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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HDC
histidine decarboxylase
Chromosome 15 Β· 15q21.2
NCBI Gene: 3067Ensembl: ENSG00000140287.12HGNC: HGNC:4855UniProt: P19113
63PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histamine biosynthetic processprotein bindingL-histidine catabolic processhistidine decarboxylase activityTourette syndromeplacenta praevianeoplasmcancer
✦AI Summary

Histidine decarboxylase (HDC) is a pyridoxal phosphate-dependent enzyme that catalyzes histamine biosynthesis from the amino acid histidine 1. HDC is expressed in mast cells, basophils, brain neurons (particularly in the hypothalamic tuberomammillary nucleus), and stomach cells 23. The enzyme's expression is tightly regulated by transcription factors GATA2 and MITF, which bind to enhancer elements upstream of the HDC gene to control transcription 4. The GC box within the proximal HDC enhancer is critical for gene expression and is essential for zinc finger transcription factor binding 2. Clinically, HDC function is central to IgE/mast cell-mediated anaphylaxis, as deletion of regulatory elements or transcription factors abolishes anaphylactic responses 24. Rare mutations in HDC are associated with Tourette syndrome, and HDC-knockout mice recapitulate tic-like behavioral abnormalities and neurochemical changes observed in patients 5. In narcolepsy type 1, histamine neuron populations expressing HDC show a 36% increase in number, suggesting compensatory upregulation of wake-promoting histaminergic systems 3. These findings establish HDC as a crucial enzyme linking histamine metabolism to immune responses, neurological function, and sleep-wake regulation.

Sources cited
1
HDC catalyzes histamine formation from histidine using pyridoxal phosphate as cofactor; human HDC gene located on chromosome 15
PMID: 1487235
2
GC box in proximal HDC enhancer is critical for Hdc gene transcription and histamine synthesis in mast cells; essential for anaphylaxis
PMID: 36804390
3
GATA2 and MITF transcription factors regulate Hdc gene expression in mast cells; required for IgE/mast cell-mediated anaphylaxis
PMID: 29277702
4
36% increased number of histamine neurons expressing HDC in narcolepsy type 1; HDC measured in hypothalamic tuberomammillary nucleus
PMID: 37395722
5
HDC mutations cause Tourette syndrome; HDC-knockout mice model TS pathophysiology with behavioral and neurochemical abnormalities
PMID: 35114079
Disease Associationsβ“˜20
Tourette syndromeOpen Targets
0.48Moderate
placenta praeviaOpen Targets
0.34Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.06Suggestive
schizophrenia 19Open Targets
0.06Suggestive
microangiopathy and leukoencephalopathy, pontine, autosomal dominantOpen Targets
0.05Suggestive
skin diseaseOpen Targets
0.05Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
Kleine-Levin SyndromeOpen Targets
0.04Suggestive
colitisOpen Targets
0.04Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
gastric mucosal hypertrophyOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
obesity due to prohormone convertase I deficiencyOpen Targets
0.04Suggestive
myocardial infarctionOpen Targets
0.04Suggestive
gastric carcinomaOpen Targets
0.04Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.03Suggestive
short stature due to primary acid-labile subunit deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants3
NM_002112.4(HDC):c.1140+1G>CPathogenic
Tourette syndrome
β˜…β˜†β˜†β˜†2025
NM_002112.4(HDC):c.32-2A>GLikely pathogenic
Tourette syndrome
β˜…β˜†β˜†β˜†2024
NM_002112.4(HDC):c.951G>A (p.Trp317Ter)Pathogenic
Tourette syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 317
View on ClinVar β†—
Related Genes
HNMTProtein interaction97%AOC1Protein interaction96%CNDP2Protein interaction94%CNDP1Protein interaction92%CPA3Protein interaction88%MS4A2Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
18%
Liver
5%
Heart
1%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
HDCHNMTAOC1CNDP2CNDP1CPA3MS4A2
PROTEIN STRUCTURE
Preparing viewer…
PDB4E1O Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.61LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.44 [0.33–0.61]
RankingsWhere HDC stands among ~20K protein-coding genes
  • #7,372of 20,598
    Most Researched63
  • #4,042of 5,498
    Most Pathogenic Variants3
  • #4,192of 17,882
    Most Constrained (LOEUF)0.61 Β· top quartile
Genes detectedHDC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hydrodynamic chromatography.
PMID: 22708902
Annu Rev Anal Chem (Palo Alto Calif) Β· 2012
1.00
2
The Hdc GC box is critical for Hdc gene transcription and histamine-mediated anaphylaxis.
PMID: 36804390
J Allergy Clin Immunol Β· 2023
0.90
3
Activated Wake Systems in Narcolepsy Type 1.
PMID: 37395722
Ann Neurol Β· 2023
0.80
4
The transcription factors GATA2 and microphthalmia-associated transcription factor regulate Hdc gene expression in mast cells and are required for IgE/mast cell-mediated anaphylaxis.
PMID: 29277702
J Allergy Clin Immunol Β· 2018
0.70
5
Isolation and characterization of the human gene homologous to the Drosophila headcase (hdc) gene in chromosome bands 6q23-q24, a region of common deletion in human pancreatic cancer.
PMID: 11696983
DNA Seq Β· 2001
0.60