This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton c... See more...

Aliases for DMAC2L Gene

Aliases for DMAC2L Gene

  • Distal Membrane Arm Assembly Component 2 Like 2 3
  • Distal Membrane Arm Assembly Complex 2 Like 2 3 5
  • ATPW 2 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit S (Factor B) 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit S (Factor B) 2 3
  • Mitochondrial ATP Synthase Regulatory Component Factor B 3 4
  • Distal Membrane Arm Assembly Complex 2-Like Protein 3 4
  • ATP Synthase Subunit S, Mitochondrial 3 4
  • ATP Synthase-Coupling Factor B 3 4
  • HSU79253 2 3
  • ATP5S 3 4
  • FB 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit S (Factor B) 2
  • ATP Synthase Coupling Factor B, Mitochondrial 3
  • ATP Synthase Coupling Factor B-Like 1 3
  • DMAC2L 5

External Ids for DMAC2L Gene

Previous HGNC Symbols for DMAC2L Gene

  • ATP5S

Summaries for DMAC2L Gene

Entrez Gene Summary for DMAC2L Gene

  • This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for DMAC2L Gene

DMAC2L (Distal Membrane Arm Assembly Component 2 Like) is a Protein Coding gene. Diseases associated with DMAC2L include L-2-Hydroxyglutaric Aciduria and 2-Hydroxyglutaric Aciduria. Among its related pathways are purine nucleotides de novo biosynthesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot Summary for DMAC2L Gene

  • Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway.

Gene Wiki entry for DMAC2L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMAC2L Gene

Genomics for DMAC2L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DMAC2L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J050311 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 283.8 +0.6 585 3.4 BCLAF1 ZNF207 MYC ZNF600 ZNF592 POLR2A ZNF10 ZIC2 YY1 MXD4 DMAC2L L2HGDH lnc-CDKL1-2 VCPKMT ATL1 MAP4K5 SOS2
GH14J050319 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 33.6 +9.3 9274 3.5 BCLAF1 ZNF654 NCOR1 ZNF600 IKZF1 SSRP1 JUND ATF2 ZBTB10 CTCF HSALNG0101167 HSALNG0101168 DMAC2L KLHDC2 NEMF SAV1 MAP4K5 CDKL1 piR-31938-006 L2HGDH
GH14J050229 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 22.2 -80.3 -80300 4.8 ZNF207 KLF9 POLR2A CEBPA ZIC2 ZBTB10 YY1 MXD4 NONO CEBPB SOS2 VCPKMT DMAC2L ENSG00000282885
GH14J050334 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 29.6 +24.2 24186 2.5 IKZF1 POLR2A ZIC2 FEZF1 BHLHE40 TAL1 ZNF316 PRDM6 ZNF189 MAFK DMAC2L CDKL1 ATL1 MAP4K5 SOS2 NONHSAG014911.2 L2HGDH piR-31470-165
GH14J050303 Enhancer 1.1 Ensembl ENCODE 26.2 -7.3 -7315 2.4 CEBPA YY1 CEBPB BHLHE40 HOMEZ ZNF217 KMT2B THAP11 FOXA2 CTBP1 DMAC2L ATL1 MAP4K5 CDKL1 MIR4504 L2HGDH lnc-CDKL1-2 SOS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMAC2L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DMAC2L

Genomic Locations for DMAC2L Gene

Latest Assembly
chr14:50,311,516-50,335,558
(GRCh38/hg38)
Size:
24,043 bases
Orientation:
Plus strand

Previous Assembly
chr14:50,778,234-50,794,675
(GRCh37/hg19 by Entrez Gene)
Size:
16,442 bases
Orientation:
Plus strand

chr14:50,779,044-50,802,276
(GRCh37/hg19 by Ensembl)
Size:
23,233 bases
Orientation:
Plus strand

Genomic View for DMAC2L Gene

Genes around DMAC2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMAC2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMAC2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMAC2L Gene

Proteins for DMAC2L Gene

  • Protein details for DMAC2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99766-ATP5S_HUMAN
    Recommended name:
    ATP synthase subunit s, mitochondrial
    Protein Accession:
    Q99766
    Secondary Accessions:
    • A8K1U3
    • D9N156
    • Q8WWX3
    • Q96F77

    Protein attributes for DMAC2L Gene

    Size:
    215 amino acids
    Molecular mass:
    24866 Da
    Quaternary structure:
    • Homotetramer. Associates with ATP synthase.

    Alternative splice isoforms for DMAC2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMAC2L Gene

Post-translational modifications for DMAC2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMAC2L Gene

Domains & Families for DMAC2L Gene

Gene Families for DMAC2L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DMAC2L Gene

Suggested Antigen Peptide Sequences for DMAC2L Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ATP synthase regulatory component factor B (ATP5S_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99766

UniProtKB/Swiss-Prot:

ATP5S_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 DMAC2L: view

Function for DMAC2L Gene

Molecular function for DMAC2L Gene

UniProtKB/Swiss-Prot Function:
Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway.

