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	154796
Gene name	Angiomotin
Gene symbol	AMOT
Synonyms (NCBI Gene)	-
Chromosome	X
Chromosome location	Xq23
Summary	This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger ve

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SNP ID	Visualize variation	Clinical significance	Consequence
rs869312862	C>G	Likely-pathogenic	Missense variant, coding sequence variant

197

Show/Hide all (197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019601	hsa-miR-340-5p	Sequencing	20371350
MIRT051168	hsa-miR-16-5p	CLASH	23622248
MIRT046949	hsa-miR-221-3p	CLASH	23622248
MIRT549393	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT549392	hsa-miR-107	PAR-CLIP	21572407
MIRT549391	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT549390	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549389	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT549388	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT051168	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT549387	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT549386	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT549385	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549384	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT549383	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT549382	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT549381	hsa-miR-4310	PAR-CLIP	21572407
MIRT549380	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT549379	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT549378	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT549377	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT549376	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT549375	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT559603	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT549393	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT549392	hsa-miR-107	PAR-CLIP	21572407
MIRT549391	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT549390	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549389	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT549388	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT051168	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT549387	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT549386	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT549385	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549384	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT549383	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT549382	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT549381	hsa-miR-4310	PAR-CLIP	21572407
MIRT549380	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT549379	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT549378	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT549377	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT549376	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT549375	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT549386	hsa-miR-497-5p	Luciferase reporter assayWestern blot	26855583
MIRT549386	hsa-miR-497-5p	Luciferase reporter assayWestern blot	26855583
MIRT549388	hsa-miR-15b-5p	MicroarrayqRT-PCRFlow cytometry	32661467
MIRT549393	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT549392	hsa-miR-107	PAR-CLIP	21572407
MIRT549391	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT549390	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549389	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT549388	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT051168	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT549387	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT549386	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT549385	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549384	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT549383	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT549382	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT549381	hsa-miR-4310	PAR-CLIP	21572407
