SWAP70

Summary

SWAP70 (switching B cell complex subunit SWAP70, HGNC:17070) is a protein-coding gene on chromosome 11p15.4, encoding Switch-associated protein 70 (Q9UH65). Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC.

Enables cadherin binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. Is active in postsynapse.

Source: NCBI Gene 23075 — RefSeq curated summary.

At a glance

• GWAS associations: 50
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_015055

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17070
Approved symbol	SWAP70
Name	switching B cell complex subunit SWAP70
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0640, SWAP-70
Ensembl gene	ENSG00000133789
Ensembl biotype	protein_coding
OMIM	604762
Entrez	23075

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000318950, ENST00000447399, ENST00000524817, ENST00000526358, ENST00000531814, ENST00000534562, ENST00000534662, ENST00000868908, ENST00000868909, ENST00000868910, ENST00000868911, ENST00000966579, ENST00000966580

RefSeq mRNA: 2 — MANE Select: NM_015055 NM_001297714, NM_015055

CCDS: CCDS31426, CCDS73257

Canonical transcript exons

ENST00000318950 — 12 exons

Exon	Start	End
ENSE00000889942	9740181	9740347
ENSE00001219908	9749864	9752993
ENSE00001319253	9747858	9748056
ENSE00001321762	9749087	9749183
ENSE00002163255	9664077	9664278
ENSE00003477194	9732529	9732710
ENSE00003497127	9713466	9713639
ENSE00003507120	9724658	9724885
ENSE00003560388	9694146	9694286
ENSE00003580699	9729343	9729451
ENSE00003604466	9738213	9738320
ENSE00003621801	9728053	9728199

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7163 / max 256.2403, expressed in 1756 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113001	18.2759	1753
113005	0.7144	386
113006	0.4174	180
113004	0.2783	105
113008	0.0303	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.46	gold quality
amniotic fluid	UBERON:0000173	96.76	gold quality
blood vessel layer	UBERON:0004797	95.31	gold quality
sural nerve	UBERON:0015488	95.26	gold quality
visceral pleura	UBERON:0002401	95.23	gold quality
cartilage tissue	UBERON:0002418	95.23	gold quality
lower lobe of lung	UBERON:0008949	94.91	gold quality
parietal pleura	UBERON:0002400	94.68	gold quality
pleura	UBERON:0000977	94.52	gold quality
epithelium of nasopharynx	UBERON:0001951	94.24	gold quality
palpebral conjunctiva	UBERON:0001812	94.23	gold quality
tibia	UBERON:0000979	94.06	gold quality
placenta	UBERON:0001987	94.05	gold quality
lymph node	UBERON:0000029	93.79	gold quality
vermiform appendix	UBERON:0001154	93.79	gold quality
superficial temporal artery	UBERON:0001614	93.70	gold quality
skin of hip	UBERON:0001554	93.45	gold quality
oral cavity	UBERON:0000167	93.35	gold quality
synovial joint	UBERON:0002217	93.11	gold quality
tonsil	UBERON:0002372	93.06	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.70	gold quality
caecum	UBERON:0001153	92.43	gold quality
omental fat pad	UBERON:0010414	92.19	gold quality
peritoneum	UBERON:0002358	92.16	gold quality
colonic epithelium	UBERON:0000397	92.15	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.09	gold quality
thoracic mammary gland	UBERON:0005200	92.00	gold quality
mammary gland	UBERON:0001911	91.95	gold quality
adipose tissue	UBERON:0001013	91.93	gold quality
connective tissue	UBERON:0002384	91.84	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	101.32
E-GEOD-135922	yes	37.69
E-MTAB-9467	yes	23.84
E-ANND-3	yes	21.47
E-MTAB-9221	yes	19.83
E-CURD-112	yes	12.59
E-MTAB-8498	yes	8.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting SWAP70, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-205-3P	99.92	69.92	3165

Literature-anchored findings (GeneRIF, showing 17)

