CDAN1

Summary

CDAN1 (codanin 1, HGNC:1713) is a protein-coding gene on chromosome 15q15.2, encoding Codanin-1 (Q8IWY9). May act as a negative regulator of ASF1 in chromatin assembly. It is a selective cancer dependency (DepMap: 76.7% of cell lines).

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 functional abnormalities of erythropoiesis.

Source: NCBI Gene 146059 — RefSeq curated summary.

At a glance

• Gene–disease (curated): anemia, congenital dyserythropoietic, type 1a (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 926 total — 33 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 22
• Cancer dependency (DepMap): dependent in 76.7% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_138477

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1713
Approved symbol	CDAN1
Name	codanin 1
Location	15q15.2
Locus type	gene with protein product
Status	Approved
Aliases	CDA-I, CDAI
Ensembl gene	ENSG00000140326
Ensembl biotype	protein_coding
OMIM	607465
Entrez	146059

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000356231, ENST00000562465, ENST00000563260, ENST00000563604, ENST00000565930, ENST00000643434, ENST00000913682, ENST00000913683, ENST00000913684, ENST00000959718

RefSeq mRNA: 1 — MANE Select: NM_138477 NM_138477

CCDS: CCDS32209

Canonical transcript exons

ENST00000356231 — 28 exons

Exon	Start	End
ENSE00000942482	42732333	42732408
ENSE00000942483	42731620	42731825
ENSE00000942484	42731211	42731331
ENSE00000942485	42730925	42731071
ENSE00000942486	42730598	42730764
ENSE00000942487	42730128	42730215
ENSE00000942488	42729796	42729885
ENSE00000942489	42729568	42729622
ENSE00000942490	42729229	42729362
ENSE00000942491	42729023	42729126
ENSE00000942492	42728652	42728810
ENSE00000942493	42728204	42728267
ENSE00000942494	42727955	42728033
ENSE00000942495	42727621	42727769
ENSE00001293214	42735100	42735178
ENSE00001294011	42735510	42735679
ENSE00001300052	42733938	42734047
ENSE00001306264	42734226	42734346
ENSE00001307325	42735261	42735374
ENSE00001313769	42733097	42733186
ENSE00001430111	42735875	42736078
ENSE00001431285	42736302	42736780
ENSE00002606165	42737013	42737128
ENSE00002625842	42723544	42724616
ENSE00003476318	42725144	42725251
ENSE00003502091	42726310	42726417
ENSE00003562467	42725489	42725670
ENSE00003681297	42726097	42726160

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 87.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6408 / max 132.9220, expressed in 1765 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149570	8.5949	1765
149569	0.0459	15

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	87.89	gold quality
sural nerve	UBERON:0015488	87.75	gold quality
left ovary	UBERON:0002119	87.33	gold quality
right ovary	UBERON:0002118	87.08	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.73	gold quality
cerebellar hemisphere	UBERON:0002245	84.56	gold quality
ovary	UBERON:0000992	84.54	gold quality
cerebellar cortex	UBERON:0002129	84.44	gold quality
endocervix	UBERON:0000458	84.27	gold quality
body of uterus	UBERON:0009853	83.63	gold quality
cerebellum	UBERON:0002037	83.55	gold quality
lower esophagus mucosa	UBERON:0035834	83.48	gold quality
left testis	UBERON:0004533	83.40	gold quality
ganglionic eminence	UBERON:0004023	83.25	gold quality
right testis	UBERON:0004534	83.12	gold quality
right uterine tube	UBERON:0001302	82.73	gold quality
mucosa of stomach	UBERON:0001199	82.71	gold quality
ectocervix	UBERON:0012249	82.62	gold quality
right adrenal gland cortex	UBERON:0035827	82.57	gold quality
granulocyte	CL:0000094	82.47	gold quality
right adrenal gland	UBERON:0001233	82.46	gold quality
tibial nerve	UBERON:0001323	82.18	gold quality
prostate gland	UBERON:0002367	82.10	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.04	gold quality
ascending aorta	UBERON:0001496	81.90	gold quality
thoracic aorta	UBERON:0001515	81.85	gold quality
testis	UBERON:0000473	81.77	gold quality
left adrenal gland cortex	UBERON:0035825	81.59	gold quality
left adrenal gland	UBERON:0001234	81.56	gold quality
pituitary gland	UBERON:0000007	81.35	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, SSRP1

miRNA regulators (miRDB)