MIRT549380	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT549379	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT549378	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT549377	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT549376	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT549375	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT559603	hsa-miR-127-5p	PAR-CLIP	21572407
MIRT549393	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT549392	hsa-miR-107	PAR-CLIP	21572407
MIRT549391	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT549390	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549389	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT549388	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT051168	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT549387	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT549386	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT549385	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549384	hsa-miR-548e-5p	PAR-CLIP	21572407
MIRT549383	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT549382	hsa-miR-500a-5p	PAR-CLIP	21572407
MIRT549381	hsa-miR-4310	PAR-CLIP	21572407
MIRT549380	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT549379	hsa-miR-371b-5p	PAR-CLIP	21572407
MIRT549378	hsa-miR-373-5p	PAR-CLIP	21572407
MIRT549377	hsa-miR-616-5p	PAR-CLIP	21572407
MIRT549376	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT549375	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT549393	hsa-miR-205-5p	Luciferase reporter assayWestern blottingqRT-PCRin vitro cullelar assays	37545216
MIRT780317	hsa-miR-1284	CLIP-seq
MIRT780318	hsa-miR-182	CLIP-seq
MIRT780319	hsa-miR-29a	CLIP-seq
MIRT780320	hsa-miR-29b	CLIP-seq
MIRT780321	hsa-miR-29c	CLIP-seq
MIRT780322	hsa-miR-300	CLIP-seq
MIRT780323	hsa-miR-381	CLIP-seq
MIRT780324	hsa-miR-448	CLIP-seq
MIRT780325	hsa-miR-450b-5p	CLIP-seq
MIRT780326	hsa-miR-4666-3p	CLIP-seq
MIRT780327	hsa-miR-509-3p	CLIP-seq
MIRT780328	hsa-miR-518a-5p	CLIP-seq
MIRT780329	hsa-miR-527	CLIP-seq
MIRT780330	hsa-miR-802	CLIP-seq
MIRT780331	hsa-miR-2355-5p	CLIP-seq
MIRT780332	hsa-miR-3129-3p	CLIP-seq
MIRT780333	hsa-miR-3182	CLIP-seq
MIRT780334	hsa-miR-3183	CLIP-seq
MIRT780335	hsa-miR-3617	CLIP-seq
MIRT780336	hsa-miR-3647-3p	CLIP-seq
MIRT780337	hsa-miR-3659	CLIP-seq
MIRT780338	hsa-miR-3679-3p	CLIP-seq
MIRT780339	hsa-miR-4263	CLIP-seq
MIRT780340	hsa-miR-4279	CLIP-seq
MIRT780341	hsa-miR-432	CLIP-seq
MIRT780342	hsa-miR-4511	CLIP-seq
MIRT780343	hsa-miR-4528	CLIP-seq
MIRT780344	hsa-miR-4658	CLIP-seq
MIRT780345	hsa-miR-4723-3p	CLIP-seq
MIRT780346	hsa-miR-4733-5p	CLIP-seq
MIRT780347	hsa-miR-4758-5p	CLIP-seq
MIRT780348	hsa-miR-4777-3p	CLIP-seq
MIRT780349	hsa-miR-4778-3p	CLIP-seq
MIRT780350	hsa-miR-544	CLIP-seq
MIRT780351	hsa-miR-574-5p	CLIP-seq
MIRT780352	hsa-miR-576-5p	CLIP-seq
MIRT780353	hsa-miR-641	CLIP-seq
MIRT780354	hsa-miR-642a	CLIP-seq
MIRT1545331	hsa-miR-151-3p	CLIP-seq
MIRT1545332	hsa-miR-23a	CLIP-seq
MIRT1545333	hsa-miR-23b	CLIP-seq
MIRT1545334	hsa-miR-23c	CLIP-seq
MIRT1545335	hsa-miR-3121-3p	CLIP-seq
MIRT1545336	hsa-miR-4463	CLIP-seq
MIRT1545337	hsa-miR-4499	CLIP-seq
MIRT1545338	hsa-miR-4694-5p	CLIP-seq
MIRT1545339	hsa-miR-4717-3p	CLIP-seq
MIRT1930244	hsa-miR-1179	CLIP-seq
MIRT1930245	hsa-miR-1185	CLIP-seq
MIRT1930246	hsa-miR-1206	CLIP-seq
MIRT1930247	hsa-miR-1224-5p	CLIP-seq
MIRT1545331	hsa-miR-151-3p	CLIP-seq
MIRT1930248	hsa-miR-203	CLIP-seq
MIRT1545332	hsa-miR-23a	CLIP-seq
MIRT1545333	hsa-miR-23b	CLIP-seq
MIRT1545334	hsa-miR-23c	CLIP-seq
MIRT1545335	hsa-miR-3121-3p	CLIP-seq
MIRT1930249	hsa-miR-3160-5p	CLIP-seq
MIRT1930250	hsa-miR-329	CLIP-seq
MIRT1930251	hsa-miR-330-3p	CLIP-seq
MIRT1930252	hsa-miR-3605-5p	CLIP-seq
MIRT1930253	hsa-miR-362-3p	CLIP-seq
MIRT1930254	hsa-miR-3646	CLIP-seq
MIRT1930255	hsa-miR-3679-5p	CLIP-seq
MIRT1930256	hsa-miR-3915	CLIP-seq