• protein that functions as the only B cell-specific component of an isotype switch recombination (PMID:11726218)
• Overexpression of SWAP-70 altered the actin organization and lamellipodial morphology (PMID:12925760)
• the binding activity of SWAP-70 to non-muscle F-actin is required for membrane ruffling. (PMID:16418221)
• surface expression of SWAP-70 on HIV-1 infected cells as well as PBMCs; SWAP-70 may serve as a marker for T cell differentiation as well as for HIV-1 infection (PMID:16547421)
• SWAP-70 may be involved in regulating migration and invasion of trophoblast cells during the processes of embryonic implantation and placentation in primates. (PMID:17371938)
• SWAP70 may be a target of miR-145, and it might have a potential oncogenic function. (PMID:21360565)
• findings suggest that regulation of eosinophil trafficking and migration by SWAP-70 is important for the development of eosinophilic inflammation after allergen exposure (PMID:22210919)
• The unwinding of the C-terminal alpha-helix could regulate the functions of SWAP-70 at the plasma membrane surface. (PMID:22247562)
• Detection of SWAP70 antibodies during the attack period might suggest that SWAP70 is involved in Multiple Sclerosis relapse pathogenesis (PMID:22728961)
• SWAP70 appears to act as a molecular intermediate between vGPCR and endothelial activation. (PMID:25889342)
• Expression of switch-associated protein 70 is associated with lymphocyte activation and reduced disability in multiple sclerosis. (PMID:27495372)
• These data show a key role for SWAP70 as a scaffold for tethering the peripheral actin cage to phagosomes. (PMID:27806292)
• Data support an essential and specific role for SWAP70 in tethering and stabilizing F-actin to the phagosomal surface in a wide range of phagocytes. (PMID:28489960)
• Results show that SWAP70 regulates lamellipodia. SWAP70 undergoes conformational regulation at the leading edge of migratory glioma cell line. (PMID:30636036)
• Mechanism of control of F-actin cortex architecture by SWAP-70. (PMID:31932501)
• SWAP70 Overexpression Protects Against Pathological Cardiac Hypertrophy in a TAK1-Dependent Manner. (PMID:36974751)
• The F-actin bundler SWAP-70 promotes tumor metastasis. (PMID:38760173)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	swap70a	ENSDARG00000051819
danio_rerio	swap70b	ENSDARG00000057286
mus_musculus	Swap70	ENSMUSG00000031015
rattus_norvegicus	Swap70	ENSRNOG00000009910
caenorhabditis_elegans		WBGENE00009292

Paralogs (2): DEF6 (ENSG00000023892), PLEKHD1 (ENSG00000175985)

Protein

Protein identifiers

Switch-associated protein 70 — Q9UH65 (reviewed: Q9UH65)

All UniProt accessions (5): E7EMB1, E9PJK8, E9PJM7, Q9UH65, H0YDK5

UniProt curated annotations — full annotation on UniProt →

Function. Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion.

Subunit / interactions. The SWAP complex consists of NPM1, NCL, PARP1 and SWAP70.

Subcellular location. Cytoplasm. Cell membrane. Nucleus. Cell projection. Lamellipodium. Cytoskeleton.

Tissue specificity. Expressed only in mature B-cells including those associated with mucosa-associated tissue and bronchus-associated tissue. Widely expressed. Abundant in spleen, and fairly abundant in kidney, lung and liver. Also found in monocytes and macrophages.

Post-translational modifications. Tyrosine-phosphorylated.

Domain organisation. The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.

RefSeq proteins (2): NP_001284643, NP_055870* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR057836	EF-hand_SWAP70_N	Domain
IPR057837	PH_SWAP70	Domain

Pfam: PF00169, PF25530

UniProt features (18 total): strand 7, mutagenesis site 4, sequence variant 2, chain 1, domain 1, helix 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DN6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UH65-F1	81.85	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.

