CEP89 (centrosomal protein 89)

2014-11-01 Affiliation

Identity

HGNC

CEP89

LOCATION

19q13.11

LOCUSID

84902

ALIAS

CCDC123,CEP123

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: 84902
MIM: 615470
HGNC: 25907
Ensembl: ENSG00000121289

Variants:

dbSNP: 84902
ClinVar: 84902
TCGA: ENSG00000121289
COSMIC: CEP89

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000121289	ENST00000305768	Q96ST8
ENSG00000121289	ENST00000586984	K7EJF0
ENSG00000121289	ENST00000590597	A0A0C4DGP8
ENSG00000121289	ENST00000591698	K7EPU8
ENSG00000121289	ENST00000591863	A0A087WXS8
ENSG00000121289	ENST00000593276	K7EQI2

Expression (GTEx)

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
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912

References

Pubmed ID	Year	Title	Citations
23575228	2013	CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.	14

Citation

Dessen P

CEP89 (centrosomal protein 89)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55058/cep89