HYMAI

Summary

HYMAI (hydatidiform mole associated and imprinted, HGNC:5326) is a long non-coding RNA gene on chromosome 6q24.2.

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.

Source: NCBI Gene 57061 — RefSeq curated summary.

At a glance

• Gene type: non-coding (lncRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5326
Approved symbol	HYMAI
Name	hydatidiform mole associated and imprinted
Location	6q24.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	NCRNA00020
Ensembl gene	ENSG00000283122
Ensembl biotype	lncRNA
OMIM	606546
Entrez	57061
RNAcentral	URS00021ED9D4 — lncRNA, 3344 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 lncRNA

ENST00000635591

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000635591 — 1 exons

Exon	Start	End
ENSE00003784618	144004916	144008262

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 88.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5727 / max 695.1851, expressed in 1536 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76048	14.5727	1536

Top tissues by expression

120 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.77	gold quality
adrenal tissue	UBERON:0018303	74.81	gold quality
bone marrow cell	CL:0002092	67.17	silver quality
colonic epithelium	UBERON:0000397	66.18	silver quality
placenta	UBERON:0001987	64.38	gold quality
skeletal muscle tissue	UBERON:0001134	62.21	silver quality
tonsil	UBERON:0002372	60.44	silver quality
ganglionic eminence	UBERON:0004023	60.28	gold quality
ventricular zone	UBERON:0003053	60.12	gold quality
bone marrow	UBERON:0002371	59.35	silver quality
cortical plate	UBERON:0005343	58.44	silver quality
pituitary gland	UBERON:0000007	58.19	gold quality
adenohypophysis	UBERON:0002196	57.79	gold quality
calcaneal tendon	UBERON:0003701	57.41	gold quality
left ovary	UBERON:0002119	56.74	gold quality
ascending aorta	UBERON:0001496	56.53	gold quality
ovary	UBERON:0000992	56.32	gold quality
thoracic aorta	UBERON:0001515	55.74	gold quality
gall bladder	UBERON:0002110	55.74	gold quality
right ovary	UBERON:0002118	55.50	gold quality
liver	UBERON:0002107	53.37	silver quality
urinary bladder	UBERON:0001255	52.71	gold quality
popliteal artery	UBERON:0002250	52.70	gold quality
adrenal gland	UBERON:0002369	52.65	gold quality
tibial artery	UBERON:0007610	52.64	gold quality
descending thoracic aorta	UBERON:0002345	52.26	gold quality
monocyte	CL:0000576	51.06	silver quality
blood	UBERON:0000178	51.00	silver quality
left coronary artery	UBERON:0001626	50.97	gold quality
hindlimb stylopod muscle	UBERON:0004252	50.65	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.71

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• HYMAI gene encodes a non-coding transcript that is expressed only from the paternal allele. (PMID:10936046)
• imprinted in transient neonatal diabetes (PMID:11935319)
• HYMAI expression was studied in transgenic mice. (PMID:15286800)
• 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 (PMID:16928428)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.