Mutagenesis-validated functional residues (4):

Position	Phenotype
223–224	abolishes binding to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid and the localization to the loose actin
230	reduced binding to phosphatidylinositol 3,4-bisphosphate and reduced association with actin filament.
297	abolishes binding to plasma membrane.
526–585	affects targeting to loose actin filament arrays.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 386 (showing top): MYAATNNNNNNNGGC_UNKNOWN, MODULE_52, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_B_CELL_ACTIVATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, TAL1ALPHAE47_01

GO Biological Process (11): positive regulation of cytosolic calcium ion concentration (GO:0007204), negative regulation of actin filament depolymerization (GO:0030835), positive regulation of actin filament bundle assembly (GO:0032233), regulation of protein localization (GO:0032880), negative regulation of cell-cell adhesion mediated by integrin (GO:0033633), isotype switching (GO:0045190), actin filament bundle assembly (GO:0051017), regulation of small GTPase mediated signal transduction (GO:0051056), positive regulation of mast cell chemotaxis (GO:0060754), regulation of actin polymerization or depolymerization (GO:0008064), somatic cell DNA recombination (GO:0016444)

GO Molecular Function (6): DNA binding (GO:0003677), guanyl-nucleotide exchange factor activity (GO:0005085), calcium ion binding (GO:0005509), ATP binding (GO:0005524), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), lamellipodium (GO:0030027), postsynapse (GO:0098794), cytoskeleton (GO:0005856), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	3
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
regulation of biological quality	1
actin filament depolymerization	1
regulation of actin filament depolymerization	1
negative regulation of cytoskeleton organization	1
negative regulation of protein depolymerization	1
negative regulation of supramolecular fiber organization	1
regulation of actin filament bundle assembly	1
positive regulation of cellular component biogenesis	1
actin filament bundle assembly	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
intracellular protein localization	1
regulation of localization	1
negative regulation of cell-cell adhesion	1
negative regulation of cell adhesion mediated by integrin	1
cell-cell adhesion mediated by integrin	1
regulation of cell-cell adhesion mediated by integrin	1
somatic recombination of immunoglobulin genes involved in immune response	1
B cell activation involved in immune response	1
cellular component assembly	1
actin filament bundle organization	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
mast cell chemotaxis	1
positive regulation of leukocyte chemotaxis	1
regulation of mast cell chemotaxis	1
actin polymerization or depolymerization	1
regulation of actin filament length	1
regulation of actin filament organization	1
DNA recombination	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cell adhesion molecule binding	1
binding	1

Protein interactions and networks

STRING

704 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SWAP70	IRF4	Q15306	611
SWAP70	CD79B	P40259	600
SWAP70	AKT1	P31749	594
SWAP70	CD79A	P11912	577
SWAP70	BRK1	Q8WUW1	566
SWAP70	ADISSP	Q9GZN8	548
SWAP70	SEC24C	P53992	499
SWAP70	SELL	P14151	498
SWAP70	MCF2	P10911	479
SWAP70	ITGAL	P20701	476
SWAP70	HIP1R	O75146	469
SWAP70	JCAD	Q9P266	460
SWAP70	TPM3	P06753	450
SWAP70	CPNE1	Q99829	447
SWAP70	ITGB2	P05107	429

IntAct

37 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAPGEF4	SWAP70	psi-mi:“MI:0915”(physical association)	0.670
SWAP70	ZBTB5	psi-mi:“MI:0915”(physical association)	0.560
ZBTB5	SWAP70	psi-mi:“MI:0915”(physical association)	0.560
SARS1	SWAP70	psi-mi:“MI:0915”(physical association)	0.560
SLC16A1	SWAP70	psi-mi:“MI:0915”(physical association)	0.560
GSK3B	SEC16A	psi-mi:“MI:2364”(proximity)	0.420
SWAP70	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
SWAP70	Itga7	psi-mi:“MI:0915”(physical association)	0.370
CELSR3	SWAP70	psi-mi:“MI:0915”(physical association)	0.370
AXL	PIK3R2	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
SWAP70	PTK2	psi-mi:“MI:0914”(association)	0.350
TMEM263	TBCE	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
ITM2C	UBA6	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
SCLT1	VWA8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (85): SWAP70 (Two-hybrid), NAA20 (Co-fractionation), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), SWAP70 (Affinity Capture-RNA), SWAP70 (Affinity Capture-MS), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), SWAP70 (Proximity Label-MS), NPM1 (Co-purification), NCL (Co-purification), PARP1 (Co-purification)

