TMEM242 transmembrane protein 242 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM242provided by HGNC
Official Full Name: transmembrane protein 242provided by HGNC
Primary source: HGNC:HGNC:17206
See related: Ensembl:ENSG00000215712 MIM:620721; AllianceGenome:HGNC:17206
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: BM033; C6orf35
Summary: Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 5.6), heart (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (157289025..157323519, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (158494801..158565506, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (157710057..157744551, complement)

Chromosome 6 - NC_000006.12 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?

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.
Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

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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

RH47385 (e-PCR)
- UniSTS:56087

D6S1229E (e-PCR)
- UniSTS:54082

RH119737 (e-PCR)
- UniSTS:133213

RH65412 (e-PCR)
- UniSTS:36230

D6S1934 (e-PCR)
- UniSTS:6313

D12S1230E (e-PCR)
- UniSTS:151477

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 proton-transporting ATP synthase complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: transmembrane protein 242

Names: UPF0463 transmembrane protein C6orf35

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.