CEP295 (centrosomal protein 295)

2014-11-01 Affiliation

Identity

HGNC

CEP295

LOCATION

11q21

LOCUSID

85459

ALIAS

KIAA1731

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: 85459
MIM: 617728
HGNC: 29366
Ensembl: ENSG00000166004

Variants:

dbSNP: 85459
ClinVar: 85459
TCGA: ENSG00000166004
COSMIC: CEP295

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000166004	ENST00000325212	Q9C0D2
ENSG00000166004	ENST00000529185	E9PM20
ENSG00000166004	ENST00000530425	E9PJG3
ENSG00000166004	ENST00000531404	E9PJY3
ENSG00000166004	ENST00000531700	Q9C0D2
ENSG00000166004	ENST00000531877	H0YDK0

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38154379	2024	Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.	0
38154379	2024	Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.	0
34418690	2021	Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.	2
34418690	2021	Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.	2
27185865	2016	CEP295 interacts with microtubules and is required for centriole elongation.	42
27562453	2016	Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole.	36
27185865	2016	CEP295 interacts with microtubules and is required for centriole elongation.	42
27562453	2016	Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole.	36
25131205	2014	Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion.	60
25131205	2014	Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion.	60
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20844083	2010	Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.	64
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20844083	2010	Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.	64

Citation

Dessen P

CEP295 (centrosomal protein 295)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61723/tumors-explorer/img/teaching-explorer/