Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs869312862 C>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300410 17810 ENSG00000126016
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
CMRPAKSLMSISNAGSGLLSHSSTLT
GSPIMEEKRDDKSWKGSLGILLGGDYRAEYVPST
PSPVPPSTPLLSAHSKTGSRDCSTQTERGTESNKTAAVAPISVPAPVAAAATAAAITATA
ATITTTMVAAAPVAVAAAAAPAAAAAPSPATAAATAAAVSPAAAGQIPAAASVASAAAVA
PSAAAAAAVQVAPAAPAPVPAPALVPVPAPAAAQASAPAQTQAPTSAPAVAPTPAPTPTP
AVAQAEVPASPATGPGPHRLSIPSLTCNPDKTDGPVFHSNTLERKTPIQILGQEPDAEMV
EYLI
Sequence length 1084
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hippo signaling pathway
Tight junction
  Signaling by Hippo
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral visual impairment and intellectual disability Likely pathogenic rs869312862 RCV000210410
★★★★☆
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
BRAIN NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27980054
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27875740
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 27875740
★☆☆☆☆
Found in Text Mining only
Benign neoplasm of brain, unspecified Brain Neoplasms CTD_human_DG 27935819
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms CTD_human_DG 27935819
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Tumor, Primary Brain Neoplasms CTD_human_DG 27935819
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16430777, 16754857, 25647626, 26239614, 30792381
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16430777, 21285250, 29377471 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25381822
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26848622 Associate
★☆☆☆☆
Found in Text Mining only