ESM2 similar proteins: A1A600, A2AUM9, A6NEE1, A6NI79, A6PWD2, B1A193, B1WBU8, B2RPU2, E9Q9R9, G9G127, O35550, O35551, P0C1G6, P0CB05, Q15276, Q155Q3, Q3UP38, Q3UPP8, Q4KLY0, Q4R703, Q502I3, Q5F4B2, Q5VU43, Q61043, Q66KE8, Q6A028, Q6P0R8, Q6P132, Q6P402, Q6PA69, Q7SYB5, Q80UF4, Q80YT7, Q86SQ7, Q8C2K1, Q8CFC9, Q8CJ96, Q8K342, Q8N4C6, Q8TDM6

Diamond homologs: A2CEA7, A7KAN4, B6RSP1, D3ZL52, I1S8Q3, O08967, O14827, O43739, P0CN90, P0CN91, P27671, P28818, P42331, P60669, P63034, P63035, P70392, P97696, Q13972, Q14B98, Q1RMU7, Q1ZXL0, Q2U0C3, Q5U2Z7, Q5ZLT5, Q6ICB4, Q6P0G8, Q6P4L6, Q76MY7, Q7Z5H3, Q801R7, Q80YW0, Q86IV4, Q8BH49, Q8BIK4, Q8BL80, Q8BUL6, Q8BYW1, Q8C4V1, Q8N264

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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
response to endoplasmic reticulum stress	5	26.9×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1733 predictions. Top by Δscore:

Variant	Effect	Δscore
11:9664275:CAAG:C	donor_loss	1.0000
11:9664276:AAG:A	donor_loss	1.0000
11:9664277:AG:A	donor_loss	1.0000
11:9664278:GG:G	donor_loss	1.0000
11:9664279:GTGG:G	donor_loss	1.0000
11:9694140:TTGCA:T	acceptor_loss	1.0000
11:9694141:TGCA:T	acceptor_loss	1.0000
11:9694142:GCA:G	acceptor_loss	1.0000
11:9694143:CA:C	acceptor_loss	1.0000
11:9694144:A:AT	acceptor_loss	1.0000
11:9694145:GGTC:G	acceptor_gain	1.0000
11:9694284:AAG:A	donor_loss	1.0000
11:9694285:AG:A	donor_loss	1.0000
11:9694286:GG:G	donor_loss	1.0000
11:9694287:GTATG:G	donor_loss	1.0000
11:9694288:T:G	donor_loss	1.0000
11:9703528:G:T	donor_gain	1.0000
11:9724653:TGTA:T	acceptor_loss	1.0000
11:9724655:TA:T	acceptor_loss	1.0000
11:9724656:A:AG	acceptor_gain	1.0000
11:9724656:AGATT:A	acceptor_gain	1.0000
11:9724657:G:GC	acceptor_gain	1.0000
11:9724657:GA:G	acceptor_gain	1.0000
11:9724657:GAT:G	acceptor_gain	1.0000
11:9724657:GATT:G	acceptor_gain	1.0000
11:9724657:GATTG:G	acceptor_gain	1.0000
11:9724847:G:GT	donor_gain	1.0000
11:9724882:GCAG:G	donor_gain	1.0000
11:9724885:GGTAA:G	donor_loss	1.0000
11:9724886:G:GG	donor_gain	1.0000

AlphaMissense

3905 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:9664225:T:C	F16L	1.000
11:9664227:C:A	F16L	1.000
11:9664227:C:G	F16L	1.000
11:9664266:G:C	K29N	1.000
11:9664266:G:T	K29N	1.000
11:9664274:T:A	L32H	1.000
11:9664274:T:C	L32P	1.000
11:9694212:T:C	F56L	1.000
11:9694214:C:A	F56L	1.000
11:9694214:C:G	F56L	1.000
11:9729442:T:A	W297R	1.000
11:9729442:T:C	W297R	1.000
11:9664235:T:A	L19H	0.999
11:9664235:T:C	L19P	0.999
11:9664259:T:A	V27D	0.999
11:9664264:A:G	K29E	0.999
11:9664273:C:T	L32F	0.999
11:9664278:G:C	K33N	0.999
11:9664278:G:T	K33N	0.999
11:9694150:T:C	L35P	0.999
11:9694152:T:C	S36P	0.999
11:9694153:C:T	S36F	0.999
11:9694162:T:C	L39P	0.999
11:9694213:T:C	F56S	0.999
11:9694251:T:C	Y69H	0.999
11:9694260:T:G	Y72D	0.999
11:9694264:T:C	L73S	0.999
11:9713505:T:C	C94R	0.999
11:9713507:T:G	C94W	0.999
11:9713508:T:A	W95R	0.999

