SYNRG

Summary

SYNRG (synergin gamma, HGNC:557) is a protein-coding gene on chromosome 17q12, encoding Synergin gamma (Q9UMZ2). Plays a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN).

This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene.

Source: NCBI Gene 11276 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 178 total
• MANE Select transcript: NM_007247

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:557
Approved symbol	SYNRG
Name	synergin gamma
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	SYNG, MGC104959
Ensembl gene	ENSG00000275066
Ensembl biotype	protein_coding
OMIM	607291
Entrez	11276

Gene structure

Transcript identifiers

Ensembl transcripts: 57 — 50 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000611910, ENST00000612223, ENST00000612641, ENST00000612770, ENST00000614000, ENST00000614196, ENST00000614941, ENST00000616179, ENST00000618829, ENST00000619541, ENST00000619914, ENST00000619976, ENST00000620424, ENST00000621136, ENST00000621605, ENST00000622045, ENST00000851005, ENST00000864289, ENST00000864290, ENST00000864291, ENST00000864292, ENST00000864293, ENST00000864294, ENST00000864295, ENST00000864296, ENST00000864297, ENST00000864298, ENST00000864299, ENST00000864300, ENST00000864301, ENST00000864302, ENST00000864303, ENST00000864304, ENST00000864305, ENST00000864306, ENST00000864307, ENST00000864308, ENST00000864309, ENST00000864310, ENST00000936284, ENST00000936285, ENST00000936286, ENST00000936287, ENST00000936288, ENST00000936289, ENST00000936290, ENST00000936291, ENST00000936292, ENST00000936294, ENST00000936295, ENST00000936296, ENST00000972434, ENST00000972435, ENST00000972436, ENST00000972437, ENST00000972438, ENST00000972439

RefSeq mRNA: 8 — MANE Select: NM_007247 NM_001163544, NM_001163545, NM_001163546, NM_001163547, NM_001405103, NM_007247, NM_080550, NM_198882

CCDS: CCDS11321, CCDS11322, CCDS54113, CCDS54114, CCDS59284, CCDS59285

Canonical transcript exons

ENST00000612223 — 22 exons

Exon	Start	End
ENSE00003714219	37561471	37561589
ENSE00003714677	37520179	37520214
ENSE00003718156	37520538	37520648
ENSE00003719207	37596223	37596344
ENSE00003721130	37538324	37538420
ENSE00003721750	37553115	37554059
ENSE00003722120	37609279	37609418
ENSE00003723050	37571791	37571987
ENSE00003723199	37514807	37519071
ENSE00003723690	37540380	37540543
ENSE00003725304	37584648	37584759
ENSE00003728893	37577380	37577613
ENSE00003733029	37570637	37570885
ENSE00003733706	37541972	37542565
ENSE00003739599	37585325	37585430
ENSE00003742438	37600363	37600403
ENSE00003744561	37539192	37539245
ENSE00003747097	37576341	37576418
ENSE00003748027	37535979	37536127
ENSE00003749691	37561195	37561257
ENSE00003751413	37586419	37586549
ENSE00003751465	37568791	37568924

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5862 / max 291.0336, expressed in 1816 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165476	30.2502	1816
165472	0.1699	66
165474	0.0886	25
165473	0.0775	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	93.33	gold quality
tonsil	UBERON:0002372	93.19	gold quality
colonic epithelium	UBERON:0000397	92.62	gold quality
lymph node	UBERON:0000029	90.92	gold quality
sural nerve	UBERON:0015488	90.92	gold quality
islet of Langerhans	UBERON:0000006	89.61	gold quality
granulocyte	CL:0000094	89.10	gold quality
vermiform appendix	UBERON:0001154	88.70	gold quality
corpus callosum	UBERON:0002336	88.45	gold quality
ganglionic eminence	UBERON:0004023	87.95	gold quality
adrenal tissue	UBERON:0018303	87.92	gold quality
bone marrow	UBERON:0002371	87.79	gold quality
blood	UBERON:0000178	87.48	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.08	gold quality
stromal cell of endometrium	CL:0002255	86.98	gold quality
ventricular zone	UBERON:0003053	86.85	gold quality
leukocyte	CL:0000738	86.56	gold quality
skeletal muscle tissue	UBERON:0001134	86.28	gold quality
monocyte	CL:0000576	86.06	gold quality
muscle tissue	UBERON:0002385	85.83	gold quality
spleen	UBERON:0002106	85.43	gold quality
cortical plate	UBERON:0005343	85.39	gold quality
rectum	UBERON:0001052	85.35	gold quality
calcaneal tendon	UBERON:0003701	85.27	gold quality
gall bladder	UBERON:0002110	85.20	gold quality
urinary bladder	UBERON:0001255	85.04	gold quality
pancreas	UBERON:0001264	84.87	gold quality
smooth muscle tissue	UBERON:0001135	84.45	gold quality
endometrium	UBERON:0001295	84.31	gold quality
testis	UBERON:0000473	84.21	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

