APC2 - APC regulator of WNT signaling pathway 2 Gene

Homo sapiens

Also known as APCL; MRT74

Gene ID: 10297 | Gene type: protein coding

About APC2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,446,230-1,473,244 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in brain (RPKM 24.7) and adrenal (RPKM 1.1).

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]

APC2 Products(2)

mRNA	Protein	Name
NM_001351273.1	NP_001338202.1	adenomatous polyposis coli protein 2 isoform 2
NM_005883.3	NP_005874.1	adenomatous polyposis coli protein 2 isoform 1

APC2 Protein Structure

Suppressor_APC

Arm

APC_r

SAMP

APC_r

SAMP

APC_basic

0
400
800
1200
1600
2000
2303 a.a.

Protein Preferred Names

Protein Names

adenomatous polyposis coli protein 2

APC2, WNT signaling pathway regulator

Related Diseases

Diseases

Alias

Cortical Dysplasia, Complex, With Other Brain Malformations 10

CDCBM10

Intellectual Developmental Disorder, Autosomal Recessive 74

MRT74	Sotos Syndrome 3, Formerly
Sotos3, Formerly	Autosomal Recessive Intellectual Developmental Disorder 74
Sotos3	Sotos Syndrome 3

Sotos Syndrome 3

Sotos3

Sotos Syndrome, Type 3

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia

Tracheoesophageal Fistula	Congenital Atresia Of Esophagus
Congenital Imperforate Esophagus	Imperforate Esophagus
Oesophageal Atresia	Te Fistula
Tef	Tracheoesophageal Fistula With Or Without Esophageal Atresia

Penile Benign Neoplasm

Neoplasm Of Penis	Penile Tumor
Cancer Of Penis	Carcinoma Of Penis
Malignant Neoplasm Of Penis, Unspecified	Malignant Neoplasm Of Penis, Part Unspecified
Malignant Tumour Of Penis	Penile Cancer
Primary Malignant Neoplasm Of Penis	Malignant Neoplasm Of Skin Of Penis Nos

Paraphimosis

Male Reproductive Organ Benign Neoplasm

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Familial Adenomatous Polyposis

Adenomatous Polyposis Coli	Fap
Familial Polyposis Coli	Familial Multiple Polyposis Syndrome
Adenomatous Polyposis Of The Colon	Familial Intestinal Polyposis
Fpc	Familial Adenomatous Polyposis Of The Colon
Familial Multiple Polyposis	Familial Polyposis Of The Colon
Hereditary Polyposis Coli	Polyposis, Adenomatous Intestinal
Adenomatous Familial Polyposis	Adenomatous Familial Polyposis Syndrome
Myh-Associated Polyposis	Colorectal Adenomatous Polyposis
Adenomatous Polyposis, Familial	Mutyh-Associate Polyposis

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

Phimosis

Tight Foreskin	Tight Frenulum
Congenital Phimosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103255	CFM-4	Inducer	98.85%	Unkown
HY-153538	AP-C2	Inhibitor	/	Unkown
HY-RS00810	APC2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	APC2	VGNC	VGNC:26006
Felis catus	APC2	VGNC	VGNC:102000
Rattus norvegicus	APC2	RGD	RGD:1308256
Canis familiaris	APC2	VGNC	VGNC:54573
Macaca mulatta	APC2	VGNC	VGNC:69888
Mus musculus	APC2	MGD	MGI:1346052

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