LYRM2 LYR motif containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LYRM2provided by HGNC
Official Full Name: LYR motif containing 2provided by HGNC
Primary source: HGNC:HGNC:25229
See related: Ensembl:ENSG00000083099 AllianceGenome:HGNC:25229
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DJ122O8.2
Summary: Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 12.5), thyroid (RPKM 12.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89632224..89638747, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90841594..90848122, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (90341943..90348466, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Authors identified a new Akt-S58phos-LYRM2-Complex I axis, which is responsible for the LYRM2-induced tumor growth and the activation of OXPHOS in colorectal cancer.
Title: LYRM2 directly regulates complex I activity to support tumor growth in colorectal cancer by oxidative phosphorylation.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH46755 (e-PCR)
- UniSTS:82192

RH67824 (e-PCR)
- UniSTS:89881

SGC30401 (e-PCR)
- UniSTS:83505

D8S2279 (e-PCR)
- UniSTS:473907

STS-AA025624 (e-PCR)
- UniSTS:74354

G31052 (e-PCR)
- UniSTS:11164

G43165 (e-PCR)
- UniSTS:94889

SHGC-36707 (e-PCR)
- UniSTS:4527

D6S1132E (e-PCR)
- UniSTS:87770

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: LYR motif-containing protein 2

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.

mRNA and Protein(s)

NM_020466.5 → NP_065199.1 LYR motif-containing protein 2

See identical proteins and their annotated locations for NP_065199.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AL096678, BC104668, BI492982, BP280644

Consensus CDS

CCDS5023.1

UniProtKB/Swiss-Prot

B2R4U2, E1P517, Q9NU23

Related

ENSP00000430025.1, ENST00000523377.2

Conserved Domains (1) summary

pfam05347
Location:20 → 78

Complex1_LYR; Complex 1 protein (LYR family)

RNA

NR_028493.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant lacks the translational start codon, as found in variant 1, and it does not appear to be protein-coding.

Source sequence(s)

AK094994, AL096678, BI492982, DA160441
NR_028494.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. This variant lacks the translational start codon, as found in variant 1, and it does not appear to be protein-coding.

Source sequence(s)

AK311180, AL096678, BI492982, DA160441
NR_028495.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 1. This variant lacks the translational start codon, as found in variant 1, and it does not appear to be protein-coding.

Source sequence(s)

AL096678, AV710669, BI492982