Phenotypes From GWAS Catalog for DMAC2L Gene

Gene Ontology (GO) - Molecular Function for DMAC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0015078 proton transmembrane transporter activity NAS 6143319
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DMAC2L: view
genes like me logo Genes that share phenotypes with DMAC2L: view

Animal Models for DMAC2L Gene

MGI Knock Outs for DMAC2L:
  • Dmac2l Dmac2l<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMAC2L

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMAC2L Gene

Localization for DMAC2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMAC2L Gene

Mitochondrion. Mitochondrion inner membrane.

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 DMAC2L gene
Compartment Confidence
mitochondrion 4
extracellular 2
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMAC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o) IEA --
genes like me logo Genes that share ontologies with DMAC2L: view

Pathways & Interactions for DMAC2L Gene

genes like me logo Genes that share pathways with DMAC2L: view

Gene Ontology (GO) - Biological Process for DMAC2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0042407 cristae formation TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
GO:1902600 proton transmembrane transport NAS 6143319
genes like me logo Genes that share ontologies with DMAC2L: view

No data available for SIGNOR curated interactions for DMAC2L Gene

Drugs & Compounds for DMAC2L Gene

No Compound Related Data Available

Transcripts for DMAC2L Gene

mRNA/cDNA for DMAC2L Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMAC2L

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for DMAC2L Gene

No ASD Table

Relevant External Links for DMAC2L Gene

GeneLoc Exon Structure for
DMAC2L

Expression for DMAC2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Heart (Cardiovascular System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DMAC2L

SOURCE GeneReport for Unigene cluster for DMAC2L Gene:

Hs.438489

Evidence on tissue expression from TISSUES for DMAC2L Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with DMAC2L: view

Primer products for research

No data available for mRNA expression in normal human tissues , 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 DMAC2L Gene

Orthologs for DMAC2L Gene

This gene was present in the common ancestor of animals.

Orthologs for DMAC2L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP5S 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP5S 29 30
  • 91.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP5S 29 30
  • 89.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp5s 29 30
  • 84.67 (n)
OneToOne
Dmac2l 16
Rat
(Rattus norvegicus)
Mammalia Atp5s 29
  • 83.17 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 66 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ATP5S 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP5S 29 30
  • 68.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP5S 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp5s 29
  • 66.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp5s 29 30
  • 62.12 (n)
OneToOne
-- 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004478 29
  • 49.4 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10731 29 30
  • 46.78 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea C05C8.1 30
  • 25 (a)
OneToOne
Species where no ortholog for DMAC2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 DMAC2L Gene

ENSEMBL:
Gene Tree for DMAC2L (if available)
TreeFam:
Gene Tree for DMAC2L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMAC2L: view image
Alliance of Genome Resources:
Additional Orthologs for DMAC2L

Paralogs for DMAC2L Gene

No data available for Paralogs for DMAC2L Gene

Variants for DMAC2L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DMAC2L Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1010586 Uncertain Significance: L-2-hydroxyglutaric aciduria 50,312,033(+) C/G
NM_024884.3(L2HGDH):c.118G>C (p.Gly40Arg)
MISSENSE_VARIANT,INTRON
rs113626637 Benign/Likely Benign: L-2-hydroxyglutaric aciduria; not specified; not provided 50,312,145(+) C/A
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
SYNONYMOUS
rs1210324318 Likely Benign: not provided 50,312,091(+) G/A
NM_024884.3(L2HGDH):c.60C>T (p.Ala20=)
SYNONYMOUS
rs148241854 Likely Benign: not provided 50,312,143(+) G/A
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu)
MISSENSE
rs201806251 Likely Benign: L-2-hydroxyglutaric aciduria; not specified 50,312,014(+) G/A
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DMAC2L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DMAC2L Gene

Variant ID Type Subtype PubMed ID
esv28926 CNV gain+loss 19812545
nsv1052059 CNV loss 25217958
nsv564835 CNV gain 21841781
nsv832793 CNV loss 17160897

Variation tolerance for DMAC2L Gene

Residual Variation Intolerance Score: 83.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMAC2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMAC2L
Leiden Open Variation Database (LOVD)
DMAC2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMAC2L Gene

Disorders for DMAC2L Gene

MalaCards: The human disease database

(2) MalaCards diseases for DMAC2L Gene - From: GCD

Disorder Aliases PubMed IDs
l-2-hydroxyglutaric aciduria
  • l2hga
2-hydroxyglutaric aciduria
  • 2-hydroxyglutaricaciduria
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DMAC2L

genes like me logo Genes that share disorders with DMAC2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMAC2L Gene

Publications for DMAC2L Gene

  1. Factor B and the mitochondrial ATP synthase complex. (PMID: 11744738) Belogrudov GI … Hatefi Y (The Journal of biological chemistry 2002) 2 3 4
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 3 4
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for DMAC2L Gene

Sources for DMAC2L Gene