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Aliases for AGMO Gene

Aliases for AGMO Gene

  • Alkylglycerol Monooxygenase 2 3 3 5
  • Transmembrane Protein 195 2 3 4
  • TMEM195 3 4
  • Glyceryl-Ether Monooxygenase 3
  • EC 1.14.16.5 4

External Ids for AGMO Gene

Previous HGNC Symbols for AGMO Gene

  • TMEM195

Summaries for AGMO Gene

Entrez Gene Summary for AGMO Gene

  • The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]

GeneCards Summary for AGMO Gene

AGMO (Alkylglycerol Monooxygenase) is a Protein Coding gene. Diseases associated with AGMO include Visceral Leishmaniasis. Among its related pathways are Metabolism and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and glyceryl-ether monooxygenase activity.

UniProtKB/Swiss-Prot for AGMO Gene

  • Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.

Additional gene information for AGMO Gene

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

Genomics for AGMO Gene

GeneHancer (GH) Regulatory Elements for AGMO Gene

Promoters and enhancers for AGMO 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
GH07J015561 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 650.7 +0.2 213 1.5 TAF1 MAX RAD21 YY1 EGR1 HNF4G ATF7 RXRA NFIA REST AGMO GC07M015516 GC07P015321
GH07J015506 Enhancer 0.3 ENCODE 11.3 +54.7 54669 1.2 CREB1 AGMO GC07M015516 GC07M015454 GC07M015455 GC07P015321
GH07J015800 Enhancer 0.5 Ensembl ENCODE 4.9 -240.2 -240232 3 CREB1 GC07P015800 LOC105375167 AGMO
GH07J015514 Enhancer 0.2 ENCODE 10.3 +46.6 46627 1.2 AGMO GC07M015516 GC07M015454 GC07M015455 GC07P015321
GH07J015820 Enhancer 0.3 ENCODE 5.9 -259.6 -259572 1.6 NR2F2 AGMO GC07P015827 PIR46416
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGMO on UCSC Golden Path with GeneCards custom track

Genomic Locations for AGMO Gene

Genomic Locations for AGMO Gene
chr7:15,159,124-15,562,015
(GRCh38/hg38)
Size:
402,892 bases
Orientation:
Minus strand
chr7:15,239,943-15,601,640
(GRCh37/hg19)
Size:
361,698 bases
Orientation:
Minus strand

Genomic View for AGMO Gene

Genes around AGMO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AGMO Gene

Proteins for AGMO Gene

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

    Protein Symbol:
    Q6ZNB7-ALKMO_HUMAN
    Recommended name:
    Alkylglycerol monooxygenase
    Protein Accession:
    Q6ZNB7
    Secondary Accessions:
    • A4D114
    • A6NCH5

    Protein attributes for AGMO Gene

    Size:
    445 amino acids
    Molecular mass:
    51500 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAL24290.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for AGMO Gene

Post-translational modifications for AGMO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGMO Gene

No data available for DME Specific Peptides for AGMO Gene

Domains & Families for AGMO Gene

Gene Families for AGMO Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for AGMO Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AGMO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZNB7

UniProtKB/Swiss-Prot:

ALKMO_HUMAN :
  • Belongs to the sterol desaturase family. TMEM195 subfamily.
Family:
  • Belongs to the sterol desaturase family. TMEM195 subfamily.
genes like me logo Genes that share domains with AGMO: view

Function for AGMO Gene

Molecular function for AGMO Gene

UniProtKB/Swiss-Prot Function:
Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.
UniProtKB/Swiss-Prot CatalyticActivity:
1-alkyl-sn-glycerol + tetrahydrobiopterin + O(2) = 1-O-alkyl-sn-glycerol + dihydrobiopterin + H(2)O.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11 uM for 1-O pyrenedecyl glycerol (in presence of ALDH3A2) {ECO:0000269 PubMed:20643956}; KM=2.58 uM for tetrahydrobiopterin (in presence of ALDH3A2) {ECO:0000269 PubMed:20643956};

