CDAN1 (codanin 1)

2014-11-01  

Identity

HGNC
LOCATION
15q15.2
LOCUSID
ALIAS
CDA1,CDAI,CDAN1A,DLT,PRO1295
FUSION GENES

Other Information

Locus ID:

NCBI: 146059
MIM: 607465
HGNC: 1713
Ensembl: ENSG00000140326

Variants:

dbSNP: 146059
ClinVar: 146059
TCGA: ENSG00000140326
COSMIC: CDAN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140326ENST00000356231Q8IWY9
ENSG00000140326ENST00000562465H3BM60
ENSG00000140326ENST00000563260H3BPZ6
ENSG00000140326ENST00000643434A0A2R8Y5C2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
224072942012Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.30
124343122002Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.27
237165522013Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.19
213641882011Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.16
180817042008Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).6
193367382009Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.6
167673972006Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.4
185758622008Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.4
290317732018Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.2
241963722014Congenital dyserythropoietic anemia in China: a case report from two families and a review.1

Citation

Dessen P

CDAN1 (codanin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61629/cdan1-(codanin-1)