PLXNA4

Summary

PLXNA4 (plexin A4, HGNC:9102) is a protein-coding gene on chromosome 7q32.3, encoding Plexin-A4 (Q9HCM2). Coreceptor for SEMA3A.

Predicted to enable semaphorin receptor activity. Predicted to be involved in nervous system development; regulation of cell migration; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within nervous system development; regulation of axon extension involved in axon guidance; and regulation of negative chemotaxis. Predicted to be located in membrane. Predicted to be part of semaphorin receptor complex. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and plasma membrane.

Source: NCBI Gene 91584 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 686 total
• MANE Select transcript: NM_020911

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9102
Approved symbol	PLXNA4
Name	plexin A4
Location	7q32.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1550, DKFZp434G0625PRO34003, FAYV2820
Ensembl gene	ENSG00000221866
Ensembl biotype	protein_coding
OMIM	604280
Entrez	91584

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000321063, ENST00000359827, ENST00000378539, ENST00000423507, ENST00000496550, ENST00000948949

RefSeq mRNA: 4 — MANE Select: NM_020911 NM_001105543, NM_001393897, NM_020911, NM_181775

CCDS: CCDS43646, CCDS43647, CCDS5826

Canonical transcript exons

ENST00000321063 — 32 exons

Exon	Start	End
ENSE00001262081	132507506	132508779
ENSE00001567089	132180586	132180732
ENSE00001567220	132241066	132241166
ENSE00001568624	132227451	132227604
ENSE00001568871	132148543	132148646
ENSE00001569041	132181381	132181620
ENSE00001570060	132210943	132211143
ENSE00001570417	132179687	132179921
ENSE00001571265	132182097	132182190
ENSE00001571354	132185299	132185463
ENSE00001571905	132198485	132198636
ENSE00001572558	132202646	132202836
ENSE00001573104	132194062	132194179
ENSE00001574389	132187471	132187607
ENSE00001574736	132228346	132228469
ENSE00001575042	132298091	132298222
ENSE00001575629	132159473	132159632
ENSE00001575679	132203323	132203419
ENSE00001576061	132226161	132226260
ENSE00001577053	132489292	132489474
ENSE00001578742	132146510	132146700
ENSE00001585299	132147900	132147999
ENSE00001588957	132133049	132133199
ENSE00001625660	132123340	132130574
ENSE00001802326	132164142	132164288
ENSE00001814261	132576422	132576470
ENSE00002328547	132168304	132168572
ENSE00002342828	132140599	132140811
ENSE00002351275	132174778	132174920
ENSE00002353976	132165134	132165200
ENSE00002363925	132145119	132145288
ENSE00002384126	132223527	132223641

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 93.79.

FANTOM5 (CAGE): breadth broad, TPM avg 5.5289 / max 280.6334, expressed in 836 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86291	4.8025	814
86287	0.3185	101
86288	0.1838	80
86289	0.0851	38
86283	0.0765	20
86290	0.0625	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	93.79	gold quality
oocyte	CL:0000023	92.80	gold quality
cortical plate	UBERON:0005343	91.40	gold quality
ganglionic eminence	UBERON:0004023	87.94	gold quality
pons	UBERON:0000988	87.07	gold quality
decidua	UBERON:0002450	87.00	gold quality
Brodmann (1909) area 23	UBERON:0013554	86.45	gold quality
postcentral gyrus	UBERON:0002581	85.61	gold quality
left ventricle myocardium	UBERON:0006566	85.51	gold quality
parietal lobe	UBERON:0001872	85.26	gold quality
middle temporal gyrus	UBERON:0002771	83.82	gold quality
superior frontal gyrus	UBERON:0002661	83.58	gold quality
entorhinal cortex	UBERON:0002728	82.59	gold quality
adipose tissue	UBERON:0001013	82.27	gold quality
occipital lobe	UBERON:0002021	82.22	gold quality
primary visual cortex	UBERON:0002436	81.87	gold quality
secondary oocyte	CL:0000655	81.13	gold quality
medial globus pallidus	UBERON:0002477	81.02	gold quality
superior vestibular nucleus	UBERON:0007227	80.92	gold quality
lateral nuclear group of thalamus	UBERON:0002736	80.72	gold quality
pericardium	UBERON:0002407	80.61	gold quality
globus pallidus	UBERON:0001875	80.09	gold quality
saphenous vein	UBERON:0007318	79.88	gold quality
adipose tissue of abdominal region	UBERON:0007808	79.88	gold quality
medulla oblongata	UBERON:0001896	79.78	gold quality
substantia nigra pars compacta	UBERON:0001965	79.63	gold quality
subcutaneous adipose tissue	UBERON:0002190	79.51	gold quality
omental fat pad	UBERON:0010414	79.18	gold quality
peritoneum	UBERON:0002358	79.15	gold quality
kidney epithelium	UBERON:0004819	79.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	999.62
E-MTAB-8498	yes	356.81
E-ANND-3	yes	5.39