52 targeting CDAN1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-1295B-5P	99.03	67.50	810

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 76.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 16)

• Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1 (PMID:12434312)
• codanin-1 may play a role in the development of the skeleton. (PMID:16767397)
• This second case of retinal angioid streaks in CDA I reports a patient homozygous for the Arg1042Trp mutation in codanin-1. (PMID:18081704)
• Congenital dyserythropoietic anemia I (CDA I) is a well-defined entity within the heterogeneous group of the CDAN1 family; here it is associated with mutations in a Chinese family. (PMID:18575862)
• Data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase. (PMID:19336738)
• A link between mutant codanin-1 and the aberrant localization of HP1 alpha is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1 alpha antibodies erythroblasts from patients with congenital dyserythropoietic anemia type 1. (PMID:21364188)
• The authors propose that Codanin-1 acts as a negative regulator of Asf1 function in chromatin assembly. (PMID:22407294)
• The missense substitution in CDAN1, C15ORF41, encodes a novel restriction endonuclease in congenital dyserythropoietic anemia type I. (PMID:23716552)
• The proband with congenital dyserythropoietic anemia Iota in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T. (PMID:24196372)
• Mutation in CDAN1 gene is associated with congenital dyserythropoietic anemia. (PMID:29031773)
• Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. (PMID:30786798)
• Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. (PMID:32293259)
• Genetic and functional insights into CDA-I prevalence and pathogenesis. (PMID:32518175)
• Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation. (PMID:33075436)
• [Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis]. (PMID:35012925)
• Discovering a novel pathogenic CDAN1 variant using exome sequencing and bioinformatics analysis. (PMID:37603059)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cdan1	ENSMUSG00000027284
rattus_norvegicus	Cdan1	ENSRNOG00000047427

Protein

Protein identifiers

Codanin-1 — Q8IWY9 (reviewed: Q8IWY9)

All UniProt accessions (4): Q8IWY9, A0A2R8Y5C2, H3BM60, H3BPZ6

UniProt curated annotations — full annotation on UniProt →

Function. May act as a negative regulator of ASF1 in chromatin assembly.

Subunit / interactions. Found in a cytosolic complex with ASF1A, ASF1B, IPO4 and histones H3.1 and H4.

Subcellular location. Cytoplasm. Nucleus. Membrane.

Tissue specificity. Ubiquitously expressed. Isoform 3 is not found in erythroid cells.

Disease relevance. Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IWY9-2	2	yes
Q8IWY9-1	1
Q8IWY9-3	3

RefSeq proteins (1): NP_612486* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028171	Codanin-1_C	Domain
IPR040031	Codanin-1	Family

Pfam: PF15296

UniProt features (42 total): sequence conflict 14, sequence variant 12, modified residue 4, compositionally biased region 4, splice variant 2, transmembrane region 2, region of interest 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9CVC	ELECTRON MICROSCOPY	3.5
9IMZ	ELECTRON MICROSCOPY	3.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWY9-F1	72.58	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 2, 71, 265, 285

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, SP3_Q3, FOXD3_01, GOBP_NUCLEAR_TRANSPORT, HFH8_01, FOXJ2_01, HFH4_01, HFH3_01, AFP1_Q6, HNF1_01, FREAC7_01, XU_GH1_EXOGENOUS_TARGETS_UP, NUYTTEN_EZH2_TARGETS_DN, TAATTA_CHX10_01, TEF_Q6

