AMFR (autocrine motility factor receptor)

Gene

• Entrez ID: 267
• Gene name: Autocrine motility factor receptor
• Gene symbol: AMFR
• Synonyms: GP78, RNF45, SPG89
• Chromosome: 16
• Chromosome location: 16q13
• Summary: This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catal

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054343	hsa-miR-376a-5p	Immunoblot, qRT-PCR, Western blot	23093778
MIRT437721	hsa-miR-29a-3p	Microarray, qRT-PCR	22815788
MIRT437722	hsa-miR-29b-3p	Microarray, qRT-PCR	22815788
MIRT437723	hsa-miR-29c-3p	Microarray, qRT-PCR	22815788
MIRT705737	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT705736	hsa-miR-4759	HITS-CLIP	23313552
MIRT705735	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT705734	hsa-miR-607	HITS-CLIP	23313552
MIRT705733	hsa-miR-6875-3p	HITS-CLIP	23313552
MIRT705737	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT705736	hsa-miR-4759	HITS-CLIP	23313552
MIRT705735	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT705734	hsa-miR-607	HITS-CLIP	23313552
MIRT705733	hsa-miR-6875-3p	HITS-CLIP	23313552
MIRT779745	hsa-miR-1207-3p	CLIP-seq
MIRT779746	hsa-miR-146b-3p	CLIP-seq
MIRT779747	hsa-miR-149	CLIP-seq
MIRT779748	hsa-miR-1827	CLIP-seq
MIRT779749	hsa-miR-198	CLIP-seq
MIRT779750	hsa-miR-2355-5p	CLIP-seq
MIRT779751	hsa-miR-24	CLIP-seq
MIRT779752	hsa-miR-29a	CLIP-seq
MIRT779753	hsa-miR-29b	CLIP-seq
MIRT779754	hsa-miR-29c	CLIP-seq
MIRT779755	hsa-miR-3119	CLIP-seq
MIRT779756	hsa-miR-3140-3p	CLIP-seq
MIRT779757	hsa-miR-3144-5p	CLIP-seq
MIRT779758	hsa-miR-3159	CLIP-seq
MIRT779759	hsa-miR-3173-5p	CLIP-seq
MIRT779760	hsa-miR-3591-3p	CLIP-seq
MIRT779761	hsa-miR-361-5p	CLIP-seq
MIRT779762	hsa-miR-3663-3p	CLIP-seq
MIRT779763	hsa-miR-3667-5p	CLIP-seq
MIRT779764	hsa-miR-3675-5p	CLIP-seq
MIRT779765	hsa-miR-370	CLIP-seq
MIRT779766	hsa-miR-376c	CLIP-seq
MIRT779767	hsa-miR-3936	CLIP-seq
MIRT779768	hsa-miR-3945	CLIP-seq
MIRT779769	hsa-miR-4271	CLIP-seq
MIRT779770	hsa-miR-4274	CLIP-seq
MIRT779771	hsa-miR-4284	CLIP-seq
MIRT779772	hsa-miR-4310	CLIP-seq
MIRT779773	hsa-miR-4433	CLIP-seq
MIRT779774	hsa-miR-455-3p	CLIP-seq
MIRT779775	hsa-miR-4637	CLIP-seq
MIRT779776	hsa-miR-4663	CLIP-seq
MIRT779777	hsa-miR-4722-5p	CLIP-seq
MIRT779778	hsa-miR-4725-3p	CLIP-seq
MIRT779779	hsa-miR-4726-3p	CLIP-seq
MIRT779780	hsa-miR-4728-5p	CLIP-seq
MIRT779781	hsa-miR-4761-5p	CLIP-seq
MIRT779782	hsa-miR-483-5p	CLIP-seq
MIRT779783	hsa-miR-486-3p	CLIP-seq
MIRT779784	hsa-miR-487a	CLIP-seq
MIRT779785	hsa-miR-498	CLIP-seq
MIRT779786	hsa-miR-505	CLIP-seq
MIRT779787	hsa-miR-513a-3p	CLIP-seq
MIRT779788	hsa-miR-539	CLIP-seq
MIRT779789	hsa-miR-548a-3p	CLIP-seq
MIRT779790	hsa-miR-548a-5p	CLIP-seq
MIRT779791	hsa-miR-548aa	CLIP-seq
MIRT779792	hsa-miR-548ab	CLIP-seq
MIRT779793	hsa-miR-548ag	CLIP-seq
MIRT779794	hsa-miR-548ai	CLIP-seq
MIRT779795	hsa-miR-548ak	CLIP-seq
MIRT779796	hsa-miR-548b-5p	CLIP-seq
MIRT779797	hsa-miR-548c-5p	CLIP-seq
MIRT779798	hsa-miR-548d-5p	CLIP-seq
MIRT779799	hsa-miR-548e	CLIP-seq
MIRT779800	hsa-miR-548f	CLIP-seq
MIRT779801	hsa-miR-548h	CLIP-seq
MIRT779802	hsa-miR-548i	CLIP-seq
MIRT779803	hsa-miR-548j	CLIP-seq
MIRT779804	hsa-miR-548n	CLIP-seq
MIRT779805	hsa-miR-548w	CLIP-seq
MIRT779806	hsa-miR-548y	CLIP-seq
MIRT779807	hsa-miR-559	CLIP-seq
MIRT779808	hsa-miR-570	CLIP-seq
MIRT779809	hsa-miR-711	CLIP-seq
MIRT779810	hsa-miR-874	CLIP-seq
MIRT779811	hsa-miR-940	CLIP-seq
MIRT779763	hsa-miR-3667-5p	CLIP-seq
MIRT1555919	hsa-miR-4789-5p	CLIP-seq
MIRT1930105	hsa-miR-1178	CLIP-seq
MIRT1930106	hsa-miR-1205	CLIP-seq
MIRT779745	hsa-miR-1207-3p	CLIP-seq
MIRT1930107	hsa-miR-1236	CLIP-seq
MIRT1930108	hsa-miR-1260	CLIP-seq
MIRT1930109	hsa-miR-1260b	CLIP-seq
MIRT1930110	hsa-miR-188-3p	CLIP-seq
MIRT1930111	hsa-miR-197	CLIP-seq
MIRT1930112	hsa-miR-2115	CLIP-seq
MIRT1930113	hsa-miR-22	CLIP-seq
MIRT1930114	hsa-miR-3156-3p	CLIP-seq
MIRT779758	hsa-miR-3159	CLIP-seq
MIRT1930115	hsa-miR-3161	CLIP-seq
MIRT1930116	hsa-miR-3180	CLIP-seq
MIRT1930117	hsa-miR-3180-3p	CLIP-seq
MIRT1930118	hsa-miR-3196	CLIP-seq
MIRT779760	hsa-miR-3591-3p	CLIP-seq
MIRT779761	hsa-miR-361-5p	CLIP-seq
MIRT1930119	hsa-miR-3618	CLIP-seq
MIRT779763	hsa-miR-3667-5p	CLIP-seq
MIRT1930120	hsa-miR-3682-5p	CLIP-seq
MIRT1930121	hsa-miR-3692	CLIP-seq
MIRT779765	hsa-miR-370	CLIP-seq
MIRT779766	hsa-miR-376c	CLIP-seq
MIRT1930122	hsa-miR-3907	CLIP-seq
MIRT779767	hsa-miR-3936	CLIP-seq
MIRT1930123	hsa-miR-412	CLIP-seq
MIRT1930124	hsa-miR-4263	CLIP-seq
MIRT779769	hsa-miR-4271	CLIP-seq
MIRT779770	hsa-miR-4274	CLIP-seq
MIRT1930125	hsa-miR-4282	CLIP-seq
MIRT1930126	hsa-miR-4301	CLIP-seq
MIRT779773	hsa-miR-4433	CLIP-seq
MIRT1930127	hsa-miR-4438	CLIP-seq
MIRT1930128	hsa-miR-4447	CLIP-seq
MIRT1930129	hsa-miR-4455	CLIP-seq
MIRT1930130	hsa-miR-4472	CLIP-seq
MIRT1930131	hsa-miR-4488	CLIP-seq
MIRT1930132	hsa-miR-4514	CLIP-seq
MIRT1930133	hsa-miR-4521	CLIP-seq
MIRT779774	hsa-miR-455-3p	CLIP-seq
MIRT1930134	hsa-miR-4691-5p	CLIP-seq
MIRT1930135	hsa-miR-4692	CLIP-seq
MIRT1930136	hsa-miR-4697-5p	CLIP-seq
MIRT1930137	hsa-miR-4699-3p	CLIP-seq
MIRT779777	hsa-miR-4722-5p	CLIP-seq
MIRT779778	hsa-miR-4725-3p	CLIP-seq
MIRT1930138	hsa-miR-4735-5p	CLIP-seq
MIRT1930139	hsa-miR-4763-5p	CLIP-seq
MIRT1555919	hsa-miR-4789-5p	CLIP-seq
MIRT779784	hsa-miR-487a	CLIP-seq
MIRT779786	hsa-miR-505	CLIP-seq
MIRT779787	hsa-miR-513a-3p	CLIP-seq
MIRT1930140	hsa-miR-516a-3p	CLIP-seq
MIRT1930141	hsa-miR-520d-5p	CLIP-seq
MIRT1930142	hsa-miR-524-5p	CLIP-seq
MIRT779788	hsa-miR-539	CLIP-seq
MIRT779791	hsa-miR-548aa	CLIP-seq
MIRT1930143	hsa-miR-548l	CLIP-seq
MIRT779808	hsa-miR-570	CLIP-seq
MIRT1930144	hsa-miR-576-5p	CLIP-seq
MIRT1930145	hsa-miR-587	CLIP-seq
MIRT1930146	hsa-miR-609	CLIP-seq
MIRT1930147	hsa-miR-767-3p	CLIP-seq
MIRT779811	hsa-miR-940	CLIP-seq
MIRT779745	hsa-miR-1207-3p	CLIP-seq
MIRT2170916	hsa-miR-1302	CLIP-seq
MIRT2170917	hsa-miR-1305	CLIP-seq
MIRT2170918	hsa-miR-139-5p	CLIP-seq
MIRT2170919	hsa-miR-1468	CLIP-seq
MIRT779749	hsa-miR-198	CLIP-seq
MIRT1930112	hsa-miR-2115	CLIP-seq
MIRT779750	hsa-miR-2355-5p	CLIP-seq
MIRT2170920	hsa-miR-3122	CLIP-seq
MIRT779756	hsa-miR-3140-3p	CLIP-seq
MIRT779758	hsa-miR-3159	CLIP-seq
MIRT1930115	hsa-miR-3161	CLIP-seq
MIRT779760	hsa-miR-3591-3p	CLIP-seq
MIRT779761	hsa-miR-361-5p	CLIP-seq
MIRT1930119	hsa-miR-3618	CLIP-seq
MIRT779763	hsa-miR-3667-5p	CLIP-seq
MIRT1930121	hsa-miR-3692	CLIP-seq
MIRT779765	hsa-miR-370	CLIP-seq
MIRT2170921	hsa-miR-3913-5p	CLIP-seq
MIRT2170922	hsa-miR-3925-3p	CLIP-seq
MIRT779767	hsa-miR-3936	CLIP-seq
MIRT1930124	hsa-miR-4263	CLIP-seq
MIRT2170923	hsa-miR-4275	CLIP-seq
MIRT1930125	hsa-miR-4282	CLIP-seq
MIRT2170924	hsa-miR-4298	CLIP-seq
MIRT1930133	hsa-miR-4521	CLIP-seq
MIRT779774	hsa-miR-455-3p	CLIP-seq
MIRT2170925	hsa-miR-4650-5p	CLIP-seq
MIRT1930134	hsa-miR-4691-5p	CLIP-seq
MIRT779779	hsa-miR-4726-3p	CLIP-seq
MIRT1555919	hsa-miR-4789-5p	CLIP-seq
MIRT779782	hsa-miR-483-5p	CLIP-seq
MIRT779784	hsa-miR-487a	CLIP-seq
MIRT779786	hsa-miR-505	CLIP-seq
MIRT779787	hsa-miR-513a-3p	CLIP-seq
MIRT1930140	hsa-miR-516a-3p	CLIP-seq
MIRT1930144	hsa-miR-576-5p	CLIP-seq
MIRT2170926	hsa-miR-582-5p	CLIP-seq
MIRT779811	hsa-miR-940	CLIP-seq
MIRT1930115	hsa-miR-3161	CLIP-seq
MIRT1930107	hsa-miR-1236	CLIP-seq
MIRT1930108	hsa-miR-1260	CLIP-seq
MIRT1930109	hsa-miR-1260b	CLIP-seq
MIRT2473489	hsa-miR-1281	CLIP-seq
MIRT1930110	hsa-miR-188-3p	CLIP-seq
MIRT2473490	hsa-miR-1915	CLIP-seq
MIRT1930112	hsa-miR-2115	CLIP-seq
MIRT1930114	hsa-miR-3156-3p	CLIP-seq
MIRT1930115	hsa-miR-3161	CLIP-seq
MIRT2473491	hsa-miR-361-3p	CLIP-seq
MIRT1930119	hsa-miR-3618	CLIP-seq
MIRT1930121	hsa-miR-3692	CLIP-seq
MIRT1930126	hsa-miR-4301	CLIP-seq
MIRT1930129	hsa-miR-4455	CLIP-seq
MIRT2473492	hsa-miR-4496	CLIP-seq
MIRT779779	hsa-miR-4726-3p	CLIP-seq
MIRT1930140	hsa-miR-516a-3p	CLIP-seq
MIRT779790	hsa-miR-548a-5p	CLIP-seq
MIRT779792	hsa-miR-548ab	CLIP-seq
MIRT779795	hsa-miR-548ak	CLIP-seq
MIRT779796	hsa-miR-548b-5p	CLIP-seq
MIRT779797	hsa-miR-548c-5p	CLIP-seq
MIRT779798	hsa-miR-548d-5p	CLIP-seq
MIRT779801	hsa-miR-548h	CLIP-seq
MIRT779802	hsa-miR-548i	CLIP-seq
MIRT779803	hsa-miR-548j	CLIP-seq
MIRT779804	hsa-miR-548n	CLIP-seq
MIRT779805	hsa-miR-548w	CLIP-seq
MIRT779806	hsa-miR-548y	CLIP-seq
MIRT779807	hsa-miR-559	CLIP-seq
MIRT1930146	hsa-miR-609	CLIP-seq
MIRT2473493	hsa-miR-933	CLIP-seq
MIRT1930107	hsa-miR-1236	CLIP-seq
MIRT1930108	hsa-miR-1260	CLIP-seq
MIRT1930109	hsa-miR-1260b	CLIP-seq
MIRT2473489	hsa-miR-1281	CLIP-seq
MIRT1930110	hsa-miR-188-3p	CLIP-seq
MIRT2473490	hsa-miR-1915	CLIP-seq
MIRT1930112	hsa-miR-2115	CLIP-seq
MIRT1930114	hsa-miR-3156-3p	CLIP-seq
MIRT1930115	hsa-miR-3161	CLIP-seq
MIRT1930116	hsa-miR-3180	CLIP-seq
MIRT1930117	hsa-miR-3180-3p	CLIP-seq
MIRT1930118	hsa-miR-3196	CLIP-seq
MIRT2473491	hsa-miR-361-3p	CLIP-seq
MIRT1930119	hsa-miR-3618	CLIP-seq
MIRT1930121	hsa-miR-3692	CLIP-seq
MIRT1930122	hsa-miR-3907	CLIP-seq
MIRT1930126	hsa-miR-4301	CLIP-seq
MIRT1930128	hsa-miR-4447	CLIP-seq
MIRT1930129	hsa-miR-4455	CLIP-seq
MIRT1930130	hsa-miR-4472	CLIP-seq
MIRT1930131	hsa-miR-4488	CLIP-seq
MIRT2473492	hsa-miR-4496	CLIP-seq
MIRT1930136	hsa-miR-4697-5p	CLIP-seq
MIRT779779	hsa-miR-4726-3p	CLIP-seq
MIRT1930140	hsa-miR-516a-3p	CLIP-seq
MIRT779790	hsa-miR-548a-5p	CLIP-seq
MIRT779792	hsa-miR-548ab	CLIP-seq
MIRT779795	hsa-miR-548ak	CLIP-seq
MIRT779796	hsa-miR-548b-5p	CLIP-seq
MIRT779797	hsa-miR-548c-5p	CLIP-seq
MIRT779798	hsa-miR-548d-5p	CLIP-seq
MIRT779801	hsa-miR-548h	CLIP-seq
