Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146059
Gene name Gene Name - the full gene name approved by the HGNC.
Codanin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDAN1
Synonyms (NCBI Gene) Gene synonyms aliases
CDA1, CDAI, CDAN1A, DLT, PRO1295
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functiona
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80338694 G>A,C Likely-pathogenic, pathogenic Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs80338696 G>A Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs80338697 G>A,C,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs80338699 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs113313967 C>T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047385 hsa-miR-34a-5p CLASH 23622248
MIRT037638 hsa-miR-744-5p CLASH 23622248
MIRT876699 hsa-miR-106a CLIP-seq
MIRT876700 hsa-miR-106b CLIP-seq
MIRT876701 hsa-miR-1200 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
E2F1 Unknown 19336738
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22407294
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21364188, 22407294
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 22407294
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607465 1713 ENSG00000140326
Protein
UniProt ID Q8IWY9
Protein name Codanin-1
Protein function May act as a negative regulator of ASF1 in chromatin assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15296 Codanin-1_C 784 899 Codanin-1 C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 3 is not found in erythroid cells. {ECO:0000269|PubMed:12434312}.
Sequence
MAAVLESLLREEVSVAAVVRWIARSTQGSEDNAGEAAALSSLRALRKEFVPFLLNFLREQ
SSRVLPQGPPTPAKTPGASAALPGRPGGPPRGSRGARSQLFPPTEAQSTAAEAPLARRGG
RRRGPGPARERGGRGLEEGVSGESLPGAGGRRLRGSGSPSRPSLTLSDPPNLSNLEEFPP
VGSVPPGPTGTKPSRRINPTPVSEERSLSKPKTCFTSPPISCVPSSQPSALDTSPWGLGL
PPGCRSLQEEREMLRKERSKQLQQSPTPTCPTPELGSPLPSRTGSLTDEPADPARVSSRQ
RLELVALVYSSCIAENLVPNLFLELFFVFQLLTARRMVTAKDSDPELSPAVLDSLESPLF
QSIHDCVFFAVQVLECHFQVLSNLDKGTLKLLAENERLLCFSPALQGRLRAAYEGSVAKV
SLVMPPSTQAVSFQPETDNRANFSSDRAFHTFKKQRDVFYEVLREWEDHHEEPGWDFEKG
LGSRIRAMMGQLSAACSHSHFVRLFQKQLLQMCQSPGGAGGTVLGEAPDVLSMLGADKLG
RLWRLQERLMAPQSSGGPCPPPTFPGCQGFFRDFILSASSFQFNQHLMDSLSLKIQELNG
LALPQHEPNDEDGESDVDWQGERKQFAVVLLSLRLLAKFLGFVAFLPYRGPEPPPTGELQ
DSILALRSQVPPVLDVRTLLQRGLQARRAVLTVPWLVEFLSFADHVVPLLEYYRDIFTLL
LRLHRSLVLSQESEGKMCFLNKLLLLAVLGWLFQIPTVPEDLFFLEEGPSYAFEVDTVAP
EHGLDNAPVVDQQLLYTCCPYIGELRKLLASWVSGSSGRSGGFMRKITPTTTTSLGAQPS
QTSQGLQAQLAQAFFHNQPPSLRRTVEFVAERIGSNCVKHIKATLVADLVRQAESLLQE
Q
LVTQGEEGGDPAQLLEILCSQLCPHGAQALALGREFCQRKSPGAVRALLPEETPAAVLSS
AENIAVGLATEKACAWLSANITALIRREVKAAVSRTLRAQGPEPAARGERRGCSRACEHH
APLPSHLISEIKDVLSLAVGPRDPDEGVSPEHLEQLLGQLGQTLRCRQFLCPPAEQHLAK
CSVELASLLVADQIPILGPPAQYRLERGQARRLLHMLLSLWKEDFQGPVPLQLLLSPRNV
GLLADTRPREWDLLLFLLRELVEKGLMGRMEIEACLGSLHQAQWPGDFAEELATLSNLFL
AEPHLPEPQLRACELVQPNRGTVLAQS
Sequence length 1227
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anemia Anemia, congenital dyserythropoietic, type 1a rs120074166, rs1336651679, rs120074167, rs80338694, rs80338697, rs80338696, rs80338699 N/A
Congenital dyserythropoietic anemia congenital dyserythropoietic anemia, type i rs120074166, rs140334403, rs120074167, rs120074168, rs120074169, rs80338697, rs80338694, rs80338696, rs80338699, rs138334226 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22407294
Anemia Associate 33401150
Anemia Diamond Blackfan Associate 12434312
Anemia Dyserythropoietic Congenital Associate 12434312, 16098079, 16141353, 19336738, 22407294, 22504250, 23716552, 29599085, 32160409, 32239177, 32293259, 32518175, 33075436, 33121234, 33401150
Anemia Dyserythropoietic Congenital Stimulate 9345103
Anemia Hemolytic Associate 33401150
Anemia Macrocytic Associate 29599085
Bone Diseases Associate 16098079
Corneal dystrophy Avellino type Associate 33401150
Gallstones Associate 16141353