2. Gene
  3. HMGB3 - high mobility group box 3 Gene

HMGB3 - high mobility group box 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：高机动性组框 3

种属: Homo sapiens

同用名: HMG4; HMG-4; HMG2A; HMG-2a

基因 ID: 3149 | 基因类型: protein coding

关于 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.

功能概要

该基因编码含有一个或多个高迁移率基团 DNA 结合基序的蛋白质家族成员。编码的蛋白质在维持干细胞群中起重要作用，并可能在肿瘤细胞中异常表达。该基因的突变与小眼症 13 综合征有关。该基因在多条染色体上有许多假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

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 基因产物(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

HMGB3 蛋白结构

HMG_box_2

HMG_box_2: HMG-box domain (6 - 78)

HMG_box

HMG_box: HMG (high mobility group) box (93 - 161)

  • 0
  • 100
  • 200 a.a.
蛋白主名 其他名称

high mobility group protein B3

high mobility group protein 2a

重组 HMGB3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70199 HMGB3/HMG-3 Protein, Human (HEK293, His) O15347 (M1-E200) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06234 HMGB3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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