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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AMFR
autocrine motility factor receptor
Chromosome 16 Β· 16q13
NCBI Gene: 267Ensembl: ENSG00000159461.16HGNC: HGNC:463UniProt: Q9UKV5
187PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumendoplasmic reticulum membranemembraneperinuclear region of cytoplasmspastic paraplegia 89, autosomal recessivebreast carcinomabreast cancerUterine leiomyoma
✦AI Summary

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autocrine motility factor receptor

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spastic paraplegia 89, autosomal recessiveOpen Targets
0.61Moderate
breast carcinomaOpen Targets
0.29Weak
breast cancerOpen Targets
0.23Weak
Uterine leiomyomaOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.22Weak
neuropathyOpen Targets
0.20Weak
optic neuritisOpen Targets
0.18Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
Primary amenorrheaOpen Targets
0.12Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
obesityOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
Ehlers-Danlos syndrome, musculocontractural typeOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
thyroid cancerOpen Targets
0.07Suggestive
in situ carcinomaOpen Targets
0.07Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
Spastic paraplegia 89, autosomal recessiveUniProt
Pathogenic Variants7
NM_001144.6(AMFR):c.707+1G>ALikely pathogenic
Spastic paraplegia 89, autosomal recessive|Nonpapillary renal cell carcinoma|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2024
NM_001144.6(AMFR):c.1092T>A (p.Cys364Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 364
NM_001144.6(AMFR):c.254G>A (p.Trp85Ter)Pathogenic
Spastic paraplegia 89, autosomal recessive
β˜†β˜†β˜†β˜†2023β†’ Residue 85
NM_001144.6(AMFR):c.871_874dup (p.Leu292fs)Pathogenic
Spastic paraplegia 89, autosomal recessive
β˜†β˜†β˜†β˜†2023β†’ Residue 292
NM_001144.6(AMFR):c.1086-97_1380+375delPathogenic
Spastic paraplegia 89, autosomal recessive
β˜†β˜†β˜†β˜†2023
NM_001144.6(AMFR):c.369G>A (p.Trp123Ter)Pathogenic
Spastic paraplegia 89, autosomal recessive
β˜†β˜†β˜†β˜†2023β†’ Residue 123
NM_001144.6(AMFR):c.12del (p.Phe5fs)Pathogenic
Spastic paraplegia 89, autosomal recessive
β˜†β˜†β˜†β˜†2023β†’ Residue 5
View on ClinVar β†—
Related Genes
SEL1LProtein interaction100%OS9Protein interaction100%UBXN7Protein interaction100%FAF2Protein interaction100%BAG6Protein interaction100%AUP1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
72%
Heart
64%
Ovary
52%
Bone Marrow
49%
Lung
41%
Gene Interaction Network
Click a node to explore
AMFRSEL1LOS9UBXN7FAF2BAG6AUP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4G3O Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.37–0.63]
RankingsWhere AMFR stands among ~20K protein-coding genes
  • #2,285of 20,598
    Most Researched187 Β· top quartile
  • #3,163of 5,498
    Most Pathogenic Variants7
  • #4,484of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedAMFR
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Emerging views of mitophagy in immunity and autoimmune diseases.
PMID: 30951392
Autophagy Β· 2020
1.00
2
Reticulophagy and viral infection.
PMID: 39394962
Autophagy Β· 2025
0.96
3
AMFR-mediated Flavivirus NS2A ubiquitination subverts ER-phagy to augment viral pathogenicity.
PMID: 39505910
Nat Commun Β· 2024
0.92
4
Ubiquitination regulates ER-phagy and remodelling of endoplasmic reticulum.
PMID: 37225996
Nature Β· 2023
0.88
5
Gp78 deficiency in hepatocytes alleviates hepatic ischemia-reperfusion injury via suppressing ACSL4-mediated ferroptosis.
PMID: 38065978
Cell Death Dis Β· 2023
0.84