SH3BP1

Summary

SH3BP1 (SH3 domain binding protein 1, HGNC:10824) is a protein-coding gene on chromosome 22q13.1, encoding SH3 domain-binding protein 1 (Q9Y3L3). GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form.

This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein’s association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues.

Source: NCBI Gene 23616 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_018957

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10824
Approved symbol	SH3BP1
Name	SH3 domain binding protein 1
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	ARHGAP43
Ensembl gene	ENSG00000100092
Ensembl biotype	protein_coding
OMIM	617368
Entrez	23616

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 non_stop_decay

ENST00000417536, ENST00000459646, ENST00000466097, ENST00000469947, ENST00000471650, ENST00000495174, ENST00000643339, ENST00000644149, ENST00000649107, ENST00000649765, ENST00000905665, ENST00000905666, ENST00000905667, ENST00000937757, ENST00000937758

RefSeq mRNA: 2 — MANE Select: NM_018957 NM_001350055, NM_018957

CCDS: CCDS13952

Canonical transcript exons

ENST00000649765 — 18 exons

Exon	Start	End
ENSE00001353432	37655272	37656117
ENSE00001745632	37641126	37641168
ENSE00003491552	37642539	37642615
ENSE00003491840	37653779	37653873
ENSE00003500154	37646818	37646929
ENSE00003538109	37647441	37647521
ENSE00003550446	37644870	37644960
ENSE00003557151	37647267	37647348
ENSE00003573861	37643644	37643788
ENSE00003584674	37642895	37643006
ENSE00003586980	37648319	37648435
ENSE00003597084	37644637	37644705
ENSE00003630874	37650542	37650725
ENSE00003638112	37650152	37650249
ENSE00003644624	37645365	37645510
ENSE00003671801	37643098	37643174
ENSE00003694414	37641374	37641478
ENSE00003834289	37639669	37639846

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 98.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5089 / max 153.4745, expressed in 1507 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192164	12.5089	1507

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.31	gold quality
monocyte	CL:0000576	97.09	gold quality
mucosa of transverse colon	UBERON:0004991	96.81	gold quality
leukocyte	CL:0000738	96.46	gold quality
mononuclear cell	CL:0000842	96.39	gold quality
lower esophagus mucosa	UBERON:0035834	96.28	gold quality
esophagus mucosa	UBERON:0002469	92.69	gold quality
skin of abdomen	UBERON:0001416	90.71	gold quality
spleen	UBERON:0002106	90.08	gold quality
skin of leg	UBERON:0001511	89.91	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.30	gold quality
transverse colon	UBERON:0001157	88.95	gold quality
rectum	UBERON:0001052	88.55	gold quality
lymph node	UBERON:0000029	88.29	gold quality
blood	UBERON:0000178	87.82	gold quality
small intestine	UBERON:0002108	87.25	gold quality
zone of skin	UBERON:0000014	86.42	gold quality
vermiform appendix	UBERON:0001154	85.32	gold quality
bone marrow cell	CL:0002092	85.16	gold quality
stromal cell of endometrium	CL:0002255	84.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.72	gold quality
gall bladder	UBERON:0002110	84.14	gold quality
vagina	UBERON:0000996	83.33	gold quality
caecum	UBERON:0001153	82.77	gold quality
upper lobe of left lung	UBERON:0008952	82.57	gold quality
colonic epithelium	UBERON:0000397	82.56	gold quality
esophagus	UBERON:0001043	82.55	gold quality
minor salivary gland	UBERON:0001830	82.38	gold quality
ectocervix	UBERON:0012249	82.09	gold quality
cerebellar hemisphere	UBERON:0002245	82.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	16.45
E-ANND-3	yes	5.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting SH3BP1, 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-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-6849-3P	97.25	64.57	1371
HSA-MIR-2355-3P	96.84	68.54	909
HSA-MIR-1233-3P	96.81	65.44	573
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-3162-5P	95.67	67.53	794
HSA-MIR-6796-5P	95.37	66.08	1120

Literature-anchored findings (GeneRIF, showing 6)

