CC2D1A (coiled-coil and C2 domain containing 1A)

2011-08-01 Affiliation

Identity

HGNC

CC2D1A

LOCATION

19p13.12

LOCUSID

54862

ALIAS

Aki-1,FREUD-1,Freud-1/Aki1,Lgd2,MRT3,TAPE

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: 54862
MIM: 610055
HGNC: 30237
Ensembl: ENSG00000132024

Variants:

dbSNP: 54862
ClinVar: 54862
TCGA: ENSG00000132024
COSMIC: CC2D1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132024	ENST00000318003	Q6P1N0
ENSG00000132024	ENST00000586955	K7EJY5
ENSG00000132024	ENST00000587508	K7EMP1
ENSG00000132024	ENST00000589606	Q6P1N0

Expression (GTEx)

100

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
33287601	2022	Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.	2
36273889	2022	Effects of the Cc2d1a/Freud-1 Knockdown in the Hippocampus of BTBR Mice on the Autistic-Like Behavior, Expression of Serotonin 5-HT(1A) and D2 Dopamine Receptors, and CREB and NF-kB Intracellular Signaling.	1
33287601	2022	Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.	2
36273889	2022	Effects of the Cc2d1a/Freud-1 Knockdown in the Hippocampus of BTBR Mice on the Autistic-Like Behavior, Expression of Serotonin 5-HT(1A) and D2 Dopamine Receptors, and CREB and NF-kB Intracellular Signaling.	1
33034024	2021	Unravelling of Hidden Secrets: The Tumour Suppressor Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer.	6
33034024	2021	Unravelling of Hidden Secrets: The Tumour Suppressor Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer.	6
33196317	2020	Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.	5
33196317	2020	Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.	5
26782176	2016	The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.	6
27769858	2016	CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4.	5
26782176	2016	The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders.	6
27769858	2016	CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4.	5
26294214	2015	Akt Kinase-Interacting Protein 1 Signals through CREB to Drive Diffuse Malignant Mesothelioma.	13
26294214	2015	Akt Kinase-Interacting Protein 1 Signals through CREB to Drive Diffuse Malignant Mesothelioma.	13
25036909	2014	Expression of Akt kinase-interacting protein 1, a scaffold protein of the PI3K/PDK1/Akt pathway, in pancreatic cancer.	5

Citation

Dessen P

CC2D1A (coiled-coil and C2 domain containing 1A)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52323/cc2d1a-(coiled-coil-and-c2-domain-containing-1a)