Aliases for AMER3 Gene

Aliases for AMER3 Gene

  • APC Membrane Recruitment Protein 3 2 3 4 5
  • Family With Sequence Similarity 123C 2 3
  • Protein FAM123C 3 4
  • FAM123C 3 4
  • FLJ38377 2
  • AMER3 5
  • Amer3 4

External Ids for AMER3 Gene

Previous HGNC Symbols for AMER3 Gene

  • FAM123C

Previous GeneCards Identifiers for AMER3 Gene

  • GC02P131514
  • GC02P131538
  • GC02P130805
  • GC02P130999
  • GC02P131024
  • GC02P131770
  • GC02P132455
  • GC02P130815
  • GC02P130841
  • GC02P130871
  • GC02P130883
  • GC02P130908
  • GC02P130926
  • GC02P130952
  • GC02P130971
  • GC02P132743
  • GC02P133046

Summaries for AMER3 Gene

GeneCards Summary for AMER3 Gene

AMER3 (APC Membrane Recruitment Protein 3) is a Protein Coding gene. Diseases associated with AMER3 include Esophageal Atresia/Tracheoesophageal Fistula and Tracheoesophageal Fistula With Or Without Esophageal Atresia. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is AMER1.

UniProtKB/Swiss-Prot Summary for AMER3 Gene

  • Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMER3 Gene

Genomics for AMER3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMER3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J130755 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 250.7 +1.7 1702 1.2 ZIC2 REST ZNF341 SIN3A SAP130 GABPB1 EHMT2 SMARCE1 MIER2 GLIS1 AMER3 ENSG00000229797 lnc-CFC1-5 piR-56497-081 HSALNG0018843 ARHGEF4
GH02J130756 Promoter 0.3 EPDnew 250.7 +1.0 963 0.1 AMER3 ENSG00000229797 lnc-CFC1-5 ARHGEF4
GH02J130807 Enhancer 0.9 ENCODE dbSUPER 12 +53.9 53911 2.5 CEBPB MAX EP300 ELF1 CTBP1 RAD21 STAT3 TBP TCF7L2 USF2 AMER3 ENSG00000229797 HSALNG0018844 HSALNG0018848 lnc-ARHGEF4-3 ARHGEF4
GH02J130389 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 3.8 -363.3 -363292 2.8 ZNF600 CEBPA ZIC2 YY1 MXD4 SMAD5 KLF11 ZNF341 KMT2B SP2 HSALNG0018813 PTPN18 FAR2P2 AMER3 CCDC115 LOC105373618 POTEI
GH02J131036 Enhancer 0.4 FANTOM5 dbSUPER 2 +281.8 281777 0.2 HSALNG0018856 SMIM39 TUBA3D ARHGEF4 AMER3 HSALNG0018857 FAM168B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMER3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMER3

Genomic Locations for AMER3 Gene

Latest Assembly
13,660 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
12,595 bases
Plus strand

(GRCh37/hg19 by Ensembl)
12,700 bases
Plus strand

Genomic View for AMER3 Gene

Genes around AMER3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMER3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMER3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMER3 Gene

Proteins for AMER3 Gene

  • Protein details for AMER3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    APC membrane recruitment protein 3
    Protein Accession:
    Secondary Accessions:
    • B7ZLH6

    Protein attributes for AMER3 Gene

    861 amino acids
    Molecular mass:
    90445 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AMER3 Gene

Post-translational modifications for AMER3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AMER3 Gene

Domains & Families for AMER3 Gene

Gene Families for AMER3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AMER3 Gene


Suggested Antigen Peptide Sequences for AMER3 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM123C (F123C_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Amer family.
  • Belongs to the Amer family.
genes like me logo Genes that share domains with AMER3: view

Function for AMER3 Gene

Molecular function for AMER3 Gene

UniProtKB/Swiss-Prot Function:
Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity).

Phenotypes From GWAS Catalog for AMER3 Gene

Gene Ontology (GO) - Molecular Function for AMER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24251807
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0008013 beta-catenin binding IBA 21873635
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with AMER3: view
genes like me logo Genes that share phenotypes with AMER3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMER3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMER3 Gene

Localization for AMER3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMER3 Gene

Cell membrane. Peripheral membrane protein. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2. {ECO:0000250}.

