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    Asxl2 ASXL transcriptional regulator 2 [ Mus musculus (house mouse) ]

    Gene ID: 75302, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Asxl2provided by MGI
    Official Full Name
    ASXL transcriptional regulator 2provided by MGI
    Primary source
    MGI:MGI:1922552
    See related
    Ensembl:ENSMUSG00000037486 AllianceGenome:MGI:1922552
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA1685; 4930556B16Rik
    Summary
    This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012]
    Expression
    Ubiquitous expression in liver E14 (RPKM 2.4), CNS E11.5 (RPKM 2.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Asxl2 in Genome Data Viewer
    Location:
    12 A1.1; 12 1.81 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (3476892..3560811)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (3426857..3510811)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA I920046F24 gene Neighboring gene STARR-seq mESC enhancer starr_31408 Neighboring gene RIKEN cDNA 1110002L01 gene Neighboring gene kinesin family member 3C Neighboring gene STARR-positive B cell enhancer ABC_E4022 Neighboring gene STARR-positive B cell enhancer mm9_chr12:3427648-3427949 Neighboring gene predicted gene, 31332 Neighboring gene STARR-seq mESC enhancer starr_31410 Neighboring gene STARR-seq mESC enhancer starr_31411 Neighboring gene STARR-seq mESC enhancer starr_31412 Neighboring gene ribosomal protein S7, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_31413 Neighboring gene STARR-seq mESC enhancer starr_31417 Neighboring gene dystrobrevin, beta Neighboring gene 40S ribosomal protein S26-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Role of Asxl2 in non‑alcoholic steatohepatitis‑related hepatocellular carcinoma developed from diabetes. Hu Z, et al. Int J Mol Med, 2021 Jan. PMID 33155659, Free PMC Article
    2. ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion. Madan V, et al. Haematologica, 2018 Dec. PMID 30093396, Free PMC Article
    3. Asxl2(-/-) Mice Exhibit De Novo Cardiomyocyte Production during Adulthood. Brunner R, et al. J Dev Biol, 2016 Nov 3. PMID 29615595, Free PMC Article
    4. Loss of Asxl2 leads to myeloid malignancies in mice. Li J, et al. Nat Commun, 2017 Jun 8. PMID 28593990, Free PMC Article
    5. Identification and characterization of ASXL2 gene in silico. Katoh M, et al. Int J Oncol, 2003 Sep. PMID 12888926

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASXL1/2 mutations and myeloid malignancies.
      Title: ASXL1/2 mutations and myeloid malignancies.
    2. BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
      Title: BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
    3. Role of Asxl2 in nonalcoholic steatohepatitisrelated hepatocellular carcinoma developed from diabetes.
      Title: Role of Asxl2 in non‑alcoholic steatohepatitis‑related hepatocellular carcinoma developed from diabetes.
    4. Myeloid-specific Asxl2 deletion limits diet-induced obesity by regulating energy expenditure.
      Title: Myeloid-specific Asxl2 deletion limits diet-induced obesity by regulating energy expenditure.
    5. Findings indicate a critical role for additional sex combs-like protein 2 (ASXL2) in maintaining steady state hematopoiesis, and how its loss primes the expansion of myeloid cells.
      Title: ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion.
    6. ASXL2 functions as a tumour suppressor to maintain normal Hematopoietic stem cell function.
      Title: Loss of Asxl2 leads to myeloid malignancies in mice.
    7. ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia.
      Title: ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia.
    8. ASXL2 is a master regulator of skeletal, lipid, and glucose homeostasis
      Title: ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis.
    9. Asxl2-/- neonates have patent ductus arteriosus and consequent lung hemorrhage and die soon after birth.
      Title: Additional sex combs-like family genes are required for normal cardiovascular development.
    10. ASXL2 and WTIP are expressed in mouse embryonic epicardial cells. ASXL2 and WTIP participate in regulation of retinoic acid signaling during heart development.
      Title: WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC176101

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peroxisome proliferator activated receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peroxisome proliferator activated receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peroxisome proliferator activated receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of bone mineralization involved in bone maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of macrophage differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of bone mineralization involved in bone maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of lipid storage ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of macrophage differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PR-DUB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    putative Polycomb group protein ASXL2
    Names
    additional sex combs like 2, transcriptional regulator
    additional sex combs-like protein 2
    polycomb group protein ASXH2 homolog

    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.

    mRNA and Protein(s)

    1. NM_001270988.2 → NP_001257917.1  putative Polycomb group protein ASXL2 isoform 1

      See identical proteins and their annotated locations for NP_001257917.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC155273, AC160138, AK036839, AK080679, BP763544
      UniProtKB/TrEMBL
      B2RUG8, F6WV21
      Conserved Domains (3) summary
      pfam05066
      Location:11 → 83
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:263 → 381
      ASXH; Asx homology domain
      pfam13922
      Location:1356 → 1416
      PHD_3; PHD domain of transcriptional enhancer, Asx

    2. NM_172421.6 → NP_766009.2  putative Polycomb group protein ASXL2 isoform 2

      See identical proteins and their annotated locations for NP_766009.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC155273, AC160138, AK016141, AK036839, BP763544
      UniProtKB/TrEMBL
      D6REV1, F6WV21, F8VQA8
      Related
      ENSMUSP00000117384.3, ENSMUST00000153102.9
      Conserved Domains (3) summary
      pfam05066
      Location:11 → 83
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:212 → 333
      ASXH; Asx homology domain
      pfam13922
      Location:1308 → 1368
      PHD_3; PHD domain of transcriptional enhancer, Asx

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      3476892..3560811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157639.1 → XP_036013532.1  putative Polycomb group protein ASXL2 isoform X4

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (4) summary
      PHA03247
      Location:480 → 924
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1307 → 1367
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:11 → 82
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:210 → 332
      ASXH; Asx homology domain

    2. XM_006515239.5 → XP_006515302.1  putative Polycomb group protein ASXL2 isoform X2

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (4) summary
      PHA03247
      Location:528 → 972
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1355 → 1415
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam05066
      Location:11 → 82
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:262 → 380
      ASXH; Asx homology domain

    3. XM_036157645.1 → XP_036013538.1  putative Polycomb group protein ASXL2 isoform X8

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:340 → 784
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1167 → 1227
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:74 → 192
      ASXH; Asx homology domain

    4. XM_006515241.2 → XP_006515304.1  putative Polycomb group protein ASXL2 isoform X9

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:292 → 736
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1119 → 1179
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:22 → 144
      ASXH; Asx homology domain

    5. XM_030246969.2 → XP_030102829.1  putative Polycomb group protein ASXL2 isoform X5

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:471 → 915
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1298 → 1358
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:205 → 323
      ASXH; Asx homology domain

    6. XM_036157641.1 → XP_036013534.1  putative Polycomb group protein ASXL2 isoform X7

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:355 → 799
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1182 → 1242
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:89 → 207
      ASXH; Asx homology domain

    7. XM_036157640.1 → XP_036013533.1  putative Polycomb group protein ASXL2 isoform X6

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:457 → 901
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1284 → 1344
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:191 → 309
      ASXH; Asx homology domain

    8. XM_030246972.2 → XP_030102832.1  putative Polycomb group protein ASXL2 isoform X10

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:273 → 717
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1100 → 1160
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:4 → 125
      ASXH; Asx homology domain

    9. XM_036157648.1 → XP_036013541.1  putative Polycomb group protein ASXL2 isoform X10

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:273 → 717
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1100 → 1160
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:4 → 125
      ASXH; Asx homology domain

    10. XM_030246970.2 → XP_030102830.1  putative Polycomb group protein ASXL2 isoform X8

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:340 → 784
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1167 → 1227
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:74 → 192
      ASXH; Asx homology domain

    11. XM_036157644.1 → XP_036013537.1  putative Polycomb group protein ASXL2 isoform X7

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:355 → 799
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1182 → 1242
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:89 → 207
      ASXH; Asx homology domain

    12. XM_036157642.1 → XP_036013535.1  putative Polycomb group protein ASXL2 isoform X7

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:355 → 799
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1182 → 1242
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:89 → 207
      ASXH; Asx homology domain

    13. XM_036157649.1 → XP_036013542.1  putative Polycomb group protein ASXL2 isoform X10

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:273 → 717
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1100 → 1160
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:4 → 125
      ASXH; Asx homology domain

    14. XM_036157646.1 → XP_036013539.1  putative Polycomb group protein ASXL2 isoform X8

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:340 → 784
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1167 → 1227
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:74 → 192
      ASXH; Asx homology domain

    15. XM_036157643.1 → XP_036013536.1  putative Polycomb group protein ASXL2 isoform X7

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:355 → 799
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1182 → 1242
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:89 → 207
      ASXH; Asx homology domain

    16. XM_036157647.1 → XP_036013540.1  putative Polycomb group protein ASXL2 isoform X8

      UniProtKB/TrEMBL
      F6WV21
      Conserved Domains (3) summary
      PHA03247
      Location:340 → 784
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:1167 → 1227
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:74 → 192
      ASXH; Asx homology domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZ32.1 GenPept UniProtKB/Swiss-Prot:Q8BZ32

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