AMFR (GeneID: 267) | Homo sapiens
Description: autocrine motility factor receptor [Source:HGNC Symbol;Acc:HGNC:463]
Synonyms: GP78, RNF45
Other ID(s): HGNC:463, ENSG00000159461
Protein Accession Numbers: ENST00000492830, NP_001310440, ENST00000565445, ENST00000290649.5, NP_001135, ENST00000563664, ENST00000290649, NP_001310441, ENST00000567738
Statistics: ClinVar(2) PTM(17)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000290649 ENST00000492830 ENST00000563664 ENST00000565445 ENST00000567738 NP_001135 NP_001310440 NP_001310441 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02845 CUE CUE domain 457-497 CL0214 UBA Homo sapiens
PF13639 zf-RING_2 Ring finger domain 339-379 CL0229 RING Homo sapiens
PF18442 G2BR E3 gp78 Ube2g2-binding region (G2BR) 574-600 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Malignant neoplasm of urinary bladder Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.701 0.31
Bladder Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.701 0.31
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.701 0.31
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.701 0.31
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.701 0.31
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.701 0.31
NO RESULT FOUND
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