Enzyme Numbers (IUBMB) for AGMO Gene

Phenotypes From GWAS Catalog for AGMO Gene

Gene Ontology (GO) - Molecular Function for AGMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IMP 20643956
GO:0016491 oxidoreductase activity IEA --
GO:0050479 glyceryl-ether monooxygenase activity TAS --
genes like me logo Genes that share ontologies with AGMO: view

Phenotypes for AGMO Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AGMO Gene

Localization for AGMO Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGMO Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 AGMO gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AGMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 20643956
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AGMO: view

Pathways & Interactions for AGMO Gene

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

Interacting Proteins for AGMO Gene

Gene Ontology (GO) - Biological Process for AGMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006643 membrane lipid metabolic process IDA 20643956
GO:0008610 lipid biosynthetic process IEA --
GO:0019432 triglyceride biosynthetic process TAS --
GO:0046485 ether lipid metabolic process IDA 20643956
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with AGMO: view

No data available for SIGNOR curated interactions for AGMO Gene

Drugs & Compounds for AGMO Gene

(3) Drugs for AGMO Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
dihydrobiopterin Experimental Pharma 0

(1) Additional Compounds for AGMO Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-erythro-tetrahydrobiopterin
  • (-)-(6R)-2-amino-6-((1R,2S)-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone
  • (6R)-L-erythro-Tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone
  • 5,6,7,8-Tetrahydrobiopterin
  • 6R-5,6,7,8-Tetrahydrobiopterin
genes like me logo Genes that share compounds with AGMO: view

Transcripts for AGMO Gene

mRNA/cDNA for AGMO Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AGMO Gene

Alkylglycerol monooxygenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for AGMO Gene

GeneLoc Exon Structure for
AGMO
ECgene alternative splicing isoforms for
AGMO

Expression for AGMO Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGMO Gene

This gene is overexpressed in Liver (x27.8).

Protein differential expression in normal tissues from HIPED for AGMO Gene

This gene is overexpressed in Liver (46.6) and Fetal Liver (22.4).

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



Protein tissue co-expression partners for AGMO Gene

NURSA nuclear receptor signaling pathways regulating expression of AGMO Gene:

AGMO

SOURCE GeneReport for Unigene cluster for AGMO Gene:

Hs.670634

Evidence on tissue expression from TISSUES for AGMO Gene

  • Liver(4.3)
  • Eye(4)
genes like me logo Genes that share expression patterns with AGMO: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGMO Gene

Orthologs for AGMO Gene

This gene was present in the common ancestor of animals.

Orthologs for AGMO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGMO 34 33
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGMO 34 33
  • 89.62 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AGMO 34 33
  • 87.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Agmo 16 34 33
  • 84.64 (n)
rat
(Rattus norvegicus)
Mammalia Agmo 33
  • 83.07 (n)
oppossum
(Monodelphis domestica)
Mammalia AGMO 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGMO 34 33
  • 70.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGMO 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agmo 33
  • 66.9 (n)
zebrafish
(Danio rerio)
Actinopterygii agmo 34 33
  • 61.44 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea agmo-1 34 33
  • 48.88 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for AGMO 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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 AGMO Gene

ENSEMBL:
Gene Tree for AGMO (if available)
TreeFam:
Gene Tree for AGMO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGMO: view image

Paralogs for AGMO Gene

(1) SIMAP similar genes for AGMO Gene using alignment to 3 proteins:

  • ALKMO_HUMAN
  • H0Y3V1_HUMAN
  • H7C0E0_HUMAN
genes like me logo Genes that share paralogs with AGMO: view