MIRT1930257	hsa-miR-3925-3p	CLIP-seq
MIRT1930258	hsa-miR-3941	CLIP-seq
MIRT1930259	hsa-miR-4267	CLIP-seq
MIRT1930260	hsa-miR-4269	CLIP-seq
MIRT1930261	hsa-miR-4422	CLIP-seq
MIRT1545336	hsa-miR-4463	CLIP-seq
MIRT1545337	hsa-miR-4499	CLIP-seq
MIRT1930262	hsa-miR-4662a-3p	CLIP-seq
MIRT1930263	hsa-miR-4689	CLIP-seq
MIRT1545338	hsa-miR-4694-5p	CLIP-seq
MIRT1930264	hsa-miR-4714-3p	CLIP-seq
MIRT1545339	hsa-miR-4717-3p	CLIP-seq
MIRT1930265	hsa-miR-515-5p	CLIP-seq
MIRT1930266	hsa-miR-544b	CLIP-seq
MIRT1930267	hsa-miR-603	CLIP-seq
MIRT1930268	hsa-miR-649	CLIP-seq
MIRT1930269	hsa-miR-676	CLIP-seq
MIRT1930270	hsa-miR-766	CLIP-seq
MIRT780330	hsa-miR-802	CLIP-seq
MIRT2170942	hsa-miR-1303	CLIP-seq
MIRT1930248	hsa-miR-203	CLIP-seq
MIRT2170943	hsa-miR-2278	CLIP-seq
MIRT2170944	hsa-miR-3920	CLIP-seq
MIRT2170945	hsa-miR-4762-3p	CLIP-seq
MIRT1930267	hsa-miR-603	CLIP-seq
MIRT1930247	hsa-miR-1224-5p	CLIP-seq
MIRT1545331	hsa-miR-151-3p	CLIP-seq
MIRT1545332	hsa-miR-23a	CLIP-seq
MIRT1545333	hsa-miR-23b	CLIP-seq
MIRT1545334	hsa-miR-23c	CLIP-seq
MIRT2384129	hsa-miR-3065-5p	CLIP-seq
MIRT1545335	hsa-miR-3121-3p	CLIP-seq
MIRT1930259	hsa-miR-4267	CLIP-seq
MIRT1545336	hsa-miR-4463	CLIP-seq
MIRT1545337	hsa-miR-4499	CLIP-seq
MIRT1545338	hsa-miR-4694-5p	CLIP-seq
MIRT1545339	hsa-miR-4717-3p	CLIP-seq
MIRT2384130	hsa-miR-4751	CLIP-seq
MIRT2384131	hsa-miR-4759	CLIP-seq
MIRT2473643	hsa-miR-3121-5p	CLIP-seq
MIRT2473644	hsa-miR-3667-3p	CLIP-seq
MIRT2473645	hsa-miR-4724-3p	CLIP-seq
MIRT2473646	hsa-miR-570	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21205866
GO:0001525	Process	Angiogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001725	Component	Stress fiber	IDA	16043488
GO:0001726	Component	Ruffle	IDA	11257124
GO:0003365	Process	Establishment of cell polarity involved in ameboidal cell migration	IBA
GO:0003365	Process	Establishment of cell polarity involved in ameboidal cell migration	IEA
GO:0005515	Function	Protein binding	IPI	11257124, 16043488, 19615732, 21187284, 21205866, 21481793, 23414517, 24366813, 24981860, 25026211, 25416956, 25556234, 30561431, 31515488, 33961781, 36217029
GO:0005737	Component	Cytoplasm	IDA	16043488
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IDA	11257124
GO:0005886	Component	Plasma membrane	IBA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	16043488
GO:0005923	Component	Bicellular tight junction	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0007043	Process	Cell-cell junction assembly	TAS	16043488
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0009897	Component	External side of plasma membrane	IDA	11257124
GO:0009986	Component	Cell surface	IDA	16043488
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IDA	16043488
GO:0016525	Process	Negative regulation of angiogenesis	IDA	11257124
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	11257124
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	16043488
GO:0030139	Component	Endocytic vesicle	IDA	11257124
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030334	Process	Regulation of cell migration	IDA	11257124
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035329	Process	Hippo signaling	IBA
GO:0035329	Process	Hippo signaling	IGI	21205866
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	IDA	11257124
GO:0040019	Process	Positive regulation of embryonic development	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0043116	Process	Negative regulation of vascular permeability	IDA	16043488
GO:0043532	Function	Angiostatin binding	IDA	11257124, 16043488
GO:0043534	Process	Blood vessel endothelial cell migration	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	16043488
GO:0045793	Process	Positive regulation of cell size	TAS	16043488
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	TAS	16043488
GO:0070161	Component	Anchoring junction	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1905274	Process	Regulation of modification of postsynaptic actin cytoskeleton	IEA

