1. Gene
  2. HMG20B - high mobility group 20B Gene

HMG20B - high mobility group 20B Gene

中文名称:高机动性组 20B

种属: Homo sapiens

同用名: SOXL; HMGX2; BRAF25; BRAF35; HMGXB2; PP7706; pp8857; SMARCE1r

基因 ID: 10362 | 基因类型: protein coding

关于 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.

功能概要

预测启用 DNA 结合活性。预计参与基因表达的调控。预计在蛋白质苏木化的负调节上游或负调节内起作用;神经元分化的正向调节;和骨骼肌细胞分化。位于核体。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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

HMG20B 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (70 - 137)

  • 0
  • 100
  • 200
  • 317 a.a.
蛋白主名 其他名称

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

BRCA2-associated factor 35

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 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