Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.

Show/Hide all (1)

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

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
			Triglyceride biosynthesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
See cases	Likely pathogenic	rs756729494	RCV001837206

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AGMO-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs28635514, rs144104404, rs772864412, rs190327309, rs1783962073, rs80328842, rs199707904, rs549433708, rs191099541, rs59160822, rs770368536, rs116358801, rs143371620	RCV003984014 RCV003403051 RCV003391505 RCV003911426 RCV003927352 RCV003919520 RCV003914638 RCV003934382 RCV003926964 RCV003976629 RCV003932808 RCV003918508 RCV003920729
AGMO-related Neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs767457600, rs773539256, rs565738776	RCV005867157 RCV002275621 RCV002275622
Cervical cancer	Benign	rs146442781	RCV005922695
Cholangiocarcinoma	Benign	rs146442781	RCV005922696
Familial cancer of breast	Benign	rs146442781	RCV005922694
Hepatocellular carcinoma	Uncertain significance	rs142034204	RCV005937487

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

AGMO (alkylglycerol monooxygenase)