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HEMGN Gene(Protein Coding)

Hemogen

GCID:
GC09M097927
GIFtS:
44
Genes Participants
UDN Logo

Aliases for HEMGN Gene

Aliases for HEMGN Gene

  • Hemogen 2 3 3 5
  • Erythroid Differentiation-Associated Gene Protein 3 4
  • Negative Differentiation Regulator Protein 3 4
  • Hemopoietic Gene Protein 3 4
  • EDAG-1 3 4
  • EDAG 3 4
  • NDR 3 4
  • CT155 3

External Ids for HEMGN Gene

Previous GeneCards Identifiers for HEMGN Gene

  • GC09M091514
  • GC09M092432
  • GC09M094146
  • GC09M096068
  • GC09M097768
  • GC09M099729
  • GC09M100689
  • GC09M070290

Summaries for HEMGN Gene

GeneCards Summary for HEMGN Gene

HEMGN (Hemogen) is a Protein Coding gene. Diseases associated with HEMGN include Isolated Cleft Lip.

UniProtKB/Swiss-Prot for HEMGN Gene

  • Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB).

Gene Wiki entry for HEMGN Gene

Additional gene information for HEMGN Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEMGN Gene

Genomics for HEMGN Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HEMGN Gene

Promoters and enhancers for HEMGN Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09I097932 Promoter/Enhancer 1.7 EPDnew ENCODE dbSUPER 550.4 +6.2 6220 11.6 HDGF PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 E2F8 HEMGN ENSG00000236896 TRMO ANP32B ANKS6 FOXE1
GH09I097944 Promoter/Enhancer 1.3 EPDnew dbSUPER 550.8 +0.0 43 0.1 HDAC1 MEIS2 LEF1 PKNOX1 ATF1 NFATC3 ARNT TAL1 FOSL1 TCF12 HEMGN TRMO
GH09I097918 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +23.7 23677 5.9 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 TRMO NCBP1 TSTD2 ZNF322P1 NUTM2G MFSD14C ZNF782 ANP32B ENSG00000236896 HEMGN
GH09I097501 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 +441.4 441430 4.7 HDGF PKNOX1 FOXA2 ARNT FEZF1 YY1 POLR2B ZNF766 JUNB ZNF592 TMOD1 HEMGN VN1R51P ANP32B LOC105376168
GH09I098070 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.6 -128.8 -128821 5.7 HDGF PKNOX1 CLOCK FOXA2 YBX1 ZNF121 ZNF207 ZNF143 FOS RXRA TRIM14 TBC1D2 RNU6-918P CORO2A TSTD2 HEMGN NANS PIR35853 GC09M098254 GC09M098251
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEMGN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEMGN gene promoter:

Genomic Locations for HEMGN Gene

Genomic Locations for HEMGN Gene
chr9:97,926,791-97,944,915
(GRCh38/hg38)
Size:
18,125 bases
Orientation:
Minus strand
chr9:100,689,073-100,707,138
(GRCh37/hg19)

Genomic View for HEMGN Gene

Genes around HEMGN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEMGN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEMGN Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HEMGN Gene

Proteins for HEMGN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HEMGN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXL5-HEMGN_HUMAN
    Recommended name:
    Hemogen
    Protein Accession:
    Q9BXL5
    Secondary Accessions:
    • Q6XAR3
    • Q86XY5
    • Q9NPC0

    Protein attributes for HEMGN Gene

    Size:
    484 amino acids
    Molecular mass:
    55341 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF71041.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG35488.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for HEMGN Gene

Protein Expression for HEMGN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HEMGN Gene

No Post-translational modifications

Other Protein References for HEMGN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEMGN Gene

Domains & Families for HEMGN Gene

Gene Families for HEMGN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEMGN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEMGN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HEMGN: view

No data available for UniProtKB/Swiss-Prot for HEMGN Gene

Function for HEMGN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HEMGN Gene

UniProtKB/Swiss-Prot Function:
Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB).
UniProtKB/Swiss-Prot Induction:
Down-regulated during megakaryocytic differentiation of K562 cells by 12-O-tetradecanoylphorbol-13-acetate (TPA) (at protein level). Up-regulated in normal PBMCs by mitogens.

