AXIN2 - axin 2 Gene

Also Known as AXIL; ODCRCS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8313

About AXIN2

Cytogenetic location: 17q24.1 Genomic coordinates (GRCh38): 17:65,528,563-65,561,648 (from NCBI)

This gene has 8 transcripts (splice variants), 261 orthologues, 23 paralogues and is associated with 94 phenotypes. Ubiquitous expression in endometrium (RPKM 8.4), lung (RPKM 7.1) and 23 other tissues.

Summary

The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast Cancer, neuroblastoma, and Other tumors. Mutations in this gene have been associated with colorectal Cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]

AXIN2 Products (2)

mRNA	Protein	Name
NM_001363813.1	NP_001350742.1	axin-2 isoform 2
NM_004655.4	NP_004646.3	axin-2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	19759537	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10698523	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21478859	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	17072303	GOA
involved in mRNA stabilization	IMP IMP: Inferred from mutant phenotype	17072303	GOA
involved in maintenance of DNA repeat elements	IMP IMP: Inferred from mutant phenotype	18755497	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	11940574	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	11017067	GOA
involved in odontogenesis	IMP IMP: Inferred from mutant phenotype	15042511	GOA
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	17072303	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	20300119	GOA
involved in protein localization	IDA IDA: Inferred from direct assay	17072303	GOA
involved in regulation of centromeric sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	20300119	GOA
involved in regulation of mismatch repair	IMP IMP: Inferred from mutant phenotype	11017067	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in centrosome	IDA IDA: Inferred from direct assay	20300119	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21383061	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12072559	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AXIN2 Protein Structure

RGS

Axin_b-cat_bind

DIX

0
200
400
600
800
843 a.a.

Protein Preferred Names	Protein Names
axin-2	axin-like protein

AXIN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	AXIN2	Q9Y2T1	GSK3A	Homo sapiens	P49840	Anti Tag CoIP	33961781
Intra	AXIN2	Q9Y2T1	PPP2CB	Homo sapiens	P62714	Phosphatase Assay	10698523
Intra	AXIN2	Q9Y2T1	PPP2CB	Homo sapiens	P62714	Anti Tag CoIP	10698523
Intra	AXIN2	Q9Y2T1	CAPN7	Homo sapiens	Q9Y6W3	Validated Y2H	32296183
Intra	AXIN2	Q9Y2T1	GSK3B	Homo sapiens	P49841	Anti Tag CoIP	33961781
Intra	AXIN2	Q9Y2T1	TGIF1	Homo sapiens	Q15583	Anti Bait CoIP	25873176

Cross: Cross-species interaction Intra: Intraspecies interaction

AXIN2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82477	Axin 2 Antibody (YA2222)	WB	Human, Mouse, Rat
HY-P82477A	Axin 2 Antibody (YA2222)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Cancer Predisposition Syndrome ODCRCS Tooth Agenesis-Colorectal Cancer Syndrome Autosomal Dominant Ectodermal Dysplasia-Cancer Predisposition Syndrome Cancer, Oligodontia-Colorectal, Syndrome
Axin2-Related Attenuated Familial Adenomatous Polyposis	Axin2-Related Afap Axin2-Related Attenuated Fap Axin2-Related Attenuated Familial Polyposis Coli
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
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
Anodontia	Complete Absence Of Teeth Developmental Absence Of Tooth Total Anodontia Of Permanent And Deciduous Teeth Absence Of Permanent Teeth Anodontia Of Permanent Dentition Agomphiasis Agomphosis Anodontism Complete Developmental Absence Of Teeth Congenital Absence Of Teeth Congenital Complete Absence Of Teeth Congenital Edentia Absence Of Teeth Absent Teeth Congenital Partial Absence Of Teeth Partial Absence Of Teeth Partial Anodontia
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Ectodermal Dysplasia 13, Hair/Tooth Type	ECTD13 Ectodermal Dysplasia 13
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arc Syndrome ARCS1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Arcs Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, And Cholestasis Arthrogryposis-Renal Dysfunction-Cholestasis Arthrogryposis - Renal Dysfunction - Cholestasis Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1 Arthrogryposis Renal Dysfunction And Cholestasis 1 Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 Kidney Failure Renal Insufficiency
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Christ-Siemens-Touraine Syndrome XHED Ectodermal Dysplasia 1 Xlhed Ed1 Cst Syndrome Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked Ectd1 Ectodermal Dysplasia, Anhidrotic, X-Linked Eda Eda1 Hed1 Ectodermal Dysplasia 1, Anhidrotic X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia Hypohidrotic X-Linked Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, 1 Hypohidrotic Ectodermal Dysplasia, X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Adamantinous Craniopharyngioma	Adamantinous Rathke'S Pouch Tumor Craniopharyngioma, Adamantinomatous Adamantinomatous Craniopharyngioma
Colon Adenoma	Adenomatous Polyp Of Colon
Hereditary Mixed Polyposis Syndrome	Hmps
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Desmoid Tumor	Aggressive Fibromatosis Desmoid Type Fibromatosis Familial Infiltrative Fibromatosis Desmoid Disorder, Hereditary Fif Fibromatosis, Familial Infiltrative Deep Fibromatosis Desmoid Fibromatosis Hereditary Desmoid Disease Musculoaponeurotic Fibromatosis Desmoid-Type Fibromatosis Fibromatosis, Aggressive Desmoid Disease, Hereditary Musculo-Aponeurotic Fibromatosis
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Colonic Benign Neoplasm	Colon Neoplasm Colonic Mass Colonic Tumor Neoplasm Of Colon Neoplasm Of The Colon Colonic Neoplasms Colon Cancer Colon Carcinoma Nos Colonic Cancer Metastatic Colon Cancer Nos
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Cardiomyopathy, Dilated, 1l	Dilated Cardiomyopathy 1l CMD1L Cardiomyopathy, Dilated 1l Cardiomyopathy, Dilated, Type 1l
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Orofacial Cleft	Cleft, Orofacial
Robinow Syndrome	Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Robinow Dwarfism Mesomelic Dwarfism-Small Genitalia Syndrome Robinow-Silverman-Smith Syndrome Costovertebral Segmentation Defect With Mesomelia Covesdem Syndrome Robinow'S Syndrome Robinow-Silverman Syndrome
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-137849	RK-582	Inhibitor	98.05%	Phase 1

Pre-clinical Phase

Bioactive Molecules (12)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-123851	MSC2504877	Inhibitor	99.25%	Unkown
HY-112799	DK419	Inhibitor	99.86%	Unkown
HY-163767	Antitumor agent-171	Inhibitor	98.48%	Unkown
HY-146336	PARP1/2/TNKS1/2-IN-1		98.66%	Unkown
HY-108516	TC-E 5001	Inhibitor	/	Unkown
HY-114943	TNKS-IN-1	Inhibitor	99.55%	Unkown
HY-165503	AZ1366	Inhibitor	/	Unkown
HY-180449	AXIN2/β-catenin-IN-1	Inhibitor	/	Unkown
HY-181930	TNIK-IN-10		/	Unkown
HY-RS01292	AXIN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20863	Axin2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27378	Axin2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P991311	GSK3178022	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AXIN2	VGNC	VGNC:68884
Canis familiaris	AXIN2	VGNC	VGNC:38325
Rattus norvegicus	AXIN2	RGD	RGD:69259
Bos taurus	AXIN2	VGNC	VGNC:26365
Mus musculus	AXIN2	MGD	MGI:1270862
Macaca mulatta	AXIN2	VGNC	VGNC:104582
Others	AXIN2	NCBI