HMG20B - high mobility group 20B Gene

Homo sapiens

Also known as SOXL; HMGX2; BRAF25; BRAF35; HMGXB2; PP7706; pp8857; SMARCE1r

Gene ID: 10362 | Gene type: protein coding

About HMG20B

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,572,944-3,579,083 (from NCBI)

This gene has 16 transcripts (splice variants), 190 orthologues and 20 paralogues. Ubiquitous expression in prostate (RPKM 40.0), kidney (RPKM 22.5) and 25 other tissues.

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]

HMG20B Products(1)

mRNA	Protein	Name
NM_006339.3	NP_006330.2	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21399666	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMG20B Protein Structure

HMG_box

0
100
200
317 a.a.

Protein Preferred Names

Protein Names

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

BRCA2-associated factor 35

Related Diseases

Diseases

Alias

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2

Hypophosphatemic Nephrolithiasis/Osteoporosis 2	NPHLOP2
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2	Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 2

Frontonasal Dysplasia 2

FND2	Frontonasal Dysplasia With Alopecia And Genital Anomaly
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alx4-Related Fndag
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism	Frontonasal Dysplasia Type 2
Frontonasal Dysplasia With Alopecia And Genital Abnomality	Doid:0081046
Dysplasia, Frontonasal, Type 2

Barber-Say Syndrome

Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia	Barber Say Syndrome
BBRSAY	Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia	Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome

Coffin-Siris Syndrome 9

Mrd27	CSS9
Mental Retardation, Autosomal Dominant 27	Autosomal Dominant Mental Retardation 27
Autosomal Dominant Non-Syndromic Intellectual Disability 27	Coffin-Siris Syndrome, Type 9

Hypophosphatemic Nephrolithiasis/Osteoporosis

Nephrolithiasis/Osteoporosis, Hypophosphatemic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06229	HMG20B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HMG20B	VGNC	VGNC:41708
Felis catus	HMG20B	VGNC	VGNC:67593
Mus musculus	HMG20B	MGD	MGI:1341190
Rattus norvegicus	HMG20B	RGD	RGD:1309235

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