SHKBP1

Summary

SHKBP1 (SH3KBP1 binding protein 1, HGNC:19214) is a protein-coding gene on chromosome 19q13.2, encoding SH3KBP1-binding protein 1 (Q8TBC3). Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1.

Enables identical protein binding activity. Predicted to be involved in positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in lysosome.

Source: NCBI Gene 92799 — RefSeq curated summary.

At a glance

• Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 135 total
• MANE Select transcript: NM_138392

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19214
Approved symbol	SHKBP1
Name	SH3KBP1 binding protein 1
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PP203, Sb1
Ensembl gene	ENSG00000160410
Ensembl biotype	protein_coding
OMIM	617322
Entrez	92799

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 24 protein_coding, 10 retained_intron, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000291842, ENST00000593764, ENST00000594298, ENST00000594862, ENST00000594973, ENST00000595523, ENST00000595631, ENST00000595726, ENST00000595803, ENST00000595874, ENST00000595945, ENST00000596163, ENST00000597325, ENST00000597396, ENST00000597649, ENST00000598201, ENST00000598558, ENST00000598907, ENST00000599575, ENST00000599716, ENST00000599833, ENST00000600320, ENST00000600552, ENST00000600718, ENST00000600733, ENST00000600791, ENST00000602011, ENST00000602239, ENST00000869176, ENST00000869177, ENST00000869178, ENST00000869179, ENST00000869180, ENST00000931024, ENST00000931025, ENST00000943562, ENST00000943563, ENST00000943564, ENST00000943565, ENST00000943566, ENST00000943567

RefSeq mRNA: 1 — MANE Select: NM_138392 NM_138392

CCDS: CCDS12560

Canonical transcript exons

ENST00000291842 — 18 exons

Exon	Start	End
ENSE00001635560	40576873	40576985
ENSE00003008275	40590976	40591397
ENSE00003483950	40577396	40577441
ENSE00003503614	40578154	40578212
ENSE00003519241	40586774	40586944
ENSE00003538511	40577231	40577284
ENSE00003541436	40582351	40582466
ENSE00003563875	40590244	40590422
ENSE00003572557	40588624	40588779
ENSE00003578237	40580324	40580485
ENSE00003579962	40577557	40577630
ENSE00003592427	40590730	40590853
ENSE00003628273	40583601	40583717
ENSE00003636028	40583398	40583485
ENSE00003644638	40580566	40580656
ENSE00003656309	40578462	40578542
ENSE00003659160	40580746	40580936
ENSE00003694510	40589082	40589178

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 99.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.0476 / max 862.5096, expressed in 1815 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175850	35.6384	1812
175851	0.8855	469
175852	0.6998	375
175857	0.6429	69
175859	0.6017	323
175860	0.5582	240
175853	0.2966	122
175856	0.1735	44
175854	0.1611	42
175855	0.1596	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.11	gold quality
leukocyte	CL:0000738	97.94	gold quality
monocyte	CL:0000576	97.92	gold quality
spleen	UBERON:0002106	97.77	gold quality
vermiform appendix	UBERON:0001154	97.34	gold quality
right lung	UBERON:0002167	97.30	gold quality
mucosa of transverse colon	UBERON:0004991	97.25	gold quality
upper lobe of left lung	UBERON:0008952	96.95	gold quality
blood	UBERON:0000178	96.68	gold quality
right lobe of thyroid gland	UBERON:0001119	96.24	gold quality
left uterine tube	UBERON:0001303	96.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.01	gold quality
metanephros cortex	UBERON:0010533	95.96	gold quality
descending thoracic aorta	UBERON:0002345	95.82	gold quality
right coronary artery	UBERON:0001625	95.81	gold quality
ectocervix	UBERON:0012249	95.79	gold quality
lower esophagus mucosa	UBERON:0035834	95.60	gold quality
left lobe of thyroid gland	UBERON:0001120	95.59	gold quality
endocervix	UBERON:0000458	95.57	gold quality
upper lobe of lung	UBERON:0008948	95.51	gold quality
bone marrow cell	CL:0002092	95.50	gold quality
body of uterus	UBERON:0009853	95.48	gold quality
body of stomach	UBERON:0001161	95.41	gold quality
thoracic aorta	UBERON:0001515	95.39	gold quality
ascending aorta	UBERON:0001496	95.36	gold quality
left coronary artery	UBERON:0001626	95.32	gold quality
lymph node	UBERON:0000029	95.13	gold quality
transverse colon	UBERON:0001157	94.96	gold quality
minor salivary gland	UBERON:0001830	94.62	gold quality
omental fat pad	UBERON:0010414	94.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SATB1

miRNA regulators (miRDB)

17 targeting SHKBP1, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-8083	95.93	67.55	694
HSA-MIR-6775-3P	95.76	65.91	982

Literature-anchored findings (GeneRIF, showing 4)

• hSB1 may function as a regulator of cathepsin B-mediated apoptosis. (PMID:16733801)
• SHKBP1 disturbed the translocation of CIN85 to EGFR-containing vesicles. (PMID:21830225)
• Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients. (PMID:25457385)
• Study suggests that an elevated SHKBP1/miR-499a ratio is a molecular signature that characterizes the erlotinib-resistant overall survival of osteosarcoma cells, which may have clinical value as a predictive biomarker. (PMID:31138318)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	SHKBP1	ENSDARG00000105050
mus_musculus	Shkbp1	ENSMUSG00000089832
rattus_norvegicus	Shkbp1	ENSRNOG00000020882
drosophila_melanogaster	CG9467	FBGN0037758
caenorhabditis_elegans		WBGENE00020721

Paralogs (1): KCTD3 (ENSG00000136636)

Protein

Protein identifiers

SH3KBP1-binding protein 1 — Q8TBC3 (reviewed: Q8TBC3)

Alternative names: SETA-binding protein 1

All UniProt accessions (16): Q8TBC3, M0QX42, M0QXA4, M0QYB1, M0QYJ9, M0QZE8, M0QZF2, M0QZF4, M0R0E3, M0R0K4, M0R0S1, M0R0S2, M0R1G0, M0R204, M0R2P6, M0R2U6

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation.

Subunit / interactions. Monomer. Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer. Interacts (via PXXXPR motifs) with SH3KBP1 (via SH3 domains). Directly interacts with cathepsin B/CTSB.

Subcellular location. Lysosome.

Tissue specificity. Widely expressed.

Similarity. Belongs to the KCTD3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TBC3-1	1	yes
Q8TBC3-2	2

RefSeq proteins (1): NP_612401* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR001680	WD40_rpt	Repeat
IPR003131	T1-type_BTB	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR047825	SHKBP1_KCTD3_BTB_POZ	Domain
IPR047876	SHKBP1/KCTD3	Family

Pfam: PF02214

UniProt features (34 total): repeat 8, modified residue 5, helix 5, strand 3, region of interest 2, short sequence motif 2, splice variant 2, sequence conflict 2, initiator methionine 1, chain 1, compositionally biased region 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4CRH	X-RAY DIFFRACTION	1.72

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBC3-F1	74.57	0.42

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 (5): 2, 163, 647, 649, 696

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9013148	CDC42 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: 138 (showing top): GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, AREB6_03, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GGGTGGRR_PAX4_03, PATIL_LIVER_CANCER, NKX61_01, CEBP_Q2, GATA3_01, GOBP_ERBB_SIGNALING_PATHWAY, AML_Q6, YY1_02, HFH4_01, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, RYTAAWNNNTGAY_UNKNOWN

GO Biological Process (2): positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742), protein homooligomerization (GO:0051260)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): lysosome (GO:0005764), plasma membrane (GO:0005886), membrane (GO:0016020)

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
epidermal growth factor receptor signaling pathway	1
regulation of epidermal growth factor receptor signaling pathway	1
positive regulation of ERBB signaling pathway	1
protein complex oligomerization	1
protein binding	1
binding	1
lytic vacuole	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

842 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHKBP1	ZNF177	Q13360	925
SHKBP1	SRPRA	P08240	742
SHKBP1	LGALS4	P56470	706
SHKBP1	HLA-DPA1	P01905	678
SHKBP1	STAG1	Q8WVM7	621
SHKBP1	KCTD19	Q17RG1	615
SHKBP1	BTBD10	Q9BSF8	587
SHKBP1	KCTD11	Q693B1	549
SHKBP1	HLA-A	P01891	548
SHKBP1	HLA-DRA	P01903	530
SHKBP1	TECR	Q9NZ01	529
SHKBP1	TMBIM6	P55061	518
SHKBP1	HLA-B	P01889	507
SHKBP1	PACRGL	Q8N7B6	487
SHKBP1	KCTD20	Q7Z5Y7	452

IntAct

264 interactions, top by confidence:

A	B	Type	Score
PTPN3	YWHAQ	psi-mi:“MI:2364”(proximity)	0.850
CUL3	SHKBP1	psi-mi:“MI:0915”(physical association)	0.850
SHKBP1	CUL3	psi-mi:“MI:0915”(physical association)	0.850
SHKBP1	CUL3	psi-mi:“MI:0914”(association)	0.850
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
SHKBP1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.710
SNX27	MCC	psi-mi:“MI:0914”(association)	0.700
SHKBP1	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.690
PTPN3	MCC	psi-mi:“MI:0914”(association)	0.660
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
SHKBP1	YWHAH	psi-mi:“MI:0914”(association)	0.640
KLHL22	METTL15	psi-mi:“MI:0914”(association)	0.640
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PTPN3	ACOT8	psi-mi:“MI:0914”(association)	0.590
SHKBP1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.590
SHKBP1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.590
SHKBP1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.590
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
PRPF3	SHKBP1	psi-mi:“MI:0915”(physical association)	0.560
SHKBP1	LXN	psi-mi:“MI:0915”(physical association)	0.560
SHKBP1	SHKBP1	psi-mi:“MI:0915”(physical association)	0.560
CUL3	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
TNFAIP3	UBB	psi-mi:“MI:0914”(association)	0.530
ARIH1	SPOP	psi-mi:“MI:0914”(association)	0.530
UBE2M	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
GLTP	AMD1	psi-mi:“MI:0914”(association)	0.530
CUL3	ZSWIM8	psi-mi:“MI:0914”(association)	0.530

BioGRID (165): SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Proximity Label-MS), SHKBP1 (Proximity Label-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS), SHKBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Y7D0, A3KMV1, A6NDN8, B9EHT4, D3YWQ0, F1MAB7, O23702, O54788, O75426, O76075, P04413, P0C5J9, P49897, P55073, Q1LZC5, Q28969, Q2T9Z2, Q2VPJ9, Q39491, Q3MHJ7, Q3TGW2, Q4R327, Q57VU6, Q58CZ0, Q5BIR3, Q5I3B1, Q5R4R7, Q5R686, Q5SPX3, Q5XI74, Q6DN07, Q6NXT1, Q6P7W2, Q6QN11, Q6X4W1, Q7L9B9, Q7TPD7, Q80TL4, Q8K485, Q8TBC3

Diamond homologs: A3KMV1, A4IFB4, A5PKG7, A6H6X4, B1WC97, B5DEL1, D5SHR0, G5EFC3, O65555, P0C5J9, P15388, P17971, P17972, P25122, P48547, P59994, P59995, Q01956, Q03607, Q03719, Q0VD00, Q0VFV7, Q14003, Q14681, Q29RJ0, Q2HJ48, Q2TUM3, Q3URF8, Q4G0X4, Q50H33, Q52PG9, Q54KH0, Q5DTY9, Q5M956, Q5XJ34, Q5ZJP7, Q62897, Q63881, Q63959, Q68DU8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 192 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
Activation of BAD and translocation to mitochondria	6	35.4×	3e-06
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	31.2×	3e-06
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	31.2×	3e-06
Activation of BH3-only proteins	6	23.1×	1e-05
RHO GTPases activate PKNs	7	17.2×	1e-05
Intrinsic Pathway for Apoptosis	7	15.9×	2e-05
DNA Damage Recognition in GG-NER	7	15.5×	2e-05
Assembly and cell surface presentation of NMDA receptors	7	13.8×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein neddylation	8	33.6×	6e-08
regulation of protein neddylation	5	28.0×	2e-04
protein localization to synapse	5	22.9×	3e-04
establishment or maintenance of epithelial cell apical/basal polarity	6	20.9×	2e-04
receptor clustering	5	18.7×	8e-04
regulation of postsynaptic membrane neurotransmitter receptor levels	6	17.8×	2e-04
intracellular protein localization	9	5.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	98
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1996 predictions. Top by Δscore:

Variant	Effect	Δscore
19:40576983:GAG:G	donor_gain	1.0000
19:40576985:GGTG:G	donor_loss	1.0000
19:40576986:G:GG	donor_gain	1.0000
19:40576986:GT:G	donor_loss	1.0000
19:40577207:C:CA	acceptor_gain	1.0000
19:40577394:A:AG	acceptor_gain	1.0000
19:40577395:G:GG	acceptor_gain	1.0000
19:40577437:GAGCA:G	donor_gain	1.0000
19:40577439:GCA:G	donor_gain	1.0000
19:40577442:G:GG	donor_gain	1.0000
19:40577648:G:T	donor_gain	1.0000
19:40578460:A:AG	acceptor_gain	1.0000
19:40578461:G:GG	acceptor_gain	1.0000
19:40578461:GTTC:G	acceptor_gain	1.0000
19:40578540:CAG:C	donor_loss	1.0000
19:40578541:AG:A	donor_loss	1.0000
19:40578542:GGTA:G	donor_loss	1.0000
19:40578543:GTA:G	donor_loss	1.0000
19:40580311:A:AG	acceptor_gain	1.0000
19:40580312:T:G	acceptor_gain	1.0000
19:40580317:A:AG	acceptor_gain	1.0000
19:40580317:ACT:A	acceptor_gain	1.0000
19:40580318:C:G	acceptor_gain	1.0000
19:40580319:T:A	acceptor_gain	1.0000
19:40580322:A:AG	acceptor_gain	1.0000
19:40580322:AGT:A	acceptor_gain	1.0000
19:40580323:G:GT	acceptor_gain	1.0000
19:40580323:GT:G	acceptor_gain	1.0000
19:40580323:GTG:G	acceptor_gain	1.0000
19:40580323:GTGT:G	acceptor_gain	1.0000

AlphaMissense

4543 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:40576967:T:C	L23P	1.000
19:40576976:G:A	G26E	1.000
19:40577232:T:C	F30L	1.000
19:40577233:T:C	F30S	1.000
19:40577234:C:A	F30L	1.000
19:40577234:C:G	F30L	1.000
19:40577254:T:A	L37H	1.000
19:40577560:T:C	F64L	1.000
19:40577561:T:C	F64S	1.000
19:40577562:C:A	F64L	1.000
19:40577562:C:G	F64L	1.000
19:40577564:T:A	I65N	1.000
19:40577564:T:G	I65S	1.000
19:40577567:A:T	D66V	1.000
19:40577570:G:C	R67T	1.000
19:40577570:G:T	R67M	1.000
19:40577571:G:C	R67S	1.000
19:40577571:G:T	R67S	1.000
19:40577584:T:C	F72L	1.000
19:40577586:C:A	F72L	1.000
19:40577586:C:G	F72L	1.000
19:40577597:T:C	L76P	1.000
19:40577606:T:C	L79P	1.000
19:40578191:T:C	F100L	1.000
19:40578193:C:A	F100L	1.000
19:40578193:C:G	F100L	1.000
19:40583468:G:A	G344D	1.000
19:40583468:G:T	G344V	1.000
19:40583687:G:C	A379P	1.000
19:40586801:C:A	A398D	1.000

dbSNP variants (sampled 300 via entrez): RS1000732642 (19:40576530 G>C), RS1001017502 (19:40577130 G>C,T), RS1001106781 (19:40587760 C>T), RS1001483674 (19:40581717 C>G), RS1001535097 (19:40576992 G>A,C), RS1001742621 (19:40579718 G>A,T), RS1001791352 (19:40585121 A>G), RS1001900191 (19:40576877 G>A), RS1001952834 (19:40577078 G>A,T), RS1002237211 (19:40583875 C>T), RS1002660038 (19:40574888 G>A), RS1002667094 (19:40589370 A>G,T), RS1002914475 (19:40575169 G>A), RS1002923264 (19:40591879 A>G,T), RS1003313795 (19:40584696 A>G,T)

Disease associations

OMIM: gene MIM:617322 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
schizophrenia	No Known Disease Relationship	Unknown

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009544_5	Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect)	5.000000e-06
GCST009921_7	Carotid intima media thickness (mean)	1.000000e-10
GCST010083_320	Hemoglobin levels	1.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0009115	tobacco smoke exposure measurement
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	3
Valproic Acid	affects expression, increases expression, increases methylation	3
Air Pollutants	increases abundance, increases expression, decreases expression	2
Smoke	decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Norethindrone Acetate	increases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1
Lead	affects expression, affects splicing	1
Methapyrilene	increases methylation	1
Testosterone	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	affects methylation	1
Antirheumatic Agents	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2FA	Abcam HeLa SHKBP1 KO	Cancer cell line	Female
CVCL_D8A8	Ubigene A-549 SHKBP1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety