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Aliases for ATP5J2-PTCD1 Gene

Aliases for ATP5J2-PTCD1 Gene

  • ATP5J2-PTCD1 Readthrough 2 3 5

External Ids for ATP5J2-PTCD1 Gene

Previous GeneCards Identifiers for ATP5J2-PTCD1 Gene

  • GC07U903082
  • GC07M099018

Summaries for ATP5J2-PTCD1 Gene

Entrez Gene Summary for ATP5J2-PTCD1 Gene

  • This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]

GeneCards Summary for ATP5J2-PTCD1 Gene

ATP5J2-PTCD1 (ATP5J2-PTCD1 Readthrough) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and tRNA binding. An important paralog of this gene is PTCD1.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5J2-PTCD1 Gene

Genomics for ATP5J2-PTCD1 Gene

Regulatory Elements for ATP5J2-PTCD1 Gene

Enhancers for ATP5J2-PTCD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G099557 1.7 Ensembl ENCODE dbSUPER 11.2 -94.8 -94786 7.9 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D SSRP1 ATP5J2 BUD31 TMEM225B ZSCAN25 ZNF789 ATP5J2-PTCD1 PTCD1 MBLAC1 TRRAP ENSG00000242798
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP5J2-PTCD1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP5J2-PTCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215668 201 1201 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D

Genomic Location for ATP5J2-PTCD1 Gene

99,416,739 bp from pter
99,466,201 bp from pter
49,463 bases
Minus strand

Genomic View for ATP5J2-PTCD1 Gene

Genes around ATP5J2-PTCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5J2-PTCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5J2-PTCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5J2-PTCD1 Gene

Proteins for ATP5J2-PTCD1 Gene

  • Protein details for ATP5J2-PTCD1 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Recommended name:
    ATP5J2-PTCD1 readthrough
    Protein Accession:

    Protein attributes for ATP5J2-PTCD1 Gene

    54 amino acids
    Molecular mass:
    5915 Da
    Quaternary structure:
    No Data Available
  • Protein details for ATP5J2-PTCD1 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Recommended name:
    ATP5J2-PTCD1 readthrough
    Protein Accession:

    Protein attributes for ATP5J2-PTCD1 Gene

    749 amino acids
    Molecular mass:
    84110 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATP5J2-PTCD1 Gene

Post-translational modifications for ATP5J2-PTCD1 Gene

No Post-translational modifications

Other Protein References for ATP5J2-PTCD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5J2-PTCD1 Gene

Domains & Families for ATP5J2-PTCD1 Gene

Protein Domains for ATP5J2-PTCD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATP5J2-PTCD1: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ATP5J2-PTCD1 Gene

Function for ATP5J2-PTCD1 Gene

Phenotypes for ATP5J2-PTCD1 Gene

genes like me logo Genes that share phenotypes with ATP5J2-PTCD1: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5J2-PTCD1 Gene

Localization for ATP5J2-PTCD1 Gene

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 ATP5J2-PTCD1 gene
Compartment Confidence
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ATP5J2-PTCD1 Gene

Pathways & Interactions for ATP5J2-PTCD1 Gene

SuperPathways for ATP5J2-PTCD1 Gene

No Data Available

Interacting Proteins for ATP5J2-PTCD1 Gene

Gene Ontology (GO) - Biological Process for ATP5J2-PTCD1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ATP5J2-PTCD1 Gene

Drugs & Compounds for ATP5J2-PTCD1 Gene

No Compound Related Data Available

Transcripts for ATP5J2-PTCD1 Gene

mRNA/cDNA for ATP5J2-PTCD1 Gene

(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5J2-PTCD1 Gene

No ASD Table

Relevant External Links for ATP5J2-PTCD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP5J2-PTCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP5J2-PTCD1 Gene

Protein differential expression in normal tissues from HIPED for ATP5J2-PTCD1 Gene

This gene is overexpressed in Adrenal (25.7), Lung (16.3), Retina (7.7), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from PaxDb, MaxQB, and MOPED for ATP5J2-PTCD1 Gene

Protein tissue co-expression partners for ATP5J2-PTCD1 Gene

genes like me logo Genes that share expression patterns with ATP5J2-PTCD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5J2-PTCD1 Gene

Orthologs for ATP5J2-PTCD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP5J2-PTCD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP5J2 34
  • 99.24 (n)
-- 35
  • 99 (a)
(Canis familiaris)
Mammalia PTCD1 34
  • 81.16 (n)
-- 35
  • 76 (a)
(Mus musculus)
Mammalia Ptcd1 34 16 35
  • 79.52 (n)
(Rattus norvegicus)
Mammalia Ptcd1 34
  • 78.47 (n)
(Bos Taurus)
Mammalia -- 35
  • 78 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 46 (a)
(Gallus gallus)
Aves PTCD1 34
  • 63.01 (n)
-- 35
  • 55 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptcd1 34
  • 57.17 (n)
(Danio rerio)
Actinopterygii ptcd1 34 35
  • 55.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006051 34
  • 50.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4611 34 35
  • 48.84 (n)
Species where no ortholog for ATP5J2-PTCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ATP5J2-PTCD1 Gene

Gene Tree for ATP5J2-PTCD1 (if available)
Gene Tree for ATP5J2-PTCD1 (if available)

Paralogs for ATP5J2-PTCD1 Gene

Paralogs for ATP5J2-PTCD1 Gene

(2) SIMAP similar genes for ATP5J2-PTCD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP5J2-PTCD1: view

Variants for ATP5J2-PTCD1 Gene

Sequence variations from dbSNP and Humsavar for ATP5J2-PTCD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs201365604 Uncertain significance 99,434,948(+) TCTCC(A/G)GGAGG reference, missense
rs886043246 Uncertain significance 99,420,092(+) CCACT(A/G)CTTGT downstream-variant-500B, reference, stop-gained
rs1000026358 -- 99,416,421(+) TTGTT(G/T)TTTGT intron-variant, downstream-variant-500B
rs1000093689 -- 99,467,355(+) GGCCT(C/T)CGATT upstream-variant-2KB
rs1000230096 -- 99,461,027(+) TTCCA(A/G)TGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5J2-PTCD1 Gene

Variant ID Type Subtype PubMed ID
esv2734882 CNV deletion 23290073
esv3542149 CNV deletion 23714750
nsv5864 CNV insertion 18451855
nsv831069 CNV loss 17160897
nsv951382 CNV deletion 24416366
nsv951383 CNV deletion 24416366

Variation tolerance for ATP5J2-PTCD1 Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5J2-PTCD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5J2-PTCD1 Gene

Disorders for ATP5J2-PTCD1 Gene

Relevant External Links for ATP5J2-PTCD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ATP5J2-PTCD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5J2-PTCD1 Gene

Publications for ATP5J2-PTCD1 Gene

  1. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3 64
  2. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3 64
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 64
  5. Toward a complete human genome sequence. (PMID: 9847074) Sulston J.E. … Waterston R. (Genome Res. 1998) 3 64

Products for ATP5J2-PTCD1 Gene

Sources for ATP5J2-PTCD1 Gene

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