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Aliases for AMER3 Gene

Aliases for AMER3 Gene

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

External Ids for AMER3 Gene

Previous HGNC Symbols for AMER3 Gene

  • FAM123C

Previous GeneCards Identifiers for AMER3 Gene

  • GC02P131514
  • GC02P131538
  • GC02P130805
  • GC02P130815
  • GC02P130841
  • GC02P130871
  • GC02P130883
  • GC02P130908
  • GC02P130926

Summaries for AMER3 Gene

GeneCards Summary for AMER3 Gene

AMER3 (APC Membrane Recruitment Protein 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is AMER1.

UniProtKB/Swiss-Prot 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).

Additional gene information for AMER3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMER3 Gene

Genomics for AMER3 Gene

GeneHancer (GH) Regulatory Elements for AMER3 Gene

Promoters and enhancers for AMER3 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
GH02J130755 Enhancer 0.6 ENCODE 650.7 +0.4 362 0.5 ZFHX2 POLR2A KLF6 GLIS1 ZNF341 SIN3A ZBTB26 EGR2 AMER3 GC02M130768 ENSG00000229797 GC02P130573
GH02J130756 Promoter 0.5 EPDnew 650.7 +0.0 3 0.1 GC02M130768 ENSG00000229797 AMER3 GC02P130573
GH02J130807 Enhancer 1 ENCODE dbSUPER 12 +53.0 52951 2.5 MXI1 CLOCK NFIB JUN MAX EBF1 CEBPG RAD21 CTBP1 POLR2A AMER3 ENSG00000229797 ARHGEF4 CYCSP8 GC02P130573
GH02J130389 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.8 -364.2 -364238 2.8 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 SP5 LOC105373618 PTPN18 FAR2P2 AMER3 CCDC115 PIR36289
GH02J131036 Enhancer 0.4 FANTOM5 dbSUPER 2 +280.8 280817 0.2 ENSG00000284479 TUBA3D ARHGEF4 AMER3 GC02M131046 PIR45687 GC02P130573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMER3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AMER3 Gene

Genomic Locations for AMER3 Gene
chr2:130,755,435-130,768,134
(GRCh38/hg38)
Size:
12,700 bases
Orientation:
Plus strand
chr2:131,513,008-131,525,707
(GRCh37/hg19)

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:
    Q8N944-AMER3_HUMAN
    Recommended name:
    APC membrane recruitment protein 3
    Protein Accession:
    Q8N944
    Secondary Accessions:
    • B7ZLH6

    Protein attributes for AMER3 Gene

    Size:
    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

Other Protein References for AMER3 Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMER3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N944

UniProtKB/Swiss-Prot:

AMER3_HUMAN :
  • Belongs to the Amer family.
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).

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 --
GO:0008013 beta-catenin binding IBA --
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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 AMER3 gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2

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 --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AMER3: view

Pathways & Interactions for AMER3 Gene

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:0048856 anatomical structure development IBA --
GO:0060828 regulation of canonical Wnt signaling pathway IBA --
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

(14) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(5) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMER3 Gene

APC membrane recruitment protein 3:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for AMER3 Gene

GeneLoc Exon Structure for
AMER3
ECgene alternative splicing isoforms for
AMER3

Expression for AMER3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of AMER3 Gene:

AMER3

SOURCE GeneReport for Unigene cluster for AMER3 Gene:

Hs.369289

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

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
chimpanzee
(Pan troglodytes)
Mammalia FAM123C 33
  • 99.03 (n)
AMER3 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMER3 34 33
  • 78.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM123C 33
  • 76.39 (n)
AMER3 34
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amer3 16 34 33
  • 75.01 (n)
rat
(Rattus norvegicus)
Mammalia Amer3 33
  • 74.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMER3 34
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMER3 34
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMER3 34
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMER3 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AMER3 34
  • 20 (a)
OneToOne
Species where no ortholog for AMER3 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMER3 Gene

ENSEMBL:
Gene Tree for AMER3 (if available)
TreeFam:
Gene Tree for AMER3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMER3: view image

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 from dbSNP and Humsavar for AMER3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000059749 -- 130,760,972(+) C/G intron_variant
rs1000126975 -- 130,765,853(+) T/G 3_prime_UTR_variant
rs1000127328 -- 130,753,614(+) C/T upstream_transcript_variant
rs1000128977 -- 130,759,842(+) G/A intron_variant
rs1000148985 -- 130,762,890(+) C/G coding_sequence_variant, missense_variant

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
AMER3

SNP Genotyping and Copy Number Assay Products

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

Disorders for AMER3 Gene

Additional Disease Information for AMER3

No disorders were found for AMER3 Gene.

No data available for MalaCards , 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58

Products for AMER3 Gene

Sources for AMER3 Gene

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