BAG4

Summary

BAG4 (BAG cochaperone 4, HGNC:940) is a protein-coding gene on chromosome 8p11.23, encoding BAG family molecular chaperone regulator 4 (O95429). Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release.

The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified.

Source: NCBI Gene 9530 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_004874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:940
Approved symbol	BAG4
Name	BAG cochaperone 4
Location	8p11.23
Locus type	gene with protein product
Status	Approved
Aliases	SODD
Ensembl gene	ENSG00000156735
Ensembl biotype	protein_coding
OMIM	603884
Entrez	9530

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000287322, ENST00000432471, ENST00000521282, ENST00000521311, ENST00000931319, ENST00000931320, ENST00000931321, ENST00000931322

RefSeq mRNA: 2 — MANE Select: NM_004874 NM_001204878, NM_004874

CCDS: CCDS56533, CCDS6104

Canonical transcript exons

ENST00000287322 — 5 exons

Exon	Start	End
ENSE00001028041	38207512	38207766
ENSE00001028042	38209013	38209267
ENSE00001314886	38210008	38213301
ENSE00002093149	38176855	38177139
ENSE00003554288	38192688	38192795

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 96.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7680 / max 181.6554, expressed in 1804 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88475	17.1357	1798
88474	1.1171	690
88478	0.3451	158
88476	0.1701	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	96.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.63	gold quality
postcentral gyrus	UBERON:0002581	95.52	gold quality
parietal lobe	UBERON:0001872	95.13	gold quality
germinal epithelium of ovary	UBERON:0001304	94.76	gold quality
pons	UBERON:0000988	94.66	gold quality
entorhinal cortex	UBERON:0002728	94.29	gold quality
epithelium of nasopharynx	UBERON:0001951	93.91	gold quality
superior frontal gyrus	UBERON:0002661	93.84	gold quality
substantia nigra pars compacta	UBERON:0001965	93.26	gold quality
cerebellar vermis	UBERON:0004720	93.00	gold quality
middle temporal gyrus	UBERON:0002771	92.97	gold quality
parietal pleura	UBERON:0002400	92.64	gold quality
mammary duct	UBERON:0001765	92.50	gold quality
endothelial cell	CL:0000115	91.99	gold quality
secondary oocyte	CL:0000655	91.94	gold quality
superior vestibular nucleus	UBERON:0007227	91.85	gold quality
esophagus squamous epithelium	UBERON:0006920	91.63	gold quality
oocyte	CL:0000023	91.56	gold quality
primary visual cortex	UBERON:0002436	91.10	gold quality
visceral pleura	UBERON:0002401	90.87	gold quality
tibia	UBERON:0000979	90.78	gold quality
pleura	UBERON:0000977	90.31	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.25	gold quality
occipital lobe	UBERON:0002021	90.19	gold quality
pigmented layer of retina	UBERON:0001782	90.09	gold quality
trabecular bone tissue	UBERON:0002483	89.55	gold quality
jejunal mucosa	UBERON:0000399	89.32	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.26	gold quality
urethra	UBERON:0000057	89.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT1, DNMT3B

miRNA regulators (miRDB)

139 targeting BAG4, 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-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3143	99.93	71.96	3104

Literature-anchored findings (GeneRIF, showing 13)

• Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells. (PMID:12017295)
• SODD/BAG-4 is not only a silencer of TNFR1 but also a modulator of CD95 activity, regulating the balance of both death-promoting and -depressing signals (PMID:12706861)
• These data confirm that silencer of death domains (SODD) and death receptor 3 (DR3) are expressed in a regulated manner during renal transplant rejection, and identify DR3 as a potential inducible mediator of tubular inflammation and injury. (PMID:12875962)
• BAG-4 functions as a negative regulator for apobec-1-mediated apoB mRNA editing (PMID:14559896)
• Gene induces transformed phenotype when overexpressed in a cancer breast cell line. (PMID:17178857)
• results of analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs > or =1.0. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 and BAG4. (PMID:17366557)
• Vincristine induces Jurkat cell apoptosis by downregulating expression of SODD protein and priming the death receptor pathway. (PMID:17605853)
• MicroRNA-26a is strongly downregulated in melanoma and induces cell death through repression of silencer of death domains (SODD). (PMID:23190898)
• SODD over-expression might be correlated with the clinical classification, curative effect, and prognosis of ALL cells. (PMID:24737427)
• acid-induced increase in SODD expression and decrease in cell apoptosis may depend on the activation of NOX5-S and NF-kappaB1 p50 in FLO cells (PMID:27756772)
• AGS cells overexpressing BAG4 exhibited a significant increase in the percentage of cells in the G1/G0 peak and transfection of shRNA decrese demonstrated the opposite effect. (PMID:29067445)
• Bcl2-associated athanogene 4 promotes the invasion and metastasis of gastric cancer cells by activating the PI3K/AKT/NF-kappaB/ZEB1 axis. (PMID:34419501)
• SODD Promotes Lung Cancer Tumorigenesis by Activating the PDK1/AKT and RAF/MEK/ERK Signaling. (PMID:37107587)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bag4	ENSDARG00000043179
mus_musculus	Bag4	ENSMUSG00000037316
rattus_norvegicus	Bag4	ENSRNOG00000042560
drosophila_melanogaster	stv	FBGN0086708

Paralogs (2): BAG3 (ENSG00000151929), BAG5 (ENSG00000166170)

Protein

Protein identifiers

BAG family molecular chaperone regulator 4 — O95429 (reviewed: O95429)

Alternative names: Bcl-2-associated athanogene 4, Silencer of death domains

All UniProt accessions (2): O95429, H0YBT1

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria.

Subunit / interactions. Binds to the ATPase domain of HSP/HSC70 chaperones. Binds to the death domain of TNFRSF1A in the absence of TNF and thereby prevents binding of adapter molecules such as TRADD or TRAF2. Binds to the death domain of TNFRSF12. Interacts with PRKN.

Subcellular location. Cytoplasm.

Tissue specificity. Ubiquitous.

Isoforms (2)

UniProt ID	Names	Canonical?
O95429-1	1	yes
O95429-2	2

RefSeq proteins (2): NP_001191807, NP_004865* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003103	BAG_domain	Domain
IPR036533	BAG_dom_sf	Homologous_superfamily
IPR039773	BAG_chaperone_regulator	Family

Pfam: PF02179

UniProt features (26 total): compositionally biased region 7, modified residue 5, mutagenesis site 4, region of interest 4, helix 3, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1M62	SOLUTION NMR
1M7K	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95429-F1	55.41	0.18

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): 7, 40, 53, 108, 185

Mutagenesis-validated functional residues (4):

Position	Phenotype
414	reduces interaction with hsp70.
424	abolishes interaction with hsp70.
438–439	reduces interaction with hsp70.
446	abolishes interaction with hsp70.

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-5655302	Signaling by FGFR1 in disease
R-HSA-75893	TNF signaling
R-HSA-8853336	Signaling by plasma membrane FGFR1 fusions
R-HSA-1226099	Signaling by FGFR in disease
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-1839124	FGFR1 mutant receptor activation
R-HSA-2262752	Cellular responses to stress
R-HSA-3371556	Cellular response to heat stress
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-73887	Death Receptor Signaling
R-HSA-8953897	Cellular responses to stimuli

MSigDB gene sets: 259 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_FIBROBLAST_MIGRATION, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_POSITIVE_REGULATION_OF_FIBROBLAST_MIGRATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_RESPONSE_TO_EPIDERMAL_GROWTH_FACTOR, GOBP_MRNA_MODIFICATION, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION

GO Biological Process (14): protein folding (GO:0006457), positive regulation of fibroblast migration (GO:0010763), positive regulation of actin filament polymerization (GO:0030838), negative regulation of apoptotic process (GO:0043066), positive regulation of cell adhesion (GO:0045785), protein stabilization (GO:0050821), positive regulation of stress fiber assembly (GO:0051496), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), cellular response to tumor necrosis factor (GO:0071356), cellular response to epidermal growth factor stimulus (GO:0071364), protein localization to plasma membrane (GO:0072659), negative regulation of mRNA modification (GO:0090367), ruffle assembly (GO:0097178), obsolete negative regulation of protein targeting to mitochondrion (GO:1903215)

GO Molecular Function (6): adenyl-nucleotide exchange factor activity (GO:0000774), RNA binding (GO:0003723), ubiquitin protein ligase binding (GO:0031625), protein-containing complex binding (GO:0044877), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Cellular response to heat stress	1
Signaling by FGFR in disease	1
Death Receptor Signaling	1
FGFR1 mutant receptor activation	1
Diseases of signal transduction by growth factor receptors and second messengers	1
Signaling by FGFR1 in disease	1
Cellular responses to stimuli	1
Cellular responses to stress	1
Disease	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
cellular process	1
protein maturation	1
fibroblast migration	1
regulation of fibroblast migration	1
positive regulation of cell migration	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
regulation of protein stability	1
positive regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	1
response to tumor necrosis factor	1
cellular response to cytokine stimulus	1
response to epidermal growth factor	1
cellular response to growth factor stimulus	1
protein localization to membrane	1
protein localization to cell periphery	1
mRNA modification	1
regulation of mRNA modification	1
negative regulation of mRNA metabolic process	1
ruffle organization	1
plasma membrane bounded cell projection assembly	1
ATP binding	1
ADP binding	1
ATPase regulator activity	1
nucleic acid binding	1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAG4	TNFRSF1A	P19438	920
BAG4	TCIM	Q9NR00	880
BAG4	BAG2	O95816	853
BAG4	BAG1	Q99933	841
BAG4	HSPA8	P11142	828
BAG4	LSM1	O15116	820
BAG4	HSPA4	P34932	782
BAG4	STUB1	Q9UNE7	738
BAG4	TRADD	Q15628	731
BAG4	FMNL2	Q96PY5	697
BAG4	E2F5	Q15329	619
BAG4	SIAH3	Q8IW03	612
BAG4	PLPP5	Q8NEB5	571
BAG4	TOMM7	Q9P0U1	559
BAG4	ITCH	Q96J02	543

IntAct

400 interactions, top by confidence:

A	B	Type	Score
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
TBC1D7	BAG4	psi-mi:“MI:0915”(physical association)	0.700
BAG4	HSPA2	psi-mi:“MI:0915”(physical association)	0.700
BAG4	C3orf38	psi-mi:“MI:0915”(physical association)	0.670
EDC3	BAG4	psi-mi:“MI:0914”(association)	0.640
BAG4	hspa1a_hspa1b_human-1	psi-mi:“MI:0915”(physical association)	0.600
BAG4		psi-mi:“MI:0915”(physical association)	0.560
BAG4	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
BAG4	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
BAG4	MEI4	psi-mi:“MI:0915”(physical association)	0.560
	BAG4	psi-mi:“MI:0915”(physical association)	0.560
BAG4	HSPA6	psi-mi:“MI:0915”(physical association)	0.560
BAG4	SNRPC	psi-mi:“MI:0915”(physical association)	0.560
ZBTB5	BAG4	psi-mi:“MI:0915”(physical association)	0.560
BAG4	DZIP3	psi-mi:“MI:0915”(physical association)	0.560
BAG4	SNRPB	psi-mi:“MI:0915”(physical association)	0.560
BAG4	RUNX1	psi-mi:“MI:0915”(physical association)	0.560
BAG4	TCL1B	psi-mi:“MI:0915”(physical association)	0.560
BAG4	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
BAG4	SUOX	psi-mi:“MI:0915”(physical association)	0.560
BAG4	ATOSB	psi-mi:“MI:0915”(physical association)	0.560
PGRMC2	BAG4	psi-mi:“MI:0915”(physical association)	0.560
BAG4	DNAJC13	psi-mi:“MI:0914”(association)	0.530
FLYWCH2	BAG4	psi-mi:“MI:0914”(association)	0.530

BioGRID (309): BAG4 (Affinity Capture-RNA), BAG4 (Affinity Capture-RNA), BAG4 (Affinity Capture-MS), BEX1 (Two-hybrid), IL24 (Two-hybrid), LYPD3 (Two-hybrid), BCAS3 (Two-hybrid), NAT2 (Two-hybrid), ATAD2 (Two-hybrid), BAP1 (Two-hybrid), KLK5 (Two-hybrid), RNF20 (Two-hybrid), SCGB3A1 (Two-hybrid), THRSP (Two-hybrid), CASZ1 (Two-hybrid)

ESM2 similar proteins: A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A2T7J2, O08575, O42366, O94602, O95429, O95817, P14653, P17919, P43692, P70056, P79724, P97767, Q01196, Q08775, Q08820, Q13950, Q1KKW8, Q1KKX5, Q1KKZ6, Q1KL10, Q1KL22, Q28GC4, Q28IU6, Q571K4, Q5RFW2, Q60865, Q6BCB4, Q6F2E2, Q6W990, Q75N33, Q75NY9, Q7ZXH3, Q8CI61, Q8JIR6, Q8N5C8

Diamond homologs: O95429, O95817, Q2TA08, Q5F486, Q5QJC9, Q8CI32, Q8CI61, Q9BLJ6, Q9JLV1, Q9UL15, A1CQG2, A1D3C5, A2QQ28, B0XQ72, B8N7E5, G0S9J5, O00308, O14326, O88382, P39940, P46934, P46935, Q0CCL1, Q19404, Q1L8J7, Q2UBP1, Q4WTF3, Q5BDP1, Q5RBF2, Q62940, Q6I6G8, Q76N89, Q7XZU0, Q8BZZ3, Q8CFI0, Q8K4P8, Q92462, Q96PU5, Q9DBH0, Q9H0M0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
DNMT1	“up-regulates quantity by expression”	BAG4	“transcriptional regulation”
DNMT3B	“up-regulates quantity by expression”	BAG4	“transcriptional regulation”
BAG4	“down-regulates activity”	TNFRSF1A	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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
Neddylation	12	7.7×	2e-05
Antigen processing: Ubiquitination & Proteasome degradation	10	5.0×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
COPII vesicle coat assembly	5	34.8×	1e-04
intrinsic apoptotic signaling pathway	6	21.3×	1e-04
G1/S transition of mitotic cell cycle	6	11.9×	1e-03
protein ubiquitination	12	4.9×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

848 predictions. Top by Δscore:

Variant	Effect	Δscore
8:38177137:CAGG:C	donor_loss	1.0000
8:38177139:GGTAA:G	donor_loss	1.0000
8:38177140:G:GA	donor_loss	1.0000
8:38177140:G:GG	donor_gain	1.0000
8:38209006:A:AG	acceptor_gain	1.0000
8:38209008:TCTAG:T	acceptor_loss	1.0000
8:38209010:TA:T	acceptor_loss	1.0000
8:38209011:A:AG	acceptor_gain	1.0000
8:38209012:G:GA	acceptor_gain	1.0000
8:38209012:GA:G	acceptor_gain	1.0000
8:38209012:GAA:G	acceptor_gain	1.0000
8:38209012:GAACC:G	acceptor_gain	1.0000
8:38209263:CCAAG:C	donor_loss	1.0000
8:38209264:CAAGG:C	donor_loss	1.0000
8:38209268:GT:G	donor_loss	1.0000
8:38209991:T:A	acceptor_gain	1.0000
8:38210000:A:AG	acceptor_gain	1.0000
8:38210005:A:AG	acceptor_gain	1.0000
8:38210005:AAG:A	acceptor_gain	1.0000
8:38210006:A:G	acceptor_gain	1.0000
8:38176634:C:CA	donor_gain	0.9900
8:38177135:ACCAG:A	donor_gain	0.9900
8:38177136:CCAG:C	donor_gain	0.9900
8:38177137:CAG:C	donor_gain	0.9900
8:38177138:AG:A	donor_gain	0.9900
8:38177139:GG:G	donor_gain	0.9900
8:38192685:TA:T	acceptor_loss	0.9900
8:38192686:A:AG	acceptor_gain	0.9900
8:38192686:A:G	acceptor_loss	0.9900
8:38192687:G:GA	acceptor_loss	0.9900

AlphaMissense

2906 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:38210317:T:C	F400L	1.000
8:38210319:T:A	F400L	1.000
8:38210319:T:G	F400L	1.000
8:38210366:T:A	L416Q	1.000
8:38210366:T:C	L416P	1.000
8:38210378:T:C	L420P	1.000
8:38210381:T:C	L421S	1.000
8:38210387:T:C	L423P	1.000
8:38210389:G:C	D424H	1.000
8:38210390:A:C	D424A	1.000
8:38210390:A:T	D424V	1.000
8:38210396:T:A	V426D	1.000
8:38210432:G:C	R438T	1.000
8:38210432:G:T	R438I	1.000
8:38210433:A:C	R438S	1.000
8:38210433:A:T	R438S	1.000
8:38210440:G:C	A441P	1.000
8:38210444:T:A	V442D	1.000
8:38210465:T:C	L449P	1.000
8:38210474:T:C	L452S	1.000
8:38210297:T:C	L393P	0.999
8:38210318:T:C	F400S	0.999
8:38210318:T:G	F400C	0.999
8:38210344:T:C	Y409H	0.999
8:38210344:T:G	Y409D	0.999
8:38210351:T:C	L411P	0.999
8:38210354:T:C	L412P	0.999
8:38210357:A:T	E413V	0.999
8:38210360:A:T	E414V	0.999
8:38210366:T:G	L416R	0.999

dbSNP variants (sampled 300 via entrez): RS1000000268 (8:38176068 T>A), RS1000196726 (8:38194258 A>G), RS1000204658 (8:38210743 C>A), RS1000254934 (8:38177093 C>T), RS1000321098 (8:38211008 GTAT>G), RS1000392532 (8:38175889 T>G), RS1000442635 (8:38188170 G>A), RS1000449486 (8:38176224 G>A), RS1000586552 (8:38193102 A>G), RS1000617079 (8:38188981 T>C,G), RS1000792549 (8:38187747 G>A), RS1000860282 (8:38175980 T>C), RS1000917981 (8:38199651 G>C,T), RS1000973392 (8:38206426 A>C), RS1001093797 (8:38199350 C>A)

Disease associations

OMIM: gene MIM:603884 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004521_242	Autism spectrum disorder or schizophrenia	4.000000e-09
GCST004946_16	Schizophrenia	1.000000e-11
GCST006803_65	Schizophrenia	6.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
Cyclosporine	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression, affects cotreatment	1
bisphenol A	affects cotreatment, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
usnic acid	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Amphotericin B	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Calcium Chloride	increases expression	1
Chlorpromazine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	affects expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Menthol	increases expression	1
Paraquat	increases expression	1
Quercetin	decreases expression	1
Thimerosal	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
beta Carotene	decreases expression	1
Staurosporine	decreases 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_SE62	HAP1 BAG4 (-) 1	Cancer cell line	Male
CVCL_SE63	HAP1 BAG4 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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