PLEKHG4

Summary

PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4, HGNC:24501) is a protein-coding gene on chromosome 16q22.1, encoding Puratrophin-1 (Q58EX7). Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 25894 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 212 total
• Phenotypes (HPO): 12
• MANE Select transcript: NM_001129729

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24501
Approved symbol	PLEKHG4
Name	pleckstrin homology and RhoGEF domain containing G4
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434I216, ARHGEF44
Ensembl gene	ENSG00000196155
Ensembl biotype	protein_coding
OMIM	609526
Entrez	25894

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000360461, ENST00000379344, ENST00000393966, ENST00000427155, ENST00000450733, ENST00000562144, ENST00000562289, ENST00000562744, ENST00000563969, ENST00000565773, ENST00000565899, ENST00000567136, ENST00000567938, ENST00000568621, ENST00000569875, ENST00000869899, ENST00000869900, ENST00000869901, ENST00000934066, ENST00000953477, ENST00000953478, ENST00000953479, ENST00000953480, ENST00000953481

RefSeq mRNA: 4 — MANE Select: NM_001129729 NM_001129727, NM_001129728, NM_001129729, NM_001129731

CCDS: CCDS32466, CCDS45512

Canonical transcript exons

ENST00000379344 — 22 exons

Exon	Start	End
ENSE00001138370	67280711	67280806
ENSE00002583322	67288803	67289480
ENSE00002614201	67279532	67279626
ENSE00002721004	67279876	67280543
ENSE00003459750	67285290	67285536
ENSE00003463653	67281091	67281184
ENSE00003486753	67282201	67282349
ENSE00003497831	67286749	67286919
ENSE00003502929	67287000	67287177
ENSE00003508140	67282009	67282107
ENSE00003515618	67281724	67281837
ENSE00003540681	67286445	67286666
ENSE00003543841	67286274	67286363
ENSE00003546191	67288167	67288400
ENSE00003553214	67287898	67288014
ENSE00003563105	67284275	67284457
ENSE00003574067	67280882	67281005
ENSE00003594040	67281567	67281644
ENSE00003594160	67288489	67288604
ENSE00003602425	67282503	67282641
ENSE00003620023	67282742	67282858
ENSE00003661021	67284713	67285215

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 96.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5246 / max 93.1302, expressed in 1390 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154614	4.5001	1200
154612	0.8987	477
154613	0.1258	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	96.39	gold quality
left testis	UBERON:0004533	95.86	gold quality
testis	UBERON:0000473	93.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.29	gold quality
left ovary	UBERON:0002119	89.67	gold quality
right ovary	UBERON:0002118	88.46	gold quality
cartilage tissue	UBERON:0002418	86.71	gold quality
ovary	UBERON:0000992	86.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.47	gold quality
tibial nerve	UBERON:0001323	84.02	gold quality
epithelium of mammary gland	UBERON:0003244	83.93	gold quality
mammary duct	UBERON:0001765	83.92	gold quality
ventricular zone	UBERON:0003053	83.44	gold quality
skin of leg	UBERON:0001511	82.85	gold quality
skin of abdomen	UBERON:0001416	82.73	gold quality
pancreatic ductal cell	CL:0002079	82.69	silver quality
spleen	UBERON:0002106	82.47	gold quality
lower esophagus mucosa	UBERON:0035834	82.07	gold quality
zone of skin	UBERON:0000014	81.74	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.15	gold quality
tibia	UBERON:0000979	80.81	gold quality
ganglionic eminence	UBERON:0004023	80.81	gold quality
body of pancreas	UBERON:0001150	80.26	gold quality
ectocervix	UBERON:0012249	80.01	gold quality
right adrenal gland cortex	UBERON:0035827	79.60	gold quality
body of uterus	UBERON:0009853	79.49	gold quality
minor salivary gland	UBERON:0001830	79.22	gold quality
stromal cell of endometrium	CL:0002255	79.00	gold quality
mammary gland	UBERON:0001911	78.89	gold quality
gall bladder	UBERON:0002110	78.85	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	150.63
E-MTAB-6058	no	86.23
E-ANND-3	no	2.80

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 13)

• Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512. (PMID:12796826)
• the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III. (PMID:15455264)
• puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus (PMID:16001362)
• Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (PMID:16491300)
• We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA. (PMID:16780885)
• among 686 autosomal dominant spinocerebellar ataxia families in our cohort, 57 families were identified to have 65 affected individuals, who carried the C-to-T substitution of the puratrophin-1 gene (PMID:17357132)
• Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1. (PMID:17611710)
• Rac1 activation specifically in membrane ruffles by the guanine-nucleotide-exchange factor FLJ00068 is sufficient for insulin induction of glucose uptake into skeletal-muscle cells. (PMID:18482007)
• The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China. (PMID:19065522)
• (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31 (PMID:20424877)
• This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1. (PMID:21357611)
• Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. (PMID:25025572)
• Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer. (PMID:37336836)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekhg4	ENSDARG00000075964
mus_musculus	Plekhg4	ENSMUSG00000014782
rattus_norvegicus	Plekhg4	ENSRNOG00000016479

Paralogs (22): TRIO (ENSG00000038382), MCF2L2 (ENSG00000053524), PLEKHG2 (ENSG00000090924), MCF2 (ENSG00000101977), ARHGEF7 (ENSG00000102606), PLEKHG1 (ENSG00000120278), MCF2L (ENSG00000126217), ARHGEF6 (ENSG00000129675), ARHGEF9 (ENSG00000131089), VAV3 (ENSG00000134215), VAV1 (ENSG00000141968), TIAM2 (ENSG00000146426), KIAA1755 (ENSG00000149633), PLEKHG4B (ENSG00000153404), TIAM1 (ENSG00000156299), KALRN (ENSG00000160145), VAV2 (ENSG00000160293), ARHGEF40 (ENSG00000165801), SPATA13 (ENSG00000182957), SESTD1 (ENSG00000187231), PLEKHN1 (ENSG00000187583), ARHGEF25 (ENSG00000240771)

Protein

Protein identifiers

Puratrophin-1 — Q58EX7 (reviewed: Q58EX7)

Alternative names: Pleckstrin homology domain-containing family G member 4, Purkinje cell atrophy-associated protein 1

All UniProt accessions (10): Q58EX7, A0A024R6X4, H3BME5, H3BPA8, H3BPQ5, H3BQ60, H3BQE6, H3BQP9, H3BSU4, J3QSC9

UniProt curated annotations — full annotation on UniProt →

Function. Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

Tissue specificity. Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.

Isoforms (3)

UniProt ID	Names	Canonical?
Q58EX7-1	1	yes
Q58EX7-2	2
Q58EX7-3	3, short

RefSeq proteins (4): NP_001123199, NP_001123200, NP_001123201, NP_001123203 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily
IPR052231	Rho_GEF_signaling-related	Family
IPR055251	SOS1_NGEF_PH	Domain

Pfam: PF00621, PF22697

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q58EX7-F1	69.68	0.34

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 (1): 64

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

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

MSigDB gene sets: 101 (showing top): chr16q22, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_CELL_PROJECTION_ORGANIZATION, CERVERA_SDHB_TARGETS_1_UP, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, NAKAMURA_METASTASIS, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, MEISSNER_NPC_ICP_WITH_H3_UNMETHYLATED, MIKKELSEN_ES_ICP_WITH_H3K27ME3, CHICAS_RB1_TARGETS_CONFLUENT

GO Biological Process (2): axon guidance (GO:0007411), regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), extrinsic component of membrane (GO:0019898)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	3

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
membrane	2
axonogenesis	1
neuron projection guidance	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cell periphery	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHG4	SPTBN2	O15020	878
PLEKHG4	BEAN1	Q3B7T3	788
PLEKHG4	ATXN1	P54253	748
PLEKHG4	ATXN7	O15265	745
PLEKHG4	ATXN10	Q9UBB4	663
PLEKHG4	VCL	P18206	633
PLEKHG4	COIL	P38432	617
PLEKHG4	CACNA1A	P78510	605
PLEKHG4	KCTD19	Q17RG1	585
PLEKHG4	ATXN2	Q99700	581
PLEKHG4	ATXN3	P54252	555
PLEKHG4	UBQLN4	Q9NRR5	549
PLEKHG4	HSPA13	P48723	547
PLEKHG4	SRSF9	Q13242	537
PLEKHG4	CIC	Q96RK0	535

