MTRNR2L12 MT-RNR2 like 12 (pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTRNR2L12provided by HGNC
Official Full Name: MT-RNR2 like 12 (pseudogene)provided by HGNC
Primary source: HGNC:HGNC:37169
See related: AllianceGenome:HGNC:37169
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HN12
Summary: Predicted to enable receptor antagonist activity. Predicted to be involved in negative regulation of execution phase of apoptosis. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [14 Oct 2021]
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Genomic context

Location:: 3q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (96617186..96618223, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (99320907..99321944, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (96336030..96337067, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HN12 is highly expressed in apoptosis-induced cells in Hirschsprung's disease patients.
Title: Apoptotic neuron-secreted HN12 inhibits cell apoptosis in Hirschsprung's disease.
The finding of this study suggest the potential value of this gene as a blood marker of early dementia in individuals with Down syndrome.
Title: MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

PMC316374P5 (e-PCR)
- UniSTS:272966

D3S2893E (e-PCR)
- UniSTS:150884

Other Names

HN12 lncRNA
MT-RNR2 pseudogene 12
humanin-like 12

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables receptor antagonist activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of execution phase of apoptosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

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.