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TMEM70 transmembrane protein 70 [ Homo sapiens (human) ]

Gene ID: 54968, updated on 6-Jul-2025
Official Symbol
TMEM70provided by HGNC
Official Full Name
transmembrane protein 70provided by HGNC
Primary source
HGNC:HGNC:26050
See related
Ensembl:ENSG00000175606 MIM:612418; AllianceGenome:HGNC:26050
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MC5DN2
Summary
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Expression
Ubiquitous expression in adrenal (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues See more
Orthologs
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See TMEM70 in Genome Data Viewer
Location:
8q21.11
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73976195..73982783)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (74405457..74412045)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (74888430..74895018)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glycogenin 1 pseudogene 1 Neighboring gene elongin C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:74882747-74883636 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr8:74883637-74884525 and GRCh37_chr8:74884526-74885414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19296 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:74888348-74888563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19297 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:74897195-74897777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27539 Neighboring gene ribosomal protein S20 pseudogene 21 Neighboring gene DSTN pseudogene 3 Neighboring gene lymphocyte antigen 96 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27540 Neighboring gene RNA, U6 small nuclear 1300, pseudogene

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ20533

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mitochondrial proton-transporting ATP synthase complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial crista IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
transmembrane protein 70, mitochondrial
Names
mitochondrial complex V deficiency, nuclear type 1

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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.

Genomic

  1. NG_016618.1 RefSeqGene

    Range
    5054..11642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040613.3NP_001035703.1  transmembrane protein 70, mitochondrial isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC002748, BF439499, BM984431, DB483583
    Consensus CDS
    CCDS47876.1
    UniProtKB/TrEMBL
    D4PHA6
    Related
    ENSP00000429467.1, ENST00000517439.1
  2. NM_017866.6NP_060336.3  transmembrane protein 70, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_060336.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC002748, BM984431, DB483583
    Consensus CDS
    CCDS6215.1
    UniProtKB/Swiss-Prot
    E9PDY9, Q9BUB7, Q9NWY5
    Related
    ENSP00000312599.5, ENST00000312184.6
    Conserved Domains (1) summary
    pfam06979
    Location:108232
    TMEM70; Assembly, mitochondrial proton-transport ATP synth complex

RNA

  1. NR_033334.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC002748, BM984431, BU542365, DB483583

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    73976195..73982783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    74405457..74412045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)