SHC3

Summary

SHC3 (SHC adaptor protein 3, HGNC:18181) is a protein-coding gene on chromosome 9q22.1, encoding SHC-transforming protein 3 (Q92529). Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons.

Enables phosphotyrosine residue binding activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within glutamatergic synaptic transmission and learning or memory. Predicted to be located in cytosol. Predicted to be active in plasma membrane.

Source: NCBI Gene 53358 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_016848

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18181
Approved symbol	SHC3
Name	SHC adaptor protein 3
Location	9q22.1
Locus type	gene with protein product
Status	Approved
Aliases	N-Shc, NSHC, SHCC
Ensembl gene	ENSG00000148082
Ensembl biotype	protein_coding
OMIM	605263
Entrez	53358

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000375831, ENST00000375835

RefSeq mRNA: 1 — MANE Select: NM_016848 NM_016848

CCDS: CCDS6681

Canonical transcript exons

ENST00000375835 — 12 exons

Exon	Start	End
ENSE00001168317	89037993	89038288
ENSE00001468523	89005771	89013575
ENSE00003478813	89077840	89077903
ENSE00003527801	89071199	89071252
ENSE00003549978	89112556	89112626
ENSE00003552317	89065529	89065580
ENSE00003557669	89075109	89075228
ENSE00003582643	89042026	89042184
ENSE00003638015	89052037	89052163
ENSE00003654680	89045746	89045833
ENSE00003658912	89177987	89178818
ENSE00003664999	89046844	89046994

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 99.21.

FANTOM5 (CAGE): breadth broad, TPM avg 5.8809 / max 502.3765, expressed in 742 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101277	1.5637	454
101274	1.4510	546
101275	1.2055	470
101280	1.0299	110
101276	0.2228	107
101273	0.1952	90
101278	0.1158	61
101279	0.0636	33
101272	0.0335	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	99.21	gold quality
middle temporal gyrus	UBERON:0002771	98.81	gold quality
endothelial cell	CL:0000115	98.29	gold quality
superior frontal gyrus	UBERON:0002661	96.19	gold quality
postcentral gyrus	UBERON:0002581	96.12	gold quality
entorhinal cortex	UBERON:0002728	96.11	gold quality
parietal lobe	UBERON:0001872	95.82	gold quality
primary visual cortex	UBERON:0002436	92.93	gold quality
occipital lobe	UBERON:0002021	92.70	gold quality
orbitofrontal cortex	UBERON:0004167	92.24	gold quality
frontal cortex	UBERON:0001870	91.73	gold quality
frontal pole	UBERON:0002795	91.62	gold quality
neocortex	UBERON:0001950	91.49	gold quality
temporal lobe	UBERON:0001871	91.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.36	gold quality
cerebral cortex	UBERON:0000956	91.31	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.23	gold quality
cingulate cortex	UBERON:0003027	91.12	gold quality
prefrontal cortex	UBERON:0000451	91.09	gold quality
anterior cingulate cortex	UBERON:0009835	91.04	gold quality
right frontal lobe	UBERON:0002810	90.14	gold quality
ventricular zone	UBERON:0003053	89.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.24	gold quality
Ammon’s horn	UBERON:0001954	89.18	gold quality
telencephalon	UBERON:0001893	88.64	gold quality
amygdala	UBERON:0001876	88.40	gold quality
visceral pleura	UBERON:0002401	87.43	gold quality
ganglionic eminence	UBERON:0004023	87.12	gold quality
buccal mucosa cell	CL:0002336	86.97	gold quality
pons	UBERON:0000988	85.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	966.31
E-ANND-3	yes	8.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

222 targeting SHC3, 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-6867-5P	100.00	82.21	3464
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 17)

• Tyrosine phosphorylation of the beta-amyloid precursor protein cytoplasmic tail promotes interaction with Shc. (PMID:11877420)
• ALK-ShcC signal activation, possibly caused by co-amplification with the N-myc gene, might give additional effects on malignant tumor progression of neuroblastoma.ShcC is a potent substrate of the activated ALK kinase. (PMID:12185581)
• The neuron-specific Rai (ShcC) adaptor protein inhibits apoptosis by coupling Ret to the phosphatidylinositol 3-kinase/Akt signaling pathway. (PMID:12242309)
• ShcC has phosphotyrosine-dependent and -independent functions in neuroblastoma cells (PMID:15735675)
• The inappropriate in vivo expression of Shc3 in high-grade glioma may contribute to the survival of the cancer cells. (PMID:15870690)
• data suggest that RAI (ShcC/H-Shc)is a critical substrate for RET oncoproteins in thyroid carcinomas (PMID:15940252)
• 11 SNPs within SHC3 were examined to determine the association with nicotine dependence (ND) in either African-Americans (AA) or European-Americans (EA); three SNPs for AAs and one for EAs were significantly associated with at least one ND. (PMID:17179996)
• shcc is expressed in the human gut, especially in the enteric glial cells (PMID:17919311)
• ShcC is a therapeutic target that might induce differentiation in the aggressive type of neuroblastomas. (PMID:18997821)
• amplification of SHC3 and EDG3 genes suggests that the two proteins co-operate and are important for ependymomas in vivo. (PMID:19748727)
• Polymorphism in RAI and CD3EAP are associated with outcome of myeloma patients treated with high dose treatment. (PMID:21046104)
• Rai (ShcC/N-Shc), a member of the family of Shc-like adaptor proteins, as a new regulator of migration of normal and cancer stem/progenitor cells. (PMID:22311806)
• High SHC3 expression is associated with glioblastoma. (PMID:25062668)
• We may conclude that RAI plays an important role in hypoxic signaling in Neuroblastoma (NB)cells and the interplay between RAI and HIF-1alpha may be relevant in the protection of NB cells against hypoxia. Our results may contribute to a further understanding the physiology of NB cells and the molecular mechanisms involved in their survival, with important implications in NB progression (PMID:29057481)
• our results indicate the importance of Shc3 in HCC progression and identify Shc3 as a novel biomarker and potential therapeutic target in HCC.Significance: Ectopic expression of Shc3 forms a complex with MVP/MEK/ERK to potentiate ERK activation and plays an important role in sorafinib resistance in HCC. (PMID:29330146)
• The Shc protein Rai enhances T-cell survival under hypoxia. (PMID:31944299)
• Shc3 facilitates breast cancer drug resistance by interacting with ErbB2 to initiate ErbB2/COX2/MDR1 axis. (PMID:36880347)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	SHC3	ENSDARG00000098909
mus_musculus	Shc3	ENSMUSG00000021448
rattus_norvegicus	Shc3	ENSRNOG00000014366
caenorhabditis_elegans	shc-1	WBGENE00018788

Paralogs (3): CEP152 (ENSG00000103995), SHC1 (ENSG00000160691), SHC4 (ENSG00000185634)

Protein

Protein identifiers

SHC-transforming protein 3 — Q92529 (reviewed: Q92529)

Alternative names: Neuronal Shc, Protein Rai, SHC-transforming protein C, Src homology 2 domain-containing-transforming protein C3

All UniProt accessions (2): Q92529, Q5T7I8

UniProt curated annotations — full annotation on UniProt →

Function. Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons.

Subunit / interactions. Interacts with the Trk receptors in a phosphotyrosine-dependent manner. Once activated, binds to GRB2. Interacts with activated EGF receptors.

Tissue specificity. Mainly expressed in brain. Hardly detectable in other tissues, except in pancreas. Highly expressed in the cerebral cortex, frontal and temporal lobes, occipital pole, hippocampus, caudate nucleus and amygdala. Expressed at low level in the cerebellum, medulla and spinal cord.

Post-translational modifications. Tyrosine phosphorylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92529-1	p64	yes
Q92529-2	p52

RefSeq proteins (1): NP_058544* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000980	SH2	Domain
IPR006019	PID_Shc-like	Domain
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035676	SHC_SH2	Domain
IPR036860	SH2_dom_sf	Homologous_superfamily
IPR051235	CEP152/SHC-Transforming	Family

Pfam: PF00017, PF00640

UniProt features (17 total): sequence conflict 6, region of interest 4, domain 2, compositionally biased region 2, chain 1, splice variant 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92529-F1	61.89	0.21

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 (1): 402

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-167044	Signalling to RAS
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-8853659	RET signaling
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-166520	Signaling by NTRKs
R-HSA-187037	Signaling by NTRK1 (TRKA)
R-HSA-187687	Signalling to ERKs
R-HSA-422475	Axon guidance
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9675108	Nervous system development

MSigDB gene sets: 164 (showing top): AP1_01, GRUETZMANN_PANCREATIC_CANCER_DN, AAAYRNCTG_UNKNOWN, REACTOME_SIGNALLING_TO_RAS, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_UP, AP1_Q4_01, KEGG_ERBB_SIGNALING_PATHWAY, GOBP_ERBB_SIGNALING_PATHWAY, BACH2_01, WTGAAAT_UNKNOWN, E4F1_Q6, KOKKINAKIS_METHIONINE_DEPRIVATION_48HR_UP, TGANTCA_AP1_C, REACTOME_SIGNALLING_TO_ERKS, AACTTT_UNKNOWN

GO Biological Process (4): cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), epidermal growth factor receptor signaling pathway (GO:0007173), central nervous system development (GO:0007417), intracellular signal transduction (GO:0035556)

GO Molecular Function (3): phosphotyrosine residue binding (GO:0001784), receptor tyrosine kinase binding (GO:0030971), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), plasma membrane (GO:0005886)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Signal Transduction	2
Signalling to ERKs	1
MAPK1/MAPK3 signaling	1
Axon guidance	1
Signaling by Receptor Tyrosine Kinases	1
Signaling by NTRKs	1
Signaling by NTRK1 (TRKA)	1
Nervous system development	1
MAPK family signaling cascades	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
enzyme-linked receptor protein signaling pathway	1
ERBB signaling pathway	1
nervous system development	1
system development	1
intracellular anatomical structure	1
signal transduction	1
protein phosphorylated amino acid binding	1
signaling receptor binding	1
protein tyrosine kinase binding	1
binding	1
cytoplasm	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1162 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHC3	GRB2	P29354	867
SHC3	NTRK2	Q16620	822
SHC3	NTRK1	P04629	655
SHC3	SRC	P12931	615
SHC3	SOS1	Q07889	587
SHC3	INPP5D	Q92835	490
SHC3	BDNF	P23560	480
SHC3	EGF	P01133	475
SHC3	IGF1R	P08069	474
SHC3	DLG4	P78352	474
SHC3	IRS1	P35568	462
SHC3	BSDC1	Q9NW68	462
SHC3	MAP2K1	Q02750	449
SHC3	MAP2K2	P36507	434
SHC3	PTPN11	Q06124	429

IntAct

150 interactions, top by confidence:

A	B	Type	Score
SHC3	KRT31	psi-mi:“MI:0915”(physical association)	0.720
KRT40	SHC3	psi-mi:“MI:0915”(physical association)	0.720
KRT31	SHC3	psi-mi:“MI:0915”(physical association)	0.720
SHC3	KRT40	psi-mi:“MI:0915”(physical association)	0.720
APP	SHC3	psi-mi:“MI:0915”(physical association)	0.680
SHC3	APP	psi-mi:“MI:0915”(physical association)	0.680
SHC3	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	SHC3	psi-mi:“MI:0915”(physical association)	0.560
SHC3	CT55	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	SHC3	psi-mi:“MI:0915”(physical association)	0.560
TRIM54	SHC3	psi-mi:“MI:0915”(physical association)	0.560
USP54	SHC3	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	SHC3	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	SHC3	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	SHC3	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	SHC3	psi-mi:“MI:0915”(physical association)	0.560
REL	SHC3	psi-mi:“MI:0915”(physical association)	0.560
USHBP1	SHC3	psi-mi:“MI:0915”(physical association)	0.560
PSMD8	SHC3	psi-mi:“MI:0915”(physical association)	0.560
KRT86	SHC3	psi-mi:“MI:0915”(physical association)	0.560
CEACAM6	SHC3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (79): SHC3 (Two-hybrid), SHC3 (Two-hybrid), KRT40 (Two-hybrid), SHC3 (Affinity Capture-MS), EGFR (Reconstituted Complex), SHC3 (Affinity Capture-MS), EGFR (Affinity Capture-Western), EGFR (Reconstituted Complex), SHC3 (Affinity Capture-Western), ZAP70 (Affinity Capture-Western), CD247 (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), SHC3 (Synthetic Lethality), SHC3 (Affinity Capture-Western), SHC3 (Affinity Capture-Western)

ESM2 similar proteins: A0A8I3NFE2, A0FI79, B1AVH7, B5DFA1, D2H0G5, D7PF45, O00750, O15357, O70143, P29353, P97573, P98083, Q00IB7, Q0IIE2, Q15678, Q16825, Q17R13, Q2I6J0, Q2I6J1, Q2V2M9, Q5JV73, Q5M824, Q5R7W7, Q5U2X5, Q61120, Q62130, Q62136, Q62728, Q62925, Q69Z98, Q6P4S2, Q6P549, Q80TI1, Q8AY68, Q8BMC3, Q8BYW1, Q8IWQ3, Q8K245, Q92529, Q92835

Diamond homologs: A0A8I3NFE2, A5PMU4, D3ZAR1, O09127, O15357, O70143, P0C6S7, P29321, P29353, P54753, P54754, P54755, P54756, P54758, P59672, P98083, Q03145, Q07498, Q09YL6, Q0IIE2, Q2I6J1, Q32PV0, Q3V1H9, Q5M824, Q5PQS4, Q5R7W7, Q5SW96, Q5TGI4, Q60629, Q61120, Q62413, Q6DD51, Q6P549, Q6P9K8, Q6S5L9, Q7Z6G8, Q801G1, Q8BIZ1, Q8C142, Q8K2A1

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
ERBB2	up-regulates	SHC3	relocalization
ERBB4	up-regulates	SHC3	relocalization
SHC3	up-regulates	GRB2	relocalization
sapitinib	down-regulates	SHC3	“chemical inhibition”
“ErbB receptor family”	up-regulates	SHC3	relocalization
EGFR	up-regulates	SHC3	binding
NTRK2	up-regulates	SHC3	binding
ALK	up-regulates	SHC3	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
Constitutive Signaling by Aberrant PI3K in Cancer	7	24.0×	6e-06
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	18.3×	2e-05
Formation of the cornified envelope	7	16.6×	2e-05
PIP3 activates AKT signaling	7	12.6×	9e-05
Keratinization	7	10.5×	2e-04
RAF/MAP kinase cascade	6	9.9×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	6	44.9×	1e-06
intermediate filament organization	7	36.6×	4e-07
epidermal growth factor receptor signaling pathway	5	26.9×	1e-04
epithelial cell differentiation	6	22.9×	4e-05
cell surface receptor protein tyrosine kinase signaling pathway	5	18.9×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	80
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3471 predictions. Top by Δscore:

Variant	Effect	Δscore
9:89038327:A:T	acceptor_gain	1.0000
9:89042024:A:AC	donor_gain	1.0000
9:89042025:C:CC	donor_gain	1.0000
9:89042025:CT:C	donor_gain	1.0000
9:89042044:T:A	donor_gain	1.0000
9:89046839:CTTA:C	donor_loss	1.0000
9:89046840:TTA:T	donor_loss	1.0000
9:89046841:TACCT:T	donor_loss	1.0000
9:89046842:A:AC	donor_gain	1.0000
9:89046842:ACCTG:A	donor_loss	1.0000
9:89046843:C:CT	donor_gain	1.0000
9:89046843:CCTGG:C	donor_gain	1.0000
9:89052160:CAAG:C	acceptor_gain	1.0000
9:89065528:CCT:C	donor_gain	1.0000
9:89075105:GTACC:G	donor_loss	1.0000
9:89075108:C:A	donor_loss	1.0000
9:89075224:GGAGG:G	acceptor_gain	1.0000
9:89075225:GAGG:G	acceptor_gain	1.0000
9:89075226:AGG:A	acceptor_gain	1.0000
9:89075227:GG:G	acceptor_gain	1.0000
9:89075228:GCTG:G	acceptor_loss	1.0000
9:89075229:C:CC	acceptor_gain	1.0000
9:89075231:G:C	acceptor_gain	1.0000
9:89075231:G:GC	acceptor_gain	1.0000
9:89075237:T:C	acceptor_gain	1.0000
9:89077902:CCCT:C	acceptor_gain	1.0000
9:89077903:CCT:C	acceptor_gain	1.0000
9:89077905:T:C	acceptor_gain	1.0000
9:89077905:T:TC	acceptor_gain	1.0000
9:89077912:A:T	acceptor_gain	1.0000

AlphaMissense

3874 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:89071217:G:C	F255L	1.000
9:89071217:G:T	F255L	1.000
9:89071219:A:G	F255L	1.000
9:89013535:A:G	L566P	0.999
9:89038051:A:G	L533P	0.999
9:89038051:A:T	L533H	0.999
9:89038054:A:T	V532D	0.999
9:89038083:C:A	R522S	0.999
9:89038083:C:G	R522S	0.999
9:89038087:A:T	V521D	0.999
9:89052096:A:C	F301L	0.999
9:89052096:A:T	F301L	0.999
9:89052098:A:G	F301L	0.999
9:89065559:A:C	Y269D	0.999
9:89065564:A:T	V267D	0.999
9:89071215:G:T	A256D	0.999
9:89075131:A:G	L236P	0.999
9:89077899:C:G	A184P	0.999
9:89112619:C:T	G161E	0.999
9:89112620:C:A	G161W	0.999
9:89112625:T:C	Y159C	0.999
9:89112626:A:C	Y159D	0.999
9:89112626:A:G	Y159H	0.999
9:89038012:A:T	L546H	0.998
9:89038018:A:G	L544P	0.998
9:89038084:C:A	R522M	0.998
9:89038084:C:G	R522T	0.998
9:89038092:G:C	F519L	0.998
9:89038092:G:T	F519L	0.998
9:89038093:A:G	F519S	0.998

dbSNP variants (sampled 300 via entrez): RS1000034630 (9:89056285 C>T), RS1000066862 (9:89166970 A>G), RS1000090307 (9:89048119 C>G,T), RS1000096116 (9:89031874 C>G), RS1000113545 (9:89133589 G>T), RS1000121315 (9:89170171 C>T), RS1000123688 (9:89104829 G>C), RS1000139829 (9:89175931 G>A,T), RS1000153529 (9:89080510 C>A,G), RS1000154042 (9:89169934 G>A), RS1000156567 (9:89005834 G>A), RS1000160654 (9:89123904 T>C), RS1000164376 (9:89162440 A>C,G,T), RS1000216607 (9:89170519 G>A,T), RS1000231623 (9:89125726 C>T)

Disease associations

OMIM: gene MIM:605263 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001408_7	Response to statins (LDL cholesterol change)	7.000000e-07
GCST003225_33	Pelvic organ prolapse (moderate/severe)	9.000000e-07
GCST006192_44	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-09
GCST006995_2	Logical memory (delayed recall) in Alzheimer’s disease dementia	7.000000e-08
GCST009265_4	Superior parietal cortex volume	8.000000e-06
GCST012490_310	Femur bone mineral density x serum urate levels interaction	1.000000e-09
GCST90002393_306	Monocyte count	8.000000e-19

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007804	LDL cholesterol change measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0004874	memory performance
EFO:0004531	urate measurement
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, increases expression	3
Valproic Acid	decreases expression, increases expression	3
Benzo(a)pyrene	affects methylation, increases methylation	2
Dexamethasone	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, affects expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
arsenite	increases methylation	1
sodium arsenite	affects splicing, decreases expression	1
benzo(k)fluoranthene	decreases expression	1
aflatoxin B2	decreases methylation	1
benz(a)anthracene	decreases expression	1
indeno(1,2,3-cd)pyrene	decreases expression	1
mercuric bromide	affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, affects expression	1
belinostat	affects cotreatment, decreases expression	1
abrine	decreases expression	1
ormosil	affects binding, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, affects expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Panobinostat	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Carbamazepine	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2F8	Abcam HeLa SHC3 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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