Aliases for AMER2 Gene

Aliases for AMER2 Gene

  • APC Membrane Recruitment Protein 2 2 3 4 5
  • Family With Sequence Similarity 123A 2 3
  • Protein FAM123A 3 4
  • FAM123A 3 4
  • Amer2 4

External Ids for AMER2 Gene

Previous HGNC Symbols for AMER2 Gene

  • FAM123A

Previous GeneCards Identifiers for AMER2 Gene

  • GC13M025736

Summaries for AMER2 Gene

GeneCards Summary for AMER2 Gene

AMER2 (APC Membrane Recruitment Protein 2) is a Protein Coding gene. Diseases associated with AMER2 include Osteopathia Striata With Cranial Sclerosis. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is AMER1.

UniProtKB/Swiss-Prot Summary for AMER2 Gene

  • 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.

Additional gene information for AMER2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMER2 Gene

Genomics for AMER2 Gene

GeneHancer (GH) Regulatory Elements for AMER2 Gene

Promoters and enhancers for AMER2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J025171 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.1 1123 1.6 EP300 ZIC2 ZBTB26 RFX1 EZH2 SMC3 ZBTB17 REST MXI1 ZFHX2 AMER2 LINC01053
GH13J025173 Enhancer 0.4 dbSUPER 500.7 -1.7 -1693 0.5 ZNF629 SUZ12 CREB1 AMER2 LINC00463 LINC01053
GH13J025115 Enhancer 0.8 FANTOM5 ENCODE 50.2 +55.6 55564 2.5 ZNF217 ZFX CTBP1 MYC ZNF592 NEUROD1 FOXA1 DPF2 GATA3 TCF7L2 lnc-PABPC3-1 AMER2 LINC01053 LINC00463 LOC105370120 piR-50444-097
GH13J025136 Enhancer 0.6 ENCODE dbSUPER 19.6 +35.1 35111 1.9 HDAC2 YY1 NANOG FOXP2 POU5F1 AMER2 LINC01053 LINC00463 piR-50444-097 lnc-PABPC3-1
GH13J025113 Enhancer 0.8 Ensembl ENCODE 11 +57.8 57761 1.5 CTCF REST KLF4 RAD21 TRIM22 SMC3 TCF12 TARDBP FOXA1 MYC lnc-PABPC3-1 AMER2 LINC01053 LINC00463 LOC105370120 PABPC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMER2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMER2

Genomic Locations for AMER2 Gene

Genomic Locations for AMER2 Gene
chr13:25,161,679-25,172,324
(GRCh38/hg38)
Size:
10,646 bases
Orientation:
Minus strand
chr13:25,735,822-25,746,426
(GRCh37/hg19)
Size:
10,605 bases
Orientation:
Minus strand

Genomic View for AMER2 Gene

Genes around AMER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMER2 Gene

Proteins for AMER2 Gene

  • Protein details for AMER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7J2-AMER2_HUMAN
    Recommended name:
    APC membrane recruitment protein 2
    Protein Accession:
    Q8N7J2
    Secondary Accessions:
    • Q5RL80
    • Q5VX56
    • Q8N593
    • Q96NN5

    Protein attributes for AMER2 Gene

    Size:
    671 amino acids
    Molecular mass:
    69507 Da
    Quaternary structure:
    • Interacts with APC.
    SequenceCaution:
    • Sequence=AAH32653.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH41392.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC05288.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AMER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMER2 Gene

Post-translational modifications for AMER2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMER2 Gene

No data available for DME Specific Peptides for AMER2 Gene

Domains & Families for AMER2 Gene

Gene Families for AMER2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AMER2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMER2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM123A (F123A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N7J2

UniProtKB/Swiss-Prot:

AMER2_HUMAN :
  • Belongs to the Amer family.
Family:
  • Belongs to the Amer family.
genes like me logo Genes that share domains with AMER2: view

Function for AMER2 Gene

Molecular function for AMER2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for AMER2 Gene

Gene Ontology (GO) - Molecular Function for AMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22128170
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 22128170
GO:0008013 beta-catenin binding IBA 21873635
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with AMER2: view
genes like me logo Genes that share phenotypes with AMER2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMER2 Gene

Localization for AMER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMER2 Gene

Cell membrane; Peripheral membrane protein. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMER2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IBA 22128170
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AMER2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AMER2 Gene

Pathways & Interactions for AMER2 Gene

PathCards logo

SuperPathways for AMER2 Gene

No Data Available

Interacting Proteins for AMER2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000426528 Q8N7J2-AMER2_HUMAN for AMER2 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for AMER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007398 ectoderm development ISS --
GO:0016055 Wnt signaling pathway IEA --
GO:0060828 regulation of canonical Wnt signaling pathway IBA 21873635
GO:0090090 negative regulation of canonical Wnt signaling pathway IMP 22128170
genes like me logo Genes that share ontologies with AMER2: view

No data available for Pathways by source and SIGNOR curated interactions for AMER2 Gene

Drugs & Compounds for AMER2 Gene

No Compound Related Data Available

Transcripts for AMER2 Gene

mRNA/cDNA for AMER2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMER2 Gene

No ASD Table

Relevant External Links for AMER2 Gene

GeneLoc Exon Structure for
AMER2

Expression for AMER2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMER2 Gene

This gene is overexpressed in Brain - Hippocampus (x5.5), Brain - Spinal cord (cervical c-1) (x4.9), Brain - Amygdala (x4.9), Brain - Putamen (basal ganglia) (x4.8), Brain - Caudate (basal ganglia) (x4.7), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for AMER2 Gene

This gene is overexpressed in Liver (24.0), Frontal cortex (13.2), Fetal Brain (12.7), and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMER2 Gene



Protein tissue co-expression partners for AMER2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMER2

SOURCE GeneReport for Unigene cluster for AMER2 Gene:

Hs.528335

Evidence on tissue expression from TISSUES for AMER2 Gene

  • Nervous system(4.7)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with AMER2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMER2 Gene

Orthologs for AMER2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMER2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM123A 30
  • 99.46 (n)
AMER2 31
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amer2 30
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Amer2 17 31 30
  • 84.16 (n)
dog
(Canis familiaris)
Mammalia AMER2 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMER2 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM123A 30
  • 69.03 (n)
AMER2 31
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMER2 31
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amer2 30
  • 57.96 (n)
Str.15475 30
zebrafish
(Danio rerio)
Actinopterygii amer2 31 30
  • 51.24 (n)
OneToOne
Species where no ortholog for AMER2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMER2 Gene

ENSEMBL:
Gene Tree for AMER2 (if available)
TreeFam:
Gene Tree for AMER2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMER2: view image

Paralogs for AMER2 Gene

Paralogs for AMER2 Gene

genes like me logo Genes that share paralogs with AMER2: view

Variants for AMER2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMER2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
VAR_036448 A colorectal cancer sample p.Ala457Thr
rs2282406 - p.Ile659Met

Additional dbSNP identifiers (rs#s) for AMER2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AMER2 Gene

Variant ID Type Subtype PubMed ID
esv2747161 CNV deletion 23290073
esv3582237 CNV gain 25503493
nsv1047876 CNV gain 25217958
nsv435952 OTHER inversion 17901297
nsv826593 CNV loss 20364138
nsv826594 CNV gain 20364138
nsv976097 CNV duplication 23825009

Variation tolerance for AMER2 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.55; 64.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMER2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMER2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMER2 Gene

Disorders for AMER2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AMER2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteopathia striata with cranial sclerosis
  • oscs
- elite association - COSMIC cancer census association via MalaCards
Search AMER2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMER2

genes like me logo Genes that share disorders with AMER2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMER2 Gene

Publications for AMER2 Gene

  1. The WTX/AMER1 gene family: evolution, signature and function. (PMID: 20843316) Boutet A … Schedl A (BMC evolutionary biology 2010) 2 3 4 54
  2. Amer2 protein is a novel negative regulator of Wnt/β-catenin signaling involved in neuroectodermal patterning. (PMID: 22128170) Pfister AS … Behrens J (The Journal of biological chemistry 2012) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 54

Products for AMER2 Gene

Sources for AMER2 Gene