GOLGA4

Summary

GOLGA4 (golgin A4, HGNC:4427) is a protein-coding gene on chromosome 3p22.2, encoding Golgin subfamily A member 4 (Q13439). Involved in vesicular trafficking at the Golgi apparatus level.

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.

Source: NCBI Gene 2803 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 365 total
• MANE Select transcript: NM_002078

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4427
Approved symbol	GOLGA4
Name	golgin A4
Location	3p22.2
Locus type	gene with protein product
Status	Approved
Aliases	golgin-245, GOLG, GCP2, p230, golgin-240
Ensembl gene	ENSG00000144674
Ensembl biotype	protein_coding
OMIM	602509
Entrez	2803

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 21 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000356847, ENST00000361924, ENST00000419177, ENST00000429018, ENST00000431105, ENST00000435830, ENST00000437131, ENST00000444882, ENST00000450863, ENST00000497537, ENST00000498250, ENST00000699994, ENST00000699995, ENST00000699996, ENST00000706568, ENST00000706569, ENST00000918079, ENST00000918080, ENST00000918081, ENST00000918082, ENST00000918083, ENST00000918084, ENST00000918085, ENST00000918086, ENST00000918087, ENST00000953906

RefSeq mRNA: 10 — MANE Select: NM_002078 NM_001172713, NM_001410721, NM_001429190, NM_001429191, NM_001429193, NM_001429196, NM_001429198, NM_001429201, NM_001429202, NM_002078

CCDS: CCDS2666, CCDS54564, CCDS93242

Canonical transcript exons

ENST00000361924 — 24 exons

Exon	Start	End
ENSE00001138651	37321731	37321886
ENSE00001138663	37319063	37319194
ENSE00001250902	37328963	37329093
ENSE00001296324	37335053	37335166
ENSE00001296621	37340124	37340199
ENSE00001298280	37355101	37355187
ENSE00001303935	37323588	37327825
ENSE00001315030	37337666	37337734
ENSE00001316090	37347193	37347296
ENSE00001619978	37243271	37243622
ENSE00001673232	37366080	37366879
ENSE00001688789	37281958	37282272
ENSE00003461817	37328416	37328537
ENSE00003462069	37299288	37299371
ENSE00003472577	37296087	37296219
ENSE00003577564	37289235	37289291
ENSE00003603508	37302185	37302332
ENSE00003628495	37315420	37315598
ENSE00003629180	37294979	37295077
ENSE00003655379	37286014	37286061
ENSE00003676379	37298833	37299020
ENSE00003978482	37251395	37251484
ENSE00003978507	37361243	37361305
ENSE00003978508	37337143	37337163

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 98.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.3383 / max 922.6606, expressed in 1815 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36050	26.6830	1812
36051	2.6107	1312
36063	1.7775	773
36052	0.6711	348
36056	0.4472	196
36064	0.1488	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gluteal muscle	UBERON:0002000	98.78	gold quality
jejunal mucosa	UBERON:0000399	98.68	gold quality
biceps brachii	UBERON:0001507	98.27	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.17	gold quality
jejunum	UBERON:0002115	98.04	gold quality
diaphragm	UBERON:0001103	97.89	gold quality
heart right ventricle	UBERON:0002080	97.85	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.63	gold quality
left ventricle myocardium	UBERON:0006566	97.59	gold quality
cartilage tissue	UBERON:0002418	97.49	gold quality
triceps brachii	UBERON:0001509	97.48	gold quality
myocardium	UBERON:0002349	97.41	gold quality
skeletal muscle tissue	UBERON:0001134	97.16	gold quality
parotid gland	UBERON:0001831	97.13	gold quality
pigmented layer of retina	UBERON:0001782	97.08	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.06	gold quality
deltoid	UBERON:0001476	97.00	gold quality
body of tongue	UBERON:0011876	96.98	gold quality
calcaneal tendon	UBERON:0003701	96.97	gold quality
vastus lateralis	UBERON:0001379	96.90	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.78	gold quality
quadriceps femoris	UBERON:0001377	96.70	gold quality
seminal vesicle	UBERON:0000998	96.63	gold quality
gastrocnemius	UBERON:0001388	96.61	gold quality
muscle tissue	UBERON:0002385	96.61	gold quality
oral cavity	UBERON:0000167	96.48	gold quality
penis	UBERON:0000989	96.45	gold quality
upper arm skin	UBERON:0004263	96.42	gold quality
caput epididymis	UBERON:0004358	96.41	gold quality
colonic mucosa	UBERON:0000317	96.38	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	824.96
E-CURD-135	no	3490.86
E-GEOD-124858	no	895.66
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting GOLGA4, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698

