AMER2

APC membrane recruitment protein 2, the group of APC membrane recruitment proteins

Basic information

Region (hg38): 13:25161678-25172288

Previous symbols: [ "FAM123A" ]

Links

ENSG00000165566 ∙ NCBI:219287 ∙ OMIM:614659 ∙ HGNC:26360 ∙ Uniprot:Q8N7J2 ∙ 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 AMER2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMER2 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						0
missense			39			39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	0	0

Variants in AMER2

This is a list of pathogenic ClinVar variants found in the AMER2 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-25169687-G-C		not specified	Uncertain significance (May 16, 2022)
13-25169770-T-C		not specified	Uncertain significance (Aug 04, 2023)
13-25169848-G-A		not specified	Uncertain significance (Dec 18, 2023)
13-25169872-C-T		not specified	Uncertain significance (Mar 06, 2023)
13-25169873-G-A		not specified	Uncertain significance (Dec 21, 2022)
13-25169896-T-C		not specified	Uncertain significance (Aug 02, 2021)
13-25169917-G-A		not specified	Uncertain significance (Aug 12, 2021)
13-25169986-A-G		not specified	Uncertain significance (Sep 30, 2021)
13-25169992-G-A		not specified	Uncertain significance (Oct 04, 2022)
13-25170034-G-A		not specified	Uncertain significance (Aug 19, 2023)
13-25170137-G-A		not specified	Uncertain significance (Jul 21, 2021)
13-25170144-C-A		not specified	Uncertain significance (Jan 29, 2024)
13-25170167-C-T		not specified	Uncertain significance (Dec 17, 2021)
13-25170232-G-T		not specified	Uncertain significance (Jan 04, 2022)
13-25170276-C-A		not specified	Likely benign (May 06, 2024)
13-25170330-C-G		not specified	Uncertain significance (Jun 24, 2022)
13-25170335-C-T		not specified	Uncertain significance (Oct 10, 2023)
13-25170345-C-T		not specified	Uncertain significance (Feb 10, 2022)
13-25170446-C-A		not specified	Uncertain significance (Oct 26, 2022)
13-25170488-G-C		not specified	Uncertain significance (Jan 10, 2023)
13-25170488-G-T		not specified	Uncertain significance (Dec 21, 2022)
13-25170536-T-C		not specified	Uncertain significance (Nov 29, 2021)
13-25170587-C-T		not specified	Uncertain significance (Feb 28, 2023)
13-25170689-C-A		not specified	Uncertain significance (Jun 17, 2024)
13-25170691-G-A		not specified	Uncertain significance (Jul 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AMER2	protein_coding	protein_coding	ENST00000515384	1	10605

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0835	0.908	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	320	385	0.832	0.0000209	4266
Missense in Polyphen		134	165.53	0.80951		1849
Synonymous	0.997	161	178	0.905	0.0000113	1449
Loss of Function	2.28	4	12.8	0.312	6.25e-7	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. {ECO:0000269|PubMed:22128170}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.36

Haploinsufficiency Scores

• pHI: 0.344
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Amer2

Gene ontology

• Biological process: ectoderm development;Wnt signaling pathway;regulation of canonical Wnt signaling pathway;negative regulation of canonical Wnt signaling pathway
• Cellular component: plasma membrane
• Molecular function: protein binding;phosphatidylinositol-4,5-bisphosphate binding;beta-catenin binding