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(67) gnomAD(280) COSMIC(95) PTM(3) |
∙ 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 You are here now!
ENST00000470149
ENST00000485729
ENST00000488199
NP_000401
NP_001287678
NP_001371093
NP_620572
NP_620573
NP_620575 You are here now!
NP_620576
NP_620577
NP_620578
NP_620579
NP_620580
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 | 26-202 | CL0343 | MHC | Homo sapiens |
PF07654 | C1-set | Immunoglobulin C1-set domain | 206-289 | CL0011 | Ig | Homo sapiens |
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 |