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Aliases for DMAC2 Gene

Aliases for DMAC2 Gene

  • Distal Membrane Arm Assembly Complex 2 2 3 5
  • ATP Synthase Subunit S-Like Protein 3 4
  • ATP5S Like 2 3
  • ATP5SL 3 4
  • Distal Membrane-Arm Assembly Complex Protein 2 3

External Ids for DMAC2 Gene

Previous HGNC Symbols for DMAC2 Gene

  • ATP5SL

Summaries for DMAC2 Gene

GeneCards Summary for DMAC2 Gene

DMAC2 (Distal Membrane Arm Assembly Complex 2) is a Protein Coding gene. An important paralog of this gene is ATP5S.

UniProtKB/Swiss-Prot for DMAC2 Gene

  • Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

Gene Wiki entry for DMAC2 Gene

Additional gene information for DMAC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMAC2 Gene

Genomics for DMAC2 Gene

Regulatory Elements for DMAC2 Gene

Enhancers for DMAC2 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
GH19H041406 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.2 +39.1 39088 4 FOXA2 FOS ZNF362 CEBPB ZEB2 CEBPA MYC PRDM1 DRAP1 CTCF TMEM91 DMAC2 EXOSC5 TGFB1 B9D2 ERICH4 CCDC97 C19orf54 HNRNPUL1 ARHGEF1
GH19H041424 1.2 ENCODE dbSUPER 21.7 +20.8 20816 4 HDGF ARNT ZFP64 ARID4B DMAP1 ZNF766 GLIS2 GATA2 ELK1 ZNF416 TMEM91 EXOSC5 DMAC2 ZNF574 SPTBN4 BCKDHA TGFB1 MEGF8 GRIK5 CCDC97
GH19H041529 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -83.6 -83619 2 PKNOX1 ATF1 GLIS2 ATF7 RUNX3 SP3 JUNB ZNF518A CBX8 GLIS1 PCAT19 ZNF574 DMAC2 ERICH4 CIC LINC01480 NUMBL TGFB1 ARHGEF1 CCDC97
GH19H041430 1.7 VISTA ENCODE dbSUPER 10.8 +16.0 16026 2 HDGF ATF1 ARNT ZSCAN4 ZNF133 GLI4 RAD21 YY1 TCF12 GATA2 SNRPA ZNF526 ENSG00000269843 HNRNPUL1 EXOSC5 CCDC97 ITPKC B9D2 TGFB1 TMEM91
GH19H041545 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -98.5 -98488 2 HDGF GABPA ZNF83 POLR2A EED ZNF143 ETV6 SPI1 DMAC2 ERICH4 LINC01480 ENSG00000268355 EXOSC5 PCAT19 CEACAM21 ARHGEF1 CD79A B9D2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DMAC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMAC2 Gene

Chromosome:
19
Start:
41,431,318 bp from pter
End:
41,447,827 bp from pter
Size:
16,510 bases
Orientation:
Minus strand

Genomic View for DMAC2 Gene

Genes around DMAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMAC2 Gene

Proteins for DMAC2 Gene

  • Protein details for DMAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW81-DMAC2_HUMAN
    Recommended name:
    Distal membrane-arm assembly complex protein 2
    Protein Accession:
    Q9NW81
    Secondary Accessions:
    • B4DDC0
    • B4DMZ4
    • B4DP55
    • B4DXE8
    • F5H4W7
    • K7EMF6
    • Q96D43

    Protein attributes for DMAC2 Gene

    Size:
    257 amino acids
    Molecular mass:
    29267 Da
    Quaternary structure:
    • Interacts with incompletely assembled mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

    Alternative splice isoforms for DMAC2 Gene

neXtProt entry for DMAC2 Gene

Post-translational modifications for DMAC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMAC2 Gene

Domains & Families for DMAC2 Gene

Gene Families for DMAC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DMAC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DMAC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NW81

UniProtKB/Swiss-Prot:

DMAC2_HUMAN :
  • Belongs to the ATP synthase subunit s family.
Family:
  • Belongs to the ATP synthase subunit s family.
genes like me logo Genes that share domains with DMAC2: view

