HEMGN hemogen [Homo sapiens (human)] - Gene

Summary

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, Apr 2022]
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

Location:: 9q22.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (97926791..97944852, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (110098729..110116790, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (100689073..100707134, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-33415 (e-PCR)
- UniSTS:13101

SHGC-34470 (e-PCR)
- UniSTS:62007

RH16211 (e-PCR)
- UniSTS:38625

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)

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
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