• Epithelial junction formation and morphogenesis require a dual activity complex, containing SH3BP1 and CapZ, that is recruited to sites of active membrane remodeling to guide Cdc42 signaling and cytoskeletal dynamics. (PMID:22891260)
• Splicing of SH3BP1 and CIN gene loci produces the novel brain specific splice variant BGIN. (PMID:23223568)
• The identification and characterization of SH3BP1 as a novel downstream effector of Sema3E-PlexinD1 provides an explanation for how extracellular signals are translated into cytoskeletal changes and unique cell behavior. (PMID:24841563)
• SH3BP1 promoted VEGF secretion via Rac1-WAVE2 signaling, so as to exert an augmentation on cell invasion and microvessel formation. (PMID:26933917)
• Study demonstrated a high SH3BP1 expression in cervical cancer tissues and correlated with a shorter overall survival. Its expression is even higher in cisplatin resistant cervical neoplasm tissues compared to that of the cisplatin-sensitive ones. Furthermore, SH3BP1 plays an important role in the regulation of cervical cancer cell invasion, migration, and chemoresistance through Rac1/Wav2. (PMID:28786507)
• Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia. (PMID:35352878)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sh3bp1	ENSDARG00000078119
mus_musculus	Sh3bp1	ENSMUSG00000022436
rattus_norvegicus	Sh3bp1	ENSRNOG00000009360
drosophila_melanogaster	RhoGAP92B	FBGN0038747
caenorhabditis_elegans		WBGENE00021324

Paralogs (2): ARHGAP44 (ENSG00000006740), ARHGAP17 (ENSG00000140750)

Protein

Protein identifiers

SH3 domain-binding protein 1 — Q9Y3L3 (reviewed: Q9Y3L3)

All UniProt accessions (4): Q9Y3L3, A0A2R8Y5V0, A0A2X0SFX7, A0A3B3IU28

UniProt curated annotations — full annotation on UniProt →

Function. GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration. Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions. Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment. It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells.

Subunit / interactions. Interacts with RAC1. Interacts with the exocyst via EXOC4 and EXOC8; required for the localization of both SH3BP1 and the exocyst to the leading edge of migrating cells. Interacts with CD2AP and CGNL1; probably part of a complex at cell junctions. Interacts with CAPZA1; recruits CAPZA1 to forming cell junctions. May interact with AFDN. Interacts with PLXND1; they dissociate upon SEMA3E binding to PLXND1 allowing SH3BP1 to transduce downstream signal through RAC1 inactivation. Interacts with ABL1, GRB2 and SRC (via SH3 domain).

Subcellular location. Cell projection. Cell junction. Tight junction. Adherens junction. Phagocytic cup. Nucleus. Cytoplasm. Cytosol.

Domain organisation. The BAR domain mediates interaction with the exocyst components EXOC4 and EXOC8 and is required for the function in cell migration. It also mediates the interaction with PLXND1.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y3L3-1	1	yes
Q9Y3L3-2	2
Q6ZT62-1	Long BGIN
Q6ZT62-2	Short BGIN

RefSeq proteins (2): NP_001336984, NP_061830* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR004148	BAR_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR047165	RHG17/44/SH3BP1-like	Family

Pfam: PF00620, PF03114

UniProt features (32 total): modified residue 9, compositionally biased region 8, region of interest 5, domain 2, splice variant 2, sequence variant 2, chain 1, site 1, mutagenesis site 1, short sequence motif 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4J9F	X-RAY DIFFRACTION	1.09
4J9D	X-RAY DIFFRACTION	1.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3L3-F1	72.18	0.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 312 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (9): 175, 241, 262, 264, 544, 550, 601, 626, 653

Mutagenesis-validated functional residues (1):

Position	Phenotype
312	probable loss of the gtpase activator activity. loss of function in cell migration.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013149	RAC1 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: 227 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_MONOPOLAR_CELL_POLARITY, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, LFA1_Q6, GCANCTGNY_MYOD_Q6, MODULE_45, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_16, MODULE_308, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5

GO Biological Process (16): phagocytosis, engulfment (GO:0006911), actin filament organization (GO:0007015), cell migration (GO:0016477), regulation of actin filament depolymerization (GO:0030834), regulation of actin cytoskeleton organization (GO:0032956), cell junction assembly (GO:0034329), regulation of Rac protein signal transduction (GO:0035020), regulation of blood vessel endothelial cell migration (GO:0043535), positive regulation of GTPase activity (GO:0043547), establishment of epithelial cell apical/basal polarity (GO:0045198), regulation of small GTPase mediated signal transduction (GO:0051056), negative regulation of small GTPase mediated signal transduction (GO:0051058), semaphorin-plexin signaling pathway (GO:0071526), ruffle assembly (GO:0097178), phagocytosis (GO:0006909), signal transduction (GO:0007165)

