SORBS3

Summary

SORBS3 (sorbin and SH3 domain containing 3, HGNC:30907) is a protein-coding gene on chromosome 8p21.3, encoding Vinexin (O60504). Vinexin alpha isoform promotes up-regulation of actin stress fiber formation.

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein’s ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10174 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 192 total
• MANE Select transcript: NM_005775

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30907
Approved symbol	SORBS3
Name	sorbin and SH3 domain containing 3
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	SCAM-1, SH3D4, vinexin
Ensembl gene	ENSG00000120896
Ensembl biotype	protein_coding
OMIM	610795
Entrez	10174

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 11 protein_coding, 7 retained_intron, 7 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000240123, ENST00000517500, ENST00000517535, ENST00000517962, ENST00000518512, ENST00000519127, ENST00000519453, ENST00000520207, ENST00000520563, ENST00000520574, ENST00000521554, ENST00000521787, ENST00000522037, ENST00000522315, ENST00000522721, ENST00000523348, ENST00000523402, ENST00000523740, ENST00000523900, ENST00000523941, ENST00000523965, ENST00000524057, ENST00000897778, ENST00000897779, ENST00000897780, ENST00000897781

RefSeq mRNA: 2 — MANE Select: NM_005775 NM_001018003, NM_005775

CCDS: CCDS47824, CCDS6031

Canonical transcript exons

ENST00000240123 — 21 exons

Exon	Start	End
ENSE00002100276	22574667	22575788
ENSE00002128465	22551927	22552022
ENSE00003471627	22565268	22565354
ENSE00003479350	22564283	22564369
ENSE00003481948	22565826	22565872
ENSE00003487137	22563987	22564077
ENSE00003499886	22554863	22554980
ENSE00003500052	22569148	22569273
ENSE00003510096	22566822	22566868
ENSE00003518893	22561335	22561373
ENSE00003538919	22561865	22561931
ENSE00003539210	22564468	22564521
ENSE00003539508	22572340	22572446
ENSE00003539804	22566345	22566484
ENSE00003577689	22566661	22566713
ENSE00003585234	22556715	22556908
ENSE00003596387	22570910	22571221
ENSE00003607151	22554452	22554608
ENSE00003671323	22558129	22558192
ENSE00003672560	22567061	22567175
ENSE00003791587	22571718	22571821

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.9188 / max 561.1482, expressed in 1791 samples.

FANTOM5 promoters (40 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87805	34.2214	1665
87786	8.4651	801
87807	5.2597	1291
87804	3.2957	1276
87803	2.9602	1127
87813	1.8667	1059
87808	1.3549	760
87801	1.3327	611
87812	1.2599	779
87780	1.1267	406

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.45	gold quality
left testis	UBERON:0004533	99.43	gold quality
right coronary artery	UBERON:0001625	99.30	gold quality
popliteal artery	UBERON:0002250	99.29	gold quality
tibial artery	UBERON:0007610	99.29	gold quality
peripheral nervous system	UBERON:0000010	99.22	gold quality
nerve	UBERON:0001021	99.22	gold quality
tibial nerve	UBERON:0001323	99.22	gold quality
mucosa of stomach	UBERON:0001199	99.15	gold quality
endocervix	UBERON:0000458	99.10	gold quality
left coronary artery	UBERON:0001626	99.10	gold quality
aorta	UBERON:0000947	99.08	gold quality
coronary artery	UBERON:0001621	98.93	gold quality
ascending aorta	UBERON:0001496	98.91	gold quality
thoracic aorta	UBERON:0001515	98.91	gold quality
descending thoracic aorta	UBERON:0002345	98.89	gold quality
body of uterus	UBERON:0009853	98.82	gold quality
apex of heart	UBERON:0002098	98.71	gold quality
right lung	UBERON:0002167	98.68	gold quality
left uterine tube	UBERON:0001303	98.67	gold quality
right ovary	UBERON:0002118	98.52	gold quality
ectocervix	UBERON:0012249	98.49	gold quality
left ovary	UBERON:0002119	98.48	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.39	gold quality
right lobe of thyroid gland	UBERON:0001119	98.38	gold quality
lower esophagus	UBERON:0013473	98.38	gold quality
upper lobe of left lung	UBERON:0008952	98.37	gold quality
skin of leg	UBERON:0001511	98.33	gold quality
omental fat pad	UBERON:0010414	98.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.96

