Gene Gene information from NCBI Gene database.
Entrez ID 392636
Gene name Alkylglycerol monooxygenase
Gene symbol AGMO
Synonyms (NCBI Gene)
TMEM195
Chromosome 7
Chromosome location 7p21.2
Summary 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.
1
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.
134
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613738 33784 ENSG00000187546
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGMO-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AGMO-related Neurodevelopmental disorder Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 28446149 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 20081858, 31049640 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 20081858, 22992776, 31520154
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 31049640
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy GENOMICS_ENGLAND_DG 27000257, 31555905
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia Pubtator 20870969 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 27000257
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation GENOMICS_ENGLAND_DG 27000257, 31555905
★☆☆☆☆
Found in Text Mining only
Intracranial Aneurysm Intracranial Aneurysm BEFREE 20613766
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly GENOMICS_ENGLAND_DG 27000257, 31555905
★☆☆☆☆
Found in Text Mining only