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Aliases for TMEM65 Gene

Aliases for TMEM65 Gene

  • Transmembrane Protein 65 2 3 3 5

External Ids for TMEM65 Gene

Previous GeneCards Identifiers for TMEM65 Gene

  • GC08M125394
  • GC08M120650

Summaries for TMEM65 Gene

GeneCards Summary for TMEM65 Gene

TMEM65 (Transmembrane Protein 65) is a Protein Coding gene. Diseases associated with TMEM65 include Mitochondrial Myopathy.

UniProtKB/Swiss-Prot for TMEM65 Gene

  • May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037).

Additional gene information for TMEM65 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM65 Gene

Genomics for TMEM65 Gene

GeneHancer (GH) Regulatory Elements for TMEM65 Gene

Promoters and enhancers for TMEM65 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J124370 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.6 616 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 FOS TMEM65 ENSG00000253227 GC08M124331
GH08J124179 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 61.4 +190.8 190815 4 SIX4 JUN MAX ZMYM3 FEZF1 RFX5 CTBP1 GATA3 FOSL2 RCOR1 TMEM65 TATDN1 WDYHV1 FER1L6-AS2 LOC101927588
GH08J124194 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 31 +174.4 174350 8.7 HDGF PKNOX1 ARNT NEUROD1 SIN3A FEZF1 YBX1 ZNF2 ZBTB7B IRF4 TRMT12 FAM91A1 TMEM65 WASHC5 WASHC5-AS1 RNF139-AS1 ZNF572 RNF139 NSMCE2 FER1L6-AS2
GH08J124140 Enhancer 0.8 Ensembl ENCODE 40.2 +231.4 231407 1.3 SMAD5 GTF2E2 BATF ATF2 IRF4 ZNF121 POLR2A NFATC1 FOS RUNX3 LOC392268 TMEM65 FER1L6-AS2 ENSG00000254249 FER1L6-AS1 GC08M124136 GC08M124076
GH08J124147 Enhancer 0.5 ENCODE 42.9 +224.9 224934 0.1 FOSL1 ZNF335 JUN IKZF1 FOSL2 FOS EGR2 TMEM65 FER1L6-AS2 FER1L6-AS1 ENSG00000254249 ARF1P3 LOC392268 GC08M124136
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM65 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM65 gene promoter:
  • ISGF-3
  • POU3F1
  • Arnt
  • AhR
  • Ik-1
  • HNF-3beta
  • ER-alpha
  • Pbx1a
  • FOXF2
  • NF-AT

Genomic Locations for TMEM65 Gene

Genomic Locations for TMEM65 Gene
66,511 bases
Minus strand
61,782 bases
Minus strand

Genomic View for TMEM65 Gene

Genes around TMEM65 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM65 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM65 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM65 Gene

Proteins for TMEM65 Gene

  • Protein details for TMEM65 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane protein 65
    Protein Accession:
    Secondary Accessions:
    • Q8N5G8
    • Q8WVK5

    Protein attributes for TMEM65 Gene

    240 amino acids
    Molecular mass:
    25498 Da
    Quaternary structure:
    • Monomer (By similarity). Homodimer (PubMed:26403541). Interacts with GJA1 (By similarity). Interacts weakly with DSP (By similarity).
    • Sequence=AAH32396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for TMEM65 Gene

Post-translational modifications for TMEM65 Gene

No Post-translational modifications

Other Protein References for TMEM65 Gene

No data available for DME Specific Peptides for TMEM65 Gene

Domains & Families for TMEM65 Gene

Gene Families for TMEM65 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM65 Gene


Suggested Antigen Peptide Sequences for TMEM65 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM65: view

No data available for UniProtKB/Swiss-Prot for TMEM65 Gene

Function for TMEM65 Gene

Molecular function for TMEM65 Gene

UniProtKB/Swiss-Prot Function:
May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037).

