1. Gene
  2. PROX2 - prospero homeobox 2 Gene

PROX2 - prospero homeobox 2 Gene

Homo sapiens

Also known as PROX-2

Gene ID: 283571 | Gene type: protein coding

About PROX2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:74,853,033-74,876,145 (from NCBI)

This gene has 3 transcripts (splice variants), 263 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PROX2 Products(3)

mRNA Protein Name
NM_001080408.3 NP_001073877.2 prospero homeobox protein 2 isoform 2
NM_001243007.2 NP_001229936.1 prospero homeobox protein 2 isoform 1
NM_001384314.1 NP_001371243.1 prospero homeobox protein 2 isoform 1

PROX2 Protein Structure

HPD

HPD: Homeo-prospero domain (439 - 590)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 592 a.a.
Protein Preferred Names Protein Names

prospero homeobox protein 2

homeobox prospero-like protein PROX2

Related Diseases

Diseases Alias
Atrial Septal Defect 6

ASD6

Atrial Heart Septal Defect 6

Septal Defect, Atrial, Type 6

Atrial Septal Defect 5

ASD5

Atrial Heart Septal Defect 5

Septal Defect, Atrial, Type 5

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

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
Macaca mulatta PROX2 VGNC VGNC:99228
Canis familiaris PROX2 VGNC VGNC:45018
Mus musculus PROX2 MGD MGI:1920672
Bos taurus PROX2 VGNC VGNC:33370
Felis catus PROX2 VGNC VGNC:64368
Rattus norvegicus PROX2 RGD RGD:1310315