MIM	HGNC	e!Ensembl
300410	17810	ENSG00000126016

Q4VCS5

Protein name

Angiomotin

Protein function

Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also pla

PDB

6JJX , 7LP2 , 7LP3 , 7LP5 , 7NMA , 7NMW , 7NMX , 7NN2 , 7NND , 7NNE , 7NP2 , 7NPB , 7NPG , 7OQG , 7OQJ , 7OQS , 7OQU , 7OQW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12240	Angiomotin_C	599 → 806	Angiomotin C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta and skeletal muscle. Found in the endothelial cells of capillaries as well as larger vessels of the placenta. {ECO:0000269|PubMed:11257124}.

Sequence

MRNSEEQPSGGTTVLQRLLQEQLRYGNPSENRSLLAIHQQATGNGPPFPSGSGNPGPQSD
VLSPQDHHQQLVAHAARQEPQGQEIQSENLIMEKQLSPRMQNNEELPTYEEAKVQSQYFR
GQQHASVGAAFYVTGVTNQKMRTEGRPSVQRLNPGKMHQDEGLRDLKQGHVRSLSERLMQ
MSLATSGVKAHPPVTSAPLSPPQPNDLYKNPTSSSEFYKAQGPLPNQHSLKGMEHRGPPP
EYPFKGMPPQSVVCKPQEPGHFYSEHRLNQPGRTEGQLMRYQHPPEYGAARPAQDISLPL
SARNSQPHSPTSSLTSGGSLPLLQSPPSTRLSPARHPLVPNQGDHSAHLPRPQQHFLPNQ
AHQGDHYRLSQPGLSQQQQQQQQQHHHHHHHQQQQQQQPQQQPGEAYSAMPRAQPSSASY
QPVPADPFAIVSRAQQMVEILSDENRNLRQELEGCYEKVARLQKVETEIQRVSEAYENLV
KSSSKREALEKAMRNKLEGEIRRMHDFNRDLRERLETANKQLAEKEYEGSEDTRKTISQL
FAKNKESQREKEKLEAELATARSTNEDQRRHIEIRDQALSNAQAKVVKLEEELKKKQVYV
DKVEKMQQALVQLQAACEKREQLEHRLRTRLERELESLRIQQRQGNCQPTNVSEYNAAAL
MELLREKEERILALEADMTKWEQKYLEENVMRHFALDAAATVAAQRDTTVISHSPNTSYD
TALEARIQKEEEEILMANKRCLDMEGRIKTLHAQIIEKDAMIKVLQQRSRKEPSKTEQLS
CMRPAKSLMSISNAGSGLLSHSSTLTGSPIMEEKRDDKSWKGSLGILLGGDYRAEYVPST
PSPVPPSTPLLSAHSKTGSRDCSTQTERGTESNKTAAVAPISVPAPVAAAATAAAITATA
ATITTTMVAAAPVAVAAAAAPAAAAAPSPATAAATAAAVSPAAAGQIPAAASVASAAAVA
PSAAAAAAVQVAPAAPAPVPAPALVPVPAPAAAQASAPAQTQAPTSAPAVAPTPAPTPTP
AVAQAEVPASPATGPGPHRLSIPSLTCNPDKTDGPVFHSNTLERKTPIQILGQEPDAEMV
EYLI

Sequence length

1084

Interactions

View interactions

	KEGG		Reactome
	Hippo signaling pathway Tight junction		Signaling by Hippo

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs869312862	RCV000210410

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs200348859	RCV005931200
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs200348859	RCV005931201

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	29346075
Breast Neoplasms	Associate	16430777, 21285250, 29377471
Calcinosis Cutis	Associate	16430777
Carcinoma Renal Cell	Associate	26848622
Cholangiocarcinoma	Associate	34182814
Chordoma	Associate	38012562
Diabetic Retinopathy	Associate	32319024
Disorders of Excessive Somnolence	Associate	28520763
Endometrial Neoplasms	Associate	28071680
Glycosuria Renal	Associate	26848622
Intervertebral Disc Degeneration	Associate	33764282
Kidney Diseases	Associate	28520763
Lymphoma Follicular	Stimulate	16430777
Lymphoma Large B Cell Diffuse	Inhibit	33414519
Neoplasms	Stimulate	21285250
Neoplasms	Associate	26045165, 26486328, 27144834, 33414519, 34182814
Neoplasms Glandular and Epithelial	Associate	26848622
Osteosarcoma	Associate	26486328
Sleep Apnea Obstructive	Associate	28520763
Vision Disorders	Associate	26350515

AMOT (angiomotin)