139 targeting SYNRG, 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-513A-5P	100.00	69.77	2465
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 4)

• the aftiphilin/p200/gamma-synergin complex facilitates AP-1 function (PMID:15758025)
• AP-3 and AP-1 function in partially redundant pathways to transfer tyrosinase from distinct endosomal subdomains to melanosomes (PMID:16162817)
• Data show that by recruiting aftiphilin/gamma-synergin in addition to clathrin, AP-1 coordinates formation of Weibel-Palade bodies with their acquisition of a regulated secretory phenotype. (PMID:18815278)
• Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia. (PMID:35090779)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	synrg	ENSDARG00000073926
mus_musculus	Synrg	ENSMUSG00000034940
rattus_norvegicus	AC105531.1	ENSRNOG00000053814
caenorhabditis_elegans		WBGENE00011218

Protein

Protein identifiers

Synergin gamma — Q9UMZ2 (reviewed: Q9UMZ2)

Alternative names: AP1 subunit gamma-binding protein 1, Gamma-synergin

All UniProt accessions (4): Q9UMZ2, A0A087WW94, A0A087WZF6, A0A087WZS7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins. Component of clathrin-coated vesicles. Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes.

Subunit / interactions. Self-associates. Interacts with GGA1 (via GAE domain). Interacts with GGA2 and GGA3. Interacts with AP1G1 (via GAE domain), a subunit of adapter protein complex AP-1. Interacts with AP1G2 (via GAE domain) a subunit of adapter protein complex AP-1. Component of the aftiphilin/p200/gamma-synergin complex, at least composed of AFTPH/aftiphilin, HEATR5B/p200a and SYNRG/gamma-synergin, which plays a role in the AP1G1/AP-1-mediated trafficking of transferrin from early to recycling endosomes. Within the complex interacts with AFTPH/aftiphilin and HEATR5B/p200a; the interactions are direct. Interacts (via EH domain) with SCAMP1.

Subcellular location. Cytoplasm. Golgi apparatus. trans-Golgi network membrane. Perinuclear region. Cytoplasmic vesicle. Clathrin-coated vesicle.

Domain organisation. The DFXDF motifs mediate the interaction with gamma-appendage subunits AP1G1 and AP1G2.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9UMZ2-1	1	yes
Q9UMZ2-3	2
Q9UMZ2-4	3
Q9UMZ2-5	4
Q9UMZ2-6	5
Q9UMZ2-7	6
Q9UMZ2-8	7
Q9UMZ2-9	8

RefSeq proteins (8): NP_001157016, NP_001157017, NP_001157018, NP_001157019, NP_001392032, NP_009178, NP_542117, NP_942583 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000261	EH_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR039656	SYNRG	Family
IPR059024	SYNRG_C	Domain

Pfam: PF12763, PF25999

UniProt features (53 total): modified residue 19, region of interest 6, splice variant 6, helix 6, short sequence motif 3, compositionally biased region 3, sequence variant 3, sequence conflict 3, chain 1, domain 1, strand 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2MX7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UMZ2-F1	48.74	0.10

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 (19): 473, 513, 580, 720, 744, 752, 772, 812, 852, 855, 909, 919, 935, 1006, 1073, 1075, 1087, 1098, 1100

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 203 (showing top): RNGTGGGC_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, NKX25_02, GCANCTGNY_MYOD_Q6, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, GOCC_COATED_VESICLE, TCF11_01, HFH3_01, GOCC_GOLGI_ASSOCIATED_VESICLE, GOCC_VESICLE_COAT, NRF2_01

