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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	267
Gene name	Autocrine motility factor receptor
Gene symbol	AMFR
Synonyms (NCBI Gene)	GP78RNF45SPG89
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT054343	hsa-miR-376a-5p	ImmunoblotqRT-PCRWestern blot	23093778
MIRT437721	hsa-miR-29a-3p	MicroarrayqRT-PCR	22815788
MIRT437722	hsa-miR-29b-3p	MicroarrayqRT-PCR	22815788
MIRT437723	hsa-miR-29c-3p	MicroarrayqRT-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

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
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:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	22728137
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11724934, 17872946
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IMP	37119330
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	16168377, 17043353
GO:0007165	Process	Signal transduction	TAS	1649192
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	19675569
GO:0007611	Process	Learning or memory	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1649192
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	24424410
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IMP	17157811
GO:0032991	Component	Protein-containing complex	IDA	23382219
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IDA	24810856
GO:0036503	Process	ERAD pathway	IDA	11724934, 17872946
GO:0036503	Process	ERAD pathway	IMP	16168377, 24810856
GO:0036513	Component	Derlin-1 retrotranslocation complex	IDA	17872946
GO:0038023	Function	Signaling receptor activity	IPI	1649192
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	15327770
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IDA	15327770
GO:0042802	Function	Identical protein binding	IPI	17310145, 19223579, 23942235
GO:0043025	Component	Neuronal cell body	IEA
GO:0043130	Function	Ubiquitin binding	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	IDA	15327770
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	Protein-folding chaperone binding	IPI	21636303, 23246001
GO:0051865	Process	Protein autoubiquitination	IDA	24810856
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	17310145, 24424410, 28604676
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	37119330
GO:0061630	Function	Ubiquitin protein ligase activity	TAS	24424410
GO:0070936	Process	Protein K48-linked ubiquitination	IBA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	12847084, 24424410
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
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	IEA
GO:2000638	Process	Regulation of SREBP signaling pathway	ISS

MIM	HGNC	e!Ensembl
603243	463	ENSG00000159461

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:37119330}.

Sequence

MPLLFLERFPWPSLRTYTGLSGLALLGTIISAYRALSQPEAGPGEPDQLTASLQPEPPAP
ARPSAGGPRARDVAQYLLSDSLFVWVLVNTACCVLMLVAKLIQCIVFGPLRVSERQHLKD
KFWNFIFYKFIFIFGVLNVQTVEEVVMWCLWFAGLVFLHLMVQLCKDRFEYLSFSPTTPM
SSHGRVLSLLVAMLLSCCGLAAVCSITGYTHGMHTLAFMAAESLLVTVRTAHVILRYVIH
LWDLNHEGTWEGKGTYVYYTDFVMELTLLSLDLMHHIHMLLFGNIWLSMASLVIFMQLRY
LFHEVQRRIRRHKNYLRVVGNMEARFAVATPEELAVNNDDCAICWDSMQAARKLPCGHLF
HNSCLRSWLEQDTSCPTCRMSLNIADNNRVREEHQGENLDENLVPVAAAEGRPRLNQHNH
FFHFDGSRIASWLPSFSVEVMHTTNILGITQASNSQLNAMAHQIQEMFPQVPYHLVLQDL
QLTRSVEITTDNILEGRIQVPFPTQRSDSIRPALNSPVERPSSDQEEGETSAQTERVPLD
LSPRLEETLDFGEVEVEPSEVEDFEARGSRFSKSADERQRMLVQRKDELLQQARKRFLNK
SSEDDAASESFLPSEGASSDPVTLRRRMLAAAAERRLQKQQTS

Sequence length

643

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Protein processing in endoplasmic reticulum		N-glycan trimming in the ER and Calnexin/Calreticulin cycle ER Quality Control Compartment (ERQC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic paraplegia 89, autosomal recessive	Pathogenic	rs2543563198, rs1961896737, rs2543536595, rs2543520411	RCV003229578 RCV003229579 RCV003229580 RCV003229581	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26136223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16184720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16757438		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	28301499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	31431834		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26136223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	9241080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16204225, 26119938		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17690101, 35639484, 36576071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37753370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11748469, 18279062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	26212029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20574759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21318260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25149074, 28759037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26579829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25200441, 28212872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25200441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25200441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	28212872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25200441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16621797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	31431834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31864301	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37703903	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	1649192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	37703903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30053149, 30595704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37703903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30053149, 30595704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37703903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	20574759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	26579829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16757438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17265125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12962414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24568530, 8980404	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	38277122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16204225, 26119938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11748469, 18279062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23666464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	23666464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	9241080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18279062, 21252914, 26136223, 31431834		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12067203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28656280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	19178793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11668522, 12507552, 16204225, 16325507, 20574759, 23666464, 28191869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11668522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	25689831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	25689831	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39778696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30153072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31431834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28528366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	22313999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23666464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28091582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	21318260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30153072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	18037895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	18037895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28656280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24568530, 8980404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37703903, 9176385	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

AMFR (autocrine motility factor receptor)