GO Molecular Function (4): GTPase activator activity (GO:0005096), SH3 domain binding (GO:0017124), semaphorin receptor binding (GO:0030215), protein binding (GO:0005515)

GO Cellular Component (12): phagocytic cup (GO:0001891), nucleus (GO:0005634), cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), lamellipodium (GO:0030027), cell leading edge (GO:0031252), exocyst (GO:0000145), cytoplasm (GO:0005737), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	1
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
actin cytoskeleton organization	2
regulation of small GTPase mediated signal transduction	2
GTPase activity	2
small GTPase-mediated signal transduction	2
phagocytosis	1
plasma membrane invagination	1
supramolecular fiber organization	1
cell motility	1
regulation of actin polymerization or depolymerization	1
actin filament depolymerization	1
regulation of protein depolymerization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
cellular component assembly	1
cell junction organization	1
Rac protein signal transduction	1
regulation of endothelial cell migration	1
blood vessel endothelial cell migration	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
polarized epithelial cell differentiation	1
establishment of apical/basal cell polarity	1
establishment or maintenance of epithelial cell apical/basal polarity	1
establishment of epithelial cell polarity	1
regulation of intracellular signal transduction	1
negative regulation of intracellular signal transduction	1
cell surface receptor signaling pathway	1
ruffle organization	1
plasma membrane bounded cell projection assembly	1
endocytosis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
enzyme activator activity	1
GTPase regulator activity	1
protein domain specific binding	1
signaling receptor binding	1

Protein interactions and networks

STRING

394 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SH3BP1	CABLES2	Q9BTV7	417
SH3BP1	SMR3B	P02814	417
SH3BP1	RAX	Q9Y2V3	396
SH3BP1	SCAF8	Q9UPN6	353
SH3BP1	ADAMTS19	Q8TE59	320
SH3BP1	SCAMP3	O14828	311
SH3BP1	PDXP	Q96GD0	254
SH3BP1	SH3BP2	P78314	248
SH3BP1	ARHGEF10	O15013	248
SH3BP1	WASF2	Q9Y6W5	235
SH3BP1	SEMA6A	Q9H2E6	228
SH3BP1	PLEKHG3	A1L390	225
SH3BP1	CHST2	Q9Y4C5	223
SH3BP1	ARHGEF12	Q9NZN5	223
SH3BP1	PLEKHG4	Q58EX7	222

IntAct

61 interactions, top by confidence:

A	B	Type	Score
EXOC8	EXOC5	psi-mi:“MI:0914”(association)	0.730
ARHGAP17	SH3BP1	psi-mi:“MI:0915”(physical association)	0.710
SH3KBP1	USP27X	psi-mi:“MI:0914”(association)	0.640
CAPZB	CNOT1	psi-mi:“MI:0914”(association)	0.640
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
TRIP10	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
SH3BP1	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
ABI2	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
ABI3	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
FGA	SH3BP1	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP44	VPS26A	psi-mi:“MI:0914”(association)	0.530
CAPZA1	CNOT1	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
KXD1	TRAK2	psi-mi:“MI:0914”(association)	0.530
SH3BP1	TERF1	psi-mi:“MI:0915”(physical association)	0.510
SH3BP1	HCK	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (61): SH3BP1 (Two-hybrid), SH3BP1 (Affinity Capture-MS), NLRP3 (Co-fractionation), NLRP4 (Co-fractionation), SH3BP1 (Co-fractionation), SH3BP1 (Co-fractionation), SH3BP1 (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), ABI3 (Two-hybrid), TRIP10 (Two-hybrid), CCDC146 (Two-hybrid)

ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SH3BP1	“down-regulates activity”	RAC1	“gtpase-activating protein”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Clathrin-mediated endocytosis	5	12.2×	4e-03
Factors involved in megakaryocyte development and platelet production	5	9.5×	7e-03
RAC1 GTPase cycle	5	8.7×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
cytoskeleton organization	6	18.5×	2e-04
endocytosis	5	11.1×	5e-03
actin cytoskeleton organization	6	11.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3072 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37639842:GGACG:G	donor_gain	1.0000
22:37639843:GACG:G	donor_gain	1.0000
22:37639843:GACGG:G	donor_gain	1.0000
22:37639844:ACG:A	donor_gain	1.0000
22:37639844:ACGGT:A	donor_loss	1.0000
22:37639845:CG:C	donor_gain	1.0000
22:37639846:GG:G	donor_gain	1.0000
22:37639847:G:GG	donor_gain	1.0000
22:37639847:GTGA:G	donor_loss	1.0000
22:37639848:T:G	donor_loss	1.0000
22:37641372:A:AC	acceptor_loss	1.0000
22:37641372:A:AG	acceptor_gain	1.0000
22:37641373:G:GA	acceptor_gain	1.0000
22:37641373:GGT:G	acceptor_gain	1.0000
22:37641373:GGTA:G	acceptor_gain	1.0000
22:37641474:GGGTG:G	donor_gain	1.0000
22:37641475:GGTGG:G	donor_gain	1.0000
22:37641476:GTG:G	donor_gain	1.0000
22:37642535:GCAG:G	acceptor_loss	1.0000
22:37642536:CA:C	acceptor_loss	1.0000
22:37642537:A:AG	acceptor_gain	1.0000
22:37642537:AG:A	acceptor_loss	1.0000
22:37642538:G:GA	acceptor_gain	1.0000
22:37642538:GAA:G	acceptor_gain	1.0000
22:37642613:GGG:G	donor_gain	1.0000
22:37642614:GGG:G	donor_gain	1.0000
22:37642890:CACAG:C	acceptor_loss	1.0000
22:37642891:ACAG:A	acceptor_loss	1.0000
22:37642893:A:AG	acceptor_gain	1.0000
22:37642894:G:GG	acceptor_gain	1.0000

AlphaMissense

4529 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:37641429:T:C	L53P	0.999
22:37644656:T:C	L213P	0.999
22:37644885:G:C	A235P	0.999
22:37646827:C:A	R312S	0.999
22:37647275:A:G	K349E	0.999
22:37647277:G:C	K349N	0.999
22:37647277:G:T	K349N	0.999
22:37648372:T:C	M418T	0.999
22:37648390:C:A	A424D	0.999
22:37648393:T:A	I425K	0.999
22:37648396:T:A	V426D	0.999
22:37641424:G:C	K51N	0.998
22:37641424:G:T	K51N	0.998
22:37642546:T:C	L72P	0.998
22:37643135:T:C	L145P	0.998
22:37646825:T:C	F311S	0.998
22:37646827:C:G	R312G	0.998
22:37647273:T:C	L348P	0.998
22:37647281:T:G	Y351D	0.998
22:37647285:T:C	L352P	0.998
22:37647288:G:C	R353P	0.998
22:37647332:T:A	W368R	0.998
22:37647332:T:C	W368R	0.998
22:37648372:T:G	M418R	0.998
22:37648373:G:A	M418I	0.998
22:37648373:G:C	M418I	0.998
22:37648373:G:T	M418I	0.998
22:37648385:C:A	N422K	0.998
22:37648385:C:G	N422K	0.998
22:37641400:G:C	K43N	0.997

dbSNP variants (sampled 300 via entrez): RS1000079638 (22:37642824 G>A,T), RS1000128341 (22:37640816 G>A,C), RS1000396072 (22:37651668 C>T), RS1000802436 (22:37649500 T>C), RS1000829990 (22:37641546 G>A), RS1000909381 (22:37647740 G>A), RS1001183503 (22:37641237 C>G,T), RS1001519310 (22:37652238 A>G), RS1001573017 (22:37652086 G>A), RS1001779724 (22:37646738 C>A,G,T), RS1002192240 (22:37642478 G>A), RS1002260964 (22:37642220 C>T), RS1002522155 (22:37653779 G>A,T), RS1002574546 (22:37653478 C>G,T), RS1002585845 (22:37653258 G>A)

Disease associations

OMIM: gene MIM:617368 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diazinon	increases methylation	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Rotenone	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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