GO Biological Process (3): intracellular protein transport (GO:0006886), endocytosis (GO:0006897), protein transport (GO:0015031)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), AP-1 adaptor complex (GO:0030121), clathrin coat of trans-Golgi network vesicle (GO:0030130), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
intracellular protein localization	2
protein transport	1
intracellular transport	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
transport	1
establishment of protein localization	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
clathrin coat of trans-Golgi network vesicle	1
clathrin adaptor complex	1
Golgi apparatus	1
trans-Golgi network transport vesicle membrane	1
clathrin vesicle coat	1
coated vesicle	1
intracellular vesicle	1

Protein interactions and networks

STRING

1465 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYNRG	SCAMP1	O15126	766
SYNRG	GGA3	Q9NZ52	704
SYNRG	GGA1	Q9UJY5	703
SYNRG	AFTPH	Q6ULP2	693
SYNRG	C17orf78	Q8N4C9	690
SYNRG	AP1G2	O75843	674
SYNRG	TADA2A	O75478	659
SYNRG	MRM1	Q6IN84	628
SYNRG	GGNBP2	Q9H3C7	627
SYNRG	PIGW	Q7Z7B1	623
SYNRG	DDX52	Q9Y2R4	603
SYNRG	GGA2	Q9UJY4	600
SYNRG	ZNHIT3	Q15649	581
SYNRG	AP1G1	O43747	580
SYNRG	GSTM1	P09488	558

IntAct

57 interactions, top by confidence:

A	B	Type	Score
MLF1	DNAJB6	psi-mi:“MI:0914”(association)	0.750
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GGA3	RABEP1	psi-mi:“MI:0915”(physical association)	0.700
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.660
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
APPBP2	SYNRG	psi-mi:“MI:0915”(physical association)	0.560
SYNRG	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
AURKA	WDR62	psi-mi:“MI:0914”(association)	0.530
AFTPH	SYNRG	psi-mi:“MI:0915”(physical association)	0.500
SYNRG	GGA2	psi-mi:“MI:0407”(direct interaction)	0.440
SYNRG	GGA1	psi-mi:“MI:0407”(direct interaction)	0.440
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
GIGYF1	DYNC1I1	psi-mi:“MI:0914”(association)	0.350
ARHGAP18	CLTB	psi-mi:“MI:0914”(association)	0.350
PIN4	SEC22B	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
AP1B1	SYNJ1	psi-mi:“MI:0914”(association)	0.350
AP1S3	AP1G1	psi-mi:“MI:0914”(association)	0.350
AP1G2	ALB	psi-mi:“MI:0914”(association)	0.350

BioGRID (111): SYNRG (Two-hybrid), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Proximity Label-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS), SYNRG (Affinity Capture-MS)

ESM2 similar proteins: A0JME2, A5H447, A6NF01, A8CG34, E9Q3G8, F4ID16, G0SDP9, G5E8Z2, O08587, O15504, O88797, O95081, P20676, P49790, P49791, P52591, P52594, P98082, Q03173, Q0VA45, Q2TA45, Q4KLH5, Q5FVW4, Q5PRE5, Q5RB98, Q5SV85, Q5XGN1, Q5ZI22, Q5ZIE8, Q5ZM88, Q64028, Q640Z6, Q6P0U9, Q80WC7, Q86XN7, Q8CIC2, Q8K2K6, Q8K3Z9, Q8L7F7, Q8R080

Diamond homologs: P0CR58, P0CR59, P34550, Q5SV85, Q9JKC9, Q9UMZ2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	104.5×	1e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	92.2×	2e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	92.2×	2e-11
Activation of BH3-only proteins	7	68.2×	2e-10
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	5	62.2×	2e-07
The role of Nef in HIV-1 replication and disease pathogenesis	5	62.2×	2e-07
Lysosome Vesicle Biogenesis	7	44.8×	6e-09
RHO GTPases activate PKNs	7	43.5×	6e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	8	46.5×	3e-09
intracellular protein localization	10	16.6×	7e-08
intracellular protein transport	13	13.4×	3e-09
vesicle-mediated transport	7	10.7×	3e-04
regulation of protein stability	5	10.0×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	136
Likely benign	20
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4391 predictions. Top by Δscore:

Variant	Effect	Δscore
17:37520177:A:AC	donor_gain	1.0000
17:37520178:C:CC	donor_gain	1.0000
17:37520531:GACTT:G	donor_loss	1.0000
17:37520532:ACTT:A	donor_loss	1.0000
17:37520533:CTT:C	donor_loss	1.0000
17:37520534:TTA:T	donor_loss	1.0000
17:37520535:TACCC:T	donor_loss	1.0000
17:37520536:A:AC	donor_gain	1.0000
17:37520536:AC:A	donor_gain	1.0000
17:37520537:C:CC	donor_gain	1.0000
17:37520537:CC:C	donor_gain	1.0000
17:37520537:CCCGG:C	donor_gain	1.0000
17:37520645:CTGG:C	acceptor_gain	1.0000
17:37520646:TGG:T	acceptor_gain	1.0000
17:37520647:GG:G	acceptor_gain	1.0000
17:37520649:C:CC	acceptor_gain	1.0000
17:37520649:C:CG	acceptor_loss	1.0000
17:37520651:G:C	acceptor_gain	1.0000
17:37520651:G:GC	acceptor_gain	1.0000
17:37520659:G:T	acceptor_gain	1.0000
17:37535977:A:AC	donor_gain	1.0000
17:37535978:C:CC	donor_gain	1.0000
17:37536022:A:AC	donor_gain	1.0000
17:37536023:C:CC	donor_gain	1.0000
17:37536125:CAC:C	acceptor_gain	1.0000
17:37538317:AACAT:A	donor_loss	1.0000
17:37538318:ACAT:A	donor_loss	1.0000
17:37538319:CAT:C	donor_loss	1.0000
17:37538320:AT:A	donor_loss	1.0000
17:37538321:TA:T	donor_loss	1.0000

AlphaMissense

8652 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:37518994:C:A	W1297C	1.000
17:37518994:C:G	W1297C	1.000
17:37518996:A:G	W1297R	1.000
17:37518996:A:T	W1297R	1.000
17:37519004:G:T	A1294D	1.000
17:37519006:A:C	C1293W	1.000
17:37519007:C:T	C1293Y	1.000
17:37519008:A:G	C1293R	1.000
17:37519020:A:C	Y1289D	1.000
17:37520565:G:C	C1250W	1.000
17:37520567:A:G	C1250R	1.000
17:37520576:A:G	C1247R	1.000
17:37536010:A:G	L1212P	1.000
17:37538342:C:G	G1167R	1.000
17:37539208:A:G	L1135P	1.000
17:37539219:C:A	W1131C	1.000
17:37539219:C:G	W1131C	1.000
17:37539221:A:G	W1131R	1.000
17:37539221:A:T	W1131R	1.000
17:37571825:A:G	L355P	1.000
17:37571874:A:G	W339R	1.000
17:37571874:A:T	W339R	1.000
17:37571915:A:G	L325P	1.000
17:37518983:A:T	V1301D	0.999
17:37518998:A:G	F1296S	0.999
17:37519000:G:C	N1295K	0.999
17:37519000:G:T	N1295K	0.999
17:37519017:G:C	H1290D	0.999
17:37519019:T:G	Y1289S	0.999
17:37519020:A:G	Y1289H	0.999

dbSNP variants (sampled 300 via entrez): RS1000007762 (17:37560693 A>G), RS1000042046 (17:37554529 C>T), RS1000053003 (17:37605395 G>A), RS1000059894 (17:37514601 C>G), RS1000113983 (17:37559745 T>C), RS1000211854 (17:37547231 A>T), RS1000246699 (17:37524934 T>C), RS1000321151 (17:37592490 T>C), RS1000352409 (17:37592794 G>A), RS1000354452 (17:37544472 G>A), RS1000359965 (17:37541350 C>G), RS1000370541 (17:37586791 C>G,T), RS1000402273 (17:37559427 C>T), RS1000415944 (17:37537925 C>T), RS1000470311 (17:37535134 T>C)

Disease associations

OMIM: gene MIM:607291 | 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
GCST001520_8	Response to angiotensin II receptor blocker therapy	2.000000e-06
GCST001941_16	Ovarian cancer	8.000000e-10
GCST90002388_493	Lymphocyte count	1.000000e-20

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression	3
FR900359	affects phosphorylation	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
butyraldehyde	decreases expression	1
coumarin	increases phosphorylation	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
entinostat	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Ozone	increases abundance, affects expression	1
Silicon Dioxide	increases expression	1
Tretinoin	increases expression	1
Vanadates	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1
Zinc Sulfate	increases expression	1
Palmitic Acid	increases phosphorylation	1
Lactic Acid	decreases expression	1
p-Chloromercuribenzoic Acid	decreases expression	1

Clinical trials (associated diseases)

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