Aliases for ATP5MGL Gene

Aliases for ATP5MGL Gene

  • ATP Synthase Membrane Subunit G Like 2 3 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit G2 Pseudogene 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit G2 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial F1F0, Subunit G 2 3
  • Putative ATP Synthase Subunit G 2, Mitochondrial 3 4
  • ATP Synthase Membrane Subunit G-Like Protein 3 4
  • ATPase Subunit G 2 3 4
  • ATP5K2 3 4
  • ATP5L2 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit G, Isoform 2 2
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit G2 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit G2 2
  • ATP Synthase Subunit G 2, Mitochondrial 3
  • DJ222E13.5 2
  • ATP5MGL 5

External Ids for ATP5MGL Gene

Previous HGNC Symbols for ATP5MGL Gene

  • ATP5K2
  • ATP5L2

Previous GeneCards Identifiers for ATP5MGL Gene

  • GC22M042820
  • GC22M042917
  • GC22M042983
  • GC22M044578
  • GC22M042642
  • GC22M042771
  • GC22M042723
  • GC22M045419
  • GC22M046275

Summaries for ATP5MGL Gene

GeneCards Summary for ATP5MGL Gene

ATP5MGL (ATP Synthase Membrane Subunit G Like) is a Protein Coding gene. Diseases associated with ATP5MGL include Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase and Congenital Methemoglobinemia. Among its related pathways are purine nucleotides de novo biosynthesis. An important paralog of this gene is ATP5MG.

UniProtKB/Swiss-Prot Summary for ATP5MGL Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5MGL Gene

Genomics for ATP5MGL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP5MGL 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
GH22J042638 Enhancer 0.3 Ensembl 250.7 +1.7 1700 0.2 ZNF362 ATP5MGL HSALNG0135728 lnc-ATP5MGL-1 CYB5R3 POLDIP3
GH22J042612 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 +25.9 25933 4.7 BCLAF1 SP1 ZNF207 ZNF654 MYC IKZF1 NCOR1 ZNF600 SIX5 SSRP1 POLDIP3 ENSG00000270022 RNU12 lnc-CYB5R3-1 RN7SKP80 RPL5P34 RRP7BP XRCC6 NAGA PHETA2
GH22J042957 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -320.0 -320007 6.4 NCOR1 MYC IKZF1 ZNF600 SSRP1 ATF2 KLF9 CEBPA ZNF10 ATF3 PACSIN2 piR-54764-429 ARFGAP3 TTLL1-AS1 CYB5R3 ATP5MGL OGFRP1 LOC107985550 RF00017-3488
GH22J042799 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 -159.8 -159842 2.2 SSRP1 CEBPA ZIC2 MXD4 CHD2 HOMEZ KMT2B THAP11 MBD2 FOXA2 ARFGAP3 CYB5R3 ATP5MGL ENSG00000274717 HSALNG0135744 A4GALT
GH22J042675 Enhancer 1 FANTOM5 ENCODE dbSUPER 12 -36.0 -35995 1.6 RXRA ETV4 RARA GABPB1 PRDM6 SOX5 HBP1 NR2F6 ELF3 IKZF5 A4GALT CYB5R3 ATP5MGL ARFGAP3 NFAM1 piR-43105-440 lnc-A4GALT-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5MGL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5MGL

Genomic Locations for ATP5MGL Gene

Latest Assembly
chr22:42,639,803-42,640,601
(GRCh38/hg38)
Size:
799 bases
Orientation:
Minus strand

Previous Assembly
chr22:43,035,809-43,036,607
(GRCh37/hg19 by Entrez Gene)
Size:
799 bases
Orientation:
Minus strand

chr22:43,035,809-43,036,607
(GRCh37/hg19 by Ensembl)
Size:
799 bases
Orientation:
Minus strand

Genomic View for ATP5MGL Gene

Genes around ATP5MGL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MGL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MGL Gene

Proteins for ATP5MGL Gene

  • Protein details for ATP5MGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4Y8-AT5L2_HUMAN
    Recommended name:
    Putative ATP synthase subunit g 2, mitochondrial
    Protein Accession:
    Q7Z4Y8

    Protein attributes for ATP5MGL Gene

    Size:
    100 amino acids
    Molecular mass:
    11037 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L).

neXtProt entry for ATP5MGL Gene

Post-translational modifications for ATP5MGL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP5MGL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5MGL Gene

Domains & Families for ATP5MGL Gene

Gene Families for ATP5MGL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATP5MGL Gene

InterPro:
Blocks:
  • Mitochondrial ATP synthase g subunit

Suggested Antigen Peptide Sequences for ATP5MGL Gene

GenScript: Design optimal peptide antigens:
  • ATP synthase subunit g 2, mitochondrial (AT5L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z4Y8

UniProtKB/Swiss-Prot:

AT5L2_HUMAN :
  • Belongs to the ATPase g subunit family.
Family:
  • Belongs to the ATPase g subunit family.
genes like me logo Genes that share domains with ATP5MGL: view

Function for ATP5MGL Gene

Molecular function for ATP5MGL Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).

