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HEMGN
hemogen
Chromosome 9 Β· 9q22.33
NCBI Gene: 55363Ensembl: ENSG00000136929.13HGNC: HGNC:17509UniProt: Q9BXL5
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleoplasmregulation of osteoblast differentiationcell differentiationhypothyroidismthrombocytopenia 4hemorrhagic diseaseBlackfan-Diamond anemia
✦AI Summary

HEMGN (hemogen) is a nuclear protein that regulates hematopoietic cell proliferation and differentiation 1. It is a direct transcriptional target of HOXB4 and promotes expansion of myeloid progenitor cells 2. HEMGN expression is developmentally regulated through alternative promoters and polyadenylation, with distinct isoforms in hematopoietic cells and testis 1. At the molecular level, HEMGN upregulation by the transcriptional repressor Gfi1 occurs through repression of PU.1, contributing to anti-apoptotic activity independent of p53 3. HEMGN functions as a cancer/testis antigen with prognostic significance in multiple malignancies. In lung adenocarcinoma, high HEMGN expression correlates with better prognosis and associates with immune infiltration by B cells, CD8+ T cells, and dendritic cells 4. In FLT3-ITD-negative acute myeloid leukemia, high HEMGN expression predicts favorable outcomes 5. HEMGN also serves as a potential diagnostic biomarker for steroid-induced osteonecrosis of the femoral head, being downregulated in affected patients 6. In papillary thyroid carcinoma, the circ_PSD3/miR-637/HEMGN axis promotes tumor progression through PI3K/Akt pathway activation 7. HEMGN's role in various hematologic and solid tumors positions it as a clinically relevant biomarker for disease prognosis and potential therapeutic target.

Sources cited
1
HEMGN is a nuclear protein with developmentally regulated isoforms expressed in hematopoietic cells and testis through alternative promoters and polyadenylation
PMID: 14648837
2
Hemgn is a direct transcriptional target of HOXB4 that promotes expansion of myeloid progenitor cells
PMID: 20393131
3
Gfi1 upregulates HEMGN through repression of PU.1, contributing to anti-apoptotic activity independent of p53
PMID: 39374784
4
HEMGN is a cancer/testis antigen with high expression correlating with better prognosis in lung adenocarcinoma and association with immune infiltration
PMID: 36563642
5
High HEMGN expression predicts favorable prognosis in FLT3-ITD-negative acute myeloid leukemia
PMID: 28793301
6
HEMGN is downregulated in steroid-induced osteonecrosis of the femoral head and serves as a potential diagnostic biomarker
PMID: 33451334
7
HEMGN promotes papillary thyroid carcinoma progression via the circ_PSD3/miR-637/HEMGN axis and PI3K/Akt signaling
PMID: 33203523
Disease Associationsβ“˜20
hypothyroidismOpen Targets
0.16Weak
hemorrhagic diseaseOpen Targets
0.14Weak
thrombocytopenia 4Open Targets
0.14Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.06Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.06Suggestive
Constitutional sideroblastic anemiaOpen Targets
0.06Suggestive
Heinz body anemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GYPAProtein interaction83%TRMOProtein interaction82%EPB42Protein interaction80%AHSPProtein interaction75%GYPBProtein interaction75%PPDPFLShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
HEMGNGYPATRMOEPB42AHSPGYPBPPDPFL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BXL5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.49–0.94]
RankingsWhere HEMGN stands among ~20K protein-coding genes
  • #11,165of 20,598
    Most Researched34
  • #8,771of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedHEMGN
Sources retrieved0 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
HEMGN is a nuclear protein with developmentally regulated isoforms expressed in hematopoietic cells and testis through alternative promoters and polyadenylation
PMID: 14648837
0.85
2
Hemgn is a direct transcriptional target of HOXB4 that promotes expansion of myeloid progenitor cells
PMID: 20393131
0.85
3
Gfi1 upregulates HEMGN through repression of PU.1, contributing to anti-apoptotic activity independent of p53
PMID: 39374784
0.85
4
HEMGN is a cancer/testis antigen with high expression correlating with better prognosis in lung adenocarcinoma and association with immune infiltration
PMID: 36563642
0.85
5
High HEMGN expression predicts favorable prognosis in FLT3-ITD-negative acute myeloid leukemia
PMID: 28793301
0.85