PROX2 - prospero homeobox 2 Gene

Also Known as PROX-2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 283571

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

関連疾患

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

生物種 Symbol 由来 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
Others PROX2 NCBI