AMOTL2

angiomotin like 2, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 3:134355347-134375479

Links

ENSG00000114019 ∙ NCBI:51421 ∙ OMIM:614658 ∙ HGNC:17812 ∙ Uniprot:Q9Y2J4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AMOTL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMOTL2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			59	1	2	62
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	60	1	3

Variants in AMOTL2

This is a list of pathogenic ClinVar variants found in the AMOTL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-134358611-G-A		not specified	Uncertain significance (Dec 01, 2022)
3-134358620-G-T		not specified	Uncertain significance (Jun 24, 2022)
3-134358632-G-A		not specified	Uncertain significance (Dec 13, 2023)
3-134358683-G-C		not specified	Uncertain significance (Jun 02, 2023)
3-134358714-T-C		not specified	Uncertain significance (May 18, 2022)
3-134359418-C-A		not specified	Uncertain significance (Jul 14, 2021)
3-134359436-T-C		not specified	Uncertain significance (Feb 23, 2023)
3-134360154-T-C		not specified	Uncertain significance (Oct 25, 2022)
3-134360169-G-A		not specified	Uncertain significance (Oct 10, 2023)
3-134360177-C-G		not specified	Uncertain significance (Feb 16, 2023)
3-134360186-A-C		not specified	Uncertain significance (Jun 18, 2021)
3-134360209-G-A		not specified	Uncertain significance (Apr 12, 2022)
3-134360224-T-C		not specified	Uncertain significance (Jun 30, 2022)
3-134360259-C-T		not specified	Uncertain significance (Jun 06, 2023)
3-134360323-CCTT-C			Uncertain significance (May 01, 2022)
3-134360331-C-T		not specified	Uncertain significance (Jun 30, 2022)
3-134360332-G-C		not specified	Uncertain significance (Nov 27, 2023)
3-134360349-C-T		not specified	Uncertain significance (Oct 26, 2021)
3-134360352-A-G		not specified	Uncertain significance (May 17, 2023)
3-134360356-C-A		not specified	Uncertain significance (Dec 21, 2022)
3-134361528-G-A			Benign (Dec 31, 2019)
3-134361612-G-A		not specified	Uncertain significance (Jul 13, 2022)
3-134361658-G-A		not specified	Uncertain significance (Jan 12, 2024)
3-134361670-C-G		not specified	Uncertain significance (Jul 07, 2022)
3-134361673-C-A		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMOTL2	protein_coding	protein_coding	ENST00000249883	9	19606

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.155	0.845	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0754	483	488	0.990	0.0000314	4978
Missense in Polyphen		204	246.6	0.82725		2533
Synonymous	0.347	197	203	0.969	0.0000124	1670
Loss of Function	4.24	9	36.7	0.245	0.00000220	338

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000948	0.0000924
European (Non-Finnish)	0.000144	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC. {ECO:0000269|PubMed:17293535, ECO:0000269|PubMed:21937427, ECO:0000269|PubMed:22362771}.
• Pathway: Tight junction - Homo sapiens (human);Signal Transduction;Signaling by Hippo (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.467
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.72

Haploinsufficiency Scores

• pHI: 0.0812
• hipred: Y
• hipred_score: 0.544
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.922

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Amotl2
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: amotl2b
• Affected structure: dorsal longitudinal anastomotic vessel
• Phenotype tag: abnormal
• Phenotype quality: closed

Gene ontology

• Biological process: angiogenesis;establishment of cell polarity involved in ameboidal cell migration;Wnt signaling pathway;actin cytoskeleton organization;regulation of cell migration;hippo signaling
• Cellular component: cytosol;bicellular tight junction;apical plasma membrane;cytoplasmic vesicle;recycling endosome
• Molecular function: protein binding;identical protein binding