HAMP (hepcidin antimicrobial peptide)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57817
Gene name Hepcidin antimicrobial peptide
Gene symbol HAMP
Synonyms (NCBI Gene)
HEPCHFE2BLEAP1PLTR
Chromosome 19
Chromosome location 19q13.12
Summary The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature p
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs104894695 C>T Pathogenic Coding sequence variant, stop gained
rs104894696 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, benign Coding sequence variant, missense variant
rs763369315 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs1189025914 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT737234 hsa-miR-184 Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCR 33021399
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CEBPA Activation 18671304
GATA4 Activation 21609320
STAT3 Activation 18671304
STAT3 Unknown 16835372
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0002092 Process Positive regulation of receptor internalization IDA 15514116
GO:0005102 Function Signaling receptor binding IPI 15514116, 22682227
GO:0005179 Function Hormone activity IDA 15514116, 22682227, 29237594
GO:0005179 Function Hormone activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606464 15598 ENSG00000105697
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P81172
Protein name Hepcidin (Liver-expressed antimicrobial peptide 1) (LEAP-1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin-25 (Hepc25); Hepcidin-20 (Hepc20)]
Protein function Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting c
PDB 1M4E , 1M4F , 2KEF , 3H0T , 4QAE , 6WBV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06446 Hepcidin 33 → 84 Hepcidin Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine and blood (PubMed:11034317). Expresse
Sequence
Sequence length 84
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Hormone signaling
TGF-beta signaling pathway 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
97
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hemochromatosis type 2B Likely pathogenic; Pathogenic rs200488037, rs1189025914, rs104894695, rs944843686, rs2066319871 RCV003226497
RCV000004504
RCV000004505
RCV000004508
RCV001250720
Hemochromatosis, juvenile, digenic Pathogenic rs1422879641 RCV000004506
Hereditary hemochromatosis Likely pathogenic; Pathogenic rs200488037, rs944843686 RCV002051236
RCV003588556
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HAMP-related disorder Benign; Likely benign; Uncertain significance rs104894696, rs768566070 RCV003974795
RCV003405334
Hemochromatosis type 1 Benign; Likely benign rs104894696 RCV000990194
Hemochromatosis, type 2a, modifier of Benign; Likely benign rs104894696 RCV000004507
Juvenile hemochromatosis Uncertain significance rs886054342 RCV000314099
Show/Hide Text Mining Associations (181)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 38098073
alpha Thalassemia Associate 30517728
Alzheimer Disease Associate 34180415
Anemia Associate 16332970, 18166793, 19093740, 19681654, 20019408, 20299375, 20406921, 20679527, 21239805, 23512600, 24014495, 24119518, 25745821, 25904736, 28210014
View all (9 more)
Anemia Inhibit 19833632
Anemia Dyserythropoietic Congenital Inhibit 15671438
Anemia Hemolytic Associate 17593032, 20026331, 21143959
Anemia hypochromic microcytic Associate 17550864
Anemia Iron Deficiency Associate 17488680, 18603562, 19357398, 20966077, 25588876, 25943891, 29110513, 30630976, 37100605
Anemia Iron Deficiency Inhibit 25745821, 32446932