Gene Gene information from NCBI Gene database.
Entrez ID 55363
Gene name Hemogen
Gene symbol HEMGN
Synonyms (NCBI Gene)
CT155EDAGEDAG-1NDR
Chromosome 9
Chromosome location 9q22.33
miRNA miRNA information provided by mirtarbase database.
328
miRTarBase ID miRNA Experiments Reference
MIRT019451 hsa-miR-148b-3p Microarray 17612493
MIRT612033 hsa-miR-8485 HITS-CLIP 19536157
MIRT612028 hsa-miR-1287-3p HITS-CLIP 19536157
MIRT612033 hsa-miR-8485 HITS-CLIP 23313552
MIRT612032 hsa-miR-329-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
GATA1 Repression 18599389
GATA1 Unknown 20564185
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21988832, 22712502
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0030154 Process Cell differentiation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610715 17509 ENSG00000136929
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXL5
Protein name Hemogen (Erythroid differentiation-associated gene protein) (EDAG-1) (Hemopoietic gene protein) (Negative differentiation regulator protein)
Protein 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-kapp
Family and domains
Tissue specificity 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
Sequence
MDLGKDQSHLKHHQTPDPHQEENHSPEVIGTWSLRNRELLRKRKAEVHEKETSQWLFGEQ
KKRKQQRTGKGNRRGRKRQQNTELKVEPQPQIEKEIVEKALAPIEKKTEPPGSITKVFPS
VASPQKVVPEEHFSEICQESNIYQENFSEYQEIAVQNHSSETCQHVSEPEDLSPKMYQEI
SVLQDNSSKICQDMKEPEDNSPNTCQVISVIQDHPFKMYQDMAKREDLAPKMCQEAAVPK
ILPCPTSEDTADLAGCSLQAYPKPDVPKGYILDTDQNPAEPEEYNETDQGIAETEGLFPK
IQEIAEPKDLSTKTHQESAEPKYLPHKTCNEIIVPKAPSHKTIQETPHSEDYSIEINQET
PGSEKYSPETYQEIPGLEEYSPEIYQETSQLEEYSPEIYQETPGPEDLSTETYKNKDVPK
ECFPEPHQETGGPQGQDPKAHQEDAKDAYTFPQEMKEKPKEEPGIPAILNESHPENDVYS
YVLF
Sequence length 484
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 14730214
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia LHGDN 17671716
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16437149
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 28337877
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 28337877
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 27033231, 30782717, 31275351
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic Retinopathy BEFREE 25899017, 27033231, 31275351
★☆☆☆☆
Found in Text Mining only
Febrile Convulsions Febrile seizures BEFREE 19125847
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic Neoplasms BEFREE 11404085
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 11404085, 20656931, 26934676
★☆☆☆☆
Found in Text Mining only