Genotype-phenotype correlation at codon 1740 of SETD2.

doi:10.1002/ajmg.a.61724

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Genotype-phenotype correlation at codon 1740 of SETD2.

American journal of medical genetics. Part A - 1 Sept 2020

Rabin Rachel, Radmanesh Alireza, Glass Ian A, Dobyns William B, Aldinger Kimberly A, Shieh Joseph T, Romoser Shelby, Bombei Hannah, Dowsett Leah, Trapane Pamela, Bernat John A, Baker Janice, Mendelsohn Nancy J, Popp Bernt, Siekmeyer Manuela, Sorge Ina, Sansbury Francis Hugh, Watts Patrick, Foulds Nicola C, Burton Jennifer, Hoganson George, Hurst Jane A, Menzies Lara, Osio Deborah, Kerecuk Larissa, Cobben Jan M, Jizi Khadijé, Jacquemont Sebastien, Bélanger Stacey A, Löhner Katharina, Veenstra-Knol Hermine E, Lemmink Henny H, Keller-Ramey Jennifer, Wentzensen Ingrid M, Punj Sumit, McWalter Kirsty, Lenberg Jerica, Ellsworth Katarzyna A, Radtke Kelly, Akbarian Schahram, Pappas John

Abstract excerpt

The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions. Specifically, SETD2 is associated with trimethylation of histone H3 at lysine 36 (H3K36me3) and methylation of α-tubulin at lysine 40. Heterozygous loss of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon

Share to Epigenesis, Genetic

Share to Histone-Lysine N-Methyltransferase

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Nervous System Malformations

Share to Neurodevelopmental Disorders

Share to Tubulin

Source

Open in PubMed

Identifiers

PMID: 32710489
DOI: 10.1002/ajmg.a.61724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlation at codon 1740 of SETD2.PMID 32710489Read ↗

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.Semantic proximity Read ↗

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read ↗

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.Semantic proximity Read ↗

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.Semantic proximity Read ↗

A germline SETD2 variant and malignant phyllodes tumor: extending the spectrum of SETD2-related tumor predispositionSemantic proximity Read ↗

SETting the Stage for Cancer Development: SETD2 and the Consequences of Lost Methylation.Semantic proximity Read ↗

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.Semantic proximity Read ↗

A missense SNP in the tumor suppressor SETD2 reduces H3K36me3 and mitotic spindle integrity in Drosophila.Semantic proximity Read ↗

Ehmt2 Loss-of-function Alterations Cause a Kleefstra-like SyndromeSemantic proximity Read ↗

SETD2: an epigenetic modifier with tumor suppressor functionality.Semantic proximity Read ↗

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.