PWWP2A PWWP domain containing 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: PWWP2Aprovided by HGNC
Official Full Name: PWWP domain containing 2Aprovided by HGNC
Primary source: HGNC:HGNC:29406
See related: Ensembl:ENSG00000170234 MIM:617823; AllianceGenome:HGNC:29406
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MST101
Summary: Enables NuRD complex binding activity; chromatin binding activity; and methylated histone binding activity. Involved in chromatin remodeling. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon (RPKM 1.9), skin (RPKM 1.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (160044316..160119450, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (160572113..160648036, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (159502889..159546457, complement)

Chromosome 5 - NC_000005.10 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?

It has been shown that dysregulation of the circular RNA PWWP2A-miR-579 axis is involved in dexamethasone-induced cytotoxicity in human osteoblasts.
Title: Dysregulation of cPWWP2A-miR-579 axis mediates dexamethasone-induced cytotoxicity in human osteoblasts.
PWWP2A is a complex chromatin-binding protein that serves to direct the deacetylase complex M1HR to H2A.Z-containing chromatin, thereby promoting changes in histone acetylation levels.PWWP2A's internal region binds H2A.Z nucleosomes and DNA.
Title: PWWP2A binds distinct chromatin moieties and interacts with an MTA1-specific core NuRD complex.
Study in HeLa, HEK293F, and mouse embryonic stem cells reveal that loss of PWWP2A/B leads to increases in histone acetylation predominantly at highly expressed genes, accompanied by decreases in Pol II elongation. Collectively, these findings suggest a role for PWWP2A/B in regulating transcription through the fine-tuning of histone acetylation dynamics at actively transcribed genes.
Title: A variant NuRD complex containing PWWP2A/B excludes MBD2/3 to regulate transcription at active genes.
Thus, PWWP2A is a novel H2A.Z-specific multivalent chromatin binder providing a surprising link between H2A.Z, chromosome segregation, and organ development.
Title: Multivalent binding of PWWP2A to H2A.Z regulates mitosis and neural crest differentiation.

Submit: New GeneRIF Correction

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

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

RH78084 (e-PCR)
- UniSTS:82697

NoName (e-PCR)
- UniSTS:484462

A009H27 (e-PCR)
- UniSTS:60284

RH103331 (e-PCR)
- UniSTS:97662

G32548 (e-PCR)
- UniSTS:117132

bac5774S (e-PCR)
- UniSTS:181665

RH44794 (e-PCR)
- UniSTS:68805

RH45035 (e-PCR)
- UniSTS:7414

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NuRD complex binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables methylated histone 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 chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription elongation by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcriptional start site selection at RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: PWWP domain-containing protein 2A

Names: MSTP101

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)

NM_001130864.2 → NP_001124336.1 PWWP domain-containing protein 2A isoform b

See identical proteins and their annotated locations for NP_001124336.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site at its 3'-terminal exon, compared to variant 1, which results in a protein (isoform B) with a longer and distinct C-terminus, compared to isoform A.

Source sequence(s)

AC008706, AI972512, AK055921, BC018680, BC105110, DB450981

Consensus CDS

CCDS47332.1

UniProtKB/Swiss-Prot

G5EA07, Q2HJJ2, Q8IYR3, Q96N64, Q96PV3

Related

ENSP00000305151.7, ENST00000307063.9

Conserved Domains (1) summary

cd05835
Location:653 → 739

Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
NM_001267035.3 → NP_001253964.1 PWWP domain-containing protein 2A isoform c

See identical proteins and their annotated locations for NP_001253964.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a protein (isoform C) with a shorter C-terminus, compared to isoform A.

Source sequence(s)

AC008706, BC039106, BC143437, BI548991, CB218424, DB450981

Consensus CDS

CCDS58990.1

UniProtKB/Swiss-Prot

Q96N64

Related

ENSP00000428143.1, ENST00000523662.1
NM_001349732.2 → NP_001336661.1 PWWP domain-containing protein 2A isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, and its 3' terminal exon extends past a splice site that is used in variant 1. These differences cause translation initiation at a downstream start codon and results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC008706, AI288438, AI972512, AK055921, BC018680, BC105110, DB450981

Conserved Domains (1) summary

cd05835
Location:436 → 522

Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...
NM_001349733.2 → NP_001336662.1 PWWP domain-containing protein 2A isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate exon in the 5' region, resulting in use of a downstream start codon compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.

Source sequence(s)

AC008706, AI288438, AV720552, BC035076, BC039106, BC105110, CB218424, DB450981
NM_001349734.2 → NP_001336663.1 PWWP domain-containing protein 2A isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains two consecutive alternate exons in the 5' region, and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (f) with a shorter N-terminus and lacking an internal segment, compared to isoform a. Variants 6 and 7 encode the same protein (isoform f).

Source sequence(s)

AC008706, AI288438, BC039106, BC105110, BC143437, CB218424, DB450981
NM_001349735.2 → NP_001336664.1 PWWP domain-containing protein 2A isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (7) contains an alternate exon in the 5' region, and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (f) with a shorter N-terminus and lacking an internal segment, compared to isoform a. Variants 6 and 7 encode the same protein (isoform f).

Source sequence(s)

AC008706, AI288438, BC039106, BC143437, BI548991, CB218424, DB450981
NM_052927.4 → NP_443159.1 PWWP domain-containing protein 2A isoform a

See identical proteins and their annotated locations for NP_443159.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AC008706, AV720552, BC035076, BC039106, BC105110, CB218424, DB450981

Consensus CDS

CCDS47331.1

UniProtKB/Swiss-Prot

Q96N64

Related

ENSP00000390462.2, ENST00000456329.7

Conserved Domains (1) summary

PTZ00121
Location:323 → 464

PTZ00121; MAEBL; Provisional

RNA

NR_146216.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (8) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008706, AV720552, BC035076, BC039106, BC105110, CB218424, CN336545, DB450981
NR_146217.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (9) contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008706, AI288438, AV720552, BC035076, BC039106, BC105110, CB218424, CN336545, DB450981

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

160044316..160119450 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534424.4 → XP_011532726.1 PWWP domain-containing protein 2A isoform X1
XM_005265812.4 → XP_005265869.2 PWWP domain-containing protein 2A isoform X3
XM_005265811.4 → XP_005265868.1 PWWP domain-containing protein 2A isoform X2

See identical proteins and their annotated locations for XP_005265868.1

Conserved Domains (1) summary

cd05835
Location:436 → 522

Dnmt3b_related; The PWWP domain is an essential component of DNA methyltransferase 3 B (Dnmt3b) which is responsible for establishing DNA methylation patterns during embryogenesis and gametogenesis. In tumorigenesis, DNA methylation by Dnmt3b is known to play a role in ...