.0000
6:129599355:AT:A	acceptor_gain	1.0000
6:129599356:TCT:T	acceptor_loss	1.0000
6:129599357:C:CC	acceptor_gain	1.0000

AlphaMissense

4386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:129578539:A:G	W656R	0.999
6:129578539:A:T	W656R	0.999
6:129638494:C:G	R151P	0.997
6:129638503:A:T	V148D	0.997
6:129638609:A:G	W113R	0.997
6:129638609:A:T	W113R	0.997
6:129599327:C:A	R534S	0.996
6:129599327:C:G	R534S	0.996
6:129638605:A:G	L114P	0.996
6:129578537:C:A	W656C	0.995
6:129578537:C:G	W656C	0.995
6:129578538:C:G	W656S	0.995
6:129584084:A:T	V581E	0.995
6:129638607:C:A	W113C	0.995
6:129638607:C:G	W113C	0.995
6:129578598:C:G	R636P	0.994
6:129599328:C:G	R534T	0.994
6:129638605:A:T	L114H	0.994
6:129638434:A:T	V171D	0.993
6:129618755:A:G	L295P	0.992
6:129638507:C:G	A147P	0.992
6:129584002:A:C	F608L	0.991
6:129584002:A:T	F608L	0.991
6:129584004:A:G	F608L	0.991
6:129600796:A:G	M473T	0.991
6:129638527:A:G	L140S	0.991
6:129584090:A:T	I579N	0.990
6:129605920:A:G	L441P	0.990
6:129607952:C:G	R408P	0.990
6:129578592:A:T	L638H	0.989

dbSNP variants (sampled 300 via entrez): RS1000010026 (6:129600040 C>T), RS1000036464 (6:129656944 G>A), RS1000061052 (6:129592504 C>A), RS1000084878 (6:129593041 A>G), RS1000091791 (6:129592925 T>C), RS1000150898 (6:129677562 T>A), RS1000188715 (6:129616658 C>G), RS1000191750 (6:129644238 G>A), RS1000220847 (6:129700672 G>A), RS1000246968 (6:129614184 T>G), RS1000262889 (6:129650557 T>C), RS1000273311 (6:129701032 C>A,T), RS1000274135 (6:129659100 C>A), RS1000288545 (6:129680610 TA>T), RS1000344988 (6:129662720 C>A,T)

Disease associations

OMIM: gene MIM:613351 | disease phenotypes: MIM:618138, MIM:617831

GenCC curated gene-disease

Mondo (2): muscular dystrophy, limb-girdle, autosomal recessive 23 (MONDO:0029136), intellectual disability, autosomal dominant 55, with seizures (MONDO:0030921)

Orphanet (1): Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 (Orphanet:565837)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001613_12	Antineutrophil cytoplasmic antibody-associated vasculitis	6.000000e-07
GCST001995_1	Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)	4.000000e-06
GCST002115_10	Axial length	1.000000e-08
GCST002312_6	Periodontal disease-related phenotype (Socransky)	2.000000e-06
GCST002386_22	Cognitive function	5.000000e-06
GCST003542_127	Night sleep phenotypes	6.000000e-06
GCST006979_387	Heel bone mineral density	2.000000e-10
GCST009391_1219	Metabolite levels	3.000000e-07
GCST012489_106	Heel bone mineral density x serum urate levels interaction	2.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0003925	cognition
EFO:0009270	heel bone mineral density
EFO:0010421	triacylglycerol 54:3 measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	9
Benzo(a)pyrene	decreases expression	5
bisphenol A	affects expression, affects methylation, affects cotreatment, decreases methylation, decreases expression (+1 more)	4
sodium arsenite	increases abundance, increases expression, decreases expression	4
trichostatin A	affects cotreatment, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
mercuric bromide	affects cotreatment, increases expression	2
Vorinostat	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Estradiol	decreases expression, affects binding, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
Tretinoin	decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
nickel sulfate	increases expression	1
coumarin	affects phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression, affects response to substance, increases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects 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, increases expression	1

Clinical trials (associated diseases)

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