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 10)

• Plexin-A4 promotes tumor progression and tumor angiogenesis by enhancement of VEGF and bFGF signaling. (PMID:21832283)
• Rare variants in PLXNA4 and Parkinson’s disease. (PMID:24244438)
• There is a significant association between Alzheimer’s disease risk and SNPs in PLXNA4. (PMID:25043464)
• Data indicate that plexin A1-4 (PLXNA1-4) mediation of neuroanatomical traits can be detected using in vivo neuroimaging techniques. (PMID:25518740)
• Both CLU and PLXNA4 have been genetically associated with Alzheimer disease (AD) risk and our data thus provide a direct relationship between two AD risk genes. Our data suggest that increasing the levels of PLXNA4 or targeting CLU-PLXNA4 interactions may have therapeutic value in AD. (PMID:27378688)
• In the absence of neuropilins, plexin-A4 formed complexes with plexin-D1, and was required in addition to plexin-D1 to enable Sema3C-induced signal transduction. (PMID:29661844)
• B7-H4Ig binds to Sema3a, which acts as a functional bridge to stimulate an Nrp-1/Plexin A4 heterodimer. (PMID:29898965)
• A Genome-wide Association Study for Concussion Risk. (PMID:33017352)
• An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism. (PMID:34234248)
• Induction of PLXNA4 Gene during Neural Differentiation in Human Umbilical-Cord-Derived Mesenchymal Stem Cells by Low-Intensity Sub-Sonic Vibration. (PMID:35163445)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	plxna4	ENSDARG00000019328
mus_musculus	Plxna4	ENSMUSG00000029765
rattus_norvegicus	Plxna4	ENSRNOG00000013072

Paralogs (8): PLXND1 (ENSG00000004399), PLXNA2 (ENSG00000076356), PLXNA1 (ENSG00000114554), PLXNA3 (ENSG00000130827), PLXNC1 (ENSG00000136040), PLXNB1 (ENSG00000164050), PLXNB2 (ENSG00000196576), PLXNB3 (ENSG00000198753)

Protein

Protein identifiers

Plexin-A4 — Q9HCM2 (reviewed: Q9HCM2)

All UniProt accessions (1): Q9HCM2

UniProt curated annotations — full annotation on UniProt →

Function. Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm.

Subunit / interactions. Interacts with NRP1 and NRP2.

Subcellular location. Cell membrane.

Similarity. Belongs to the plexin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9HCM2-1	1	yes
Q9HCM2-2	2
Q9HCM2-3	3
Q9HCM2-4	4

RefSeq proteins (4): NP_001099013, NP_001380826, NP_065962, NP_861440 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001627	Semap_dom	Domain
IPR002165	Plexin_repeat	Repeat
IPR002909	IPT_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR013548	Plexin_cytoplasmic_RasGAP_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016201	PSI	Domain
IPR031148	Plexin	Family
IPR036352	Semap_dom_sf	Homologous_superfamily
IPR041019	TIG1_plexin	Domain
IPR041362	TIG2_plexin	Domain
IPR046800	Plexin_RBD	Domain

Pfam: PF01403, PF01437, PF01833, PF08337, PF17960, PF18020, PF20170, PF24479

UniProt features (48 total): disulfide bond 10, domain 8, strand 6, splice variant 5, glycosylation site 4, sequence conflict 4, helix 4, topological domain 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4E74	X-RAY DIFFRACTION	1.58

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCM2-F1	83.46	0.42

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): 1350

Disulfide bonds (10): 95–104, 130–138, 284–405, 300–356, 374–393, 510–527, 516–558, 519–536, 530–542, 593–612

Glycosylation sites (4): 655, 1007, 1132, 1180

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-399954	Sema3A PAK dependent Axon repulsion
R-HSA-399955	SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
R-HSA-399956	CRMPs in Sema3A signaling
R-HSA-416700	Other semaphorin interactions
R-HSA-9615017	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes

MSigDB gene sets: 284 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_NEURON_PROJECTION_EXTENSION_INVOLVED_IN_NEURON_PROJECTION_GUIDANCE, REACTOME_OTHER_SEMAPHORIN_INTERACTIONS, GOBP_GROWTH, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_NEUROGENESIS, GOBP_CRANIAL_NERVE_MORPHOGENESIS, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOBP_ANATOMICAL_STRUCTURE_ARRANGEMENT, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_MOTOR_NEURON_AXON_GUIDANCE, GOBP_TAXIS

GO Biological Process (28): axon guidance (GO:0007411), synapse assembly (GO:0007416), motor neuron axon guidance (GO:0008045), facial nerve structural organization (GO:0021612), glossopharyngeal nerve morphogenesis (GO:0021615), trigeminal nerve structural organization (GO:0021637), vagus nerve morphogenesis (GO:0021644), postganglionic parasympathetic fiber development (GO:0021784), branchiomotor neuron axon guidance (GO:0021785), chemorepulsion of branchiomotor axon (GO:0021793), anterior commissure morphogenesis (GO:0021960), regulation of cell migration (GO:0030334), embryonic heart tube development (GO:0035050), sympathetic nervous system development (GO:0048485), regulation of axon extension involved in axon guidance (GO:0048841), regulation of negative chemotaxis (GO:0050923), semaphorin-plexin signaling pathway (GO:0071526), sympathetic neuron axon guidance (GO:0097492), maintenance of synapse structure (GO:0099558), cell surface receptor signaling pathway (GO:0007166), nervous system development (GO:0007399), telencephalon development (GO:0021537), cranial nerve morphogenesis (GO:0021602), facial nerve morphogenesis (GO:0021610), trigeminal nerve morphogenesis (GO:0021636), neuron projection morphogenesis (GO:0048812), negative chemotaxis (GO:0050919), regulation of chemotaxis (GO:0050920)

GO Molecular Function (3): semaphorin receptor activity (GO:0017154), protein binding (GO:0005515), signaling receptor activity (GO:0038023)

GO Cellular Component (4): semaphorin receptor complex (GO:0002116), plasma membrane (GO:0005886), cerebellar climbing fiber to Purkinje cell synapse (GO:0150053), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Semaphorin interactions	4
FOXO-mediated transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synapse organization	2
axon guidance	2
cranial nerve structural organization	2
cranial nerve morphogenesis	2
autonomic nervous system development	2
axonogenesis	1
neuron projection guidance	1
nervous system development	1
cell junction assembly	1
facial nerve morphogenesis	1
glossopharyngeal nerve development	1
trigeminal nerve morphogenesis	1
vagus nerve development	1
peripheral nervous system development	1
parasympathetic nervous system development	1
motor neuron axon guidance	1
branchiomotor neuron axon guidance	1
chemorepulsion of axon	1
telencephalon development	1
central nervous system projection neuron axonogenesis	1
cell migration	1
regulation of cell motility	1
heart development	1
tube development	1
embryonic organ development	1
epithelium development	1
system development	1
regulation of axon extension	1
axon extension involved in axon guidance	1
negative chemotaxis	1
regulation of chemotaxis	1
cell surface receptor signaling pathway	1
cell junction maintenance	1
signal transduction	1
transmembrane signaling receptor activity	1
semaphorin-plexin signaling pathway	1
binding	1
molecular transducer activity	1
signaling receptor complex	1
membrane	1

Protein interactions and networks

STRING

1178 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLXNA4	SEMA6A	Q9H2E6	999
PLXNA4	SEMA3A	Q14563	999
PLXNA4	NRP1	O14786	997
PLXNA4	NRP2	O60462	987
PLXNA4	SEMA6D	Q8NFY4	921
PLXNA4	PLXNA1	Q9UIW2	904
PLXNA4	SEMA3B	Q13214	849
PLXNA4	SEMA6B	Q9H3T3	844
PLXNA4	MICAL1	Q8TDZ2	824
PLXNA4	SEMA3F	Q13275	815
PLXNA4	SEMA3E	O15041	785
PLXNA4	SEMA3C	Q99985	759
PLXNA4	SEMA6C	Q9H3T2	723
PLXNA4	CLU	P10909	721
PLXNA4	MICAL2	O94851	713

IntAct

32 interactions, top by confidence:

A	B	Type	Score
PLXNA4	CRYZL1	psi-mi:“MI:0915”(physical association)	0.560
PLXNA4	CRYZL1	psi-mi:“MI:0914”(association)	0.560
PLXNA4	APLP2	psi-mi:“MI:0407”(direct interaction)	0.560
PLXNA4	APP	psi-mi:“MI:0407”(direct interaction)	0.560
DCT	CANX	psi-mi:“MI:0914”(association)	0.530
	PLXNA4	psi-mi:“MI:0407”(direct interaction)	0.440
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
SCN2A	IGLL5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SYT5	psi-mi:“MI:0914”(association)	0.350
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
CUL3	KIF21B	psi-mi:“MI:0914”(association)	0.350
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	CACNB4	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	IGLON5	psi-mi:“MI:0914”(association)	0.350
RNF149	CCDC85C	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
SGCZ	ATP5PD	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): PLXNA4 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), CRYZL1 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), PLXNA4 (Reconstituted Complex), PLXNA4 (Affinity Capture-MS), PLXNA4 (Co-fractionation), TOMM22 (Co-fractionation), PLXNA4 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS), CRYZL1 (Affinity Capture-MS), PLXNA4 (Affinity Capture-MS)

ESM2 similar proteins: A7MB70, B0S5N4, B2RXS4, D3ZPX4, F1MMS9, O08665, O15031, O42236, O42237, O75326, O88632, O95025, P17852, P18564, P26006, P51805, P61622, P70206, P70207, P70208, P70275, Q13275, Q14563, Q4LFA9, Q5RE75, Q61738, Q62177, Q62179, Q62181, Q62470, Q63258, Q63548, Q64151, Q6AYF4, Q6BEA0, Q80UG2, Q863C4, Q8BH34, Q8SQB8, Q90607

Diamond homologs: B0S5N4, B2RXS4, D3ZLH5, D3ZPX4, O15031, O43157, O60486, O75051, P51805, P70206, P70207, P70208, Q3UH93, Q6BEA0, Q80UG2, Q8CJH3, Q9HCM2, Q9NTN9, Q9QY40, Q9QZC2, Q9UIW2, Q9ULL4, Q9V4A7, Q9WUH7, Q9Y4D7, Q09YN5, Q80ZA4, Q60519, Q9P283, O42236, Q13591, Q9C0C4, A7MB70, D3ZTD8, O08665, O09126, O15041, O35464, O42237, O75326

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SEMA3B	“up-regulates activity”	PLXNA4	binding
SEMA3A	“up-regulates activity”	PLXNA4	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
axonogenesis	5	29.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	328
Likely benign	297
Benign	30

Top pathogenic / likely-pathogenic (0)

SpliceAI

7185 predictions. Top by Δscore:

Variant	Effect	Δscore
7:132133043:GCTTA:G	donor_loss	1.0000
7:132133044:CTTAC:C	donor_loss	1.0000
7:132133045:TTACC:T	donor_loss	1.0000
7:132133046:TACCT:T	donor_loss	1.0000
7:132133047:A:AC	donor_gain	1.0000
7:132133047:ACC:A	donor_loss	1.0000
7:132133047:ACCT:A	donor_gain	1.0000
7:132133048:C:CC	donor_gain	1.0000
7:132133048:CCT:C	donor_gain	1.0000
7:132133048:CCTC:C	donor_gain	1.0000
7:132133050:T:TA	donor_gain	1.0000
7:132140594:CTCA:C	donor_loss	1.0000
7:132140595:TCA:T	donor_loss	1.0000
7:132140596:CAC:C	donor_loss	1.0000
7:132140597:A:C	donor_loss	1.0000
7:132140812:C:CC	acceptor_gain	1.0000
7:132145112:CACT:C	donor_loss	1.0000
7:132145113:ACTC:A	donor_loss	1.0000
7:132145114:CTCA:C	donor_loss	1.0000
7:132145115:TCA:T	donor_loss	1.0000
7:132145116:CA:C	donor_loss	1.0000
7:132145117:A:AC	donor_gain	1.0000
7:132145118:C:CC	donor_gain	1.0000
7:132145118:CCA:C	donor_gain	1.0000
7:132145118:CCAA:C	donor_gain	1.0000
7:132148537:CCTCA:C	donor_loss	1.0000
7:132148538:CTCA:C	donor_loss	1.0000
7:132148539:TCACC:T	donor_loss	1.0000
7:132148540:CACC:C	donor_loss	1.0000
7:132148541:A:T	donor_loss	1.0000