dbSNP variants (sampled 300 via entrez): RS1000018905 (11:9701296 C>A,G,T), RS1000035967 (11:9669081 CTGAG>C), RS1000102736 (11:9670433 A>G), RS1000149433 (11:9743872 A>G), RS1000155862 (11:9701452 G>A), RS1000235856 (11:9725787 G>T), RS1000236628 (11:9685145 C>G,T), RS1000266487 (11:9707291 A>G), RS1000268291 (11:9678917 C>A), RS1000298754 (11:9718082 A>G), RS1000302865 (11:9675470 A>G), RS1000325400 (11:9741353 C>T), RS1000331441 (11:9719477 G>A,C,T), RS1000342385 (11:9723934 G>C), RS1000408549 (11:9669384 C>T)

Disease associations

OMIM: gene MIM:604762 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

50 associations (top):

Study	Trait	p-value
GCST003116_10	Coronary artery disease	1.000000e-08
GCST004605_49	Mean corpuscular hemoglobin concentration	5.000000e-11
GCST004612_114	High light scatter reticulocyte percentage of red cells	4.000000e-09
GCST004616_85	Platelet distribution width	9.000000e-11
GCST004619_112	Reticulocyte fraction of red cells	9.000000e-14
GCST004622_33	Reticulocyte count	1.000000e-12
GCST004777_23	Diastolic blood pressure	2.000000e-07
GCST004777_67	Diastolic blood pressure	1.000000e-14
GCST004787_24	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	7.000000e-09
GCST005194_96	Coronary artery disease	3.000000e-11
GCST005195_29	Coronary artery disease	6.000000e-12
GCST005196_44	Coronary artery disease	9.000000e-13
GCST006010_14	Mean arterial pressure	2.000000e-08
GCST006011_29	Mean corpuscular volume	5.000000e-09
GCST006585_2535	Blood protein levels	9.000000e-33
GCST006630_26	Diastolic blood pressure	3.000000e-36
GCST007094_8	Diastolic blood pressure	5.000000e-12
GCST007095_113	Systolic blood pressure	6.000000e-07
GCST007096_243	Pulse pressure	7.000000e-07
GCST007099_180	Systolic blood pressure	1.000000e-14
GCST007267_62	Systolic blood pressure	2.000000e-14
GCST007703_110	Systolic blood pressure	4.000000e-06
GCST007703_94	Systolic blood pressure	2.000000e-08
GCST007704_36	Diastolic blood pressure	6.000000e-08
GCST007704_79	Diastolic blood pressure	3.000000e-12
GCST007706_147	Mean arterial pressure	7.000000e-06
GCST007706_32	Mean arterial pressure	3.000000e-14
GCST007706_86	Mean arterial pressure	4.000000e-09
GCST007707_39	Hypertension	9.000000e-09
GCST007707_53	Hypertension	4.000000e-08

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007986	reticulocyte count
EFO:0007984	platelet component distribution width
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0009928	Diuretic use measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009473	hemolysis
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
methylmercuric chloride	decreases expression	2
cobaltous chloride	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Cisplatin	increases expression, affects response to substance	2
Doxorubicin	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, affects methylation	1
sodium arsenate	increases abundance, increases expression	1
kojic acid	increases expression	1
trichostatin A	affects expression	1
tetrahydropalmatine	increases expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	decreases 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, increases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
bisphenol AF	increases expression	1
Decitabine	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects methylation, decreases methylation, affects cotreatment	1

Clinical trials (associated diseases)

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