Literature-anchored findings (GeneRIF, showing 11)

• crystal structure of Arl1-GTP in complex with the GRIP domain of golgin-245 shows that Arl1-GTP interacts with the GRIP domain predominantly in a hydrophobic manner, with the switch II region conferring the main recognition surface (PMID:14718928)
• P230, through its interaction with MACF1, provides the molecular link for transport of GPI-anchored proteins along the microtubule and actin cytoskeleton from the TGN to the cell periphery. (PMID:15265687)
• The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported. (PMID:15654769)
• tGolgin-1 functions in Golgi positioning indirectly, probably by regulating retrograde movement of cargo required for recruitment or activation of dynein-dynactin complexes on newly formed Golgi elements. (PMID:15870108)
• golgin-245 is a key regulator of TNF secretion; LPS activation of macrophages results in increased Golgi carriers for export, up-regulating the transport pathway for TNF export. (PMID:18308930)
• The protein CrpF46 has an apparent molecular mass of ~60 kDa, is highly homologous to a 527 amino acid sequence of the C-terminal portion of the protein Golgin-245, and appears to be a splice variant of Golgin-245. (PMID:18394601)
• CD99 also binds p230/golgin-245, a coiled-coil protein that recycles between the cytosol and buds/vesicles of the TGN and which plays a fundamental role in trafficking transport vesicles. (PMID:18849489)
• p230 is an important molecule in phagophore formation, although it remains unclear whether p230 has any role in late steps of autophagy (PMID:25436429)
• This study provides Class III evidence that elevated cerebrospinal fluid golgin A4 levels identify patients with Alzheimer disease. (PMID:30305446)
• CrpF46 regulates cell migration by centrosomal reorientation and altering the function of the actomyosin network by controlling specific phosphorylation of myosin. (PMID:30336116)
• Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia. (PMID:34697799)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	golga4	ENSDARG00000075331
mus_musculus	Golga4	ENSMUSG00000038708
rattus_norvegicus	Golga4	ENSRNOG00000085953
drosophila_melanogaster	Golgin245	FBGN0034854

Protein

Protein identifiers

Golgin subfamily A member 4 — Q13439 (reviewed: Q13439)

Alternative names: 256 kDa golgin, Golgin-245, Protein 72.1, Trans-Golgi p230

All UniProt accessions (10): Q13439, A0A8V8TPI8, A0A8V8TQI6, A0A9L9PX25, A0A9L9PXP4, C9J0Y3, C9JHJ5, E7EVX2, H0Y6I0, Q86W71

UniProt curated annotations — full annotation on UniProt →

Function. Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking.

Subunit / interactions. Homodimer. Interacts with RAB6A. Interacts with GTP-bound ARL1 and ARL3. Interacts with MACF1. Directly interacts with TBC1D23. Interacts with FAM91A1; this interaction may be mediated by TBC1D23.

Subcellular location. Cytoplasm. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane.

Domain organisation. Extended rod-like protein with coiled-coil domains.

Miscellaneous. Antibodies against GOLGA4 are present in sera from patients with Sjoegren syndrome. Sera from patients with Sjoegren syndrome often contain antibodies that react with normal components of the Golgi complex.

Isoforms (4)

UniProt ID	Names	Canonical?
Q13439-1	1	yes
Q13439-3	3
Q13439-4	4
Q13439-5	5

RefSeq proteins (10): NP_001166184, NP_001397650, NP_001416119, NP_001416120, NP_001416122, NP_001416125, NP_001416127, NP_001416130, NP_001416131, NP_002069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000237	GRIP_dom	Domain

Pfam: PF01465

UniProt features (48 total): mutagenesis site 14, modified residue 8, sequence conflict 7, splice variant 3, region of interest 3, sequence variant 3, helix 3, glycosylation site 2, compositionally biased region 2, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1UPT	X-RAY DIFFRACTION	1.7
1R4A	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13439-F1	67.00	0.00

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 (8): 41, 71, 78, 89, 266, 2223, 10, 39

Glycosylation sites (2): 585, 1612

Mutagenesis-validated functional residues (14):

Position	Phenotype
2	loss of tbc1d23-binding.
2177	loss of localization at the golgi apparatus. loss of arl1-binding.
2177	no effect on localization at the golgi apparatus.
2181	abolishes golgi localization.
2183	abolishes golgi localization.
2185	loss of localization at the golgi apparatus.
2186	abolishes golgi localization.
2193	abolishes golgi localization.
2194	abolishes golgi localization.
2197	abolishes golgi localization.
2198	abolishes golgi localization.
2202	abolishes golgi localization.
2204	abolishes golgi localization.
2212	abolishes golgi localization.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-9673768	Signaling by membrane-tethered fusions of PDGFRA or PDGFRB