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TBX20

miRNA regulators (miRDB)

54 targeting SORBS3, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632

Literature-anchored findings (GeneRIF, showing 15)

• regulates cytoskeletal organization and signal transduction–review (PMID:12510380)
• vinexin is a novel substrate of ERK2 and may play roles in ERK-dependent cell regulation (PMID:15184391)
• phosphorylation of the AF-1 domain controls RARgamma-mediated transcription through triggering the dissociation of vinexin beta (PMID:15734736)
• These results suggest that vinexin beta plays a role in maintaining the phosphorylation of EGFR on the plasma membrane through the regulation of c-Cbl. (PMID:16923119)
• Vinexin is enriched at the leading edge of migrating cells, lamellipodia and and focal adhesions in well-spread cells. (PMID:17486060)
• Rhotekin forms a complex with vinexin and may play a role at focal adhesions. (PMID:19294487)
• Vinexin knockdown using siRNA delayed migration of both HaCaT human keratinocytes and A431 epidermoid carcinoma cells in scratch assay but did not affect cell proliferation. (PMID:20361963)
• Our findings revealed that Vinexin-beta acts as a novel modulator of ischaemic injury (PMID:25824575)
• Taken together, the findings suggest that vinexin beta modulates NS5A phosphorylation via its interaction with NS5A, thereby regulating hepatitis C virus replication, implicating vinexin beta in the viral life cycle. (PMID:25972535)
• The chromosome 8p tumor suppressor genes SORBS3 and SH2D4A are physically and functionally linked and provide a molecular mechanism of inhibiting STAT3-mediated IL-6 signaling in hepatocellular carcinoma cells. (PMID:27311882)
• Study identified possible epigenetic influence on differential gene expression in SORBS3 under obese conditions. (PMID:27437034)
• Vinexin beta deficiency attenuates atherogenesis primarily by suppressing vascular inflammation and inactivating Akt-nuclear factor kappaB signaling. Our data suggest that vinexin beta could be a therapeutic target for the treatment of atherosclerosis. (PMID:28209562)
• Vinexin contributes to autophagic decline in brain ageing across species. (PMID:34848853)
• Increased SORBS3 expression in brain ageing contributes to autophagic decline via YAP1-WWTR1/TAZ signaling. (PMID:35822241)
• UBE2T mediates SORBS3 ubiquitination to enhance IL-6/STAT3 signaling and promote lung adenocarcinoma progression. (PMID:38816989)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	sorbs3	ENSDARG00000037476
mus_musculus	Sorbs3	ENSMUSG00000022091
rattus_norvegicus	Sorbs3	ENSRNOG00000008829
drosophila_melanogaster	Dlish	FBGN0034264
drosophila_melanogaster	EndoB	FBGN0034433
caenorhabditis_elegans		WBGENE00001335
caenorhabditis_elegans		WBGENE00012891
caenorhabditis_elegans		WBGENE00015128

Paralogs (12): SORBS1 (ENSG00000095637), SH3GLB1 (ENSG00000097033), NCF4 (ENSG00000100365), SH3GL2 (ENSG00000107295), SH3D19 (ENSG00000109686), SH3GL3 (ENSG00000140600), SH3GL1 (ENSG00000141985), SH3GLB2 (ENSG00000148341), SH3RF1 (ENSG00000154447), SORBS2 (ENSG00000154556), SH3RF2 (ENSG00000156463), SH3RF3 (ENSG00000172985)

Protein

Protein identifiers

Vinexin — O60504 (reviewed: O60504)

Alternative names: SH3-containing adapter molecule 1, Sorbin and SH3 domain-containing protein 3

All UniProt accessions (7): E5RIA0, E5RJP2, E7EQH0, O60504, H0YAU6, H0YAZ3, H0YB51

UniProt curated annotations — full annotation on UniProt →

Function. Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain.