Subcellular locations from

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 AMER3 gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AMER3: view

Pathways & Interactions for AMER3 Gene

PathCards logo

SuperPathways for AMER3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMER3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016055 Wnt signaling pathway IEA --
GO:0060828 regulation of canonical Wnt signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with AMER3: view

No data available for Pathways by source and SIGNOR curated interactions for AMER3 Gene

Drugs & Compounds for AMER3 Gene

No Compound Related Data Available

Transcripts for AMER3 Gene

mRNA/cDNA for AMER3 Gene

12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMER3

Alternative Splicing Database (ASD) splice patterns (SP) for AMER3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d
SP1: - - -
SP2: - -

Relevant External Links for AMER3 Gene

GeneLoc Exon Structure for

Expression for AMER3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMER3 Gene

mRNA differential expression in normal tissues according to GTEx for AMER3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.5), Brain - Cerebellum (x9.4), Brain - Cortex (x5.3), and Brain - Frontal Cortex (BA9) (x4.9).

Protein differential expression in normal tissues from HIPED for AMER3 Gene

This gene is overexpressed in Fetal heart (55.9) and Adipocyte (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMER3 Gene

Protein tissue co-expression partners for AMER3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMER3

SOURCE GeneReport for Unigene cluster for AMER3 Gene:


Evidence on tissue expression from TISSUES for AMER3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with AMER3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMER3 Gene

Orthologs for AMER3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMER3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM123C 29
  • 99.03 (n)
AMER3 30
  • 99 (a)
(Canis familiaris)
Mammalia AMER3 29 30
  • 78.08 (n)
(Bos Taurus)
Mammalia FAM123C 29
  • 76.39 (n)
AMER3 30
  • 67 (a)
(Mus musculus)
Mammalia Amer3 29 16 30
  • 75.01 (n)
(Rattus norvegicus)
Mammalia Amer3 29
  • 74.58 (n)
(Ornithorhynchus anatinus)
Mammalia AMER3 30
  • 54 (a)
(Monodelphis domestica)
Mammalia AMER3 30
  • 41 (a)
(Gallus gallus)
Aves AMER3 30
  • 29 (a)
(Anolis carolinensis)
Reptilia AMER3 30
  • 49 (a)
(Danio rerio)
Actinopterygii AMER3 30
  • 20 (a)
Species where no ortholog for AMER3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AMER3 Gene

Gene Tree for AMER3 (if available)
Gene Tree for AMER3 (if available)
Evolutionary constrained regions (ECRs) for AMER3: view image
Alliance of Genome Resources:
Additional Orthologs for AMER3

Paralogs for AMER3 Gene

Paralogs for AMER3 Gene

genes like me logo Genes that share paralogs with AMER3: view

Variants for AMER3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMER3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
916554 Likely Pathogenic: Tracheoesophageal fistula 130,764,308(+) C/T
NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter)
rs1905235 -- p.Ser340Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AMER3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AMER3 Gene

Variant ID Type Subtype PubMed ID
dgv2032n106 OTHER inversion 24896259
dgv4074n100 CNV gain 25217958
dgv4075n100 CNV gain 25217958
dgv616e201 CNV deletion 23290073
dgv731e199 CNV deletion 23128226
esv2670824 CNV deletion 23128226
esv2759092 CNV gain+loss 17122850
esv2760576 CNV gain+loss 21179565
esv3893337 CNV loss 25118596
nsv1014723 CNV loss 25217958
nsv10175 CNV loss 18304495
nsv1147463 OTHER inversion 26484159
nsv428403 CNV loss 18775914
nsv524021 CNV loss 19592680
nsv583135 CNV loss 21841781
nsv583136 CNV loss 21841781
nsv7327 OTHER inversion 18451855

Variation tolerance for AMER3 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMER3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMER3 Gene

Disorders for AMER3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AMER3 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
esophageal atresia/tracheoesophageal fistula
  • esophageal atresia and/or tracheoesophageal fistula
tracheoesophageal fistula with or without esophageal atresia
  • esophageal atresia with or without tracheoesophageal fistula
osteopathia striata with cranial sclerosis
  • oscs
- elite association - COSMIC cancer census association via MalaCards
Search AMER3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMER3

genes like me logo Genes that share disorders with AMER3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMER3 Gene

Publications for AMER3 Gene

  1. The WTX/AMER1 gene family: evolution, signature and function. (PMID: 20843316) Boutet A … Schedl A (BMC evolutionary biology 2010) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. (PMID: 32641753) Wang J … Chung WK (European journal of human genetics : EJHG 2021) 72
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
  5. Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signalling. (PMID: 24251807) Brauburger K … Behrens J (The FEBS journal 2014) 3

Products for AMER3 Gene

Sources for AMER3 Gene