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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

External Ids for APC2 Gene

Previous GeneCards Identifiers for APC2 Gene

  • GC09U990134
  • GC19P001403
  • GC19P001397
  • GC19P001224

Summaries for APC2 Gene

Entrez Gene Summary for APC2 Gene

  • This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]

GeneCards Summary for APC2 Gene

APC2 (APC2, WNT Signaling Pathway Regulator) is a Protein Coding gene. Diseases associated with APC2 include Sotos Syndrome 3 and Sotos Syndrome 1. Among its related pathways are HTLV-I infection and MicroRNAs in cancer. Gene Ontology (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

  • Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329).

Additional gene information for APC2 Gene

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

Genomics for APC2 Gene

GeneHancer (GH) Regulatory Elements for APC2 Gene

Promoters and enhancers for APC2 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
GH19J001442 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.2 -1.8 -1777 3.6 HDGF PKNOX1 CLOCK ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B APC2 SF3A2 RNA5SP462 C19orf24 DAZAP1 C19orf25 PCSK4 REEP6 CIRBP GRIN3B
GH19J001450 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 650.7 +3.8 3809 0.2 MXI1 ATF1 ASH1L CEBPG BMI1 CTBP1 GLIS2 POLR2A EGR1 PATZ1 APC2 ENSG00000267317
GH19J001451 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 650.4 +5.8 5796 0.7 SP1 POLR2A REST APC2 ENSG00000267317
GH19J001453 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 14.4 +7.7 7731 0.8 KLF14 THRB ZNF335 GLIS2 EGR1 EGR2 ZNF280D SP3 ZEB2 ZFP69B APC2 MUM1 CBARP ENSG00000267317
GH19J001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.6 -189.4 -189409 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 MIER2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APC2 gene promoter:
  • p53
  • NRSF form 2
  • NRSF form 1
  • NF-1/L
  • NF-1
  • C/EBPalpha

Genomic Locations for APC2 Gene

Genomic Locations for APC2 Gene
chr19:1,446,268-1,473,244
(GRCh38/hg38)
Size:
26,977 bases
Orientation:
Plus strand
chr19:1,446,300-1,473,243
(GRCh37/hg19)
Size:
26,944 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-APCL_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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for APC2 Gene

Suggested Antigen Peptide Sequences for APC2 Gene

Graphical View of Domain Structure for InterPro Entry

O95996

UniProtKB/Swiss-Prot:

APCL_HUMAN :
  • Belongs to the adenomatous polyposis coli (APC) family.
Family:
  • Belongs to the adenomatous polyposis coli (APC) family.
genes like me logo Genes that share domains with APC2: view

Function for APC2 Gene

Molecular function for APC2 Gene

UniProtKB/Swiss-Prot Function:
Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329).

Gene Ontology (GO) - Molecular Function for APC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 10644998
GO:0008013 beta-catenin binding 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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, PubMed:25753423). Associated with microtubule network (PubMed:10644998, PubMed:11691822, PubMed:25753423). {ECO:0000269 PubMed:10644998, ECO:0000269 PubMed:11691822, ECO:0000269 PubMed:25753423}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Cytosol (3)
  • Midbody (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11691822
GO:0005794 Golgi apparatus IDA 11691822
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
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

Drugs & Compounds for APC2 Gene

No Compound Related Data Available

Transcripts for APC2 Gene

Unigene Clusters for APC2 Gene

Adenomatosis polyposis coli 2:
Representative Sequences:

Clone 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 CGAP 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 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-APCL_HUMAN
Tissue specificity: Widely expressed (at protein level). Specifically expressed in the CNS.

Evidence on tissue expression from TISSUES for APC2 Gene

  • Nervous system(4.9)
  • Kidney(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • pancreas
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with APC2: view

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 33
  • 98.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APC2 34 33
  • 84.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APC2 34 33
  • 82.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apc2 33
  • 78.44 (n)
mouse
(Mus musculus)
Mammalia Apc2 16 34 33
  • 78.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia APC2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves APC2 34 33
  • 70.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APC2 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apc2 33
  • 56.19 (n)
zebrafish
(Danio rerio)
Actinopterygii apc2 34 33
  • 56.48 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Apc2 34
  • 31 (a)
ManyToMany
Apc 34
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea apr-1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APC2: view image

Paralogs for APC2 Gene

Paralogs for APC2 Gene

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

  • APC2_HUMAN
  • B5MDS5_HUMAN
  • K7ELQ3_HUMAN
  • K7EN62_HUMAN
  • Q9UNL8_HUMAN
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 Variation AA Info Type
rs886040957 pathogenic, Sotos syndrome 3 1,468,495(+) CCCCCC/CCC/CCCCCCC coding_sequence_variant, frameshift, inframe_deletion
VAR_037703 A breast cancer sample p.Ala562Ser
VAR_037704 A breast cancer sample p.Gly2003Ser
rs201709261 likely-benign, not provided 1,457,007(+) C/T coding_sequence_variant, missense_variant
rs1000005384 -- 1,446,400(+) G/T genic_upstream_transcript_variant, intron_variant

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

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

Variation tolerance for APC2 Gene

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

Additional Variant Information for APC2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for APC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for APC2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sotos syndrome 3
  • sotos3
sotos syndrome 1
  • sotos1
familial adenomatous polyposis
  • adenomatous polyposis of the colon
- elite association - COSMIC cancer census association via MalaCards
Search APC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APCL_HUMAN
  • Sotos syndrome 3 (SOTOS3) [MIM:617169]: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS3 patients do not have advanced bone age, hypotonia, seizures, or autism. SOTOS3 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:25753423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for APC2

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

No data available for 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 JH … Clevers H (Current biology : CB 1999) 2 3 4 22 58
  2. Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin. (PMID: 9823329) Nakagawa H … Nakamura Y (Cancer research 1998) 2 3 4 22 58
  3. Human APC2 localization and allelic imbalance. (PMID: 11691822) Jarrett CR … Byers SW (Cancer research 2001) 3 4 22 58
  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 research 2000) 3 4 22 58
  5. Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. (PMID: 25753423) Almuriekhi M … Noda M (Cell reports 2015) 3 4 58

Products for APC2 Gene

Sources for APC2 Gene

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