ATF6B

Summary

ATF6B (activating transcription factor 6 beta, HGNC:2349) is a protein-coding gene on chromosome 6p21.3, encoding Cyclic AMP-dependent transcription factor ATF-6 beta (Q99941). Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane.

The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1388 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 122 total
• MANE Select transcript: NM_004381

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2349
Approved symbol	ATF6B
Name	activating transcription factor 6 beta
Location	6p21.3
Locus type	gene with protein product
Status	Approved
Aliases	G13, ATF6beta
Ensembl gene	ENSG00000213676
Ensembl biotype	protein_coding
OMIM	600984
Entrez	1388

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000375201, ENST00000375203, ENST00000453203, ENST00000468502, ENST00000475705, ENST00000485314, ENST00000492342, ENST00000495579, ENST00000873759, ENST00000873760, ENST00000873761, ENST00000873762, ENST00000873763, ENST00000873764, ENST00000873765, ENST00000873766, ENST00000873767, ENST00000873768, ENST00000873769, ENST00000932422

RefSeq mRNA: 2 — MANE Select: NM_004381 NM_001136153, NM_004381

CCDS: CCDS4737, CCDS47408

Canonical transcript exons

ENST00000293709 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.12.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9702 / max 37.9465, expressed in 548 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72886	6.3761	1751
72885	0.8616	497
72884	0.1086	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	97.12	gold quality
granulocyte	CL:0000094	97.10	gold quality
leukocyte	CL:0000738	97.02	gold quality
right uterine tube	UBERON:0001302	96.78	gold quality
left ovary	UBERON:0002119	96.77	gold quality
right ovary	UBERON:0002118	96.67	gold quality
ovary	UBERON:0000992	96.62	gold quality
right lobe of thyroid gland	UBERON:0001119	96.62	gold quality
spleen	UBERON:0002106	96.56	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.55	gold quality
left lobe of thyroid gland	UBERON:0001120	96.40	gold quality
cerebellar hemisphere	UBERON:0002245	96.39	gold quality
thyroid gland	UBERON:0002046	96.38	gold quality
cerebellar cortex	UBERON:0002129	96.34	gold quality
fallopian tube	UBERON:0003889	96.33	gold quality
gall bladder	UBERON:0002110	96.31	gold quality
cerebellum	UBERON:0002037	96.26	gold quality
endocervix	UBERON:0000458	96.16	gold quality
pituitary gland	UBERON:0000007	96.14	gold quality
lymph node	UBERON:0000029	96.11	gold quality
body of uterus	UBERON:0009853	96.00	gold quality
vermiform appendix	UBERON:0001154	95.96	gold quality
skin of leg	UBERON:0001511	95.96	gold quality
ectocervix	UBERON:0012249	95.96	gold quality
adenohypophysis	UBERON:0002196	95.86	gold quality
zone of skin	UBERON:0000014	95.84	gold quality
fundus of stomach	UBERON:0001160	95.80	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.74	gold quality
body of stomach	UBERON:0001161	95.70	gold quality
vagina	UBERON:0000996	95.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.55

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
CD74
HSPA5	Activation
INS
KDR
MANF	Unknown

miRNA regulators (miRDB)

46 targeting ATF6B, 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-513A-5P	100.00	69.77	2465
HSA-MIR-302E	99.96	70.74	2669
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-MIR-4302	99.89	67.94	1187
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
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-520F-3P	99.82	71.32	1216
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-5187-5P	98.54	67.94	952

Literature-anchored findings (GeneRIF, showing 5)

• unglycosylated ATF6beta may directly facilitate the expression of ERSR genes by losing its repressor function to ATF6alpha (PMID:19693772)
• ATF4 and ATF6beta act synergistically in the negative regulation of placental growth factor mRNA expression (PMID:26648175)
• Polymorphism in the 3’-UTR of LIF but Not in the ATF6B Gene Associates with Schizophrenia Susceptibility: a Case-Control Study and In Silico Analyses. (PMID:32504404)
• Establishment of a reporter system for monitoring activation of the ER stress transducer ATF6beta. (PMID:33894672)
• Loss of ATF6alpha in a human carcinoma cell line is compensated not by its paralogue ATF6beta but by sustained activation of the IRE1 and PERK arms for tumor growth in nude mice. (PMID:36696173)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000101369
mus_musculus	Atf6b	ENSMUSG00000015461
rattus_norvegicus	Atf6b	ENSRNOG00000000431
drosophila_melanogaster	CrebA	FBGN0004396
drosophila_melanogaster	Atf6	FBGN0033010
drosophila_melanogaster	CrebB	FBGN0265784
caenorhabditis_elegans		WBGENE00000222
caenorhabditis_elegans		WBGENE00000793
caenorhabditis_elegans		WBGENE00016162

Paralogs (9): CREB3L3 (ENSG00000060566), CREM (ENSG00000095794), CREB3 (ENSG00000107175), ATF6 (ENSG00000118217), CREB1 (ENSG00000118260), ATF1 (ENSG00000123268), CREB3L4 (ENSG00000143578), CREB3L1 (ENSG00000157613), CREB3L2 (ENSG00000182158)

Protein

Protein identifiers

Cyclic AMP-dependent transcription factor ATF-6 beta — Q99941 (reviewed: Q99941)

Alternative names: Activating transcription factor 6 beta, Protein G13, cAMP response element-binding protein-related protein, cAMP-responsive element-binding protein-like 1

All UniProt accessions (3): A0A1U9X796, Q99941, H0Y7D7

UniProt curated annotations — full annotation on UniProt →

Function. Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane. Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR). Transcription factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress. Binds DNA on the 5’-CCAC[GA]-3’ half of the ER stress response element (ERSE) (5’-CCAATN(9)CCAC[GA]-3’) when NF-Y is bound to ERSE.

Subunit / interactions. Homodimer and heterodimer with ATF6-alpha. The dimer interacts with the nuclear transcription factor Y (NF-Y) trimer through direct binding to NF-Y subunit C (NF-YC).

Subcellular location. Endoplasmic reticulum membrane Nucleus.

Tissue specificity. Ubiquitous.

Post-translational modifications. N-glycosylated. During unfolded protein response, a fragment of approximately 60 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage is probably performed sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) proteases.

Domain organisation. The basic domain functions as a nuclear localization signal. The basic leucine-zipper domain is sufficient for association with the NF-Y trimer and binding to ERSE.

Similarity. Belongs to the bZIP family. ATF subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99941-1	2	yes
Q99941-2	1

RefSeq proteins (2): NP_001129625, NP_004372* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004827	bZIP	Domain
IPR046347	bZIP_sf	Homologous_superfamily
IPR051882	ATF_bZIP_TF	Family

Pfam: PF00170

UniProt features (34 total): region of interest 9, glycosylation site 5, compositionally biased region 4, sequence conflict 4, site 3, chain 2, topological domain 2, initiator methionine 1, modified residue 1, splice variant 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99941-F1	55.31	0.14

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 410 (important for cleavage by mbtps2); 413 (important for cleavage by mbtps2); 440–441 (cleavage; by mbtps1)

Post-translational modifications (1): 2

Glycosylation sites (5): 476, 505, 610, 627, 676

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8874177	ATF6B (ATF6-beta) activates chaperones
R-HSA-2262752	Cellular responses to stress
R-HSA-381119	Unfolded Protein Response (UPR)
R-HSA-8953897	Cellular responses to stimuli

MSigDB gene sets: 190 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, RNGTGGGC_UNKNOWN, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, MORF_RAD51L3, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_ER_NUCLEUS_SIGNALING_PATHWAY, MORF_CTSB, MORF_IL4, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, MODULE_157

GO Biological Process (10): regulation of transcription by RNA polymerase II (GO:0006357), signal transduction (GO:0007165), endoplasmic reticulum unfolded protein response (GO:0030968), response to endoplasmic reticulum stress (GO:0034976), ATF6-mediated unfolded protein response (GO:0036500), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of ATF6-mediated unfolded protein response (GO:1903892), regulation of DNA-templated transcription (GO:0006355), response to unfolded protein (GO:0006986), regulation of ATF6-mediated unfolded protein response (GO:1903891)

GO Molecular Function (8): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (12): Golgi membrane (GO:0000139), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), protein-DNA complex (GO:0032993), RNA polymerase II transcription regulator complex (GO:0090575), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Unfolded Protein Response (UPR)	1
Cellular responses to stimuli	1
Cellular responses to stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
intracellular membrane-bounded organelle	3
cytoplasm	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
ATF6-mediated unfolded protein response	2
nuclear lumen	2
endomembrane system	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular response to unfolded protein	1
response to endoplasmic reticulum stress	1
intracellular signal transduction	1
cellular response to stress	1
ER-nucleus signaling pathway	1
endoplasmic reticulum unfolded protein response	1
positive regulation of DNA-templated transcription	1
negative regulation of endoplasmic reticulum unfolded protein response	1
regulation of ATF6-mediated unfolded protein response	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
response to topologically incorrect protein	1
regulation of endoplasmic reticulum unfolded protein response	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1

Protein interactions and networks

STRING

982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATF6B	XBP1	P17861	853
ATF6B	MBTPS2	O43462	825
ATF6B	HSPA5	P11021	814
ATF6B	ERN1	O75460	807
ATF6B	MBTPS1	Q14703	784
ATF6B	EDEM1	Q92611	776
ATF6B	HSP90B1	P14625	762
ATF6B	EIF2AK3	Q9NZJ5	750
ATF6B	ERN2	Q76MJ5	745
ATF6B	TNXB	P22105	706
ATF6B	ATF5	Q9Y2D1	680
ATF6B	CALR	P27797	666
ATF6B	BHLHA15	Q7RTS1	662
ATF6B	ATF4	P18848	642
ATF6B	CYP21A2	P04033	638

IntAct

53 interactions, top by confidence:

A	B	Type	Score
	ATF6B	psi-mi:“MI:0915”(physical association)	0.540
	ATF6B	psi-mi:“MI:0403”(colocalization)	0.540
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
BTNL3	FAM171A2	psi-mi:“MI:0914”(association)	0.530
TBC1D15	MYO9A	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
ERLEC1	ATF6	psi-mi:“MI:0914”(association)	0.530
TBC1D15	UBXN8	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
ATF6B	CREBZF	psi-mi:“MI:0407”(direct interaction)	0.440
ATF6B	XBP1	psi-mi:“MI:0407”(direct interaction)	0.440
ATF6B	ATF6	psi-mi:“MI:0407”(direct interaction)	0.440
ATF6B	ATF6B	psi-mi:“MI:0407”(direct interaction)	0.440
XBP1	ATF6B	psi-mi:“MI:0407”(direct interaction)	0.440
ATF6	ATF6B	psi-mi:“MI:0407”(direct interaction)	0.440
CDK6	ATF6B	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
HSPA14	SURF6	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
OS9	GXYLT2	psi-mi:“MI:0914”(association)	0.350
OR1M1	NBAS	psi-mi:“MI:0914”(association)	0.350
ZDHHC12	NBAS	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350

BioGRID (100): ATF6B (Affinity Capture-RNA), ATF6B (Affinity Capture-RNA), ATF6B (Affinity Capture-MS), ATF6B (Affinity Capture-MS), TEX15 (Affinity Capture-MS), CPT2 (Affinity Capture-MS), OXSM (Affinity Capture-MS), GLS (Affinity Capture-MS), AK4 (Affinity Capture-MS), RWDD2B (Affinity Capture-MS), LYRM7 (Affinity Capture-MS), RAB2A (Affinity Capture-MS), PICALM (Affinity Capture-MS), ATF6B (Affinity Capture-MS), ATF6B (Affinity Capture-MS)

ESM2 similar proteins: A0JPB5, A2A699, A5PLA0, A6QPA0, A8MVW0, B0BN44, B4DS77, D3ZZP4, O35451, P04921, P28906, Q06186, Q08DP3, Q08EA8, Q13113, Q1LVN1, Q28270, Q5F3A4, Q5FVQ7, Q5HZE8, Q5R5B8, Q60846, Q640B5, Q64314, Q7TNI2, Q810F0, Q86VZ4, Q8C4Q9, Q8CB67, Q8IUW5, Q8K064, Q8K201, Q8K2J7, Q8NC54, Q8NEA5, Q8R138, Q8TBP5, Q8WWG9, Q96L08, Q99941

Diamond homologs: F6VAN0, G3V909, O35451, P18850, Q5FVM5, Q6Z312, Q91XE9, Q99941, Q9D2A5, Q9M7Q2, Q08CW8, Q1LYG4, Q3SYZ3, Q502F0, Q5RCM9, Q5UEM7, Q5UEM8, Q68CJ9, Q6QDP7, Q70SY1, Q8BH52, Q8TEY5, A1L224, A2VD01, O43889, O44743, P29747, Q4JFH9, Q61817, Q66HA2, Q8SQ19, Q96BA8, Q9Z125, P27699, Q03060, Q03061, Q1LZH5, Q54RZ9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATF6B	“up-regulates quantity by expression”	HSPA5	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 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.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	8	28.4×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2560 predictions. Top by Δscore:

Variant	Effect	Δscore
6:32116699:CTCA:C	donor_loss	1.0000
6:32116702:A:AC	donor_gain	1.0000
6:32116702:AC:A	donor_gain	1.0000
6:32116702:ACC:A	donor_gain	1.0000
6:32116703:C:CA	donor_loss	1.0000
6:32116703:C:CC	donor_gain	1.0000
6:32116703:CC:C	donor_gain	1.0000
6:32116703:CCC:C	donor_gain	1.0000
6:32116703:CCCT:C	donor_gain	1.0000
6:32116703:CCCTT:C	donor_gain	1.0000
6:32116735:T:TA	donor_gain	1.0000
6:32116736:C:A	donor_gain	1.0000
6:32116813:TCC:T	acceptor_gain	1.0000
6:32116814:CC:C	acceptor_gain	1.0000
6:32116814:CCC:C	acceptor_gain	1.0000
6:32116815:CC:C	acceptor_gain	1.0000
6:32116815:CCTA:C	acceptor_loss	1.0000
6:32116816:C:CC	acceptor_gain	1.0000
6:32116817:T:G	acceptor_loss	1.0000
6:32116822:A:T	acceptor_gain	1.0000
6:32117105:CTT:C	acceptor_gain	1.0000
6:32117132:T:C	acceptor_gain	1.0000
6:32117132:T:TC	acceptor_gain	1.0000
6:32117400:CAAGC:C	acceptor_gain	1.0000
6:32117402:AGC:A	acceptor_gain	1.0000
6:32117403:GC:G	acceptor_gain	1.0000
6:32117404:CC:C	acceptor_gain	1.0000
6:32117404:CCTG:C	acceptor_loss	1.0000
6:32117405:C:CC	acceptor_gain	1.0000
6:32117405:C:CG	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000045365 (6:32119304 G>T), RS1000704648 (6:32123040 A>G), RS1000814463 (6:32129672 G>A,C), RS1000856174 (6:32127768 C>G,T), RS1001136560 (6:32128138 G>A,T), RS1001742142 (6:32123839 G>T), RS1002089668 (6:32124113 T>A), RS1002257457 (6:32116910 C>A,T), RS1002545913 (6:32119845 G>A), RS1002892200 (6:32122220 T>C), RS1003009657 (6:32115022 T>C), RS1003039092 (6:32122801 A>G), RS1003091663 (6:32122523 A>G), RS1003783910 (6:32121087 T>G), RS1003819924 (6:32125091 G>A)

Disease associations

OMIM: gene MIM:600984 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST001942_21	Prostate cancer	5.000000e-09
GCST001986_2	Age-related macular degeneration	2.000000e-10
GCST002100_3	Atopic dermatitis	3.000000e-14
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_118	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_170	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_173	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_226	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST004602_52	Mean corpuscular volume	3.000000e-13
GCST005540_1	Sarcoidosis (Lofgren’s syndrome)	4.000000e-66
GCST005541_20	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	3.000000e-33
GCST005542_1	Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations)	7.000000e-06
GCST005580_273	Intraocular pressure	5.000000e-10
GCST006575_38	Takayasu arteritis	1.000000e-06
GCST007329_40	Automobile speeding propensity	2.000000e-12
GCST009731_27	Blood protein levels in cardiovascular risk	6.000000e-09
GCST010479_74	Coronary artery disease	3.000000e-09
GCST90002392_750	Mean corpuscular volume	5.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0008579	risk-taking behaviour
EFO:0008173	interleukin 16 measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Arsenic	affects binding, increases abundance, increases reaction, increases cleavage, increases expression (+2 more)	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
beta-N-methylamino-L-alanine	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects methylation	1
Nonidet P-40	increases expression	1
kojic acid	decreases expression	1
fisetin	increases expression, decreases reaction	1
1,2-bis(2-aminophenoxy)ethane-N,N,N’,N’-tetraacetic acid	decreases reaction, increases expression	1
arsenic trichloride	affects reaction, affects binding, increases abundance, increases reaction, increases cleavage (+1 more)	1
jinfukang	affects cotreatment, increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	increases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Amiodarone	increases expression	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Folic Acid	affects expression	1
Methotrexate	increases expression	1
Ouabain	increases expression	1
Ozone	increases expression	1
Quercetin	increases expression	1
Serine	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_D8HN	Ubigene HCT 116 ATF6B KO	Cancer cell line	Male
CVCL_D9Y2	Ubigene HeLa ATF6B KO	Cancer cell line	Female

Clinical trials (associated diseases)

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