ASXL2 ASXL transcriptional regulator 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASXL2provided by HGNC
Official Full Name: ASXL transcriptional regulator 2provided by HGNC
Primary source: HGNC:HGNC:23805
See related: Ensembl:ENSG00000143970 MIM:612991; AllianceGenome:HGNC:23805
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: ASXH2; SHAPNS
Summary: This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]
Expression: Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (25733753..25878487, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (25769050..25913813, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (25956622..26101356, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the landscape of somatic ASXL2 mutations in myeloid neoplasms: Frequency and clinical implications.
Title: Exploring the landscape of somatic ASXL2 mutations in myeloid neoplasms: Frequency and clinical implications.
Kinetic Characterization of ASXL1/2-Mediated Allosteric Regulation of the BAP1 Deubiquitinase.
Title: Kinetic Characterization of ASXL1/2-Mediated Allosteric Regulation of the BAP1 Deubiquitinase.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Title: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Association between serum antiASXL2 antibody levels and acute ischemic stroke, acute myocardial infarction, diabetes mellitus, chronic kidney disease and digestive organ cancer, and their possible association with atherosclerosis and hypertension.
Title: Association between serum anti‑ASXL2 antibody levels and acute ischemic stroke, acute myocardial infarction, diabetes mellitus, chronic kidney disease and digestive organ cancer, and their possible association with atherosclerosis and hypertension.
[The Relationship between ASXL2 and ZBTB7A Gene Mutations and Prognosis in Patients with Acute Myeloid Leukemia].
Title: [The Relationship between ASXL2 and ZBTB7A Gene Mutations and Prognosis in Patients with Acute Myeloid Leukemia].
ASXL2 gene mutation may not be closely related with C-KIT gene mutation
Title: [Relation of ASXL2 Gene Mutation with Clinical Characteristics, Prognosis and C-KIT Gene Mutation in AML Patients with AML1- ETO Fusion Gene].
ASXL2 mutation was frequent in non-de novo AML1-ETO-negative AML. 6 ASXL2 mutated AML patients were studied in detail and all ASXL2-mutated de-novo AML was positive for AML1-ETO; however, other ASXL2-mutated AML belonged to non-de-novo AML and they all were negative for AML1-ETO in this study.
Title: ASXL2 mutation is recurrent in non-de novo AML1-ETO-negative acute myeloid leukemia.
after KIT and NRAS, ASXL2 is among the most frequently mutated genes in t(8;21)-positive acute myeloid leukemia (AML), occurring in almost 17% of the patients in the cohort; high incidence and the exclusivity of ASXL2 mutation in this AML subset implies its particular role as a potential co-operating event in leukemogenesis of t(8;21)-positive AML
Title: Incidence and prognostic impact of ASXL2 mutations in adult acute myeloid leukemia patients with t(8;21)(q22;q22): a study of the German-Austrian AML Study Group.
ASXL2 and ZBTB7A mutations were frequently identified in Japanese AML patients with t(8;21), but not in those with inv(16). Further analysis is required to clarify the detailed biological mechanism of AE9a regulation of the cohesin complex.
Title: Clinical significance of ASXL2 and ZBTB7A mutations and C-terminally truncated RUNX1-RUNX1T1 expression in AML patients with t(8;21) enrolled in the JALSG AML201 study.
Loss of ASXL2 expression is associated with tumorigenesis.
Title: Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Shashi-Pena syndrome MedGen: C4310672 OMIM: 617190 GeneReviews: Shashi-Pena Syndrome	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2018-06-28) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2018-06-28) 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of additional sex combs like 2 (ASXL2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2091 (e-PCR)
- UniSTS:153909

SGC33449 (e-PCR)
- UniSTS:68709

UniSTS:234880 (e-PCR)
- UniSTS:234880

G63712 (e-PCR)
- UniSTS:140673

A004H29 (e-PCR)
- UniSTS:10380

RH122598 (e-PCR)
- UniSTS:138661

RH92772 (e-PCR)
- UniSTS:88246

RH17952 (e-PCR)
- UniSTS:33211

D22S1565 (e-PCR)
- UniSTS:62654

ASXL2_4387 (e-PCR)
- UniSTS:463551

Gene Ontology Provided by GOA

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 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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of PR-DUB complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

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

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_052995.1 RefSeqGene

Range

5030..149764

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1421

mRNA and Protein(s)

NM_001369346.1 → NP_001356275.1 putative Polycomb group protein ASXL2 isoform 2

Status: REVIEWED

Source sequence(s)

AC010150, AC064847

UniProtKB/TrEMBL

E7EWD6

Conserved Domains (3) summary

PHA03247
Location:686 → 926

PHA03247; large tegument protein UL36; Provisional

pfam13922
Location:1315 → 1375

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam13919
Location:202 → 320

ASXH; Asx homology domain
NM_001369347.1 → NP_001356276.1 putative Polycomb group protein ASXL2 isoform 3

Status: REVIEWED

Source sequence(s)

AC010150, AC064847

UniProtKB/TrEMBL

E7EWD6

Conserved Domains (3) summary

PHA03247
Location:484 → 724

PHA03247; large tegument protein UL36; Provisional

pfam13922
Location:1113 → 1173

PHD_3; PHD domain of transcriptional enhancer, Asx

pfam13919
Location:1 → 118

ASXH; Asx homology domain
NM_018263.6 → NP_060733.4 putative Polycomb group protein ASXL2 isoform 1

See identical proteins and their annotated locations for NP_060733.4

Status: REVIEWED

Source sequence(s)

AB051472, AC010150, BX647527

Consensus CDS

CCDS92720.1

UniProtKB/Swiss-Prot

Q53TC9, Q5H9U4, Q76L81, Q76L83, Q86XM1, Q9C0H8, Q9NV67

UniProtKB/TrEMBL

E7EWD6

Related

ENSP00000391447.3, ENST00000435504.9

Conserved Domains (3) summary

pfam05066
Location:11 → 83

HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain

pfam13919
Location:260 → 378

ASXH; Asx homology domain

pfam13922
Location:1373 → 1433

PHD_3; PHD domain of transcriptional enhancer, Asx