MIRT779802	hsa-miR-548i	CLIP-seq
MIRT779803	hsa-miR-548j	CLIP-seq
MIRT779804	hsa-miR-548n	CLIP-seq
MIRT779805	hsa-miR-548w	CLIP-seq
MIRT779806	hsa-miR-548y	CLIP-seq
MIRT779807	hsa-miR-559	CLIP-seq
MIRT1930146	hsa-miR-609	CLIP-seq
MIRT2473493	hsa-miR-933	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA	21873635
GO:0000209	Process	Protein polyubiquitination	IDA	17310145, 19103148
GO:0000209	Process	Protein polyubiquitination	IMP	24810856
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	11724934, 17681147, 19103148
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	16168377, 17043353
GO:0005515	Function	Protein binding	IPI	11724934, 16168377, 16275660, 16407162, 16462746, 17681147, 19223579, 21343306, 22119785, 22728137, 23223569, 23942235, 24810856, 26712280, 29275994, 31073040
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	22728137
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17872946
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006457	Process	Protein folding	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	16168377, 17043353
GO:0007165	Process	Signal transduction	TAS	1649192
GO:0007568	Process	Aging	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	NAS	1649192
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016567	Process	Protein ubiquitination	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	11724934
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IC	24810856
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IDA	11724934, 17872946
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	IMP	16168377
GO:0030433	Process	Ubiquitin-dependent ERAD pathway	TAS	12847084
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	24424410
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA	21873635
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IMP	17157811
GO:0032092	Process	Positive regulation of protein binding	IMP	24424410
GO:0032991	Component	Protein-containing complex	IDA	23382219
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IDA	24810856
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	17872946
GO:0038023	Function	Signaling receptor activity	IPI	1649192
GO:0042802	Function	Identical protein binding	IPI	17310145, 19223579, 23942235
GO:0043025	Component	Neuronal cell body	IEA
GO:0043130	Function	Ubiquitin binding	IEA
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16275660
GO:0051087	Function	Chaperone binding	IPI	21636303, 23246001
GO:0051865	Process	Protein autoubiquitination	IDA	24810856
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	17310145, 24424410
GO:0061630	Function	Ubiquitin protein ligase activity	TAS	24424410
GO:0070936	Process	Protein K48-linked ubiquitination	IBA	21873635
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	12847084, 24424410
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	31073040
GO:1904288	Function	BAT3 complex binding	IDA	24424410
GO:1904288	Function	BAT3 complex binding	IPI	21636303
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	24424410
GO:2000638	Process	Regulation of SREBP signaling pathway	ISS

Other IDs

• MIM: 603243
• HGNC: 463
• e!Ensembl: ENSG00000159461

Protein

• UniProt ID: Q9UKV5
• Protein name: E3 ubiquitin-protein ligase AMFR (EC 2.3.2.36) (Autocrine motility factor receptor) (AMF receptor) (RING finger protein 45) (gp78)
• Protein function: E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation (PubMed:10456327, PubMed:11724934, PubMed:1
• PDB: 2EJS, 2LVN, 2LVO, 2LVP, 2LVQ, 2LXH, 2LXP, 3FSH, 3H8K, 3TIW, 4G3O, 4LAD, 8T0S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13639	zf-RING_2	339 → 379	Ring finger domain	Domain
  PF02845	CUE	457 → 497	CUE domain	Domain
  PF18442	G2BR	574 → 600	E3 gp78 Ube2g2-binding region (G2BR)	Domain

• Sequence:

  MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPGEPDQLTASLQPEPPAP
  ARPSAGGPRARDVAQYLLSDSLFVWVLVNTACCVLMLVAKLIQCIVFGPLRVSERQHLKD
  KFWNFIFYKFIFIFGVLNVQTVEEVVMWCLWFAGLVFLHLMVQLCKDRFEYLSFSPTTPM
  SSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAFMAAESLLVTVRTAHVILRYVIH
  LWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHHIHMLLFGNIWLSMASLVIFMQLRY
  LFHEVQRRIRRHKNYLRVVGNMEARFAVATPEELAVNNDDCAICWDSMQAARKLPCGHLF
  HNSCLRSWLEQDTSCPTCRMSLNIADNNRVREEHQGENLDENLVPVAAAEGRPRLNQHNH
  FFHFDGSRIASWLPSFSVEVMHTTNILGITQASNSQLNAMAHQIQEMFPQVPYHLVLQDL
  QLTRSVEITTDNILEGRIQVPFPTQRSDSIRPALNSPVERPSSDQEEGETSAQTERVPLD
  LSPRLEETLDFGEVEVEPSEVEDFEARGSRFSKSADERQRMLVQRKDELLQQARKRFLNK
  SSEDDAASESFLPSEGASSDPVTLRRRMLAAAAERRLQKQQTS

• Sequence length: 643

Pathways

KEGG:

Mitophagy - animal
Protein processing in endoplasmic reticulum

Reactome:

N-glycan trimming in the ER and Calnexin/Calreticulin cycle
ER Quality Control Compartment (ERQC)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	22313999
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683

Unknown
Disease name	Disease term	dbSNP ID	References
Urinary bladder cancer	Malignant neoplasm of urinary bladder		9241080
Bladder neoplasm	Bladder Neoplasm		9241080
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		22313999