Phenotypes From GWAS Catalog for ATP5MGL Gene

Gene Ontology (GO) - Molecular Function for ATP5MGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 proton transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with ATP5MGL: view
genes like me logo Genes that share phenotypes with ATP5MGL: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATP5MGL Gene

Localization for ATP5MGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MGL Gene

Mitochondrion 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 ATP5MGL gene
Compartment Confidence
mitochondrion 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5MGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA 21873635
GO:0005739 mitochondrion IEA,IDA --
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o) IEA --
genes like me logo Genes that share ontologies with ATP5MGL: view

Pathways & Interactions for ATP5MGL Gene

genes like me logo Genes that share pathways with ATP5MGL: view

Gene Ontology (GO) - Biological Process for ATP5MGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process IEA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IBA 21873635
genes like me logo Genes that share ontologies with ATP5MGL: view

No data available for SIGNOR curated interactions for ATP5MGL Gene

Drugs & Compounds for ATP5MGL Gene

No Compound Related Data Available

Transcripts for ATP5MGL Gene

mRNA/cDNA for ATP5MGL Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MGL Gene

No ASD Table

Relevant External Links for ATP5MGL Gene

GeneLoc Exon Structure for
ATP5MGL

Expression for ATP5MGL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5MGL

Evidence on tissue expression from TISSUES for ATP5MGL Gene

  • Liver(4)
No Expression Related Data Available

Primer products for research

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 ATP5MGL Gene

Orthologs for ATP5MGL Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP5MGL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP5L2 29
  • 98 (n)
Cow
(Bos Taurus)
Mammalia ATP5L 30
  • 83 (a)
ManyToMany
-- 30
  • 81 (a)
ManyToMany
-- 30
  • 81 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 81 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Atp5l-ps1 30
  • 73 (a)
ManyToMany
Gm10221 30
  • 72 (a)
ManyToMany
Atp5l 30
  • 72 (a)
ManyToMany
Gm5426 30
  • 67 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 52 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 58 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii atp5l 30
  • 59 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)06225 30
  • 49 (a)
ManyToMany
CG7211 30
  • 36 (a)
ManyToMany
Species where no ortholog for ATP5MGL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ATP5MGL Gene

ENSEMBL:
Gene Tree for ATP5MGL (if available)
TreeFam:
Gene Tree for ATP5MGL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5MGL: view image
Alliance of Genome Resources:
Additional Orthologs for ATP5MGL

Paralogs for ATP5MGL Gene

Paralogs for ATP5MGL Gene

Pseudogenes.org Pseudogenes for ATP5MGL Gene

genes like me logo Genes that share paralogs with ATP5MGL: view

Variants for ATP5MGL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5MGL Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
1033008 Pathogenic: Deficiency of cytochrome-b5 reductase 42,640,108(-) A/AT
NM_000398.7(CYB5R3):c.22-3269dup
FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP5MGL 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 ATP5MGL Gene

Variant ID Type Subtype PubMed ID
esv2758839 CNV gain+loss 17122850
nsv428391 CNV gain 18775914

Variation tolerance for ATP5MGL Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MGL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MGL
Leiden Open Variation Database (LOVD)
ATP5MGL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5MGL Gene

Disorders for ATP5MGL Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP5MGL Gene - From: CVR

Disorder Aliases PubMed IDs
methemoglobinemia due to deficiency of methemoglobin reductase
  • nadh-dependent methemoglobin reductase deficiency
congenital methemoglobinemia
  • hereditary methemoglobinemia
dihydrolipoamide dehydrogenase deficiency
  • dldd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP5MGL

genes like me logo Genes that share disorders with ATP5MGL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5MGL Gene

Publications for ATP5MGL Gene

  1. 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
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3
  4. Sequence of a cDNA encoding mouse F1F0-ATP synthase g subunit. (PMID: 10361692) Jeon D … Baik M (Bioscience, biotechnology, and biochemistry 1999) 3

Products for ATP5MGL Gene

Sources for ATP5MGL Gene