DEFB121 (defensin beta 121)

2014-11-01  

Identity

HGNC
DEFB121
LOCATION
20q11.21
LOCUSID
245934
ALIAS
DEFB21,ESC42RELC

Other Information

Locus ID:

NCBI: 245934
MIM: 616075
HGNC: 18101
Ensembl: ENSG00000204548

Variants:

dbSNP: 245934
ClinVar: 245934
TCGA: ENSG00000204548
COSMIC: DEFB121

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204548ENST00000376314Q5J5C9
ENSG00000204548ENST00000376314A0A384MDM0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Beta defensinsREACTOMER-HSA-1461957
Antimicrobial peptidesREACTOMER-HSA-6803157

References

Pubmed IDYearTitleCitations
157726802005Identification, characterization, and evolution of a primate beta-defensin gene cluster.17
157726802005Identification, characterization, and evolution of a primate beta-defensin gene cluster.17

Citation

Dessen P

DEFB121 (defensin beta 121)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62407