IntAct

242 interactions, top by confidence:

A	B	Type	Score
PLEKHG4	MDFI	psi-mi:“MI:0915”(physical association)	0.560
MDFI	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
KRT3	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	ZNF319	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	MALSU1	psi-mi:“MI:0915”(physical association)	0.560
CDKN2C	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	DUSP13B	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	ARMC7	psi-mi:“MI:0915”(physical association)	0.560
HOXC8	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
ARHGEF5	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
MATR3	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	BEX2	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	SHISA6	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	CHIC2	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	FAM161A	psi-mi:“MI:0915”(physical association)	0.560
DCUN1D5	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	ZNF148	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
GCM2	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	TBC1D22B	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	MSRB3	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	PRPF18	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	DTX2	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	MGC50722	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	TENT5D	psi-mi:“MI:0915”(physical association)	0.560
GSTZ1	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
SMCP	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (172): PLEKHG4 (Two-hybrid), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS), PLEKHG4 (Affinity Capture-MS)

ESM2 similar proteins: A1IGU3, A1IGU4, A1IGU5, A6QP29, B1AVH7, B2RUP2, B5DFA1, D2H0G5, D3ZFJ3, O15068, O55043, P00530, P07332, P14238, P16879, P55194, P98171, Q0GNC1, Q14155, Q15052, Q27J81, Q3U5C8, Q3UMR0, Q58EX7, Q5VV41, Q5XXR3, Q5ZLR6, Q60I26, Q63406, Q64096, Q6PFY1, Q6PGG2, Q70J99, Q7TNH6, Q80TT2, Q80VK6, Q86WN1, Q8C2K1, Q8C6B2, Q8CJ00

Diamond homologs: A1L390, F1M0Z1, O43307, O75962, P91620, P91621, Q0KL02, Q13009, Q1ZXH8, Q3UTH8, Q4VAC9, Q58DL7, Q58EX7, Q5DU57, Q5RDK0, Q60610, Q6KAU7, Q6P720, Q6ZPF3, Q7TNR9, Q96N96, Q9H7P9, Q9NR80, Q9QX73, Q9ULL1, A2ASS6, A2CG49, A4IFM7, A8C984, A8WXF6, E9PT87, G4SLH0, O02827, O08875, O43293, O44997, O54784, O60229, O62305, O70150

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PLEKHG4	“up-regulates activity”	CDC42	“guanine nucleotide exchange factor”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	171
Likely benign	16
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

3147 predictions. Top by Δscore:

Variant	Effect	Δscore
16:67280993:G:GT	donor_gain	1.0000
16:67281720:GTA:G	acceptor_loss	1.0000
16:67281722:A:AG	acceptor_gain	1.0000
16:67281722:A:AT	acceptor_loss	1.0000
16:67281722:AGCT:A	acceptor_gain	1.0000
16:67281723:G:GA	acceptor_gain	1.0000
16:67281723:GCT:G	acceptor_gain	1.0000
16:67281723:GCTG:G	acceptor_gain	1.0000
16:67282105:GGG:G	donor_gain	1.0000
16:67282106:GGG:G	donor_gain	1.0000
16:67282625:A:T	donor_gain	1.0000
16:67282729:T:A	acceptor_gain	1.0000
16:67282731:T:TA	acceptor_gain	1.0000
16:67282737:TCCA:T	acceptor_loss	1.0000
16:67282740:A:AG	acceptor_gain	1.0000
16:67282740:A:AT	acceptor_loss	1.0000
16:67282741:G:GG	acceptor_gain	1.0000
16:67282741:G:GT	acceptor_loss	1.0000
16:67282741:GATT:G	acceptor_gain	1.0000
16:67282857:AGGTA:A	donor_loss	1.0000
16:67284455:G:T	donor_gain	1.0000
16:67285532:GCCAT:G	donor_gain	1.0000
16:67285537:G:GG	donor_gain	1.0000
16:67286272:A:AG	acceptor_gain	1.0000
16:67286272:AGAG:A	acceptor_gain	1.0000
16:67286273:G:GC	acceptor_gain	1.0000
16:67286273:GA:G	acceptor_gain	1.0000
16:67286273:GAGG:G	acceptor_gain	1.0000
16:67286360:CAAGG:C	donor_loss	1.0000
16:67286361:AAGG:A	donor_loss	1.0000