Phenotypes From GWAS Catalog for HEMGN Gene

Gene Ontology (GO) - Molecular Function for HEMGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with HEMGN: view
genes like me logo Genes that share phenotypes with HEMGN: view

Animal Models for HEMGN Gene

MGI Knock Outs for HEMGN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEMGN Gene

Localization for HEMGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEMGN Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEMGN gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for HEMGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA --
genes like me logo Genes that share ontologies with HEMGN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEMGN Gene

Pathways & Interactions for HEMGN Gene

SuperPathways for HEMGN Gene

PathCards logo More details on SuperPathways for HEMGN
No Data Available

Gene Ontology (GO) - Biological Process for HEMGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0045667 regulation of osteoblast differentiation IBA --
genes like me logo Genes that share ontologies with HEMGN: view

No data available for Pathways by source and SIGNOR curated interactions for HEMGN Gene

Drugs & Compounds for HEMGN Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HEMGN Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HEMGN Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(73) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEMGN Gene

Hemogen:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEMGN Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b
SP1: - - - - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6: - - - - - -

Relevant External Links for HEMGN Gene

GeneLoc Exon Structure for
HEMGN
ECgene alternative splicing isoforms for
HEMGN

Expression for HEMGN Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEMGN Gene

mRNA expression in normal human tissues for HEMGN Gene
mRNA expression by BioGPS for HEMGN GenemRNA expression by GTEx for HEMGN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEMGN Gene

This gene is overexpressed in Testis (x32.3) and Whole Blood (x14.4).

Protein differential expression in normal tissues from HIPED for HEMGN Gene

This gene is overexpressed in Fetal Liver (46.7) and Stomach (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEMGN Gene



NURSA nuclear receptor signaling pathways regulating expression of HEMGN Gene:

HEMGN

SOURCE GeneReport for Unigene cluster for HEMGN Gene:

Hs.176626

mRNA Expression by UniProt/SwissProt for HEMGN Gene:

Q9BXL5-HEMGN_HUMAN
Tissue specificity: Expressed in hematopoietic precursor cells, thyroid and spermatids (at protein level). Expressed in bone marrow, testis, thymus. Expressed in prostate cancer and ovarian cancer. Also expressed in thymus and thyroid tumors, non-Hodgkin lymphoma, various leukemia cell lines, peripheral blood mononuclear cells (PBMCs) and bone marrow mononuclear cells (BMMCs) of patients with leukemia.

Evidence on tissue expression from TISSUES for HEMGN Gene

  • Bone marrow(4.5)
  • Nervous system(4.1)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with HEMGN: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEMGN Gene

Orthologs for HEMGN Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEMGN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HEMGN 33 34
  • 99.31 (n)
dog
(Canis familiaris)
 Mammalia HEMGN 33 34
  • 81.81 (n)
cow
(Bos Taurus)
 Mammalia HEMGN 33 34
  • 80.5 (n)
mouse
(Mus musculus)
 Mammalia Hemgn 33 16 34
  • 69.9 (n)
rat
(Rattus norvegicus)
 Mammalia Hemgn 33
  • 65.25 (n)
oppossum
(Monodelphis domestica)
 Mammalia HEMGN 34
  • 30 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HEMGN 34
  • 31 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HEMGN 34
  • 39 (a)
 OneToOne
Species where no ortholog for HEMGN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HEMGN Gene

ENSEMBL:
Gene Tree for HEMGN (if available)
TreeFam:
Gene Tree for HEMGN (if available)

Paralogs for HEMGN Gene

No data available for Paralogs for HEMGN Gene

Variants for HEMGN Gene

Sequence variations from dbSNP and Humsavar for HEMGN Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000092327 -- 97,944,167(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000272795 -- 97,941,226(-) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000736294 -- 97,936,001(-) T/A intron_variant
rs1000803091 -- 97,928,045(-) G/C/T intron_variant
rs1000877576 -- 97,944,528(-) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HEMGN Gene

Variant ID Type Subtype PubMed ID
nsv1048135 CNV loss 25217958
nsv472589 CNV novel sequence insertion 20440878

Variation tolerance for HEMGN Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEMGN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEMGN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEMGN Gene

Disorders for HEMGN Gene

MalaCards: The human disease database

(1) MalaCards diseases for HEMGN Gene - From: GeneCards

Disorder Aliases PubMed IDs
isolated cleft lip
- elite association - COSMIC cancer census association via MalaCards
Search HEMGN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HEMGN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HEMGN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEMGN Gene

Publications for HEMGN Gene

  1. Alternative promoters and polyadenylation regulate tissue-specific expression of Hemogen isoforms during hematopoiesis and spermatogenesis. (PMID: 14648837) Yang LV … Li L (Developmental dynamics : an official publication of the American Association of Anatomists 2003) 3 4 22 58
  2. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 44 58
  3. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. (PMID: 19779022) Moreno LM … Lidral AC (Human molecular genetics 2009) 3 44 58
  4. High expression of EDAG and its significance in AML. (PMID: 15920494) An LL … Song YH (Leukemia 2005) 3 4 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58

Products for HEMGN Gene

Sources for HEMGN Gene

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