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.	21
23575228	2013	CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.	21

Citation

Dessen P

CEP89 (centrosomal protein 89)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55058/cep89-(centrosomal-protein-89)