Phenotypes From GWAS Catalog for TMEM65 Gene

genes like me logo Genes that share phenotypes with TMEM65: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM65 Gene

Localization for TMEM65 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM65 Gene

Cell membrane; Multi-pass membrane protein. Mitochondrion inner membrane; Multi-pass membrane protein. Note=Localizes at the intercalated disk in the ventricular tissue (PubMed:26403541). {ECO:0000269 PubMed:26403541}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM65 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMEM65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IDA,IEA 24765583
GO:0005886 plasma membrane IDA,IEA 26403541
GO:0014704 intercalated disc IDA,IEA 26403541
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM65: view

Pathways & Interactions for TMEM65 Gene

SuperPathways for TMEM65 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM65 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003231 cardiac ventricle development ISS --
GO:1903779 regulation of cardiac conduction ISS,IEA --
genes like me logo Genes that share ontologies with TMEM65: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM65 Gene

Drugs & Compounds for TMEM65 Gene

No Compound Related Data Available

Transcripts for TMEM65 Gene

mRNA/cDNA for TMEM65 Gene

Unigene Clusters for TMEM65 Gene

Transmembrane protein 65:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM65 Gene

No ASD Table

Relevant External Links for TMEM65 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM65 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM65 Gene

Protein differential expression in normal tissues from HIPED for TMEM65 Gene

This gene is overexpressed in Nasal epithelium (23.7) and Brain (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM65 Gene

Protein tissue co-expression partners for TMEM65 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM65 Gene:


SOURCE GeneReport for Unigene cluster for TMEM65 Gene:


mRNA Expression by UniProt/SwissProt for TMEM65 Gene:

Tissue specificity: Predominantly expressed the ventricular tissue (at protein level).

Evidence on tissue expression from TISSUES for TMEM65 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TMEM65: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM65 Gene

Orthologs for TMEM65 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM65 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMEM65 34 33
  • 99.63 (n)
(Canis familiaris)
Mammalia TMEM65 34 33
  • 96.05 (n)
(Bos Taurus)
Mammalia TMEM65 34 33
  • 94.63 (n)
(Rattus norvegicus)
Mammalia Tmem65 33
  • 89.74 (n)
(Mus musculus)
Mammalia Tmem65 16 34 33
  • 89.46 (n)
(Ornithorhynchus anatinus)
Mammalia TMEM65 34
  • 83 (a)
(Monodelphis domestica)
Mammalia TMEM65 34
  • 77 (a)
(Gallus gallus)
Aves TMEM65 34 33
  • 84.66 (n)
(Anolis carolinensis)
Reptilia TMEM65 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem65 33
  • 74.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13983 33
(Danio rerio)
Actinopterygii tmem65 34 33
  • 64.29 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6265 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009021 33
  • 48.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17715 34
  • 27 (a)
(Caenorhabditis elegans)
Secernentea tag-321 34
  • 38 (a)
Species where no ortholog for TMEM65 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM65 Gene

Gene Tree for TMEM65 (if available)
Gene Tree for TMEM65 (if available)
Evolutionary constrained regions (ECRs) for TMEM65: view image

Paralogs for TMEM65 Gene

No data available for Paralogs for TMEM65 Gene

Variants for TMEM65 Gene

Sequence variations from dbSNP and Humsavar for TMEM65 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000078026 -- 124,345,549(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000148179 -- 124,363,191(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000158780 -- 124,356,993(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000188040 -- 124,336,071(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000269094 -- 124,310,637(-) G/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM65 Gene

Variant ID Type Subtype PubMed ID
nsv527751 CNV loss 19592680
nsv521356 CNV loss 19592680
nsv516190 CNV loss 19592680
nsv1144234 CNV deletion 24896259
nsv1112965 CNV deletion 24896259
nsv1075168 CNV deletion 25765185
nsv1034768 CNV gain 25217958
esv3618688 CNV loss 21293372
esv2762769 CNV gain 21179565
esv2669472 CNV deletion 23128226

Variation tolerance for TMEM65 Gene

Residual Variation Intolerance Score: 46.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM65 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM65 Gene

Disorders for TMEM65 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM65 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mitochondrial myopathy
  • mitochondrial cytopathy
- elite association - COSMIC cancer census association via MalaCards


  • Note=Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037). {ECO:0000269 PubMed:28295037}.

Additional Disease Information for TMEM65

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMEM65: view

No data available for Genatlas for TMEM65 Gene

Publications for TMEM65 Gene

  1. TMEM65 is a mitochondrial inner-membrane protein. (PMID: 24765583) Nishimura N … Yano M (PeerJ 2014) 2 3 4 58
  2. A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. (PMID: 28295037) Nazli A … Tarnopolsky MA (European journal of human genetics : EJHG 2017) 3 4 58
  3. Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. (PMID: 26403541) Sharma P … Gramolini AO (Nature communications 2015) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TMEM65 Gene

Sources for TMEM65 Gene

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