| Name | hydatidiform mole associated and imprinted (non-protein coding) |
| Description | This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n HYMAI is an imprinted, paternally expressed long non‐coding RNA located within the 6q24 domain that has been strongly implicated in the pathogenesis of transient neonatal diabetes mellitus (TNDM). Although the precise molecular function of HYMAI remains to be fully elucidated, multiple independent studies have demonstrated that its overexpression, typically resulting from paternal uniparental disomy, duplications, or hypomethylation of the maternal allele at its imprinting control region, is closely associated with the dysregulation of pancreatic endocrine development and beta‐cell function (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " In the context of TNDM, HYMAI is co‐located with protein‐coding transcripts (such as PLAGL1/ZAC), and the coordinated overexpression of these imprinted genes appears to impair insulin production and secretion, possibly through negative regulation of beta‐cell secretory pathways. Additionally, evidence from studies using reporter assays and mouse models suggests that the differentially methylated region overlapping HYMAI is essential for establishing and/or maintaining a repressive chromatin environment, thereby preventing aberrant transcription from the maternal allele (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Collectively, these findings indicate that while HYMAI does not encode a protein, its regulated expression is a critical component of the epigenetic network governing pancreatic cell development and function, and its deregulation underlies the clinical manifestations of TNDM.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dan Ma, Julian P H Shield, Wendy Dean, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI19876"}], "href": "https://doi.org/10.1172/JCI19876"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15286800"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15286800"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "D J G Mackay, A-M Coupe, J P H Shield, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-001-0671-5"}], "href": "https://doi.org/10.1007/s00439-001-0671-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11935319"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11935319"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "T Arima, R A Drewell, M Oshimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/geno.2000.6266"}], "href": "https://doi.org/10.1006/geno.2000.6266"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10936046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10936046"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Takahiro Arima, Katsuhisa Yamasaki, Rosalind M John, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygeno.2006.07.005"}], "href": "https://doi.org/10.1016/j.ygeno.2006.07.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16928428"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16928428"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "T Arima, R A Drewell, K L Arney, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/10.14.1475"}], "href": "https://doi.org/10.1093/hmg/10.14.1475"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11448939"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11448939"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Anke Hoffmann, Dietmar Spengler "}, {"type": "b", "children": [{"type": "t", "text": "Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4331/wjbc.v6.i3.95"}], "href": "https://doi.org/10.4331/wjbc.v6.i3.95"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26322169"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26322169"}]}]}]}
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| Synonyms | NCRNA00020 |
| NCBI Gene ID | 57061 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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HYMAI has 1,368 functional associations with biological entities spanning 6 categories (molecular profile, chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 28 datasets.
Click the + buttons to view associations for HYMAI from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of HYMAI gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of HYMAI gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of HYMAI gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of HYMAI gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of HYMAI gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of HYMAI gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of HYMAI gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| CTD Gene-Disease Associations | diseases associated with HYMAI gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at HYMAI gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of HYMAI gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of HYMAI gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of HYMAI gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with HYMAI gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing HYMAI from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of HYMAI gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of HYMAI gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of HYMAI gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of HYMAI gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of HYMAI gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of HYMAI gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with HYMAI gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of HYMAI gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of HYMAI gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of HYMAI gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of HYMAI gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of HYMAI gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at HYMAI gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of HYMAI gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
