PWWP2B PWWP domain containing 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PWWP2Bprovided by HGNC
Official Full Name: PWWP domain containing 2Bprovided by HGNC
Primary source: HGNC:HGNC:25150
See related: Ensembl:ENSG00000171813 AllianceGenome:HGNC:25150
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: PWWP2; pp8607; bA432J24.1
Summary: Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen (RPKM 6.8), colon (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (132397200..132417859)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (133344759..133365447)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (134210704..134231363)

Chromosome 10 - NC_000010.11 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: 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?

PWWP2B promotes DNA end resection and homologous recombination.
Title: PWWP2B promotes DNA end resection and homologous recombination.
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.

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

SHGC-147770 (e-PCR)
- UniSTS:172874

RH104133 (e-PCR)
- UniSTS:98458

RH92607 (e-PCR)
- UniSTS:91901

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NuRD complex 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	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 cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: PWWP domain-containing protein 2B

Names: PWWP domain containing 2

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_001098637.2 → NP_001092107.1 PWWP domain-containing protein 2B isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1,that results in a shorter protein (isoform 2) with a unique C-terminus, compared to isoform 1.

Source sequence(s)

AW166547, BC068574, BG260395, DB477789

Consensus CDS

CCDS44497.1

UniProtKB/Swiss-Prot

Q6NUJ5

Related

ENSP00000486501.1, ENST00000631148.2
NM_138499.4 → NP_612508.3 PWWP domain-containing protein 2B isoform 1

See identical proteins and their annotated locations for NP_612508.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AW166547, BC068574, DB477789

Consensus CDS

CCDS7667.2

UniProtKB/Swiss-Prot

A6NM90, B5MDQ1, H9KV61, Q5SZI0, Q6NUJ5, Q6ZQX5, Q96F43

Related

ENSP00000306324.5, ENST00000305233.6

Conserved Domains (1) summary

cd05835
Location:488 → 574

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 ...