HMG20B high mobility group 20B [Homo sapiens (human)] - Gene

Summary

Official Symbol: HMG20Bprovided by HGNC
Official Full Name: high mobility group 20Bprovided by HGNC
Primary source: HGNC:HGNC:5002
See related: Ensembl:ENSG00000064961 MIM:605535; AllianceGenome:HGNC:5002
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: SOXL; HMGX2; BRAF25; BRAF35; HMGXB2; PP7706; pp8857; SMARCE1r
Summary: Predicted to enable DNA binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of protein sumoylation; positive regulation of neuron differentiation; and skeletal muscle cell differentiation. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 40.0), kidney (RPKM 22.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3572944..3579083)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3551100..3557239)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3572942..3579081)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

HMG20B stabilizes association of LSD1 with GFI1 on chromatin to confer transcription repression and leukemia cell differentiation block.
Title: HMG20B stabilizes association of LSD1 with GFI1 on chromatin to confer transcription repression and leukemia cell differentiation block.
Our data reveal a novel role for MID1 and for atypical ubiquitination in balancing BRAF35 presence, and likely its activity, within nuclear and cytoplasmic compartments
Title: The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.
Fresh insight into the mechanism by which the HMG20b-BRCA2 complex controls mitotic cell division, and implicate heterozygous HMG20b mutations affecting cytokinesis regulation in the genesis of human cancers.
Title: A cancer-associated mutation inactivates a region of the high-mobility group protein HMG20b essential for cytokinesis.
HMG20B/BRAF35 forms heterodimers with HMG20A/iBRAF. Heterodimerization impairs HMG20B/BRAF35 sumoylation and interaction with the LSD1-CoREST complex.
Title: Control of neuronal differentiation by sumoylation of BRAF35, a subunit of the LSD1-CoREST histone demethylase complex.
a novel function for HMG20b in cytokinesis is regulated by its interaction with the BRC repeats of BRCA2
Title: A mitotic function for the high-mobility group protein HMG20b regulated by its interaction with the BRC repeats of the BRCA2 tumor suppressor.
beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35
Title: The interaction with HMG20a/b proteins suggests a potential role for beta-dystrobrevin in neuronal differentiation.
we have examined Sox gene expression in 60 human primary gliomas. Transcripts from each of the six group E and group D genes were expressed in gliomas of various types and malignancy grades
Title: Expression of SoxE and SoxD genes in human gliomas.
molecular Cloning of BRAF25, an alternatively spliced protein of BRAF35
Title: Cloning a cDNA encoding an alternatively spliced protein of BRCA2-associated factor 35.
complex containing histone deacetylase complex containing histone deacetylase mediates repression of neuronal-specific genes.
Title: A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.
Results demonstrating association of BRAF35 with KIF4 through the interaction of their respective alpha-helical coiled-coil domains is unique so far in mammals.
Title: Association of human kinesin superfamily protein member 4 with BRCA2-associated factor 35.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

RH41867 (e-PCR)
- UniSTS:82313

STS-H97929 (e-PCR)
- UniSTS:15514

RH44855 (e-PCR)
- UniSTS:57785

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein sumoylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein sumoylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related

Names: BRCA2-associated factor 35; HMG box domain containing 2; HMG box-containing protein 20B; HMG domain-containing protein 2; HMG domain-containing protein HMGX2; SMARCE1-related protein; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related; Sox-like transcriptional factor; structural DNA-binding protein BRAF35

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_006339.3 → NP_006330.2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related

See identical proteins and their annotated locations for NP_006330.2

Status: VALIDATED

Source sequence(s)

AC005786, AF072836, BC003505, BI561304

Consensus CDS

CCDS45919.1

UniProtKB/Swiss-Prot

A6NMS5, D6W616, Q6IBP8, Q8NBD5, Q9HD21, Q9P0W2, Q9Y491, Q9Y4A2

UniProtKB/TrEMBL

A8K0D5

Related

ENSP00000328269.6, ENST00000333651.11

Conserved Domains (1) summary

cd01390
Location:70 → 135

HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3572944..3579083

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026144.2 → XP_016881633.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related isoform X1

UniProtKB/TrEMBL

A8K0D5

Conserved Domains (1) summary

cd01390
Location:70 → 135

HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...