Subunit / interactions. Interacts with DLG5 through its third SH3 domain. Interacts with vinculin by the first two SH3 domains and the proline rich region of vinculin. Binds to SOS (guanine nucleotide exchange factor of RAS and RAC), through its third SH3 domain. The formation of this complex is down-regulated by phosphorylation of SOS. Interacts with INPPL1/SHIP2, SAFB2, SOCS7 and SRCIN1. Interacts with FASLG. Interacts with MAPK1/ERK2.

Subcellular location. Cell junction. Cytoplasm. Cytoskeleton Cell junction. Nucleus. Cytoskeleton.

Tissue specificity. Both isoforms are expressed in different tissues like heart, placenta, brain, skeletal muscle and pancreas. Isoform beta is especially found in liver.

Post-translational modifications. Phosphorylated at Ser-530 by MAPK1/ERK2 during cell spreading.

Isoforms (2)

UniProt ID	Names	Canonical?
O60504-1	Alpha	yes
O60504-2	Beta

RefSeq proteins (2): NP_001018003, NP_005766* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR003127	SoHo_dom	Domain
IPR035607	Vinexin_SH3_3	Domain
IPR035608	Vinexin_SH3_2	Domain
IPR035609	Vinexin_SH3_1	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR050384	Endophilin_SH3RF	Family

Pfam: PF00018, PF02208, PF14604

UniProt features (56 total): strand 17, modified residue 10, region of interest 8, domain 4, compositionally biased region 4, sequence variant 3, mutagenesis site 2, helix 2, turn 2, chain 1, splice variant 1, sequence conflict 1, initiator methionine 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
2CT3	SOLUTION NMR
2DLM	SOLUTION NMR
2NWM	SOLUTION NMR
2YUP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60504-F1	57.51	0.19

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 (10): 348, 395, 530, 544, 545, 547, 551, 563, 2, 6

Mutagenesis-validated functional residues (2):

Position	Phenotype
649	loss of sos-binding ability.
667	loss of sos-binding ability.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-445355	Smooth Muscle Contraction

MSigDB gene sets: 182 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, AMIT_SERUM_RESPONSE_20_MCF10A, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, chr8p21, LOPES_METHYLATED_IN_COLON_CANCER_DN, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, TGACATY_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), MAPK cascade (GO:0000165), cell adhesion (GO:0007155), cell-substrate adhesion (GO:0031589), positive regulation of MAPK cascade (GO:0043410), positive regulation of cytoskeleton organization (GO:0051495), positive regulation of stress fiber assembly (GO:0051496), cytoskeleton organization (GO:0007010)

GO Molecular Function (3): structural constituent of cytoskeleton (GO:0005200), vinculin binding (GO:0017166), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), focal adhesion (GO:0005925), cell-substrate junction (GO:0030055), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
intracellular signaling cassette	1
cellular process	1
cell adhesion	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
positive regulation of organelle organization	1
regulation of cytoskeleton organization	1
positive regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
organelle organization	1
structural molecule activity	1
cytoskeleton	1
cytoskeletal protein binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
cell-substrate junction	1
anchoring junction	1
cell junction	1

Protein interactions and networks

STRING

976 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SORBS3	VCL	P18206	993
SORBS3	DLG5	Q8TDM6	888
SORBS3	SAFB2	Q14151	844
SORBS3	TLN1	Q9Y490	735
SORBS3	SAFB	Q15424	730
SORBS3	TLN2	Q9Y4G6	667
SORBS3	VASP	P50552	655
SORBS3	MPP1	Q00013	648
SORBS3	CTNNB1	P35222	646
SORBS3	PXN	P49023	620
SORBS3	CBL	P22681	602
SORBS3	BCAR1	P56945	595
SORBS3	AFDN	P55196	501
SORBS3	SPTBN4	Q9H254	493
SORBS3	TBXA2R	P21731	482

IntAct

411 interactions, top by confidence:

A	B	Type	Score
PAK2	SORBS3	psi-mi:“MI:0915”(physical association)	0.770
VPS37C	SORBS3	psi-mi:“MI:0915”(physical association)	0.720
TRIM23	SORBS3	psi-mi:“MI:0915”(physical association)	0.720
SORBS3	CPNE2	psi-mi:“MI:0915”(physical association)	0.720
SORBS3	SH2D4A	psi-mi:“MI:0915”(physical association)	0.720
SORBS3	TRIM23	psi-mi:“MI:0915”(physical association)	0.720
CPNE2	SORBS3	psi-mi:“MI:0915”(physical association)	0.720
KIAA0408	SORBS3	psi-mi:“MI:0915”(physical association)	0.670
HNRNPK	SORBS3	psi-mi:“MI:0915”(physical association)	0.670
TBC1D22B	SORBS3	psi-mi:“MI:0915”(physical association)	0.670
SORBS3	KIAA0408	psi-mi:“MI:0915”(physical association)	0.670
SORBS3	HNRNPK	psi-mi:“MI:0915”(physical association)	0.670
SORBS3	TBC1D22B	psi-mi:“MI:0915”(physical association)	0.670
SORBS3	SAXO1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB7B	SORBS3	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	SORBS3	psi-mi:“MI:0915”(physical association)	0.560
PAK5	SORBS3	psi-mi:“MI:0915”(physical association)	0.560
TRIM41	SORBS3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (214): SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), SORBS3 (Two-hybrid), HNRNPUL1 (Two-hybrid), DIP2A (Two-hybrid), ZBTB7B (Two-hybrid), NCKIPSD (Two-hybrid), VPS37C (Two-hybrid), TBC1D22B (Two-hybrid), ZC4H2 (Two-hybrid), PAK7 (Two-hybrid)

ESM2 similar proteins: A0A1L8H8C0, A0A1L8HFX9, A2CEX1, A2RUV4, A4V8B4, A8XU52, C5DGS4, C5DT56, E7KIY3, E9QDC5, F1QPR4, G5EEK3, H2L045, O60504, P27715, Q02645, Q02831, Q11181, Q32NM7, Q3U5C7, Q571K4, Q5T5U3, Q5U303, Q60JJ0, Q6DFG0, Q6DFV3, Q71H61, Q71M21, Q71QF9, Q7Z3G6, Q7ZXH3, Q80Y24, Q86SQ0, Q8BRG8, Q8K1N2, Q8N5C8, Q8NEY8, Q8VEB2, Q96MT3, Q96SK2

Diamond homologs: A1CEK6, A1DFN5, A1DFP5, A2QW93, A2QWA2, A3LXQ8, A4FU49, A4RF61, A6QLK6, A7A261, B0BNA1, F4KAU9, O08641, O14964, O35179, O35180, O35413, O35964, O43125, O60504, O74749, O80910, O94875, P07751, P0CR78, P0CR79, P10569, P19878, P29355, P38753, P62993, P62994, P87379, Q06449, Q07883, Q08012, Q0CJU8, Q0CJV3, Q0U4Z8, Q0U6X7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
MAPK1	unknown	SORBS3	phosphorylation
ABL1	“up-regulates activity”	SORBS3	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	140
Likely benign	11
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

3203 predictions. Top by Δscore:

Variant	Effect	Δscore
8:22554607:GG:G	donor_gain	1.0000
8:22554608:GG:G	donor_gain	1.0000
8:22554613:G:GG	donor_gain	1.0000
8:22554857:CCGCA:C	acceptor_loss	1.0000
8:22554858:CGCAG:C	acceptor_loss	1.0000
8:22554859:GCA:G	acceptor_loss	1.0000
8:22554860:CA:C	acceptor_loss	1.0000
8:22556909:G:GG	donor_gain	1.0000
8:22558124:CCCA:C	acceptor_loss	1.0000
8:22558125:CCA:C	acceptor_loss	1.0000
8:22558125:CCAG:C	acceptor_gain	1.0000
8:22558126:CA:C	acceptor_loss	1.0000
8:22558126:CAG:C	acceptor_gain	1.0000
8:22558127:A:AG	acceptor_gain	1.0000
8:22558127:A:AT	acceptor_loss	1.0000
8:22558127:AGA:A	acceptor_gain	1.0000
8:22558127:AGAGC:A	acceptor_gain	1.0000
8:22558128:G:A	acceptor_loss	1.0000
8:22558128:G:C	acceptor_gain	1.0000
8:22558128:G:GG	acceptor_gain	1.0000
8:22558128:GA:G	acceptor_gain	1.0000
8:22558128:GAGC:G	acceptor_gain	1.0000
8:22558128:GAGCG:G	acceptor_gain	1.0000
8:22558188:GCCAG:G	donor_gain	1.0000
8:22558189:CCAGG:C	donor_loss	1.0000
8:22558190:CAGG:C	donor_loss	1.0000
8:22558191:AGG:A	donor_loss	1.0000
8:22558192:GGT:G	donor_loss	1.0000
8:22558193:G:GC	donor_loss	1.0000
8:22558193:G:GG	donor_gain	1.0000

AlphaMissense

4338 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:22567090:T:A	V407D	1.000
8:22567119:T:A	W417R	1.000
8:22567119:T:C	W417R	1.000
8:22569224:C:A	A461D	1.000
8:22569260:T:C	L473P	1.000
8:22566832:C:A	A385D	0.999
8:22567066:T:C	L399P	0.999
8:22567121:G:C	W417C	0.999
8:22567121:G:T	W417C	0.999
8:22567123:T:C	L418P	0.999
8:22567128:G:A	G420R	0.999
8:22567128:G:C	G420R	0.999
8:22567129:G:A	G420E	0.999
8:22567156:T:C	F429S	0.999
8:22569266:T:C	F475S	0.999
8:22570932:G:C	R485P	0.999
8:22570958:G:A	G494R	0.999
8:22570958:G:C	G494R	0.999
8:22570959:G:A	G494E	0.999
8:22570985:G:C	G503R	0.999
8:22570992:T:C	F505S	0.999
8:22572384:T:C	L631P	0.999
8:22572390:T:C	L633P	0.999
8:22572437:T:A	W649R	0.999
8:22572437:T:C	W649R	0.999
8:22572446:G:C	G652R	0.999
8:22574667:G:A	G652D	0.999
8:22574694:G:A	G661E	0.999
8:22574715:T:A	V668D	0.999
8:22566849:T:C	F391L	0.998

dbSNP variants (sampled 300 via entrez): RS1000008683 (8:22566224 G>A,C,T), RS1000039262 (8:22552251 C>A,T), RS1000067775 (8:22565984 G>A), RS1000224455 (8:22567436 A>C,T), RS1000246479 (8:22560652 T>A), RS1000284787 (8:22567691 G>C), RS1000328634 (8:22552049 A>G), RS1000422818 (8:22555544 A>G), RS1000468682 (8:22562398 A>G,T), RS1000572889 (8:22562411 A>G), RS1000682380 (8:22572581 G>A,C), RS1000797430 (8:22562204 A>G), RS1000861532 (8:22558054 G>A,T), RS1000986027 (8:22562107 T>C), RS1001144881 (8:22547970 T>C)

Disease associations

OMIM: gene MIM:610795 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000656_3	HIV-1 viral setpoint	9.000000e-06
GCST004862_83	Itch intensity from mosquito bite adjusted by bite size	8.000000e-06
GCST004902_25	Parkinson’s disease	3.000000e-08
GCST006630_15	Diastolic blood pressure	3.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0000180	HIV-1 infection
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	increases expression, affects cotreatment, decreases expression, increases abundance	4
sodium arsenite	affects binding, decreases reaction, increases expression, affects response to substance	2
(+)-JQ1 compound	decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Cisplatin	decreases expression, affects expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	affects expression	1
coumarin	increases phosphorylation	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Decitabine	affects expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Diethylstilbestrol	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Ivermectin	decreases expression	1
Methotrexate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3HX	Abcam HEK293T SORBS3 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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