Function for DMAC2 Gene

Molecular function for DMAC2 Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

Phenotypes From GWAS Catalog for DMAC2 Gene

genes like me logo Genes that share phenotypes with DMAC2: view

Animal Model Products

CRISPR Products

miRNA for DMAC2 Gene

miRTarBase miRNAs that target DMAC2

Clone Products

  • Applied Biological Materials Clones for DMAC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DMAC2 Gene

Localization for DMAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMAC2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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 DMAC2 gene
Compartment Confidence
mitochondrion 3
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DMAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005747 colocalizes_with mitochondrial respiratory chain complex I IDA 27626371
genes like me logo Genes that share ontologies with DMAC2: view

Pathways & Interactions for DMAC2 Gene

SuperPathways for DMAC2 Gene

No Data Available

Interacting Proteins for DMAC2 Gene

Gene Ontology (GO) - Biological Process for DMAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 27626371
genes like me logo Genes that share ontologies with DMAC2: view

No data available for Pathways by source and SIGNOR curated interactions for DMAC2 Gene

Drugs & Compounds for DMAC2 Gene

No Compound Related Data Available

Transcripts for DMAC2 Gene

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for DMAC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DMAC2 Gene

No ASD Table

Relevant External Links for DMAC2 Gene

GeneLoc Exon Structure for
DMAC2
ECgene alternative splicing isoforms for
DMAC2

Expression for DMAC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DMAC2 Gene:

DMAC2

Evidence on tissue expression from TISSUES for DMAC2 Gene

  • Lung(4.9)
  • Bone marrow(4.2)
  • Nervous system(4.2)
  • Muscle(2.4)
  • Heart(2.1)
  • Intestine(2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMAC2 Gene

Orthologs for DMAC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMAC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5SL 33 34
  • 98.18 (n)
cow
(Bos Taurus)
Mammalia ATP5SL 33 34
  • 81.32 (n)
dog
(Canis familiaris)
Mammalia ATP5SL 33 34
  • 78.86 (n)
mouse
(Mus musculus)
Mammalia Atp5sl 33 34
  • 76.13 (n)
Dmac2 16
rat
(Rattus norvegicus)
Mammalia Atp5sl 33
  • 75.59 (n)
lizard
(Anolis carolinensis)
Reptilia ATP5SL 34
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5sl 33
  • 55.82 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch1073-228b5.2 33
  • 50.41 (n)
ATP5SL 34
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4042 34
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y53G8AR.8 34
  • 15 (a)
OneToOne
Species where no ortholog for DMAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for DMAC2 Gene

ENSEMBL:
Gene Tree for DMAC2 (if available)
TreeFam:
Gene Tree for DMAC2 (if available)

Paralogs for DMAC2 Gene

Paralogs for DMAC2 Gene

genes like me logo Genes that share paralogs with DMAC2: view

Variants for DMAC2 Gene

Sequence variations from dbSNP and Humsavar for DMAC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000057048 -- 41,443,154(+) TGCAG(C/T)CATAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000173416 -- 41,440,070(+) CCTGA(A/G)CTTCA intron-variant, upstream-variant-2KB
rs1000399431 -- 41,434,106(+) GGCAG(A/G)CGCCT intron-variant
rs1000673815 -- 41,439,809(+) GCCGC(C/T)AACAG intron-variant, upstream-variant-2KB
rs1000798840 -- 41,434,478(+) ATAAC(A/G)TAAGA intron-variant

Variation tolerance for DMAC2 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMAC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMAC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DMAC2 Gene

Disorders for DMAC2 Gene

Relevant External Links for DMAC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMAC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMAC2

No disorders were found for DMAC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DMAC2 Gene

Publications for DMAC2 Gene

  1. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 60
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 60
  5. Assembly factors for the membrane arm of human complex I. (PMID: 24191001) Andrews B … Walker JE (Proceedings of the National Academy of Sciences of the United States of America 2013) 4 60

Products for DMAC2 Gene

Sources for DMAC2 Gene

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