DEFB123 (defensin beta 123)

2014-11-01 Affiliation

Identity

HGNC

DEFB123

LOCATION

20q11.21

LOCUSID

245936

ALIAS

DEFB-23,DEFB23,ESC42-RELD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 245936
MIM: 616076
HGNC: 18103
Ensembl: ENSG00000180424

Variants:

dbSNP: 245936
ClinVar: 245936
TCGA: ENSG00000180424
COSMIC: DEFB123

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180424	ENST00000376309	Q8N688

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Defensins	REACTOME	R-HSA-1461973
Beta defensins	REACTOME	R-HSA-1461957
Antimicrobial peptides	REACTOME	R-HSA-6803157

References

Pubmed ID	Year	Title	Citations
15772680	2005	Identification, characterization, and evolution of a primate beta-defensin gene cluster.	17
15772680	2005	Identification, characterization, and evolution of a primate beta-defensin gene cluster.	17

Citation

Dessen P

DEFB123 (defensin beta 123)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62409/defb123-(defensin-beta-123)