SHCBP1

Summary

SHCBP1 (SHC binding and spindle associated 1, HGNC:29547) is a protein-coding gene on chromosome 16q11.2, encoding SHC SH2 domain-binding protein 1 (Q8NEM2). May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation.

Predicted to enable SH2 domain binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway and regulation of neural precursor cell proliferation. Predicted to be located in cytoplasm; midbody; and spindle.

Source: NCBI Gene 79801 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 130 total
• MANE Select transcript: NM_024745

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29547
Approved symbol	SHCBP1
Name	SHC binding and spindle associated 1
Location	16q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22009, PAL
Ensembl gene	ENSG00000171241
Ensembl biotype	protein_coding
OMIM	611027
Entrez	79801

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 retained_intron, 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000303383, ENST00000563219, ENST00000564272, ENST00000565887, ENST00000566016, ENST00000567698, ENST00000569702, ENST00000939745

RefSeq mRNA: 3 — MANE Select: NM_024745 NM_001324318, NM_001324319, NM_024745

CCDS: CCDS10720

Canonical transcript exons

ENST00000303383 — 13 exons

Exon	Start	End
ENSE00001131917	46584003	46584089
ENSE00001131922	46595552	46595670
ENSE00001131935	46603539	46603659
ENSE00001131943	46603975	46604143
ENSE00001314932	46578591	46582054
ENSE00001326429	46621257	46621379
ENSE00003516913	46608297	46608389
ENSE00003553665	46599831	46599962
ENSE00003596826	46583516	46583657
ENSE00003636948	46604228	46604461
ENSE00003642270	46618205	46618372
ENSE00003646682	46615946	46616154
ENSE00003662369	46617634	46617749

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 93.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2892 / max 243.7578, expressed in 1322 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157193	7.2892	1322

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	93.13	gold quality
oocyte	CL:0000023	89.44	gold quality
ventricular zone	UBERON:0003053	88.56	gold quality
bone marrow	UBERON:0002371	85.67	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.85	gold quality
ganglionic eminence	UBERON:0004023	83.28	gold quality
trabecular bone tissue	UBERON:0002483	82.01	gold quality
stromal cell of endometrium	CL:0002255	81.84	gold quality
bone marrow cell	CL:0002092	80.52	gold quality
vermiform appendix	UBERON:0001154	79.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.94	gold quality
amniotic fluid	UBERON:0000173	75.49	gold quality
greater omentum	UBERON:0005448	75.00	silver quality
lymph node	UBERON:0000029	73.98	gold quality
embryo	UBERON:0000922	73.38	gold quality
caecum	UBERON:0001153	72.75	gold quality
testis	UBERON:0000473	72.34	gold quality
right testis	UBERON:0004534	72.34	gold quality
left testis	UBERON:0004533	71.98	gold quality
esophagus mucosa	UBERON:0002469	71.30	gold quality
monocyte	CL:0000576	71.07	gold quality
mononuclear cell	CL:0000842	70.88	gold quality
leukocyte	CL:0000738	70.80	gold quality
lower esophagus mucosa	UBERON:0035834	70.64	gold quality
rectum	UBERON:0001052	70.53	gold quality
spleen	UBERON:0002106	70.47	gold quality
oral cavity	UBERON:0000167	70.46	gold quality
adrenal tissue	UBERON:0018303	70.38	gold quality
renal medulla	UBERON:0000362	69.83	gold quality
mucosa of transverse colon	UBERON:0004991	69.10	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	200.13
E-MTAB-9467	yes	30.93
E-CURD-122	yes	20.70
E-MTAB-6678	yes	7.61
E-ANND-3	yes	5.32
E-CURD-88	yes	3.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting SHCBP1, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
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-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-2052	99.79	69.37	2031

Literature-anchored findings (GeneRIF, showing 22)

• The central region of SHCBP1 was found to bind to measles virus C protein, as well as the phosphoprotein, but the two viral proteins did not compete for SHCBP1 binding. (PMID:23804634)
• Knockdown of SHCBP1 induced cell cycle delay. (PMID:24289556)
• This study gives novel insight into the role of SHCBP in cytokinesis completion. (PMID:25486361)
• Immunohistochemical analysis revealed SHCBP1 was significantly up-regulated in breast cancer tissues compared with adjacent normal tissues (82 of 128, 64%). Over-expressed SHCBP1 was correlated with advanced clinical stage and poorer survival. Ablation of SHCBP1 inhibited the proliferation in vitro. (PMID:27129942)
• Data indicate that the oncogene SS18-SSX1 promotes tumorigenesis by increasing the expression of SHC SH2-domain binding protein 1 (SHCBP1), which normally acts as a tumor promoting factor. (PMID:27572315)
• SHCBP1 was found highly expressed in SS cell lines and tissues, which was linked to the poor clinical prognosis and was implicated in SS aggressive progression. SHCBP1 regulated invasion and metastasis by modulating the TGF-beta1/Smad signaling pathway and promoting the EMT in SS. (PMID:29020987)
• SHCBP1, a member of Src homolog and collagen homolog (Shc) family, was significantly overexpressed in glioma tissues and glioma cell lines compared to the corresponding normal tissues and cells. Ectopic overexpression of SHCBP1 promoted glioma cell migration and invasion, whereas knockdown of endogenous SHCBP1 had the opposite effects. SHCBP1 promoted aggressiveness in gliomas by activating the NF-kappaB signaling path… (PMID:29745440)
• study establishes a novel convergence between EGFR and beta-catenin pathways and highlights a potential significance of SHCBP1 as a prognostic biomarker and a therapeutic target. (PMID:30177836)
• Study revealed that SHCBP1 may play a role in cell growth and metastasis and may be a potential diagnosis biomarker and therapeutic target for gastric cancer. (PMID:30592290)
• High SHCBP1 expression is associated with cisplatin induced apoptosis resistance, migration and invasion through activating Wnt pathway in lung cancer. (PMID:31472149)
• SOX2-induced upregulation of lncRNA LINC01561 promotes non-small-cell lung carcinoma progression by sponging miR-760 to modulate SHCBP1 expression. (PMID:32003010)
• PART1 and hsa-miR-429-Mediated SHCBP1 Expression Is an Independent Predictor of Poor Prognosis in Glioma Patients. (PMID:32351983)
• SHCBP1 was significantly upregulated in PCa tissues compared with BPH tissues. Patients with a higher expression of SHCBP1 were associated with poor survival outcomes than those with a lower expression of SHCBP1. (PMID:32447485)
• SHCBP1 Promotes the Progression of Esophageal Squamous Cell Carcinoma Via the TGFbeta Pathway. (PMID:32769441)
• A four-gene signature in the tumor microenvironment that significantly associates with the prognosis of patients with breast cancer. (PMID:32791092)
• SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer. (PMID:33515675)
• Hyperactivation of HER2-SHCBP1-PLK1 axis promotes tumor cell mitosis and impairs trastuzumab sensitivity to gastric cancer. (PMID:33990570)
• Long Non-Coding RNA TP53TG1 Upregulates SHCBP1 to Promote Retinoblastoma Progression by Sponging miR-33b. (PMID:34247545)
• EGF-induced nuclear translocation of SHCBP1 promotes bladder cancer progression through inhibiting RACGAP1-mediated RAC1 inactivation. (PMID:35013128)
• SHCBP1 Is a Prognostic Biomarker Related to the Tumour Immune Microenvironment in Pan-Cancer. (PMID:36564070)
• Biological functions and therapeutic potential of SHCBP1 in human cancer. (PMID:36739763)
• The dynamic role of nucleoprotein SHCBP1 in the cancer cell cycle and its potential as a synergistic target for DNA-damaging agents in cancer therapy. (PMID:38365687)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Shcbp1	ENSMUSG00000022322
rattus_norvegicus	Shcbp1	ENSRNOG00000053026

Paralogs (1): SHCBP1L (ENSG00000157060)

Protein

Protein identifiers

SHC SH2 domain-binding protein 1 — Q8NEM2 (reviewed: Q8NEM2)

All UniProt accessions (2): Q8NEM2, I3L3Z1

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells.

Subunit / interactions. Interacts directly with isoform p52shc of SHC1 via its SH2 domain. Interacts with TRIM71; leading to enhanced SHCBP1 protein stability. Interacts with both members of the centralspindlin complex, KIF23 and RACGAP1.

Subcellular location. Midbody. Cytoplasm. Cytoskeleton. Spindle.

RefSeq proteins (3): NP_001311247, NP_001311248, NP_079021* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006626	PbH1	Repeat
IPR011050	Pectin_lyase_fold/virulence	Homologous_superfamily
IPR012334	Pectin_lyas_fold	Homologous_superfamily
IPR039448	Beta_helix	Domain
IPR045140	SHCBP1-like	Family
IPR057508	SHCBP-like_N	Domain

Pfam: PF13229, PF23762

UniProt features (23 total): modified residue 9, sequence conflict 5, repeat 5, sequence variant 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEM2-F1	74.16	0.38

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 (9): 31, 42, 44, 47, 273, 634, 2, 5, 7

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 269 (showing top): GNF2_CENPF, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GNF2_H2AFX, MITSIADES_RESPONSE_TO_APLIDIN_DN, MODULE_453, KONG_E2F3_TARGETS, GNF2_RRM1, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, MODULE_205, GNF2_HMMR, GOMF_SH2_DOMAIN_BINDING, GNF2_SMC4L1, FISCHER_G2_M_CELL_CYCLE, GOBP_RESPONSE_TO_FIBROBLAST_GROWTH_FACTOR, RIGGI_EWING_SARCOMA_PROGENITOR_DN

GO Biological Process (2): fibroblast growth factor receptor signaling pathway (GO:0008543), regulation of neural precursor cell proliferation (GO:2000177)

GO Molecular Function (2): SH2 domain binding (GO:0042169), protein binding (GO:0005515)

GO Cellular Component (4): spindle (GO:0005819), midbody (GO:0030496), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
cellular anatomical structure	2
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
regulation of cell population proliferation	1
neural precursor cell proliferation	1
protein domain specific binding	1
binding	1
microtubule cytoskeleton	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHCBP1	SHC1	P29353	920
SHCBP1	POLDIP3	Q9BY77	825
SHCBP1	CENPA	P49450	565
SHCBP1	MCM10	Q7L590	559
SHCBP1	RAD51AP1	Q96B01	544
SHCBP1	RACGAP1	Q9H0H5	537
SHCBP1	DEPDC1	Q5TB30	510
SHCBP1	CENPN	Q96H22	483
SHCBP1	SRC	P12931	463
SHCBP1	LRRC46	Q96FV0	457
SHCBP1	KLHDC4	Q8TBB5	453
SHCBP1	CDT1	Q9H211	451
SHCBP1	MAD2L1	Q13257	433
SHCBP1	ESPL1	Q14674	417
SHCBP1	EXO1	Q9UQ84	397

IntAct

78 interactions, top by confidence:

A	B	Type	Score
RACGAP1	KIF23	psi-mi:“MI:0914”(association)	0.920
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAG	SHCBP1	psi-mi:“MI:0915”(physical association)	0.810
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PRKCB	SHCBP1	psi-mi:“MI:0915”(physical association)	0.560
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
PSG9	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ZNF331	USP9Y	psi-mi:“MI:0914”(association)	0.530
RACGAP1	CHEK1	psi-mi:“MI:0914”(association)	0.530
ZNF563	LRP4	psi-mi:“MI:0914”(association)	0.530
PRKCA	DUSP11	psi-mi:“MI:0914”(association)	0.530
KIF23	SHCBP1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
NOL9	IPO5	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
KRBA1	TRIM27	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
Shcbp1	PDIA4	psi-mi:“MI:0915”(physical association)	0.400
Racgap1		psi-mi:“MI:0915”(physical association)	0.400
Dctn2	DCTN2	psi-mi:“MI:0915”(physical association)	0.400
Kif23	KIF23	psi-mi:“MI:0915”(physical association)	0.400
Cd2ap		psi-mi:“MI:0915”(physical association)	0.400

BioGRID (194): SHCBP1 (Affinity Capture-RNA), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), ZUFSP (Two-hybrid), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS), SHCBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0FKI7, A1A5R8, A2AHC3, A2BE28, A5WUN7, A8DZJ1, B7ZS37, D3Z6S9, D3Z8E6, O55036, O60281, O75113, P54274, P62932, P70278, Q08AD1, Q13129, Q16533, Q2T9I9, Q3UMB5, Q5BLK4, Q5H9M0, Q5T4T6, Q5T5Y3, Q5VYS8, Q640U0, Q641E3, Q6DRL4, Q6IRN6, Q6PUR7, Q7Z2Z1, Q7Z7J5, Q86WZ0, Q8BQ33, Q8IZM8, Q8K0S9, Q8NEM2, Q8TEV9

Diamond homologs: Q3TTP0, Q640F2, Q8NEM2, Q9BZQ2, Q9Z179, Q6GPE9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AURKB	“up-regulates activity”	SHCBP1	phosphorylation
ERBB2	“up-regulates activity”	SHCBP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	8	97.7×	2e-12
Activation of BAD and translocation to mitochondria	7	96.9×	4e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	85.5×	9e-11
Activation of BH3-only proteins	7	63.2×	7e-10
RHO GTPases activate PKNs	7	40.4×	2e-08
Intrinsic Pathway for Apoptosis	7	37.3×	3e-08
FOXO-mediated transcription	5	30.5×	1e-05
SARS-CoV-1-host interactions	7	22.4×	8e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	25.1×	4e-04
intracellular protein localization	9	12.9×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1908 predictions. Top by Δscore:

Variant	Effect	Δscore
16:46582051:TTTT:T	acceptor_gain	1.0000
16:46582052:TTT:T	acceptor_gain	1.0000
16:46582053:TT:T	acceptor_gain	1.0000
16:46582053:TTC:T	acceptor_loss	1.0000
16:46582054:TCTGG:T	acceptor_loss	1.0000
16:46582055:C:CC	acceptor_gain	1.0000
16:46582056:T:A	acceptor_loss	1.0000
16:46582064:C:CT	acceptor_gain	1.0000
16:46583513:TACC:T	donor_loss	1.0000
16:46583515:C:CA	donor_loss	1.0000
16:46583518:T:A	donor_gain	1.0000
16:46583657:CCTG:C	acceptor_loss	1.0000
16:46583658:C:CC	acceptor_gain	1.0000
16:46583666:T:TC	acceptor_gain	1.0000
16:46583998:CTCA:C	donor_loss	1.0000
16:46583999:TCA:T	donor_loss	1.0000
16:46584000:CA:C	donor_loss	1.0000
16:46584001:ACCT:A	donor_loss	1.0000
16:46584002:C:CG	donor_loss	1.0000
16:46584086:CACC:C	acceptor_gain	1.0000
16:46584088:CC:C	acceptor_gain	1.0000
16:46584089:CC:C	acceptor_gain	1.0000
16:46584098:C:CT	acceptor_gain	1.0000
16:46584101:A:T	acceptor_gain	1.0000
16:46599825:ACT:A	donor_loss	1.0000
16:46599826:CT:C	donor_loss	1.0000
16:46599827:TTA:T	donor_loss	1.0000
16:46599828:TACT:T	donor_loss	1.0000
16:46599829:A:AC	donor_gain	1.0000
16:46599830:C:CT	donor_gain	1.0000

AlphaMissense

4473 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:46604228:C:G	R308T	0.998
16:46604255:A:G	L299P	0.998
16:46608361:A:G	W209R	0.998
16:46608361:A:T	W209R	0.998
16:46584060:A:C	S498R	0.997
16:46584060:A:T	S498R	0.997
16:46584062:T:G	S498R	0.997
16:46603607:A:T	V382D	0.997
16:46604143:C:A	R308S	0.997
16:46604143:C:G	R308S	0.997
16:46604228:C:A	R308M	0.997
16:46604063:A:T	V335D	0.996
16:46604435:A:T	V239D	0.996
16:46595631:A:G	L462P	0.995
16:46608303:A:G	L228S	0.995
16:46584010:A:G	L515P	0.994
16:46584017:C:A	G513W	0.994
16:46584017:C:G	G513R	0.994
16:46584017:C:T	G513R	0.994
16:46608307:G:C	R227G	0.994
16:46608358:C:G	D210H	0.994
16:46608365:C:A	R207S	0.994
16:46608365:C:G	R207S	0.994
16:46608366:C:G	R207T	0.994
16:46581777:G:C	N657K	0.993
16:46581777:G:T	N657K	0.993
16:46583602:A:T	I536K	0.993
16:46608306:C:G	R227P	0.993
16:46617666:A:G	W119R	0.993
16:46617666:A:T	W119R	0.993

dbSNP variants (sampled 300 via entrez): RS1000116543 (16:46605449 G>A), RS1000370858 (16:46581649 G>T), RS1000450670 (16:46620491 CTTTAT>C), RS1000458374 (16:46597864 T>G), RS1000523914 (16:46598281 T>G), RS1000634491 (16:46620762 G>A), RS1000638734 (16:46598622 T>C), RS1000685429 (16:46605724 T>C), RS1000695348 (16:46584433 T>A,G), RS1000709281 (16:46612622 A>G,T), RS1000764365 (16:46582183 C>G,T), RS1000956804 (16:46612621 C>T), RS1000997043 (16:46620146 C>G,T), RS1001053957 (16:46585063 T>C), RS1001056641 (16:46591141 G>A)

Disease associations

OMIM: gene MIM:611027 | 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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression	4
bisphenol A	decreases methylation, affects cotreatment, decreases expression	3
Cisplatin	affects cotreatment, decreases expression, increases expression, increases reaction	3
Estradiol	increases expression	3
Valproic Acid	decreases expression, increases expression	3
sodium arsenite	increases expression	2
perfluorooctanoic acid	decreases expression, affects cotreatment	2
chloropicrin	increases expression	2
Progesterone	decreases expression, increases expression	2
Silicon Dioxide	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	affects expression, decreases expression	2
Phytoestrogens	increases expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
propionaldehyde	decreases expression	1
deoxynivalenol	increases expression	1
kojic acid	increases expression	1
arsenite	decreases reaction, affects binding	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	increases expression, affects cotreatment	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
phenethyl isothiocyanate	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1

Clinical trials (associated diseases)

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