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

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

HMG20B Protein Structure

HMG_box

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

  • 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

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