AlphaMissense

7656 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:67285456:T:C	F788L	0.998
16:67285458:C:A	F788L	0.998
16:67285458:C:G	F788L	0.998
16:67287126:T:A	W1018R	0.998
16:67287126:T:C	W1018R	0.998
16:67285457:T:C	F788S	0.997
16:67285526:T:C	F811S	0.997
16:67286315:G:C	K828N	0.996
16:67286315:G:T	K828N	0.996
16:67286834:T:C	F947S	0.996
16:67286860:A:C	S956R	0.996
16:67286862:C:A	S956R	0.996
16:67286862:C:G	S956R	0.996
16:67287119:G:C	K1015N	0.996
16:67287119:G:T	K1015N	0.996
16:67287128:G:C	W1018C	0.996
16:67287128:G:T	W1018C	0.996
16:67285325:A:T	E744V	0.995
16:67285459:C:G	H789D	0.995
16:67285472:T:C	F793S	0.995
16:67286833:T:C	F947L	0.995
16:67286835:C:A	F947L	0.995
16:67286835:C:G	F947L	0.995
16:67286858:T:C	F955S	0.994
16:67285525:T:C	F811L	0.993
16:67285527:C:A	F811L	0.993
16:67285527:C:G	F811L	0.993
16:67286491:T:C	L860P	0.993
16:67286509:G:C	R866P	0.993
16:67286780:G:C	R929P	0.993

dbSNP variants (sampled 300 via entrez): RS1000129864 (16:67289884 C>T), RS1000477875 (16:67283942 G>A,C), RS1001267777 (16:67278003 G>A), RS1001605269 (16:67282408 T>C), RS1002565151 (16:67285709 C>T), RS1003087098 (16:67286727 C>T), RS1003328339 (16:67285644 A>T), RS1003582450 (16:67279360 G>T), RS1003613857 (16:67279513 G>C,T), RS1003749896 (16:67279300 C>T), RS1004309310 (16:67286357 C>G,T), RS1004479888 (16:67289077 G>T), RS1005053013 (16:67276920 T>G), RS1005430111 (16:67276616 G>A), RS1005724261 (16:67279690 G>A,T)

Disease associations

OMIM: gene MIM:609526 | disease phenotypes: MIM:117210

GenCC curated gene-disease

Mondo (1): spinocerebellar ataxia type 31 (MONDO:0007296)

Orphanet (1): Spinocerebellar ataxia type 31 (Orphanet:217012)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0002333	Motor deterioration
HP:0002495	Impaired vibratory sensation
HP:0003390	Sensory axonal neuropathy
HP:0003438	Absent Achilles reflex
HP:0007002	Motor axonal neuropathy
HP:0009830	Peripheral neuropathy
HP:0010830	Impaired tactile sensation
HP:0010831	Impaired proprioception

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST006288_175	Heel bone mineral density	5.000000e-08
GCST006288_277	Heel bone mineral density	7.000000e-20
GCST006288_345	Heel bone mineral density	1.000000e-11
GCST010002_113	Refractive error	2.000000e-14
GCST011348_42	High density lipoprotein cholesterol levels	5.000000e-40
GCST012231_137	A body shape index	3.000000e-08
GCST90020029_571	Waist circumference adjusted for body mass index	7.000000e-11
GCST90020029_572	Waist circumference adjusted for body mass index	1.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566146	Spinocerebellar Ataxia 31 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects expression, affects cotreatment, increases expression	3
sodium arsenite	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation, affects methylation	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, increases methylation	2
Aflatoxin B1	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
TAK-243	increases sumoylation	1
methyleugenol	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	decreases expression	1
coumarin	increases phosphorylation	1
muconaldehyde	decreases expression	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_E4VR	KOLF2.1J PLEKHG4 8.8kbdel DEL/DEL	Induced pluripotent stem cell	Male
CVCL_E7LW	KOLF2.1J PLEKHG4 c16 SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E7LX	KOLF2.1J PLEKHG4 c16 SNV/WT	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford