BASP1

Summary

BASP1 (brain abundant membrane attached signal protein 1, HGNC:957) is a protein-coding gene on chromosome 5p15.1, encoding Brain acid soluble protein 1 (P80723).

This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein.

Source: NCBI Gene 10409 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_006317

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:957
Approved symbol	BASP1
Name	brain abundant membrane attached signal protein 1
Location	5p15.1
Locus type	gene with protein product
Status	Approved
Aliases	NAP-22, NAP22, CAP23, CAP-23
Ensembl gene	ENSG00000176788
Ensembl biotype	protein_coding
OMIM	605940
Entrez	10409

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000322611, ENST00000606445, ENST00000616743, ENST00000869299, ENST00000869300, ENST00000927211, ENST00000964797

RefSeq mRNA: 2 — MANE Select: NM_006317 NM_001271606, NM_006317

CCDS: CCDS3888

Canonical transcript exons

ENST00000322611 — 2 exons

Exon	Start	End
ENSE00001263948	17217631	17217810
ENSE00001263954	17275208	17276834

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 270.1502 / max 3979.6387, expressed in 1698 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55859	242.5986	1695
55858	26.7946	1620
55867	0.2401	86
55868	0.1975	61
55866	0.1748	75
203497	0.1446	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
orbitofrontal cortex	UBERON:0004167	99.94	gold quality
middle temporal gyrus	UBERON:0002771	99.89	gold quality
frontal pole	UBERON:0002795	99.87	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.85	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.83	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.80	gold quality
superior frontal gyrus	UBERON:0002661	99.78	gold quality
parietal lobe	UBERON:0001872	99.65	gold quality
postcentral gyrus	UBERON:0002581	99.62	gold quality
cortical plate	UBERON:0005343	99.62	gold quality
endothelial cell	CL:0000115	99.61	gold quality
occipital lobe	UBERON:0002021	99.61	gold quality
primary visual cortex	UBERON:0002436	99.60	gold quality
ganglionic eminence	UBERON:0004023	99.59	gold quality
corpus epididymis	UBERON:0004359	99.55	gold quality
ventricular zone	UBERON:0003053	99.52	gold quality
pons	UBERON:0000988	99.51	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.48	gold quality
entorhinal cortex	UBERON:0002728	99.47	gold quality
CA1 field of hippocampus	UBERON:0003881	99.44	gold quality
superior vestibular nucleus	UBERON:0007227	99.38	gold quality
epithelium of bronchus	UBERON:0002031	99.37	gold quality
bronchial epithelial cell	CL:0002328	99.34	gold quality
cerebellar vermis	UBERON:0004720	99.33	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.33	gold quality
bronchus	UBERON:0002185	99.29	gold quality
cerebral cortex	UBERON:0000956	99.25	gold quality
neocortex	UBERON:0001950	99.24	gold quality
substantia nigra pars compacta	UBERON:0001965	99.24	gold quality
frontal cortex	UBERON:0001870	99.23	gold quality

Single-cell (SCXA)

Detected in 32 experiment(s), a significant marker in 28.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	3171.99
E-HCAD-5	yes	1984.62
E-HCAD-36	yes	1307.46
E-MTAB-7316	yes	1210.93
E-MTAB-8530	yes	1169.21
E-GEOD-150728	yes	1033.20
E-HCAD-8	yes	828.78
E-GEOD-98556	yes	443.25
E-MTAB-7249	yes	402.11
E-MTAB-7037	yes	169.96
E-MTAB-10287	yes	114.81
E-HCAD-25	yes	85.58
E-HCAD-35	yes	45.54
E-MTAB-6701	yes	36.95
E-GEOD-137537	yes	36.24

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNBL1, MYC, WT1

miRNA regulators (miRDB)

62 targeting BASP1, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
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-3120-5P	100.00	65.56	965
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-510-3P	99.54	70.06	2965

Literature-anchored findings (GeneRIF, showing 25)

• BASP1 can confer WT1 cosuppressor activity in transfection assays, and elimination of endogenous BASP1 expression augments transcriptional activation by WT1. (PMID:14701728)
• proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophrenia and supports the view of a neuritic and synaptic dysfunction in the neuropathology (PMID:18268500)
• Identification of novel aberrant methylation of BASP1 and SRD5A2 for early diagnosis of hepatocellular carcinoma by genome-wide search. (PMID:18949357)
• BASP1 and TPPsig-BASP1 genes were not involved in the etiology of Mobius syndrome. (PMID:19376485)
• BASP1 and SRD5A2 are methylated in early hepatocellular carcinoma (PMID:19956849)
• Results suggest that BASP1 and WT1 play concerted, central roles in directing cell fate during differentiation. Here, BASP1/WT1 work to divert K562 cells away from blood cell lineage toward neuron phenotype. (PMID:21269271)
• Repression of transcription by WT1-BASP1 requires the myristoylation of BASP1 and the PIP2-dependent recruitment of histone deacetylase. (PMID:22939983)
• Findings provide new insights into the function of prohibitin in transcriptional regulation and uncover a BASP1-prohibitin complex that plays an essential role in the PIP2-dependent recruitment of chromatin remodeling activities to the promoter. (PMID:24166496)
• Sequestration by BASP1 renders cells increasingly resistant to abrin toxicity. (PMID:24350992)
• Data suggest methylation status of gene promoters for BASP1 (brain abundant membrane attached signal protein 1) and CDH11 (cadherin 11) in tumor, skin, and metastatic tumor tissue may serve as prognostic biomarkers in patients with advanced melanoma. (PMID:25919928)
• Downregulation of BASP1 expression may play a role in the tumorigenesis of thyroid cancer. (PMID:27270539)
• we uncover a novel polymorphism, rs187843643 (OR = 1.96; 95% CI = [1.54, 2.48]; P = 3.53 x 10-8), associated with melanoma. The SNP rs187842643 lies within a noncoding RNA 177kb downstream of BASP1 (brain associated protein-1). We find that BASP1 expression is suppressed in melanoma as compared with benign nevi, providing additional evidence for a putative role in melanoma pathogenesis. (PMID:28212542)
• data have identified BASP1 as an ERalpha cofactor that has a central role in the transcriptional and antitumourigenic effects of tamoxifen. (PMID:28492543)
• data suggest that BASP1 silencing via promoter methylation may be involved in A/E-mediated leukemogenesis and that BASP1 targeting may be an actionable therapeutic strategy in t(8;21) AML. (PMID:29674693)
• Bioinformatic analysis and clinical data from our study suggest that BASP1 and its putative interaction partner WT1 can be used as biomarkers for predicting outcomes in pancreatic cancer patients. (PMID:30982764)
• The brain acid-soluble protein 1 (BASP1) interferes with the oncogenic capacity of MYC and its binding to calmodulin. (PMID:31944520)
• Targeting positive feedback between BASP1 and EGFR as a therapeutic strategy for lung cancer progression. (PMID:33042262)
• Overexpression of BASP1 Indicates a Poor Prognosis in Head and Neck Squamous Cell Carcinoma. (PMID:33247706)
• Cholesterol is required for transcriptional repression by BASP1. (PMID:34266955)
• BASP1 is up-regulated in tongue squamous cell carcinoma and associated with a poor prognosis. (PMID:34531104)
• BASP1 promotes high glucose-induced endothelial apoptosis in diabetes via activation of EGFR signaling. (PMID:36756695)
• Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-kappaB/MGMT Axis. (PMID:36961398)
• BASP1 expression is associated with poor prognosis and is correlated with immune infiltration in gastric cancer. (PMID:37243901)
• Circ_0008285 silencing suppresses angiotensin II-induced vascular smooth muscle cell apoptosis in thoracic aortic aneurysm via miR-150-5p/BASP1 axis. (PMID:37337843)
• Myeloid-specific ablation of Basp1 ameliorates diet-induced NASH in mice by attenuating pro-inflammatory signaling. (PMID:37505219)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Basp1	ENSMUSG00000045763
rattus_norvegicus	Basp1	ENSRNOG00000066065

Protein

Protein identifiers

Brain acid soluble protein 1 — P80723 (reviewed: P80723)

Alternative names: 22 kDa neuronal tissue-enriched acidic protein, Neuronal axonal membrane protein NAP-22

All UniProt accessions (2): P80723, U3KQP0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane. Cell projection. Growth cone.

Tissue specificity. Brain.

Similarity. Belongs to the BASP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P80723-1	1	yes
P80723-2	2

RefSeq proteins (2): NP_001258535, NP_006308* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008408	BASP1	Family

Pfam: PF05466

UniProt features (32 total): modified residue 11, compositionally biased region 7, cross-link 4, sequence conflict 4, initiator methionine 1, chain 1, region of interest 1, lipid moiety-binding region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P80723-F1	52.18	0.00

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 (16): 31, 36, 40, 164, 170, 172, 176, 195, 196, 205, 219, 2, 25, 84, 97, 163

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9035034	RHOF 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: 510 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_METANEPHROS_DEVELOPMENT, MODULE_255, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GOBP_MESENCHYMAL_TO_EPITHELIAL_TRANSITION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_GROWTH, MODULE_317, GOBP_POSITIVE_REGULATION_OF_HEART_GROWTH

GO Biological Process (12): thorax and anterior abdomen determination (GO:0007356), gonad development (GO:0008406), substantia nigra development (GO:0021762), negative regulation of DNA-templated transcription (GO:0045892), protein homooligomerization (GO:0051260), mesenchymal to epithelial transition (GO:0060231), positive regulation of heart growth (GO:0060421), diaphragm development (GO:0060539), metanephric mesenchyme development (GO:0072075), podocyte differentiation (GO:0072112), supramolecular fiber organization (GO:0097435), positive regulation of metanephric ureteric bud development (GO:2001076)

GO Molecular Function (5): transcription cis-regulatory region binding (GO:0000976), transcription corepressor activity (GO:0003714), calmodulin binding (GO:0005516), protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (15): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), nuclear matrix (GO:0016363), PML body (GO:0016605), nuclear speck (GO:0016607), cell junction (GO:0030054), growth cone (GO:0030426), vesicle (GO:0031982), extracellular exosome (GO:0070062), COP9 signalosome (GO:0008180), membrane (GO:0016020), cell projection (GO:0042995)

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	6
protein binding	2
zygotic determination of anterior/posterior axis, embryo	1
anterior/posterior pattern specification	1
development of primary sexual characteristics	1
animal organ development	1
reproductive structure development	1
midbrain development	1
neural nucleus development	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
protein complex oligomerization	1
epithelial cell differentiation	1
positive regulation of organ growth	1
heart growth	1
regulation of heart growth	1
skeletal muscle organ development	1
respiratory system development	1
metanephros development	1
kidney mesenchyme development	1
renal filtration cell differentiation	1
glomerular epithelial cell differentiation	1
cellular component organization	1
metanephric part of ureteric bud development	1
positive regulation of developmental process	1
regulation of metanephric ureteric bud development	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
nuclear lumen	1
nuclear body	1

Protein interactions and networks

STRING

1144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BASP1	MARCKS	P29966	919
BASP1	GAP43	P17677	890
BASP1	WT1	P19544	796
BASP1	CALML6	Q8TD86	745
BASP1	CALML4	Q96GE6	744
BASP1	CALML3	P27482	736
BASP1	CALML5	Q9NZT1	736
BASP1	CDH18	Q13634	702
BASP1	TAF11	Q15544	694
BASP1	CALM1	P02593	602
BASP1	RPF2	Q9H7B2	574
BASP1	GTF3C6	Q969F1	546
BASP1	MARCKSL1	P49006	538
BASP1	NCAM1	P13591	502
BASP1	SLC60A2	Q5TF39	498

IntAct

123 interactions, top by confidence:

A	B	Type	Score
PKMYT1	CCNB2	psi-mi:“MI:0914”(association)	0.730
VSX1	USP12	psi-mi:“MI:0914”(association)	0.730
LITAF	BASP1	psi-mi:“MI:0915”(physical association)	0.560
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
TWF1	MYO1C	psi-mi:“MI:0914”(association)	0.530
BASP1	ISX	psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
BASP1	AGTR1	psi-mi:“MI:0915”(physical association)	0.370
BASP1	ATXN1	psi-mi:“MI:0915”(physical association)	0.370
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ATP6AP2	TMUB1	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (365): BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), BASP1 (Co-fractionation), HMGN5 (Co-fractionation), BASP1 (Affinity Capture-MS), BASP1 (Affinity Capture-MS)

ESM2 similar proteins: A2QUR1, A2WMG6, B0WQG0, O42932, O77788, P05114, P06180, P06302, P12036, P12274, P12902, P15308, P16527, P23614, P26645, P27864, P29746, P29966, P30009, P34618, P50887, P54938, P80723, P80724, P91027, Q02508, Q05175, Q0JPA6, Q10020, Q17Q32, Q1RM09, Q23794, Q3ZBV4, Q54LY8, Q56WH4, Q56WK6, Q56ZI2, Q5R715, Q5ZIR5, Q6PD99

Diamond homologs: P23614, P80723, P80724, Q05175, Q1RM09, Q91XV3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 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
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	8.7×	5e-03
Regulation of actin dynamics for phagocytic cup formation	5	8.7×	8e-03
Signaling by ALK fusions and activated point mutants	6	8.5×	5e-03
VEGFA-VEGFR2 Pathway	6	7.9×	6e-03
Regulation of PLK1 Activity at G2/M Transition	6	7.2×	7e-03
L1CAM interactions	6	6.8×	8e-03
Clathrin-mediated endocytosis	7	5.6×	8e-03
Signaling by Interleukins	9	5.5×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

840 predictions. Top by Δscore:

Variant	Effect	Δscore
5:17275193:T:TA	acceptor_gain	1.0000
5:17275195:T:TA	acceptor_gain	1.0000
5:17275199:T:A	acceptor_gain	1.0000
5:17275203:TCCA:T	acceptor_gain	1.0000
5:17275204:CCAGA:C	acceptor_gain	1.0000
5:17275205:CAGA:C	acceptor_gain	1.0000
5:17275206:A:AG	acceptor_gain	1.0000
5:17275206:AGAAC:A	acceptor_gain	1.0000
5:17275207:G:A	acceptor_gain	1.0000
5:17275207:G:GT	acceptor_gain	1.0000
5:17275207:GA:G	acceptor_gain	1.0000
5:17275207:GAA:G	acceptor_gain	1.0000
5:17275207:GAAC:G	acceptor_gain	1.0000
5:17275207:GAACT:G	acceptor_gain	1.0000
5:17275199:T:TA	acceptor_loss	0.9900
5:17275202:TTCCA:T	acceptor_gain	0.9900
5:17216910:T:TA	donor_gain	0.9800
5:17216911:A:AA	donor_gain	0.9800
5:17253921:ATCT:A	donor_gain	0.9800
5:17254441:G:GT	donor_gain	0.9800
5:17275210:CTCCA:C	acceptor_gain	0.9800
5:17216922:G:GT	donor_gain	0.9600
5:17260486:T:G	acceptor_gain	0.9600
5:17217807:GCCG:G	donor_gain	0.9500
5:17216893:CCGAG:C	donor_loss	0.9400
5:17216894:CGAG:C	donor_loss	0.9400
5:17216895:GAGGT:G	donor_loss	0.9400
5:17216896:AGGTA:A	donor_loss	0.9400
5:17216897:GGTA:G	donor_loss	0.9400
5:17216898:GTAGC:G	donor_loss	0.9400

AlphaMissense

1468 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:17275235:A:G	K7E	0.997
5:17275237:G:C	K7N	0.997
5:17275237:G:T	K7N	0.997
5:17275250:T:C	Y12H	0.997
5:17275221:G:A	G2E	0.996
5:17275238:A:G	K8E	0.995
5:17275241:A:G	K9E	0.995
5:17275244:A:G	K10E	0.995
5:17275220:G:A	G2R	0.994
5:17275220:G:C	G2R	0.994
5:17275226:A:G	K4E	0.994
5:17275243:G:C	K9N	0.993
5:17275243:G:T	K9N	0.993
5:17275230:T:A	L5H	0.992
5:17275232:A:C	S6R	0.992
5:17275234:C:A	S6R	0.992
5:17275234:C:G	S6R	0.992
5:17275247:G:C	G11R	0.992
5:17275240:G:C	K8N	0.991
5:17275240:G:T	K8N	0.991
5:17275246:G:C	K10N	0.991
5:17275246:G:T	K10N	0.991
5:17275221:G:T	G2V	0.990
5:17275230:T:C	L5P	0.990
5:17275236:A:C	K7T	0.989
5:17275250:T:G	Y12D	0.989
5:17275236:A:T	K7M	0.988
5:17275257:T:A	V14E	0.988
5:17275245:A:T	K10M	0.986
5:17275248:G:A	G11D	0.986

dbSNP variants (sampled 300 via entrez): RS1000050110 (5:17233110 G>A), RS1000055621 (5:17275805 C>G,T), RS1000104004 (5:17238566 C>A,T), RS1000227169 (5:17235075 G>A), RS1000240857 (5:17244135 G>A), RS1000273751 (5:17231911 A>G), RS1000352649 (5:17238282 C>T), RS1000403650 (5:17250692 C>T), RS1000526146 (5:17255754 C>T), RS1000565170 (5:17257896 C>T), RS1000637005 (5:17219287 C>T), RS1000691247 (5:17221385 T>A), RS1000705373 (5:17263995 T>C), RS1000722283 (5:17275594 C>A,T), RS1000745990 (5:17269404 A>C,G)

Disease associations

OMIM: gene MIM:605940 | 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
GCST001715_13	Bipolar disorder with mood-incongruent psychosis	5.000000e-06
GCST002900_3	Obesity in adult survivors of childhood cancer exposed to cranial radiation	1.000000e-07
GCST004142_10	Melanoma	4.000000e-08
GCST008367_4	Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)	2.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases reaction, decreases reaction, increases abundance, increases expression	5
bisphenol A	affects expression, increases abundance, decreases expression, increases expression, affects cotreatment	4
Estradiol	decreases expression, affects cotreatment, increases expression	3
Tretinoin	decreases expression, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment, increases expression	2
Valproic Acid	affects expression, increases expression	2
Thapsigargin	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
ginger extract	affects expression, increases abundance, affects cotreatment	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
trichostatin A	decreases expression, affects cotreatment	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
lariciresinol	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
tebuconazole	decreases expression	1
chloropicrin	decreases expression, increases expression	1
candoxin	decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
MK2i peptide	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1

Clinical trials (associated diseases)

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