AXIN2 axin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AXIN2provided by HGNC
Official Full Name: axin 2provided by HGNC
Primary source: HGNC:HGNC:904
See related: Ensembl:ENSG00000168646 MIM:604025; AllianceGenome:HGNC:904
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: AXIL; ODCRCS
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]
Expression: Ubiquitous expression in endometrium (RPKM 8.4), lung (RPKM 7.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (65528563..65561648, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (66399210..66432347, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (63524681..63557766, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients.
Title: What could be the role of genetic tests and machine learning of AXIN2 variant dominance in non-syndromic hypodontia? A case-control study in orthodontically treated patients.
Axin2 depletion in macrophages alleviated senescence and increased immune response after myocardial infarction.
Title: Axin2 depletion in macrophages alleviated senescence and increased immune response after myocardial infarction.
JNK2 Promotes Progression of Esophageal Squamous Cell Carcinoma via Inhibiting Axin2.
Title: JNK2 Promotes Progression of Esophageal Squamous Cell Carcinoma via Inhibiting Axin2.
Pancreatic stellate cell-derived exosomal tRF-19-PNR8YPJZ promotes proliferation and mobility of pancreatic cancer through AXIN2.
Title: Pancreatic stellate cell-derived exosomal tRF-19-PNR8YPJZ promotes proliferation and mobility of pancreatic cancer through AXIN2.
ALKBH5 Drives Immune Suppression Via Targeting AXIN2 to Promote Colorectal Cancer and Is a Target for Boosting Immunotherapy.
Title: ALKBH5 Drives Immune Suppression Via Targeting AXIN2 to Promote Colorectal Cancer and Is a Target for Boosting Immunotherapy.
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Title: AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders.
Title: Axin2 coupled excessive Wnt-glycolysis signaling mediates social defect in autism spectrum disorders.
Implications of Axis Inhibition Protein 2 in Breast Cancer Progression.
Title: Implications of Axis Inhibition Protein 2 in Breast Cancer Progression.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Title: AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Immunohistochemical expression of Axin-2, as an implication of the role of stem cell in scar pathogenesis and prognosis.
Title: Immunohistochemical expression of Axin-2, as an implication of the role of stem cell in scar pathogenesis and prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (116)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	Compare labs
Oligodontia-cancer predisposition syndrome MedGen: C1837750 OMIM: 608615 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-08) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-12-08) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153718 (e-PCR)
- UniSTS:183066

AXIN2_3354 (e-PCR)
- UniSTS:462048

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables I-SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	NAS Non-traceable Author Statement more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral axis specification	IEA Inferred from Electronic Annotation more info
involved_in intramembranous ossification	IEA Inferred from Electronic Annotation more info
involved_in mRNA stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of DNA repeat elements	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in osteoblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of centromeric sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centromeric sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in regulation of extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mismatch repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secondary heart field specification	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of beta-catenin destruction complex	IBA Inferred from Biological aspect of Ancestor more info
part_of beta-catenin destruction complex	NAS Non-traceable Author Statement more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: axin-2

Names: axin-like protein; axis inhibition protein 2; conductin

NCBI Reference Sequences (RefSeq)

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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

NG_012142.1 RefSeqGene

Range

5001..38060

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_296

mRNA and Protein(s)

NM_001363813.1 → NP_001350742.1 axin-2 isoform 2

Status: REVIEWED

Source sequence(s)

AC115994

Consensus CDS

CCDS86634.1

UniProtKB/TrEMBL

E7ES00, Q5H9R8

Related

ENSP00000478916.1, ENST00000618960.4

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:696 → 778

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
NM_004655.4 → NP_004646.3 axin-2 isoform 1

See identical proteins and their annotated locations for NP_004646.3

Status: REVIEWED

Source sequence(s)

BC101533, BE670767, CX756263, CX759580, DA754981, DA785881, DA839648

Consensus CDS

CCDS11662.1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8

Related

ENSP00000302625.5, ENST00000307078.10

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:761 → 843

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

65528563..65561648 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436872.1 → XP_047292828.1 axin-2 isoform X2

UniProtKB/TrEMBL

E7ES00, Q5H9R8

Related

ENSP00000364854.5, ENST00000375702.5
XM_047436870.1 → XP_047292826.1 axin-2 isoform X1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8
XM_047436873.1 → XP_047292829.1 axin-2 isoform X2

UniProtKB/TrEMBL

E7ES00, Q5H9R8
XM_011525319.3 → XP_011523621.1 axin-2 isoform X1

See identical proteins and their annotated locations for XP_011523621.1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:761 → 843

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
XM_017025192.2 → XP_016880681.1 axin-2 isoform X1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:761 → 843

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
XM_047436874.1 → XP_047292830.1 axin-2 isoform X2

UniProtKB/TrEMBL

E7ES00, Q5H9R8
XM_017025193.2 → XP_016880682.1 axin-2 isoform X2

UniProtKB/TrEMBL

E7ES00, Q5H9R8

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:696 → 778

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
XM_011525320.2 → XP_011523622.1 axin-2 isoform X1

See identical proteins and their annotated locations for XP_011523622.1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:761 → 843

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain
XM_047436871.1 → XP_047292827.1 axin-2 isoform X2

UniProtKB/TrEMBL

E7ES00, Q5H9R8
XM_011525321.3 → XP_011523623.1 axin-2 isoform X1

See identical proteins and their annotated locations for XP_011523623.1

UniProtKB/Swiss-Prot

Q3MJ88, Q9H3M6, Q9UH84, Q9Y2T1

UniProtKB/TrEMBL

Q5H9R8

Conserved Domains (4) summary

cd08707
Location:82 → 198

RGS_Axin; Regulator of G protein signaling (RGS) domain found in the Axin protein

smart00021
Location:761 → 843

DAX; Domain present in Dishevelled and axin

pfam08833
Location:432 → 467

Axin_b-cat_bind; Axin beta-catenin binding domain

pfam16646
Location:10 → 73

AXIN1_TNKS_BD; Axin-1 tankyrase binding domain