HYMAI hydatidiform mole associated and imprinted [Homo sapiens (human)] - Gene

Summary

Official Symbol: HYMAIprovided by HGNC
Official Full Name: hydatidiform mole associated and imprintedprovided by HGNC
Primary source: HGNC:HGNC:5326
See related: Ensembl:ENSG00000283122 MIM:606546; AllianceGenome:HGNC:5326
Gene type: ncRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCRNA00020
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 6q24.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (144004916..144008259, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (145197629..145200972, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (144326053..144329396, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HYMAI gene encodes a non-coding transcript that is expressed only from the paternal allele.
Title: A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.
Observational study of gene-disease association. (HuGE Navigator)
Title: Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach.
a transgene carrying the human HYMAI/PLAGL1 differentially methylated region was methylated in the correct parent-origin-specific manner in mice and this was sufficient to confer imprinted expression from the transgene
Title: The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.
HYMAI expression was studied in transgenic mice.
Title: Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM.
imprinted in transient neonatal diabetes
Title: Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus, transient neonatal, 1 MedGen: C1832386 OMIM: 601410 GeneReviews: Diabetes Mellitus, 6q24-Related Transient Neonatal	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page

Variation

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General gene information

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Other Names

hydatidiform mole associated and imprinted (non-protein coding)

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.