HAMP (hepcidin antimicrobial peptide)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57817
Gene name Gene Name - the full gene name approved by the HGNC.
Hepcidin antimicrobial peptide
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAMP
Synonyms (NCBI Gene) Gene synonyms aliases
HEPC, HFE2B, LEAP1, PLTR
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT737234 hsa-miR-184 Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR 33021399
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
CEBPA Activation 18671304
GATA4 Activation 21609320
STAT3 Activation 18671304
STAT3 Unknown 16835372
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606464 15598 ENSG00000105697
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemochromatosis Hemochromatosis, juvenile, digenic rs1422879641 N/A
Hereditary Hemochromatosis hereditary hemochromatosis rs944843686 N/A
Show/Hide Text Mining Associations (181)
Associations from Text Mining Disease 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