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    HEMGN hemogen [ Homo sapiens (human) ]

    Gene ID: 55363, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HEMGNprovided by HGNC
    Official Full Name
    hemogenprovided by HGNC
    Primary source
    HGNC:HGNC:17509
    See related
    Ensembl:ENSG00000136929 MIM:610715; AllianceGenome:HGNC:17509
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDR; EDAG; CT155; EDAG-1
    Summary
    Predicted to be involved in regulation of osteoblast differentiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bone marrow (RPKM 77.2) and testis (RPKM 23.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See HEMGN in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (97926791..97944852, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110098729..110116790, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100689073..100707134, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1596 Neighboring gene forkhead box E1 Neighboring gene VISTA enhancers hs1597 and hs1717 Neighboring gene tRNA methyltransferase O Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28679 Neighboring gene Sharpr-MPRA regulatory region 4249 Neighboring gene CRISPRi-validated cis-regulatory element chr9.1594 Neighboring gene uncharacterized LOC124902226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:100745493-100746375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20110 Neighboring gene uncharacterized LOC124902225 Neighboring gene acidic nuclear phosphoprotein 32 family member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28680 Neighboring gene RNA, U6 small nuclear 918, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cancer/testis antigen HEMGN correlated with immune infiltration serves as a prognostic biomarker in lung adenocarcinoma. Jiang Y, et al. Mol Immunol, 2023 Jan. PMID 36563642
    2. Down-regulation of human NDR gene in megakaryocytic differentiation of erythroleukemia K562 cells. Liu CC, et al. J Biomed Sci, 2004 Jan-Feb. PMID 14730214
    3. EDAG regulates the proliferation and differentiation of hematopoietic cells and resists cell apoptosis through the activation of nuclear factor-kappa B. Li CY, et al. Cell Death Differ, 2004 Dec. PMID 15332117
    4. High expression of EDAG and its significance in AML. An LL, et al. Leukemia, 2005 Aug. PMID 15920494
    5. The GATA site-dependent hemogen promoter is transcriptionally regulated by GATA1 in hematopoietic and leukemia cells. Yang LV, et al. Leukemia, 2006 Mar. PMID 16437149

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cancer/testis antigen HEMGN correlated with immune infiltration serves as a prognostic biomarker in lung adenocarcinoma.
      Title: Cancer/testis antigen HEMGN correlated with immune infiltration serves as a prognostic biomarker in lung adenocarcinoma.
    2. HEMGN and SLC2A1 might be potential diagnostic biomarkers of steroid-induced osteonecrosis of femoral head: study based on WGCNA and DEGs screening.
      Title: HEMGN and SLC2A1 might be potential diagnostic biomarkers of steroid-induced osteonecrosis of femoral head: study based on WGCNA and DEGs screening.
    3. Circ_PSD3 promotes the progression of papillary thyroid carcinoma via the miR-637/HEMGN axis.
      Title: Circ_PSD3 promotes the progression of papillary thyroid carcinoma via the miR-637/HEMGN axis.
    4. EDAG mediates Hsp70 nuclear localization in erythroblasts and rescues dyserythropoiesis in myelodysplastic syndrome.
      Title: EDAG mediates Hsp70 nuclear localization in erythroblasts and rescues dyserythropoiesis in myelodysplastic syndrome.
    5. Using ex vivo culture and HSC transplantation models, study finds that EDAG enhances proliferative potential of human cord blood CD34+ cells, increases survival, prevents cell apoptosis and promotes their repopulating capacity. EDAG overexpression induces rapid entry of CD34+ cells into the cell cycle. Gene expression profile analysis shows that EDAG knockdown leads to down-regulation of positive cell cycle regulators.
      Title: EDAG promotes the expansion and survival of human CD34+ cells.
    6. a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8
      Title: A 7-Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis.
    7. EDAG-1 regulates the proliferation and apoptosis of thyroid carcinoma via the PI3K/Akt signaling pathway.
      Title: Embryonic develop-associated gene 1 is overexpressed and acts as a tumor promoter in thyroid carcinoma.
    8. EDAG forms complex with GATA1 and p300 and increases GATA1 acetylation and transcriptional activity by facilitating the interaction between GATA1 and p300
      Title: EDAG positively regulates erythroid differentiation and modifies GATA1 acetylation through recruiting p300.
    9. EDAG enhances the protein stability of NPM1 via binding to NPM1, which plays a critical role in the anti-apoptosis of leukaemia cells.
      Title: Erythroid differentiation-associated gene interacts with NPM1 (nucleophosmin/B23) and increases its protein stability, resisting cell apoptosis.
    10. EDAG functions as a positive regulator of erythroid/megakaryocytic differentiation in 32D cells associated with the induction of GATA-1 and its target genes
      Title: Over-expression of EDAG in the myeloid cell line 32D: induction of GATA-1 expression and erythroid/megakaryocytic phenotype.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog
    The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    hemogen
    Names
    erythroid differentiation-associated gene protein
    hemopoietic gene protein
    negative differentiation regulator protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018437.5 → NP_060907.2  hemogen

      See identical proteins and their annotated locations for NP_060907.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF306682, AF322875, HY026328
      Consensus CDS
      CCDS6731.1
      UniProtKB/Swiss-Prot
      Q6XAR3, Q86XY5, Q9BXL5, Q9NPC0
      UniProtKB/TrEMBL
      A8K8S6
      Related
      ENSP00000259456.2, ENST00000259456.7

    2. NM_197978.3 → NP_932095.1  hemogen

      See identical proteins and their annotated locations for NP_932095.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF306682
      Consensus CDS
      CCDS6731.1
      UniProtKB/Swiss-Prot
      Q6XAR3, Q86XY5, Q9BXL5, Q9NPC0
      UniProtKB/TrEMBL
      A8K8S6
      Related
      ENSP00000480020.1, ENST00000616898.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      97926791..97944852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      110098729..110116790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363238.1 → XP_054219213.1  hemogen isoform X1

      UniProtKB/Swiss-Prot
      Q6XAR3, Q86XY5, Q9BXL5, Q9NPC0
      UniProtKB/TrEMBL
      A8K8S6

    2. XM_054363236.1 → XP_054219211.1  hemogen isoform X1

      UniProtKB/Swiss-Prot
      Q6XAR3, Q86XY5, Q9BXL5, Q9NPC0
      UniProtKB/TrEMBL
      A8K8S6

    3. XM_054363237.1 → XP_054219212.1  hemogen isoform X1

      UniProtKB/Swiss-Prot
      Q6XAR3, Q86XY5, Q9BXL5, Q9NPC0
      UniProtKB/TrEMBL
      A8K8S6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXL5.1 GenPept UniProtKB/Swiss-Prot:Q9BXL5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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