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APC2 APC2, WNT signaling pathway regulator [ Homo sapiens (human) ]

Gene ID: 10297, updated on 2-Oct-2018

Summary

Official Symbol
APC2provided by HGNC
Official Full Name
APC2, WNT signaling pathway regulatorprovided by HGNC
Primary source
HGNC:HGNC:24036
See related
Ensembl:ENSG00000115266 MIM:612034; Vega:OTTHUMG00000180059
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APCL
Summary
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]
Expression
Biased expression in brain (RPKM 24.7) and adrenal (RPKM 1.1) See more
Orthologs

Genomic context

See APC2 in Genome Data Viewer
Location:
19p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (1446268..1473244)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1446269..1473243)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene DAZ associated protein 1 Neighboring gene ribosomal protein S15 Neighboring gene chromosome 19 open reading frame 25 Neighboring gene proprotein convertase subtilisin/kexin type 4 Neighboring gene receptor accessory protein 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Endometrial cancer, organism-specific biosystem (from KEGG)
    Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Endometrial cancer, conserved biosystem (from KEGG)
    Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
gamma-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of microtubule depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin destruction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catenin complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
colocalizes_with filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
lamellipodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenomatous polyposis coli protein 2
Names
adenomatosis polyposis coli 2
adenomatous polyposis coli like

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055243.1 RefSeqGene

    Range
    8882..31977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351273.1NP_001338202.1  adenomatous polyposis coli protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 5' coding region, compared to variant 1. This difference results in a protein (isoform 2) that is one amino acid shorter than isoform 1.
    Source sequence(s)
    AC027307
    Conserved Domains (8) summary
    smart00185
    Location:613653
    ARM; Armadillo/beta-catenin-like repeats
    pfam16689
    Location:657
    APC_N_CC; Coiled-coil N-terminus of APC, dimerisation domain
    sd00043
    Location:526559
    ARM; armadillo repeat [structural motif]
    pfam05923
    Location:12591280
    APC_r; APC repeat
    pfam05956
    Location:17852111
    APC_basic; APC basic domain
    pfam11414
    Location:124204
    Suppressor_APC; Adenomatous polyposis coli tumor suppressor protein
    pfam16629
    Location:696943
    Arm_APC_u3; Armadillo-associated region on APC
    cl26464
    Location:13141910
    Atrophin-1; Atrophin-1 family
  2. NM_005883.2NP_005874.1  adenomatous polyposis coli protein 2 isoform 1

    See identical proteins and their annotated locations for NP_005874.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC027307, BC032573
    Consensus CDS
    CCDS12068.1
    UniProtKB/Swiss-Prot
    O95996
    Related
    ENSP00000233607.2, ENST00000233607.6
    Conserved Domains (8) summary
    cd00020
    Location:576694
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:12601281
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:16261643
    SAMP; SAMP Motif
    pfam05956
    Location:17862112
    APC_basic; APC basic domain
    pfam11414
    Location:124205
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:697944
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16689
    Location:657
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:527560
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    1446268..1473244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259475.2XP_005259532.1  adenomatous polyposis coli protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005259532.1

    Conserved Domains (8) summary
    cd00020
    Location:600718
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:12841305
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:16501667
    SAMP; SAMP Motif
    pfam05956
    Location:18102136
    APC_basic; APC basic domain
    pfam11414
    Location:148229
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:721968
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16689
    Location:3081
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:551584
    ARM; armadillo repeat [structural motif]
  2. XM_006722607.2XP_006722670.1  adenomatous polyposis coli protein 2 isoform X4

    Conserved Domains (8) summary
    cd00020
    Location:599717
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:12831304
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:16491666
    SAMP; SAMP Motif
    pfam05956
    Location:18092135
    APC_basic; APC basic domain
    pfam11414
    Location:148228
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:720967
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16689
    Location:3081
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:550583
    ARM; armadillo repeat [structural motif]
  3. XM_006722608.3XP_006722671.2  adenomatous polyposis coli protein 2 isoform X1

  4. XM_006722610.3XP_006722673.2  adenomatous polyposis coli protein 2 isoform X2

  5. XM_006722609.3XP_006722672.1  adenomatous polyposis coli protein 2 isoform X5

    See identical proteins and their annotated locations for XP_006722672.1

    UniProtKB/Swiss-Prot
    O95996
    Related
    ENSP00000442954.1, OTTHUMP00000263236, ENST00000535453.5, OTTHUMT00000449539
    Conserved Domains (8) summary
    cd00020
    Location:576694
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05923
    Location:12601281
    APC_crr; APC cysteine-rich region
    pfam05924
    Location:16261643
    SAMP; SAMP Motif
    pfam05956
    Location:17862112
    APC_basic; APC basic domain
    pfam11414
    Location:124205
    Suppressor_APC; Adenomatous polyposis coli tumour suppressor protein
    pfam16629
    Location:697944
    Arm_APC_u3; Armadillo-associated region on APC
    pfam16689
    Location:657
    APC_N_CC; Coiled-coil N-terminus of APC, dimerization domain
    sd00043
    Location:527560
    ARM; armadillo repeat [structural motif]
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