TMEM65 transmembrane protein 65 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM65provided by HGNC
Official Full Name: transmembrane protein 65provided by HGNC
Primary source: HGNC:HGNC:25203
See related: Ensembl:ENSG00000164983 MIM:616609; AllianceGenome:HGNC:25203
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
Summary: Predicted to be involved in cardiac conduction; cardiac ventricle development; and regulation of cardiac conduction. Located in intercalated disc; mitochondrial inner membrane; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum (RPKM 11.1), brain (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (124306189..124372701, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (125438941..125505444, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (125318430..125384942, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target.
Title: TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target.
A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts.
Title: A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

SHGC-145074 (e-PCR)
- UniSTS:174391

SHGC-111940 (e-PCR)
- UniSTS:168828

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 cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac ventricle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 65

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.