Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
392636
Gene name Gene Name - the full gene name approved by the HGNC.
Alkylglycerol monooxygenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGMO
Synonyms (NCBI Gene) Gene synonyms aliases
TMEM195
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.2
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs139309795 G>A Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT663516 hsa-miR-4722-3p HITS-CLIP 23824327
MIRT663515 hsa-miR-6727-3p HITS-CLIP 23824327
MIRT663514 hsa-miR-6747-3p HITS-CLIP 23824327
MIRT663513 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT663512 hsa-miR-1976 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005506 Function Iron ion binding IMP 20643956
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 20643956
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613738 33784 ENSG00000187546
Protein
UniProt ID Q6ZNB7
Protein name Alkylglycerol monooxygenase (EC 1.14.16.5) (Transmembrane protein 195)
Protein function Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04116 FA_hydroxylase 117 249 Fatty acid hydroxylase superfamily Family
Sequence
MKNPEAQQDVSVSQGFRMLFYTMKPSETSFQTLEEVPDYVKKATPFFISLMLLELVVSWI
LKGKPPGRLDDALTSISAGVLSRLPSLFFRSIELTSYIYIWENYRLFNLPWDSPWTWYSA
FLGVDFGYYWFHRMAHEVNIMWAGHQTHHSSEDYNLSTALRQSVLQIYTSWIFYSPLALF
IPPSVYAVHLQFNLLYQFWIHTEVINNLGPLELILNTPSHHRVHHGRNRYCIDKNYAGVL
IIWDKIFGT
FEAENEKVVYGLTHPINTFEPIKVQFHHLFSIWTTFWATPGFFNKFSVIFK
GPGWGPGKPRLGLSEEIPEVTGKEVPFSSSSSQLLKIYTVVQFALMLAFYEETFADTAAL
SQVTLLLRVCFIILTLTSIGFLLDQRPKAAIMETLRCLMFLMLYRFGHLKPLVPSLSSAF
EIVFSICIAFWGVRSMKQLTSHPWK
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Triglyceride biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder N/A N/A GenCC
Cataract Cataract N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes (PheCode 250.2), Diabetes N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 28446149
Diabetes Mellitus Type 2 Associate 20081858, 31049640
Hypoglycemia Associate 20870969
Neoplasms Associate 28446149
Obesity Associate 27377425, 28446149
Tuberculosis Pulmonary Associate 26767831