nsd2 nuclear receptor binding SET domain protein 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: nsd2provided by ZNC
Official Full Name: nuclear receptor binding SET domain protein 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2581
See related: Ensembl:ENSDARG00000026225 AllianceGenome:ZFIN:ZDB-GENE-030131-2581
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: whsc1; fc12c04; wu:fc12c04; wu:fi20c01; si:rp71-77d7.2
Summary: Predicted to enable histone methyltransferase activity (H3-K36 specific). Acts upstream of or within cartilage development; embryonic skeletal system development; and histone H3-K36 dimethylation. Predicted to be located in chromosome. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including fin; immature eye; nervous system; neural plate; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Wolf-Hirschhorn syndrome. Orthologous to human NSD2 (nuclear receptor binding SET domain protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 13

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (12993851..13030841, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (12861376..12898366, complement)

Chromosome 13 - NC_007124.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results indicate that DrWhsc1 is a functional homolog of WHSC1 and that the SET domain of DrWhsc1 is essential for di-methylation of histone H3K36 in zebrafish.
Title: Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2.

Submit: New GeneRIF Correction

General gene information

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Markers

fc12c04.x1 (e-PCR)
- UniSTS:187744

fi20c01.x1 (e-PCR)
- UniSTS:196992

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables histone H3K36 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3K36 methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables histone methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: histone-lysine N-methyltransferase NSD2

Names: Wolf-Hirschhorn syndrome candidate 1

NP_001076020.1

EC 2.1.1.354

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_001082551.1 → NP_001076020.1 histone-lysine N-methyltransferase NSD2

Status: VALIDATED

Source sequence(s)

CR556722, CT573111

UniProtKB/TrEMBL

A0A8M1ND41, B8JIA4

Related

ENSDARP00000002944.8, ENSDART00000009499.9

Conserved Domains (7) summary

cd05838
Location:970 → 1063

WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...

smart00570
Location:1103 → 1153

AWS; associated with SET domains

smart00317
Location:1154 → 1277

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

cd15657
Location:925 → 965

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

pfam08070
Location:688 → 758

DTHCT; DTHCT (NUC029) region

cl02554
Location:283 → 394

PWWP; The PWWP domain, named for a conserved Pro-Trp-Trp-Pro motif, is a small domain consisting of 100-150 amino acids. The PWWP domain is found in numerous proteins that are involved in cell division, growth and differentiation. Most PWWP-domain proteins ...

cl22851
Location:855 → 908

PHD_SF; PHD finger superfamily