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Aliases for APC2 Gene

Aliases for APC2 Gene

  • APC2, WNT Signaling Pathway Regulator 2 3 5
  • Adenomatous Polyposis Coli Like 2 3
  • Adenomatosis Polyposis Coli 2 2 3
  • APCL 3 4
  • Adenomatous Polyposis Coli Protein-Like 4
  • Adenomatous Polyposis Coli Protein 2 3
  • APC-Like 4
  • SOTOS3 3

External Ids for APC2 Gene

Previous GeneCards Identifiers for APC2 Gene

  • GC09U990134
  • GC19P001403
  • GC19P001397
  • GC19P001224

Summaries for APC2 Gene

GeneCards Summary for APC2 Gene

APC2 (APC2, WNT Signaling Pathway Regulator) is a Protein Coding gene. Diseases associated with APC2 include Sotos Syndrome 1 and Adenomatous Polyposis Coli. Among its related pathways are HTLV-I infection and Wnt Signaling Pathway and Pluripotency. GO annotations related to this gene include binding and beta-catenin binding. An important paralog of this gene is APC.

UniProtKB/Swiss-Prot for APC2 Gene

  • Promotes rapid degradation of CTNNB1 and may function as a tumor suppressor. May function in Wnt signaling.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APC2 Gene

Genomics for APC2 Gene

Regulatory Elements for APC2 Gene

Enhancers for APC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F001442 1.4 FANTOM5 ENCODE 24.2 -2.0 -1967 3.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 APC2 ENSG00000266990 RNA5SP462 C19orf24 C19orf25 PCSK4 REEP6 SCAMP4 MUM1 CBARP
GH19F001452 1.5 FANTOM5 Ensembl ENCODE 14.3 +7.4 7357 1.5 GLI4 THRB ZNF335 GLIS2 EGR2 ZNF263 SP3 ZNF280D ZEB2 ZFP69B APC2 MUM1 CBARP ENSG00000267317
GH19F000479 1.3 Ensembl ENCODE 9.8 -966.0 -965983 0.8 HDGF ATF1 PKNOX1 ARNT ZNF133 ARID4B SIN3A YBX1 ZNF2 ZNF48 TMEM259 CFD MIER2 RPS15 CIRBP MIDN APC2 PLPPR3 ENSG00000267317 MADCAM1
GH19F001454 1.2 Ensembl ENCODE 8.1 +9.9 9946 3.1 HDGF PKNOX1 ZNF2 GLIS2 SCRT2 EGR2 SP3 ELF1 SP1 SMARCA4 APC2 MED16 ENSG00000267317
GH19F001725 1.5 FANTOM5 Ensembl ENCODE 6.3 +279.6 279575 1.3 ELF3 ZNF133 ZFP64 DEAF1 ARID4B ZNF48 ZBTB40 KAT2B ZNF335 ZNF121 ONECUT3 ATP8B3 MIR1909 REXO1 RNU6-1223P TCF3 APC2 MUM1 CBARP ENSG00000275642
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APC2 on UCSC Golden Path with GeneCards custom track

Promoters for APC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000341525 -668 1601 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS KLF13 ZNF263

Genomic Location for APC2 Gene

Chromosome:
19
Start:
1,446,268 bp from pter
End:
1,473,244 bp from pter
Size:
26,977 bases
Orientation:
Plus strand

Genomic View for APC2 Gene

Genes around APC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APC2 Gene

Proteins for APC2 Gene

  • Protein details for APC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95996-APC2_HUMAN
    Recommended name:
    Adenomatous polyposis coli protein 2
    Protein Accession:
    O95996
    Secondary Accessions:
    • Q05BW4
    • Q9UBZ1
    • Q9UEM8
    • Q9UQJ8
    • Q9UQJ9
    • Q9Y632

    Protein attributes for APC2 Gene

    Size:
    2303 amino acids
    Molecular mass:
    243949 Da
    Quaternary structure:
    • Interacts with PSRC1 (By similarity). Interacts with APC, CTNNB1, MAPRE1, MAPRE3, TP53BP2 and possibly with AXIN2.
    SequenceCaution:
    • Sequence=AAD28183.1; Type=Frameshift; Positions=1322, 1338; Evidence={ECO:0000305}; Sequence=AAF01784.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=CAA10317.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB61207.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for APC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APC2 Gene

Post-translational modifications for APC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APC2 Gene

Domains & Families for APC2 Gene

Gene Families for APC2 Gene

Suggested Antigen Peptide Sequences for APC2 Gene

Graphical View of Domain Structure for InterPro Entry

O95996

UniProtKB/Swiss-Prot:

APC2_HUMAN :
  • Belongs to the adenomatous polyposis coli (APC) family.
  • Contains 6 ARM repeats.
Family:
  • Belongs to the adenomatous polyposis coli (APC) family.
Similarity:
  • Contains 6 ARM repeats.
genes like me logo Genes that share domains with APC2: view

Function for APC2 Gene

Molecular function for APC2 Gene

UniProtKB/Swiss-Prot Function:
Promotes rapid degradation of CTNNB1 and may function as a tumor suppressor. May function in Wnt signaling.

Gene Ontology (GO) - Molecular Function for APC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10644998
GO:0008013 beta-catenin binding IEA,IDA 9823329
GO:0008017 microtubule binding IEA --
GO:0045295 gamma-catenin binding IBA --
genes like me logo Genes that share ontologies with APC2: view
genes like me logo Genes that share phenotypes with APC2: view

Human Phenotype Ontology for APC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APC2 Gene

MGI Knock Outs for APC2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APC2 Gene

Localization for APC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APC2 Gene

Cytoplasm, cytoskeleton. Golgi apparatus. Cytoplasm. Cytoplasm, perinuclear region. Note=Associated with actin filaments (PubMed:11691822). Associated with microtubule network (PubMed:10644998, PubMed:11691822). {ECO:0000269 PubMed:10644998, ECO:0000269 PubMed:11691822}.

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 APC2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
golgi apparatus 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for APC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11691822
GO:0005794 Golgi apparatus IEA,IDA 11691822
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005881 colocalizes_with cytoplasmic microtubule IDA 10644998
genes like me logo Genes that share ontologies with APC2: view

Pathways & Interactions for APC2 Gene

genes like me logo Genes that share pathways with APC2: view

Pathways by source for APC2 Gene

SIGNOR curated interactions for APC2 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for APC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 25753423
GO:0001708 cell fate specification IBA --
GO:0007026 negative regulation of microtubule depolymerization IBA --
GO:0007389 pattern specification process IBA --
GO:0008283 cell proliferation IBA --
genes like me logo Genes that share ontologies with APC2: view

Transcripts for APC2 Gene

Unigene Clusters for APC2 Gene

Adenomatosis polyposis coli 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APC2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1:
SP2:
SP3: - - - - - - - - - - -
SP4: - - -
SP5: - -

Relevant External Links for APC2 Gene

GeneLoc Exon Structure for
APC2
ECgene alternative splicing isoforms for
APC2

Expression for APC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APC2 Gene

mRNA differential expression in normal tissues according to GTEx for APC2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.4), Brain - Cerebellar Hemisphere (x4.4), Brain - Cerebellum (x4.3), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for APC2 Gene

This gene is overexpressed in Serum (41.4), Plasma (13.9), and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for APC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of APC2 Gene:

APC2

SOURCE GeneReport for Unigene cluster for APC2 Gene:

Hs.446376

mRNA Expression by UniProt/SwissProt for APC2 Gene:

O95996-APC2_HUMAN
Tissue specificity: Widely expressed (at protein level). Specifically expressed in the CNS.
genes like me logo Genes that share expression patterns with APC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for APC2 Gene

Orthologs for APC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for APC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APC2 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia APC2 34 35
  • 84.16 (n)
cow
(Bos Taurus)
Mammalia APC2 34 35
  • 82.86 (n)
rat
(Rattus norvegicus)
Mammalia Apc2 34
  • 78.44 (n)
mouse
(Mus musculus)
Mammalia Apc2 34 16 35
  • 78.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia APC2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves APC2 34 35
  • 70.72 (n)
lizard
(Anolis carolinensis)
Reptilia APC2 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apc2 34
  • 56.19 (n)
zebrafish
(Danio rerio)
Actinopterygii apc2 34 35
  • 56.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta Apc2 35
  • 31 (a)
ManyToMany
Apc 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea apr-1 35
  • 20 (a)
OneToMany
Species where no ortholog for APC2 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for APC2 Gene

ENSEMBL:
Gene Tree for APC2 (if available)
TreeFam:
Gene Tree for APC2 (if available)

Paralogs for APC2 Gene

Paralogs for APC2 Gene

(1) SIMAP similar genes for APC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with APC2: view

Variants for APC2 Gene

Sequence variations from dbSNP and Humsavar for APC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_037703 A breast cancer sample
VAR_037704 A breast cancer sample
rs10402084 -- 1,458,178(+) AGCCC(A/G)GAGAG intron-variant
rs10409060 -- 1,462,429(+) ggcag(A/G)cagat intron-variant
rs10411353 -- 1,462,794(+) tgaaa(C/T)cccca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APC2 Gene

Variant ID Type Subtype PubMed ID
nsv953942 CNV deletion 24416366
nsv833705 CNV loss 17160897
nsv817811 CNV loss 17921354
nsv578294 CNV loss 21841781
nsv578293 CNV loss 21841781
nsv578287 CNV loss 21841781
nsv578283 CNV loss 21841781
nsv578280 CNV loss 21841781
nsv578279 CNV gain 21841781
nsv470105 CNV gain 18288195
nsv1072296 CNV deletion 25765185
esv32942 CNV gain+loss 17666407
esv2758743 CNV gain+loss 17122850
esv25963 CNV loss 19812545
dgv6201n54 CNV loss 21841781
dgv6200n54 CNV gain 21841781
dgv6199n54 CNV gain 21841781

Variation tolerance for APC2 Gene

Gene Damage Index Score: 9.57; 88.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APC2 Gene

Human Gene Mutation Database (HGMD)
APC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APC2 Gene

Disorders for APC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APC2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sotos syndrome 1
  • sotos syndrome
adenomatous polyposis coli
  • brain tumor-polyposis syndrome 2
- elite association - COSMIC cancer census association via MalaCards
Search APC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APC2

Genetic Association Database (GAD)
APC2
Human Genome Epidemiology (HuGE) Navigator
APC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APC2
genes like me logo Genes that share disorders with APC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APC2 Gene

Publications for APC2 Gene

  1. Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. (PMID: 10021369) van Es J.H. … Clevers H. (Curr. Biol. 1999) 2 3 4 22 64
  2. Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin. (PMID: 9823329) Nakagawa H. … Nakamura Y. (Cancer Res. 1998) 2 3 4 22 64
  3. Human APC2 localization and allelic imbalance. (PMID: 11691822) Jarrett C.R. … Byers S.W. (Cancer Res. 2001) 3 4 22 64
  4. APCL, a central nervous system-specific homologue of adenomatous polyposis coli tumor suppressor, binds to p53-binding protein 2 and translocates it to the perinucleus. (PMID: 10646860) Nakagawa H. … Nakamura Y. (Cancer Res. 2000) 3 4 22 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for APC2 Gene

Sources for APC2 Gene

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