No data available for Paralogs for AGMO Gene

Variants for AGMO Gene

Sequence variations from dbSNP and Humsavar for AGMO Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs150962030 uncertain-significance, not specified 15,394,136(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs370958429 uncertain-significance, not specified 15,560,250(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs770368536 uncertain-significance, not specified 15,365,506(-) T/ intron_variant
rs1000006026 -- 15,395,294(-) G/A/T intron_variant
rs1000008478 -- 15,426,361(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv958456 CNV insertion 24416366
nsv958444 CNV deletion 24416366
nsv958425 CNV deletion 24416366
nsv606298 CNV loss 21841781
nsv606297 CNV loss 21841781
nsv606296 CNV gain 21841781
nsv606295 CNV loss 21841781
nsv606294 CNV loss 21841781
nsv606293 CNV loss 21841781
nsv606292 CNV loss 21841781
nsv606283 CNV gain 21841781
nsv524952 CNV loss 19592680
nsv524706 CNV loss 19592680
nsv523199 CNV gain 19592680
nsv522976 CNV gain 19592680
nsv518175 CNV loss 19592680
nsv517723 CNV loss 19592680
nsv478635 CNV novel sequence insertion 20440878
nsv478263 CNV novel sequence insertion 20440878
nsv477260 CNV novel sequence insertion 20440878
nsv437537 CNV loss 16327808
nsv366752 CNV deletion 16902084
nsv1161502 CNV duplication 26073780
nsv1143341 CNV deletion 24896259
nsv1142485 CNV tandem duplication 24896259
nsv1137194 CNV deletion 24896259
nsv1132038 CNV deletion 24896259
nsv1124178 CNV deletion 24896259
nsv1124177 CNV deletion 24896259
nsv1074490 CNV deletion 25765185
nsv1074075 CNV deletion 25765185
nsv1068711 OTHER inversion 25765185
nsv1031116 CNV loss 25217958
nsv1028108 CNV loss 25217958
nsv1027167 CNV loss 25217958
nsv1026826 CNV loss 25217958
nsv1024435 CNV loss 25217958
nsv1023616 CNV gain 25217958
nsv1017176 CNV loss 25217958
nsv1016210 CNV loss 25217958
esv3891068 CNV loss 25118596
esv3891067 CNV loss 25118596
esv3612368 CNV loss 21293372
esv3612365 CNV loss 21293372
esv3612364 CNV gain 21293372
esv3612363 CNV gain 21293372
esv3612362 CNV loss 21293372
esv3612361 CNV gain 21293372
esv3612360 CNV loss 21293372
esv3612359 CNV gain 21293372
esv3612357 CNV loss 21293372
esv3612355 CNV gain 21293372
esv3612354 CNV loss 21293372
esv3612353 CNV loss 21293372
esv3612351 CNV loss 21293372
esv3612341 CNV gain 21293372
esv3576295 CNV gain 25503493
esv3571666 CNV loss 25503493
esv3571665 CNV loss 25503493
esv3391748 CNV duplication 20981092
esv3302565 CNV tandem duplication 20981092
esv2759512 CNV loss 17122850
esv2734046 CNV deletion 23290073
esv2734045 CNV deletion 23290073
esv2734044 CNV deletion 23290073
esv2734043 CNV deletion 23290073
esv2676612 CNV deletion 23128226
esv2673770 CNV deletion 23128226
esv2673644 CNV deletion 23128226
esv2670331 CNV deletion 23128226
esv2668496 CNV deletion 23128226
esv2662398 CNV deletion 23128226
esv26270 CNV loss 19812545
esv1274113 CNV insertion 17803354
esv1002080 CNV deletion 20482838
dgv6288n100 CNV loss 25217958
dgv6287n100 CNV loss 25217958
dgv6286n100 CNV gain 25217958
dgv410n21 CNV loss 19592680
dgv1271e214 CNV gain 21293372
dgv1270e214 CNV loss 21293372

Variation tolerance for AGMO Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGMO Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGMO Gene

MalaCards: The human disease database

(1) MalaCards diseases for AGMO Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
visceral leishmaniasis
  • infection by visceral leishmaniasis
- elite association - COSMIC cancer census association via MalaCards
Search AGMO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGMO

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

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

Publications for AGMO Gene

  1. Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymes. (PMID: 20643956) Watschinger K … Werner ER (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 58
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  3. Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan. (PMID: 28586473) Marquet S … Dessein AJ (The Journal of infectious diseases 2017) 3 58
  4. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. (PMID: 27000257) Alrayes N … Jelani M (Journal of the neurological sciences 2016) 3 58
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 58

Products for AGMO Gene

Sources for AGMO Gene

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