Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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.

SNP ID	Visualize variation	Clinical significance	Consequence
rs139309795	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, stop gained

134 Show/Hide all (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
MIRT663511	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT663510	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT663509	hsa-miR-4279	HITS-CLIP	23824327
MIRT663508	hsa-miR-498	HITS-CLIP	23824327
MIRT619697	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT619696	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT619695	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT619694	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619693	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT619692	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619691	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT619690	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT619689	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619688	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT619687	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT619686	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT619685	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619684	hsa-miR-5698	HITS-CLIP	23824327
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
MIRT663511	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT663510	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT663509	hsa-miR-4279	HITS-CLIP	23824327
MIRT663508	hsa-miR-498	HITS-CLIP	23824327
MIRT619697	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT619696	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT619695	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT619694	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619693	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT619692	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT619691	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT619690	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT619689	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT619688	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT619687	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT619686	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT619685	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619684	hsa-miR-5698	HITS-CLIP	23824327
MIRT772196	hsa-miR-122	CLIP-seq
MIRT772197	hsa-miR-139-3p	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT772199	hsa-miR-326	CLIP-seq
MIRT772200	hsa-miR-330-5p	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT772202	hsa-miR-3675-3p	CLIP-seq
MIRT772203	hsa-miR-378	CLIP-seq
MIRT772204	hsa-miR-378b	CLIP-seq
MIRT772205	hsa-miR-378c	CLIP-seq
MIRT772206	hsa-miR-378d	CLIP-seq
MIRT772207	hsa-miR-378e	CLIP-seq
MIRT772208	hsa-miR-378f	CLIP-seq
MIRT772209	hsa-miR-378h	CLIP-seq
MIRT772210	hsa-miR-378i	CLIP-seq
MIRT772211	hsa-miR-422a	CLIP-seq
MIRT772212	hsa-miR-4294	CLIP-seq
MIRT772213	hsa-miR-433	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT772215	hsa-miR-4454	CLIP-seq
MIRT772216	hsa-miR-4535	CLIP-seq
MIRT772217	hsa-miR-4638-3p	CLIP-seq
MIRT772218	hsa-miR-4766-3p	CLIP-seq
MIRT772219	hsa-miR-4775	CLIP-seq
MIRT772220	hsa-miR-492	CLIP-seq
MIRT772221	hsa-miR-548p	CLIP-seq
MIRT772222	hsa-miR-586	CLIP-seq
MIRT772223	hsa-miR-590-3p	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq
MIRT772196	hsa-miR-122	CLIP-seq
MIRT1927867	hsa-miR-1915	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT1927868	hsa-miR-3199	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT1927869	hsa-miR-4726-3p	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq
MIRT772196	hsa-miR-122	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT1927868	hsa-miR-3199	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT772212	hsa-miR-4294	CLIP-seq
MIRT2168727	hsa-miR-4318	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT2168728	hsa-miR-4438	CLIP-seq
MIRT2168729	hsa-miR-5095	CLIP-seq
MIRT2168730	hsa-miR-518a-5p	CLIP-seq
MIRT2168731	hsa-miR-527	CLIP-seq
MIRT2168732	hsa-miR-548ag	CLIP-seq
MIRT2168733	hsa-miR-548ai	CLIP-seq
MIRT2168734	hsa-miR-548m	CLIP-seq
MIRT2168735	hsa-miR-663b	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq
MIRT772196	hsa-miR-122	CLIP-seq
MIRT2443352	hsa-miR-1323	CLIP-seq
MIRT772197	hsa-miR-139-3p	CLIP-seq
MIRT1927867	hsa-miR-1915	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT2443353	hsa-miR-4271	CLIP-seq
MIRT772212	hsa-miR-4294	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT2443354	hsa-miR-4725-3p	CLIP-seq
MIRT1927869	hsa-miR-4726-3p	CLIP-seq
MIRT2443355	hsa-miR-548a-3p	CLIP-seq
MIRT2443356	hsa-miR-548e	CLIP-seq
MIRT2443357	hsa-miR-548f	CLIP-seq
MIRT2443358	hsa-miR-548o	CLIP-seq
MIRT2443359	hsa-miR-625	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq
MIRT772196	hsa-miR-122	CLIP-seq
MIRT772197	hsa-miR-139-3p	CLIP-seq
MIRT1927867	hsa-miR-1915	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT772212	hsa-miR-4294	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT1927869	hsa-miR-4726-3p	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq
MIRT772196	hsa-miR-122	CLIP-seq
MIRT772197	hsa-miR-139-3p	CLIP-seq
MIRT1927867	hsa-miR-1915	CLIP-seq
MIRT772198	hsa-miR-3135b	CLIP-seq
MIRT772201	hsa-miR-3652	CLIP-seq
MIRT772212	hsa-miR-4294	CLIP-seq
MIRT772214	hsa-miR-4430	CLIP-seq
MIRT1927869	hsa-miR-4726-3p	CLIP-seq
MIRT772224	hsa-miR-720	CLIP-seq

22 Show/Hide all (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
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006643	Process	Membrane lipid metabolic process	IBA
GO:0006643	Process	Membrane lipid metabolic process	IDA	20643956
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0046485	Process	Ether lipid metabolic process	IDA	20643956
GO:0050479	Function	Glyceryl-ether monooxygenase activity	IBA
GO:0050479	Function	Glyceryl-ether monooxygenase activity	IDA	20643956
GO:0050479	Function	Glyceryl-ether monooxygenase activity	IEA
GO:0050479	Function	Glyceryl-ether monooxygenase activity	TAS

MIM	HGNC	e!Ensembl
613738	33784	ENSG00000187546

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
IIWDKIFGTFEAENEKVVYGLTHPINTFEPIKVQFHHLFSIWTTFWATPGFFNKFSVIFK
GPGWGPGKPRLGLSEEIPEVTGKEVPFSSSSSQLLKIYTVVQFALMLAFYEETFADTAAL
SQVTLLLRVCFIILTLTSIGFLLDQRPKAAIMETLRCLMFLMLYRFGHLKPLVPSLSSAF
EIVFSICIAFWGVRSMKQLTSHPWK

Sequence length

445

Interactions

View interactions

Reactome Pathway
Triglyceride biosynthesis

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (27)
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
CATARACT	—	GWAS catalog	36009466	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONCUSSION	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	37106081, 38965376, 39024449, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	26305897	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	37492107	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	38104120	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	40316537	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34586374	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	22399527	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	23776197	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	29210060	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	23776197	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	31417091	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	22399527, 22885922, 28869590, 29358691, 30054458, 30297969, 30595370, 30718926, 31049640, 32514122, 32541925, 34594039, 35551307, 38374256, 38685053, 39024449, 39379762	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (16)
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
Microcephaly	Microcephaly	BEFREE	31555905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31555905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27377425, 28446149	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary microcephaly	Microcephaly	BEFREE	27000257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	31398317		★★★★★ ★☆☆☆☆ Found in Text Mining only

AGMO (alkylglycerol monooxygenase)

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