CSF2RB

The official name of this gene is “colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage).”

CSF2RB is the gene's official symbol. The CSF2RB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

Genetics Home Reference provides information about surfactant dysfunction, which is associated with changes in the CSF2RB gene.

UniProt provides the following information about the CSF2RB gene's known or predicted involvement in human disease.

Pulmonary surfactant metabolism dysfunction 5 (SMDP5)^[1]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CSF2RB gene.

• Surfactant metabolism dysfunction, pulmonary, 5^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	614370	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
	138981	GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA

Cytogenetic Location: 22q13.1

Molecular Location on chromosome 22: base pairs 37,309,674 to 37,336,480

The CSF2RB gene is located on the long (q) arm of chromosome 22 at position 13.1.

More precisely, the CSF2RB gene is located from base pair 37,309,674 to base pair 37,336,480 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• OMIM - Genetic disorder catalog
  • GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA
  • SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

alveoli ; colony-stimulating factor ; gene ; homeostasis ; macrophage ; metabolism ; protein ; pulmonary ; receptor ; respiratory

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.