HMGB3 - high mobility group box 3 Gene

Homo sapiens

Also known as HMG4; HMG-4; HMG2A; HMG-2a

Gene ID: 3149 | Gene type: protein coding

About HMGB3

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,980,507-150,990,771 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues, 20 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 24.9), bone marrow (RPKM 7.8) and 21 other tissues.

Summary

This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HMGB3 Products(4)

mRNA	Protein	Name
NM_001301228.2	NP_001288157.1	high mobility group protein B3 isoform a
NM_001301229.2	NP_001288158.1	high mobility group protein B3 isoform a
NM_001301231.2	NP_001288160.1	high mobility group protein B3 isoform b
NM_005342.4	NP_005333.2	high mobility group protein B3 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	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

HMGB3 Protein Structure

HMG_box_2

HMG_box

0
100
200 a.a.

Protein Preferred Names

Protein Names

high mobility group protein B3

high mobility group protein 2a

Recombinant HMGB3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70199	HMGB3/HMG-3 Protein, Human (HEK293, His)	O15347 (M1-E200)	≥95%

Related Diseases

Diseases

Alias

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome	MCOPS13
Maine Microphthalmos	Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation
Syndromic Microphthalmia 13	X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome
Microphthalmia, Syndromic, 13	Microphthalmia, Syndromic, Type 13

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects	Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Todpd	TOD
Odpd	Odpf Syndrome
Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula	Odpf
Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula	Terminal Osseous Dysplasia With Pigmentary Defects
Dcd	Digitocutaneous Dysplasia
Terminal Osseous Dysplasia And Pigmentary Defect Syndrome	Osseous Dysplasia And Pigmentary Defects

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS06234	HMGB3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HMGB3	MGD	MGI:1098219
Rattus norvegicus	HMGB3	RGD	RGD:1564407
Canis familiaris	HMGB3	VGNC	VGNC:54164
Others	HMGB3	NCBI

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