MSigDB gene sets: 254 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_NEURON_PROJECTION_EXTENSION, MODULE_255, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, MODULE_317, KYNG_DNA_DAMAGE_DN, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT

GO Biological Process (4): vesicle-mediated transport (GO:0016192), Golgi to plasma membrane protein transport (GO:0043001), positive regulation of axon extension (GO:0045773), Golgi vesicle transport (GO:0048193)

GO Molecular Function (3): small GTPase binding (GO:0031267), GTPase binding (GO:0051020), protein binding (GO:0005515)

GO Cellular Component (9): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signaling by PDGFR in disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
transport	1
cellular process	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
positive regulation of cell growth	1
regulation of axon extension	1
positive regulation of developmental growth	1
axon extension	1
positive regulation of axonogenesis	1
vesicle-mediated transport	1
GTPase binding	1
enzyme binding	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

1719 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA4	MACF1	Q9UPN3	934
GOLGA4	GCC1	Q96CN9	920
GOLGA4	GCC2	Q8IWJ2	866
GOLGA4	GOLGA1	Q92805	836
GOLGA4	GRIP1	Q9Y3R0	821
GOLGA4	ANKRD27	Q96NW4	815
GOLGA4	EVPL	Q92817	771
GOLGA4	GOLGB1	Q14789	755
GOLGA4	GOLGA2	Q08379	712
GOLGA4	TBC1D23	Q9NUY8	704
GOLGA4	TGOLN2	O43493	674
GOLGA4	RGPD8	O14715	673
GOLGA4	GOLGA3	Q08378	663
GOLGA4	GOLPH3	Q9H4A6	639
GOLGA4	VTI1A	Q96AJ9	632

IntAct

68 interactions, top by confidence:

A	B	Type	Score
DTNB	DMD	psi-mi:“MI:0914”(association)	0.890
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RALBP1	JUN	psi-mi:“MI:0914”(association)	0.640
WASHC3	WASH3P	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
DNAJA1	DNAJA2	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
ANKRD27	GOLGA4	psi-mi:“MI:0915”(physical association)	0.510
GOLGA4	LIMD1	psi-mi:“MI:0915”(physical association)	0.500
Arl1	GOLGA4	psi-mi:“MI:0407”(direct interaction)	0.440
GOLGA4		psi-mi:“MI:0203”(dephosphorylation reaction)	0.440
TSC1	GOLGA4	psi-mi:“MI:0915”(physical association)	0.400
SCAF1	GOLGA4	psi-mi:“MI:0915”(physical association)	0.400
POGLUT2	GOLGA4	psi-mi:“MI:0915”(physical association)	0.400
GOLGA4	S100A10	psi-mi:“MI:0915”(physical association)	0.400
RFWD3	GOLGA4	psi-mi:“MI:0915”(physical association)	0.400
GOLGA4	GOLGB1	psi-mi:“MI:0915”(physical association)	0.400
ACADSB	GOLGA4	psi-mi:“MI:0915”(physical association)	0.400
LIN54	HDAC3	psi-mi:“MI:0914”(association)	0.350
PB2		psi-mi:“MI:0914”(association)	0.350
PLEKHG6	PSMA7	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
TP63	HNRNPR	psi-mi:“MI:0914”(association)	0.350
ESR2		psi-mi:“MI:0914”(association)	0.350
DNAJB1	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (296): NOL11 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), SMYD2 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), UBR7 (Affinity Capture-MS), ARL1 (Two-hybrid), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BID5, A0A8M9PQ61, A1Z8P9, A6QR54, B4KE73, E9Q7G0, F1R4Y7, O15083, O55156, O60437, O61308, Q11102, Q13439, Q15643, Q3SWS9, Q5DTN8, Q5M9N0, Q5PQ23, Q5RI56, Q5U4E6, Q5VZ66, Q5ZKK5, Q66H89, Q6DFL0, Q6PH08, Q6ZU80, Q7ZW57, Q811U3, Q8BI22, Q8BVL9, Q8CDI6, Q8CDI7, Q8CGB3, Q8HYY4, Q8IUD2, Q8K3M6, Q8WXW3, Q91VW5, Q96AA8, Q96N16

Diamond homologs: Q13439, Q5U4E6, Q91VW5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	295
Likely benign	27
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

4505 predictions. Top by Δscore:

Variant	Effect	Δscore
3:37243620:CAGGT:C	donor_loss	1.0000
3:37243623:GTACG:G	donor_loss	1.0000
3:37243624:T:G	donor_loss	1.0000
3:37249683:T:A	acceptor_gain	1.0000
3:37251480:GAGAG:G	donor_gain	1.0000
3:37251482:GAG:G	donor_gain	1.0000
3:37251485:G:GG	donor_gain	1.0000
3:37251485:GT:G	donor_loss	1.0000
3:37251486:TAAG:T	donor_loss	1.0000
3:37273532:TTAG:T	acceptor_loss	1.0000
3:37273533:TAGA:T	acceptor_loss	1.0000
3:37273534:A:AG	acceptor_gain	1.0000
3:37273534:AGA:A	acceptor_loss	1.0000
3:37273535:G:GA	acceptor_gain	1.0000
3:37273535:GA:G	acceptor_gain	1.0000
3:37273535:GAA:G	acceptor_gain	1.0000
3:37273535:GAAT:G	acceptor_gain	1.0000
3:37273579:G:GT	donor_gain	1.0000
3:37282241:GCT:G	donor_gain	1.0000
3:37282243:T:G	donor_gain	1.0000
3:37282243:T:TG	donor_gain	1.0000
3:37282268:CTGAG:C	donor_loss	1.0000
3:37282269:TGAG:T	donor_loss	1.0000
3:37282270:GAGG:G	donor_loss	1.0000
3:37282271:AGGT:A	donor_loss	1.0000
3:37282273:GT:G	donor_loss	1.0000
3:37294970:A:AG	acceptor_gain	1.0000
3:37294970:AT:A	acceptor_gain	1.0000
3:37294971:T:A	acceptor_gain	1.0000
3:37294971:T:G	acceptor_gain	1.0000

AlphaMissense

14914 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:37295067:T:C	L224P	0.999
3:37294983:T:C	L196P	0.998
3:37295013:T:C	L206P	0.998
3:37295030:G:C	A212P	0.997
3:37347249:T:C	Y2177H	0.997
3:37355107:G:C	A2195P	0.997
3:37355114:T:A	V2197D	0.997
3:37355117:T:A	I2198K	0.997
3:37295000:G:C	A202P	0.996
3:37299316:T:C	L344P	0.996
3:37299336:G:C	A351P	0.996
3:37347256:G:C	R2179P	0.996
3:37355117:T:G	I2198R	0.996
3:37295005:G:C	K203N	0.995
3:37295005:G:T	K203N	0.995
3:37296094:T:C	L230P	0.995
3:37299358:T:C	L358P	0.995
3:37302210:G:C	R371P	0.995
3:37302258:T:C	L387P	0.995
3:37347250:A:G	Y2177C	0.995
3:37347253:T:C	L2178S	0.995
3:37355129:T:C	L2202P	0.995
3:37355135:T:C	F2204S	0.995
3:37347265:T:C	L2182P	0.994
3:37347273:T:G	Y2185D	0.994
3:37289284:T:C	L192S	0.993
3:37295076:A:C	Q227P	0.993
3:37328968:G:C	A2023P	0.993
3:37347267:T:C	F2183L	0.993
3:37347269:T:A	F2183L	0.993

dbSNP variants (sampled 300 via entrez): RS1000010252 (3:37347452 A>G), RS1000015574 (3:37262334 C>A), RS1000029355 (3:37241449 T>A), RS1000051578 (3:37262511 G>A), RS1000086420 (3:37336737 C>T), RS1000105662 (3:37264132 G>A,C), RS1000141892 (3:37291011 G>A), RS1000168223 (3:37339929 A>G), RS1000205682 (3:37287238 G>A), RS1000225864 (3:37287402 A>G), RS1000229536 (3:37270386 T>C), RS1000254968 (3:37299691 A>G), RS1000270114 (3:37354825 T>C), RS1000295968 (3:37256693 G>A), RS1000298018 (3:37287210 G>A,C,T)

Disease associations

OMIM: gene MIM:602509 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003158_2	Subjective response to lithium treatment	8.000000e-07
GCST004521_90	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST007269_48	Pulse pressure	1.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	increases expression, affects methylation, affects cotreatment, increases abundance	3
Arsenic	decreases expression, affects cotreatment, increases abundance, increases expression, affects methylation	3
Lead	affects splicing, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
alpha-cobratoxin	decreases reaction, increases expression, decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
1-nitropyrene	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
hexabrominated diphenyl ether 153	increases expression	1
jinfukang	decreases expression	1
bisphenol AF	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0E0	Ubigene HeLa GOLGA4 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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