AlphaMissense

12500 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:132133140:A:G	L1833P	1.000
7:132133198:A:C	Y1814D	1.000
7:132140635:G:T	A1801D	1.000
7:132140636:C:G	A1801P	1.000
7:132140639:A:C	Y1800D	1.000
7:132140641:A:C	L1799R	1.000
7:132140641:A:G	L1799P	1.000
7:132140641:A:T	L1799Q	1.000
7:132140644:A:C	L1798R	1.000
7:132140644:A:G	L1798P	1.000
7:132140644:A:T	L1798Q	1.000
7:132140646:C:A	K1797N	1.000
7:132140646:C:G	K1797N	1.000
7:132140648:T:C	K1797E	1.000
7:132140656:G:C	P1794R	1.000
7:132140656:G:T	P1794H	1.000
7:132140660:A:G	S1793P	1.000
7:132140691:G:C	C1782W	1.000
7:132140692:C:T	C1782Y	1.000
7:132140693:A:G	C1782R	1.000
7:132140696:A:G	S1781P	1.000
7:132140698:T:A	D1780V	1.000
7:132140698:T:C	D1780G	1.000
7:132140698:T:G	D1780A	1.000
7:132140699:C:A	D1780Y	1.000
7:132140699:C:G	D1780H	1.000
7:132140701:A:T	M1779K	1.000
7:132140709:C:A	Q1776H	1.000
7:132140709:C:G	Q1776H	1.000
7:132140713:G:T	A1775D	1.000

dbSNP variants (sampled 300 via entrez): RS1000003952 (7:132250333 G>A), RS1000004917 (7:132564843 TC>T,TCC), RS1000005975 (7:132578072 G>A), RS1000010987 (7:132194360 T>C), RS1000017192 (7:132195689 T>C), RS1000029760 (7:132293902 G>A,C), RS1000045799 (7:132415309 A>G), RS1000049372 (7:132288455 A>T), RS1000053563 (7:132587063 A>C,G), RS1000058 (7:132412257 C>A), RS1000059 (7:132412246 T>G), RS1000060338 (7:132275706 G>A,C,T), RS1000066201 (7:132522334 T>C), RS1000072713 (7:132641741 T>C), RS1000075754 (7:132148912 G>T)

Disease associations

OMIM: gene MIM:604280 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST001444_16	Pulmonary function decline	2.000000e-06
GCST001519_7	Economic and political preferences	7.000000e-06
GCST001834_7	Oleic acid (18:1n-9) levels	5.000000e-06
GCST001952_2	Self-employment	9.000000e-06
GCST002251_5	Homeostasis model assessment of beta-cell function (dietary factor interaction)	3.000000e-06
GCST002386_8	Cognitive function	7.000000e-06
GCST002491_25	Age-related hearing impairment	8.000000e-06
GCST003830_28	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	5.000000e-07
GCST003830_4	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	8.000000e-08
GCST005784_3	Bone mineral density (femoral neck) in inflammatory bowel disease	1.000000e-06
GCST007094_203	Diastolic blood pressure	2.000000e-09
GCST007095_33	Systolic blood pressure	2.000000e-06
GCST007095_34	Systolic blood pressure	5.000000e-06
GCST007099_138	Systolic blood pressure	2.000000e-09
GCST007576_82	Chronotype	1.000000e-08
GCST008103_141	Bipolar disorder	3.000000e-06
GCST010002_264	Refractive error	1.000000e-11
GCST010516_4	Fractures (paediatric)	1.000000e-06
GCST011408_2	Concussion	4.000000e-09
GCST012465_49	Bipolar disorder	4.000000e-08
GCST012490_290	Femur bone mineral density x serum urate levels interaction	5.000000e-09
GCST012490_36	Femur bone mineral density x serum urate levels interaction	6.000000e-12
GCST90000015_31	Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio)	1.000000e-05

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0004827	economic and social preference
EFO:0005241	employment status
EFO:0004469	HOMA-B
EFO:0008111	diet measurement
EFO:0003925	cognition
EFO:0005921	FEV change measurement
EFO:0007785	femoral neck bone mineral density
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0008328	chronotype measurement
EFO:0011023	concussion
EFO:0004531	urate measurement
EFO:0600011	Parkinson’s disease symptom measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression, affects expression	3
Ethinyl Estradiol	affects expression, decreases expression	3
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	affects expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Carbamazepine	affects expression	1
Citrinin	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Folic Acid	decreases expression	1
Indomethacin	affects cotreatment, decreases expression, increases expression	1
Lead	affects methylation	1
T-2 Toxin	decreases expression	1

Clinical trials (associated diseases)

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