1. Gene
  2. MXD4 - MAX dimerization protein 4 Gene

MXD4 - MAX dimerization protein 4 Gene

Homo sapiens

Also known as MAD4; MST149; MSTP149; bHLHc12

Gene ID: 10608 | Gene type: protein coding

About MXD4

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,247,432-2,262,109 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 22.9), spleen (RPKM 18.5) and 25 other tissues.

Summary

This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]

MXD4 Products(1)

mRNA Protein Name
NM_006454.3 NP_006445.1 max dimerization protein 4

MXD4 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (55 - 106)

  • 0
  • 100
  • 209 a.a.
Protein Preferred Names Protein Names

max dimerization protein 4

Mad4 homolog

Related Diseases

Diseases Alias
Extracranial Neuroblastoma
Bladder Sarcoma

Sarcoma Of Bladder

Sarcoma Of The Urinary Bladder

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma

Nmc

Cerebellar Medulloblastoma
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
Felis catus MXD4 VGNC VGNC:107351
Mus musculus MXD4 MGD MGI:104991
Macaca mulatta MXD4 VGNC VGNC:100251
Bos taurus MXD4 VGNC VGNC:31772
Canis familiaris MXD4 VGNC VGNC:43514
Rattus norvegicus MXD4 RGD RGD:1305093