CCDC134 (coiled-coil domain containing 134)

2012-12-01 Affiliation

Identity

HGNC

CCDC134

LOCATION

22q13.2

LOCUSID

79879

ALIAS

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: 79879
MIM: 618788
HGNC: 26185
Ensembl: ENSG00000100147

Variants:

dbSNP: 79879
ClinVar: 79879
TCGA: ENSG00000100147
COSMIC: CCDC134

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100147	ENST00000255784	Q9H6E4
ENSG00000100147	ENST00000402061	B0QY51

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
36056852	2023	miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.	4
36056852	2023	miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.	4
34382738	2021	Ccdc134 deficiency impairs cerebellar development and motor coordination.	0
34382738	2021	Ccdc134 deficiency impairs cerebellar development and motor coordination.	0
32181939	2020	Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.	20
32181939	2020	Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.	20
29115376	2018	CCDC134 serves a crucial role in embryonic development.	5
29115376	2018	CCDC134 serves a crucial role in embryonic development.	5
25125657	2014	Cytokine-like molecule CCDC134 contributes to CD8⁺ T-cell effector functions in cancer immunotherapy.	8
25125657	2014	Cytokine-like molecule CCDC134 contributes to CD8⁺ T-cell effector functions in cancer immunotherapy.	8
23070808	2013	CCDC134 is down-regulated in gastric cancer and its silencing promotes cell migration and invasion of GES-1 and AGS cells via the MAPK pathway.	16
23070808	2013	CCDC134 is down-regulated in gastric cancer and its silencing promotes cell migration and invasion of GES-1 and AGS cells via the MAPK pathway.	16
22644376	2012	CCDC134 interacts with hADA2a and functions as a regulator of hADA2a in acetyltransferase activity, DNA damage-induced apoptosis and cell cycle arrest.	8
22644376	2012	CCDC134 interacts with hADA2a and functions as a regulator of hADA2a in acetyltransferase activity, DNA damage-induced apoptosis and cell cycle arrest.	8
18087676	2008	CCDC134, a novel secretory protein, inhibits activation of ERK and JNK, but not p38 MAPK.	8

Citation

Dessen P

CCDC134 (coiled-coil domain containing 134)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53097/case-report-explorer/css/lib/gene-fusions/teaching-explorer/