Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22926
Gene name Gene Name - the full gene name approved by the HGNC.	Activating transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATF6
Synonyms (NCBI Gene) Gene synonyms aliases	ACHM7, ATF6A, ATP6alpha
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembr

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs367613392	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs749537392	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs761129859	G>A,C	Pathogenic	Intron variant
rs761357250	C>T	Pathogenic	Coding sequence variant, missense variant
rs765383904	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs796065053	T>A	Pathogenic	Missense variant, coding sequence variant
rs797045171	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045172	G>C	Pathogenic	Splice donor variant
rs797045173	->C	Pathogenic	Coding sequence variant, frameshift variant
rs797045174	->A	Pathogenic	Coding sequence variant, frameshift variant
rs869320751	->G	Pathogenic	Splice acceptor variant, coding sequence variant
rs1553227755	->G	Pathogenic	Coding sequence variant, splice acceptor variant
rs1558022158	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1571134523	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571143590	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(215)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000658	hsa-miR-424-5p	Luciferase reporter assay	19956200
MIRT000650	hsa-miR-503-5p	Luciferase reporter assay	19956200
MIRT019158	hsa-miR-335-5p	Microarray	18185580
MIRT045796	hsa-miR-191-5p	CLASH	23622248
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23598416
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT053103	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24299514
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23313552
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23313552
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT615644	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT615643	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT615642	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT615641	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT615640	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT615639	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615638	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT615637	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT615636	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT615635	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT615634	hsa-miR-3689c	HITS-CLIP	23824327
MIRT615633	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT615632	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23313552
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23313552
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT615648	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT615647	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT615646	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT615645	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT615644	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT615643	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT615642	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT615641	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT615640	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT615639	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT615638	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT615637	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT615636	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT615635	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT615634	hsa-miR-3689c	HITS-CLIP	23824327
MIRT615633	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT615632	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT615631	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT804369	hsa-miR-1909	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804371	hsa-miR-221	CLIP-seq
MIRT804372	hsa-miR-222	CLIP-seq
MIRT804373	hsa-miR-3064-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT804376	hsa-miR-3605-5p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT804391	hsa-miR-4776-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq
MIRT804397	hsa-miR-765	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT2480452	hsa-miR-1238	CLIP-seq
MIRT2480453	hsa-miR-1272	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT2480454	hsa-miR-22	CLIP-seq
MIRT2480455	hsa-miR-3121-3p	CLIP-seq
MIRT2480456	hsa-miR-3124-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT2480457	hsa-miR-3132	CLIP-seq
MIRT2480458	hsa-miR-3160-5p	CLIP-seq
MIRT2480459	hsa-miR-3180-5p	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT2480460	hsa-miR-338-3p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2480461	hsa-miR-3714	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT2480462	hsa-miR-4530	CLIP-seq
MIRT2480463	hsa-miR-4659a-3p	CLIP-seq
MIRT2480464	hsa-miR-4659b-3p	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT2480465	hsa-miR-4691-5p	CLIP-seq
MIRT2480466	hsa-miR-4694-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT2480467	hsa-miR-4778-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2480468	hsa-miR-520f	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT2480469	hsa-miR-646	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq
MIRT2177168	hsa-miR-103a	CLIP-seq
MIRT2177169	hsa-miR-107	CLIP-seq
MIRT804367	hsa-miR-1178	CLIP-seq
MIRT804368	hsa-miR-1207-5p	CLIP-seq
MIRT2480453	hsa-miR-1272	CLIP-seq
MIRT1937529	hsa-miR-145	CLIP-seq
MIRT2177170	hsa-miR-15a	CLIP-seq
MIRT2177171	hsa-miR-15b	CLIP-seq
MIRT2177172	hsa-miR-16	CLIP-seq
MIRT1937530	hsa-miR-1825	CLIP-seq
MIRT804369	hsa-miR-1909	CLIP-seq
MIRT2177173	hsa-miR-195	CLIP-seq
MIRT1937531	hsa-miR-199b-5p	CLIP-seq
MIRT804370	hsa-miR-2117	CLIP-seq
MIRT2480454	hsa-miR-22	CLIP-seq
MIRT2480455	hsa-miR-3121-3p	CLIP-seq
MIRT804374	hsa-miR-3128	CLIP-seq
MIRT2480457	hsa-miR-3132	CLIP-seq
MIRT2480458	hsa-miR-3160-5p	CLIP-seq
MIRT2480459	hsa-miR-3180-5p	CLIP-seq
MIRT804375	hsa-miR-3185	CLIP-seq
MIRT2480460	hsa-miR-338-3p	CLIP-seq
MIRT804377	hsa-miR-3622a-3p	CLIP-seq
MIRT804378	hsa-miR-3622b-3p	CLIP-seq
MIRT2480461	hsa-miR-3714	CLIP-seq
MIRT2177174	hsa-miR-424	CLIP-seq
MIRT804379	hsa-miR-4252	CLIP-seq
MIRT804380	hsa-miR-4273	CLIP-seq
MIRT2177175	hsa-miR-4310	CLIP-seq
MIRT804381	hsa-miR-4328	CLIP-seq
MIRT804382	hsa-miR-4427	CLIP-seq
MIRT804383	hsa-miR-4452	CLIP-seq
MIRT2480462	hsa-miR-4530	CLIP-seq
MIRT2480463	hsa-miR-4659a-3p	CLIP-seq
MIRT2480464	hsa-miR-4659b-3p	CLIP-seq
MIRT804384	hsa-miR-4677-5p	CLIP-seq
MIRT804385	hsa-miR-4680-3p	CLIP-seq
MIRT2480466	hsa-miR-4694-3p	CLIP-seq
MIRT804386	hsa-miR-4715-3p	CLIP-seq
MIRT804387	hsa-miR-4720-5p	CLIP-seq
MIRT804388	hsa-miR-4736	CLIP-seq
MIRT804389	hsa-miR-4753-3p	CLIP-seq
MIRT804390	hsa-miR-4763-3p	CLIP-seq
MIRT2480467	hsa-miR-4778-3p	CLIP-seq
MIRT804392	hsa-miR-4799-3p	CLIP-seq
MIRT804393	hsa-miR-494	CLIP-seq
MIRT2177176	hsa-miR-497	CLIP-seq
MIRT2480468	hsa-miR-520f	CLIP-seq
MIRT804394	hsa-miR-574-3p	CLIP-seq
MIRT804395	hsa-miR-622	CLIP-seq
MIRT2480469	hsa-miR-646	CLIP-seq
MIRT804396	hsa-miR-662	CLIP-seq

Show/Hide all(63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	16469704
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11779464
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24269637
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14973138
GO:0001654	Process	Eye development	IMP	26029869
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11163209
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9271374, 10564271
GO:0005515	Function	Protein binding	IPI	16469704, 19543265, 20102225, 22682248, 23661758, 27238082
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11163209, 11256944, 16236796
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758
GO:0005634	Component	Nucleus	TAS	10564271, 22013210
GO:0005635	Component	Nuclear envelope	TAS	10866666
GO:0005654	Component	Nucleoplasm	TAS	10866666
GO:0005783	Component	Endoplasmic reticulum	IDA	11256944, 16236796
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10564271
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	11256944
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	16236796
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10564271
GO:0006457	Process	Protein folding	TAS	10564271
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007165	Process	Signal transduction	TAS	9271374
GO:0007601	Process	Visual perception	IMP	26029869
GO:0010508	Process	Positive regulation of autophagy	IMP	28747345
GO:0016020	Component	Membrane	IDA	11163209
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	11163209
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	TAS
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	11163209, 11256944, 16469704
GO:0034976	Process	Response to endoplasmic reticulum stress	TAS	22013210
GO:0036500	Process	ATF6-mediated unfolded protein response	IEA
GO:0036500	Process	ATF6-mediated unfolded protein response	NAS	32046286
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22013210
GO:0036503	Process	ERAD pathway	NAS	17765680
GO:0042802	Function	Identical protein binding	IPI	20102225, 23661758, 25609649
GO:0043065	Process	Positive regulation of apoptotic process	IDA	14752510
GO:0043565	Function	Sequence-specific DNA binding	IDA	28473536
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11163209, 11256944, 14973138, 16469704
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	22013210
GO:0046982	Function	Protein heterodimerization activity	IPI	16469704
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	23661758
GO:1903891	Process	Regulation of ATF6-mediated unfolded protein response	IEA
GO:1903893	Process	Positive regulation of ATF6-mediated unfolded protein response	IDA	9837962
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
605537	791	ENSG00000118217

Protein

UniProt ID

P18850

Protein name

Cyclic AMP-dependent transcription factor ATF-6 alpha (cAMP-dependent transcription factor ATF-6 alpha) (Activating transcription factor 6 alpha) (ATF6-alpha) [Cleaved into: Processed cyclic AMP-dependent transcription factor ATF-6 alpha]

Protein function

[Cyclic AMP-dependent transcription factor ATF-6 alpha]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00170	bZIP_1	305 → 367	bZIP transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9271374}.

Sequence

MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNL
DFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEE
LDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQ
PKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTV
VQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNV
GSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLD
EVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLG
FSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLN
HELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGS
ELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAINI
NENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATH
VVSTIPESLQ

Sequence length

670

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Lipid and atherosclerosis		ATF6 (ATF6-alpha) activates chaperones ATF6 (ATF6-alpha) activates chaperone genes

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Achromatopsia	achromatopsia 7, achromatopsia	rs761129859, rs797045172, rs765383904, rs146640460, rs869320751, rs1553227755, rs761357250, rs1558022158, rs796065053, rs1571134523, rs797045170, rs797045171, rs1571143590, rs797045173, rs797045174	N/A
retinal dystrophy	Retinal dystrophy	rs1571134523	N/A
Macular dystrophy	macular dystrophy	rs749537392	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cone Dystrophy	cone-rod dystrophy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (101)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Associate	25444553, 31105062
Acidosis	Associate	28134810
Adenocarcinoma	Associate	26559273
Adenoma	Stimulate	28884228
Alzheimer Disease	Associate	29725981
Amyloidosis	Associate	31105062
Amyotrophic Lateral Sclerosis	Stimulate	29725981
Aortic Aneurysm Abdominal	Associate	31239294
Aortic Aneurysm Familial Abdominal 1	Associate	37731512
Arthritis Rheumatoid	Associate	39614150
Asthma	Associate	34525218
Atrial Fibrillation	Inhibit	25523945
Autistic Disorder	Associate	22872700, 29761862
Axial osteomalacia	Associate	34698138
Breast Neoplasms	Associate	32672418
Carcinogenesis	Associate	24636989
Carcinoma Hepatocellular	Associate	16364319, 23924739, 28246472, 30281916, 30854665
Carcinoma Hepatocellular	Inhibit	28629319
Carcinoma Renal Cell	Associate	34716619
Cardiovascular Diseases	Associate	36012132
Cataract	Associate	26351848
CD59 Deficiency	Associate	35703068
Cholesteatoma	Stimulate	37528590
Colitis	Associate	28884228
Colitis Associated Neoplasms	Associate	28884228
Colitis Ulcerative	Associate	28884228
Color Vision Defects	Associate	28028229, 28812650, 30086303, 31237654, 32271167, 32913385, 34360608, 34561305, 36535406, 37372476
Colorectal Neoplasms	Associate	28884228, 30063110, 35883579
Colorectal Neoplasms	Inhibit	31227689
Cone Rod Dystrophies	Associate	28812650, 29769798
Crohn Disease	Associate	31557250
Cystic Fibrosis	Associate	18022401, 38247876
Diabetes Mellitus	Associate	25302688, 32086613
Diabetes Mellitus Type 2	Associate	17440018, 21211013, 21841811
Disease	Associate	31884629
Drug Related Side Effects and Adverse Reactions	Associate	37433773
Dyskinesia Drug Induced	Stimulate	28193519
Esophageal Neoplasms	Associate	31162820
Fetal Growth Retardation	Associate	21907405
Foveal Hypoplasia and Anterior Segment Dysgenesis	Associate	32271167
Glucose Intolerance	Associate	17440018
Glucose Intolerance	Inhibit	32086613
Glucose Metabolism Disorders	Associate	17440018, 29554103
Graves Ophthalmopathy	Associate	36465658
Heart Diseases	Associate	30086303, 35162959
Hodgkin Disease	Associate	21062387
Hypoglycemia	Associate	17440018
Hypoxia	Stimulate	28423496
Idiopathic Pulmonary Fibrosis	Associate	18635891
Immunoglobulin Light chain Amyloidosis	Associate	25157167, 31105062
Inflammation	Associate	30662337, 35185383, 36012132
Inflammatory Bowel Diseases	Associate	22028783
Insulin Resistance	Associate	21841811, 25302688
Leprosy	Associate	30647798
Leprosy Lepromatous	Associate	30647798
Leprosy Tuberculoid	Stimulate	30647798
Leukemia Lymphocytic Chronic B Cell	Associate	27590344
Leukemia Myeloid Acute	Associate	19659458
Lymphoma Non Hodgkin	Associate	28884228, 29725981
Lysosomal Storage Diseases	Associate	38566314
Malnutrition	Associate	31398886
Metabolic Diseases	Associate	38199038
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	36535406
Multiple Myeloma	Associate	36606310
Muscle Neoplasms	Associate	29687616
Myopia	Stimulate	26091066
Myopia	Associate	26351848
Myositis Inclusion Body	Associate	25978849
Myotonic Dystrophy	Associate	17440018
Neoplasm Metastasis	Associate	31029032, 35089606, 37314749
Neoplasms	Associate	16274472, 21746806, 24636989, 30063110, 35089606, 35378132, 38566314
Nerve Degeneration	Associate	26070061
Non Muscle Invasive Bladder Neoplasms	Stimulate	35879690
O'Donnell Pappas syndrome	Associate	31237654
Obesity	Associate	23913943, 25302688, 32086613
Obesity Maternal	Associate	30006153
Osteoporosis	Stimulate	26091066
Osteosarcoma	Associate	31029032
Otitis Media	Associate	37528590
Ovarian Neoplasms	Associate	36149636
Pheochromocytoma	Associate	32571297
Polycystic Ovary Syndrome	Associate	35288480
Pre Eclampsia	Associate	21907405, 24931423
Pre Eclampsia	Stimulate	25675914
Prostatic Neoplasms	Associate	22540830, 35089606, 37314749, 37715829
Prostatic Neoplasms Castration Resistant	Stimulate	35089606
Protein Deficiency	Stimulate	27097866
Pulmonary Arterial Hypertension	Associate	23400395
Refsum Disease Infantile	Associate	28812650
Retinal Cone Dystrophy 1	Associate	31884629
Retinal Degeneration	Associate	26070061
Retinal Diseases	Associate	22956602, 34561305
Retinal Dysplasia	Associate	28884228
Retinitis Pigmentosa	Associate	24664756
Riboflavin Deficiency	Stimulate	36014863
Sarcoma	Associate	16274472
Schizophrenia	Associate	37376599
Scleroderma Diffuse	Stimulate	23400395
Stroke	Associate	30086303
Virus Diseases	Associate	35907573
Vision Disorders	Associate	34561305, 36535406

ATF6 (activating transcription factor 6)