HFE (GeneID: 3077) | Homo sapiens
Description: homeostatic iron regulator [Source:HGNC Symbol;Acc:HGNC:4886]
Synonyms: MVCD7, HFE1, HLA-H, TFQTL2, HH
Other ID(s): HGNC:4886, ENSG00000010704
Protein Accession Numbers: ENST00000357618.5, NP_001371093, NP_620580, ENST00000352392, ENST00000488199, NP_620577, ENST00000317896, ENST00000461397, NP_620573, ENST00000357618, NP_001287678, NP_620579, ENST00000349999, ENST00000485729, NP_620576, ENST00000309234, ENST00000397022, NP_620572, ENST00000353147, NP_000401, NP_620578, ENST00000336625, ENST00000470149, NP_620575
Statistics: ClinVar(69)
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.
ENST00000309234 ENST00000317896 ENST00000336625 ENST00000349999 ENST00000352392 ENST00000353147 ENST00000357618 ENST00000397022 ENST00000461397 ENST00000470149 ENST00000485729 ENST00000488199 NP_000401 NP_001287678 NP_001371093 NP_620572 NP_620573 NP_620575 NP_620576 NP_620577 NP_620578 NP_620579 NP_620580


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
PF00129 MHC_I Class I Histocompatibility antigen, domains alpha 1 and 2 33-126 CL0343 MHC Mus musculus
PF07654 C1-set Immunoglobulin C1-set domain 130-213 CL0011 Ig Mus musculus

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 ; 0.44 0.69
Birth Weight Pathological Conditions, Signs and Symptoms ; 0.44 0.69
Cardiomyopathy, Dilated Cardiovascular Diseases ; 0.44 0.69
Cholestasis Digestive System Diseases ; 0.44 0.69
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.44 0.69
Hepatitis C Virus Diseases ; Digestive System Diseases ; 0.44 0.69
Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.44 0.69
Lead Poisoning Chemically-Induced Disorders ; 0.44 0.69
Parkinson Disease Nervous System Diseases ; 0.44 0.69
Schizoaffective Disorder Mental Disorders ; 0.44 0.69
Schizophrenia Mental Disorders ; 0.44 0.69
Alcohol abuse Chemically-Induced Disorders ; Mental Disorders ; 0.44 0.69
Porphyria Cutanea Tarda Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.44 0.69
Hepatoerythropoietic Porphyria Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.44 0.69
Conduction disorder of the heart Cardiovascular Diseases ; 0.44 0.69
Familial porphyria cutanea tarda N/A 0.44 0.69
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Idiopathic hypogonadotropic hypogonadism Endocrine System Diseases ; 0.44 0.69
Uroporphyrinogen decarboxylase deficiency N/A 0.44 0.69
Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.44 0.69
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.44 0.69
Cholestasis in newborn N/A 0.44 0.69
Autism Spectrum Disorders Mental Disorders ; 0.44 0.69
Porphyria Cutanea Tarda, Type I Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.44 0.69
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) N/A 0.44 0.69
Hematopoetic Myelodysplasia Hemic and Lymphatic Diseases ; 0.44 0.69
Porphyria, South African type Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.44 0.69
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.44 0.69
HEMOCHROMATOSIS, TYPE 1 N/A 0.44 0.69
NO RESULT FOUND
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