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

Gene ID: 84769, updated on 5-Aug-2018

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; Vega:OTTHUMG00000165628
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
Expression
Ubiquitous expression in adrenal (RPKM 6.2), thyroid (RPKM 5.7) and 25 other tissues See more
Orthologs

Genomic context

See MPV17L2 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (18193230..18196742)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18303986..18307552)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phosphoinositide-3-kinase regulatory subunit 2 Neighboring gene IFI30, lysosomal thiol reductase Neighboring gene RAB3A, member RAS oncogene family Neighboring gene uncharacterized LOC102725254

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12972, MGC110861

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mitochondrial ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial ribosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032683.2NP_116072.2  mpv17-like protein 2 precursor

    Status: VALIDATED

    Source sequence(s)
    BC005064, BC093008, BG740168
    Consensus CDS
    CCDS42522.1
    UniProtKB/Swiss-Prot
    Q567V2
    UniProtKB/TrEMBL
    A0A024R7K6
    Related
    ENSP00000469836.2, OTTHUMP00000271516, ENST00000599612.2, OTTHUMT00000466294
    Conserved Domains (1) summary
    pfam04117
    Location:122183
    Mpv17_PMP22; Mpv17 / PMP22 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    18193230..18196742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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