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MPV17L2 MPV17 mitochondrial inner membrane protein like 2 [ Homo sapiens (human) ]

Gene ID: 84769, updated on 19-Sep-2024

Summary

Official Symbol
MPV17L2provided by HGNC
Official Full Name
MPV17 mitochondrial inner membrane protein like 2provided by HGNC
Primary source
HGNC:HGNC:28177
See related
Ensembl:ENSG00000254858 MIM:616133; AllianceGenome:HGNC:28177
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
FKSG24
Summary
Involved in mitochondrial ribosome assembly and positive regulation of mitochondrial translation. Located in mitochondrial inner membrane. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 6.2), thyroid (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

See MPV17L2 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18193218..18196948)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18327341..18331073)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18304028..18307758)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18263346-18264238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18267436-18268294 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18270202-18270406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18271190-18271739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10375 Neighboring gene phosphoinositide-3-kinase regulatory subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18285185-18285850 Neighboring gene IFI30 lysosomal thiol reductase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18314094-18314876 Neighboring gene Sharpr-MPRA regulatory region 13953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14306 Neighboring gene uncharacterized LOC102725254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10379 Neighboring gene RAB3A, member RAS oncogene family Neighboring gene phosphodiesterase 4C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:18330099-18331298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18342361-18343052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18359151-18360054 Neighboring gene colon, intestine and stomach enriched 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
mpv17-like protein 2
Names
MPV17 mitochondrial membrane protein-like 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)

  1. NM_032683.3NP_116072.2  mpv17-like protein 2 precursor

    See identical proteins and their annotated locations for NP_116072.2

    Status: VALIDATED

    Source sequence(s)
    AC068499, BC005064, BC093008, BG740168
    Consensus CDS
    CCDS42522.1
    UniProtKB/Swiss-Prot
    Q567V2, Q96P34, Q96QA0, Q9BSG4
    Related
    ENSP00000469836.2, ENST00000599612.3
    Conserved Domains (1) summary
    pfam04117
    Location:122183
    Mpv17_PMP22; Mpv17 / PMP22 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    18193218..18196948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18327341..18331073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)