Identity
HGNC
LOCATION
19p13.12
LOCUSID
ALIAS
Aki-1,FREUD-1,Freud-1/Aki1,Lgd2,MRT3,TAPE
FUSION GENES
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)
Protein levels (Protein atlas)
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