GO Biological Process (3): chromatin organization (GO:0006325), intracellular protein localization (GO:0008104), import into nucleus (GO:0051170)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular component organization	1
macromolecule localization	1
nucleocytoplasmic transport	1
intercellular transport	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDAN1	SEC23B	Q15437	945
CDAN1	CDIN1	Q9Y2V0	904
CDAN1	STRC	Q7RTU9	803
CDAN1	CATSPER2	Q96P56	789
CDAN1	KLF1	Q13351	742
CDAN1	EPB42	P16452	741
CDAN1	IPO4	Q8TEX9	684
CDAN1	ASF1B	Q9NVP2	617
CDAN1	KIF23	Q02241	598
CDAN1	ASF1A	Q9Y294	587
CDAN1	SYN3	O14994	558
CDAN1	MAP1B	P46821	548
CDAN1	SYN2	Q92777	506
CDAN1	NT5C3A	Q9H0P0	475
CDAN1	ALAS2	P22557	452

IntAct

23 interactions, top by confidence:

A	B	Type	Score
CDAN1	ASF1B	psi-mi:“MI:0914”(association)	0.800
ASF1A	HAT1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
TULP3	GGPS1	psi-mi:“MI:0914”(association)	0.640
ASF1A	MCM4	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ASF1A	CDAN1	psi-mi:“MI:0914”(association)	0.350
MAMDC2	CDAN1	psi-mi:“MI:0914”(association)	0.350
HTR1E	ESYT2	psi-mi:“MI:0914”(association)	0.350
RIC3	QSOX1	psi-mi:“MI:0914”(association)	0.350
RPL28	LEFTY2	psi-mi:“MI:0914”(association)	0.350
UXS1	PDE2A	psi-mi:“MI:0914”(association)	0.350
MFSD9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
CDAN1	IPO4	psi-mi:“MI:0914”(association)	0.350
ASF1B	CDAN1	psi-mi:“MI:0915”(physical association)	0.000
PDPK1	CDAN1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (51): CDAN1 (Proximity Label-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), CDAN1 (Affinity Capture-MS), ASF1A (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), HIRA (Affinity Capture-MS), UBN2 (Affinity Capture-MS), TLK2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNQ6, A6NC42, A6NGQ2, A6NGR9, A6QP75, A7E3N7, A9X185, E1BDF2, E9PGG2, F6SZT2, P0C7A0, P85965, Q06VW1, Q0ZFW8, Q14DK4, Q3UK37, Q3UV16, Q3ZBN4, Q400G9, Q4VXA5, Q587J8, Q5JSQ8, Q60953, Q60I26, Q60I27, Q6NUI2, Q6ZUX3, Q810I0, Q8BH06, Q8C0R7, Q8IWB1, Q8IWY9, Q8IYX4, Q8K4C2, Q8N6L0, Q8N7F7, Q8NCV1, Q8TE82, Q91WA6, Q95JV3

Diamond homologs: Q8CC12, Q8IWY9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

926 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	33
Likely pathogenic	26
Uncertain significance	427
Likely benign	290
Benign	50

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069028	NM_138477.4(CDAN1):c.3243C>A (p.Cys1081Ter)	Pathogenic
1322044	NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs)	Pathogenic
1322045	NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs)	Pathogenic
1703721	NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)	Pathogenic
1914077	NM_138477.4(CDAN1):c.3025dup (p.Glu1009fs)	Pathogenic
2005367	NM_138477.4(CDAN1):c.2708_2711dup (p.Gln904fs)	Pathogenic
2017339	NM_138477.4(CDAN1):c.699_702dup (p.Pro235Ter)	Pathogenic
2118494	NM_138477.4(CDAN1):c.2557dup (p.Ala853fs)	Pathogenic
2131784	NM_138477.4(CDAN1):c.1036_1040del (p.Glu346fs)	Pathogenic
2132828	NM_138477.4(CDAN1):c.3062dup (p.Pro1022fs)	Pathogenic
2419482	NM_138477.4(CDAN1):c.2868+1G>A	Pathogenic
2427244	NC_000015.9:g.(?43016689)(43398220_?)del	Pathogenic
2582929	NM_138477.4(CDAN1):c.2992C>T (p.Arg998Ter)	Pathogenic
2864514	NM_138477.4(CDAN1):c.2809_2812del (p.Cys937fs)	Pathogenic
2920867	NM_138477.4(CDAN1):c.1596dup (p.Met533fs)	Pathogenic
2920943	NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)	Pathogenic
3180	NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile)	Pathogenic
3182	NM_138477.4(CDAN1):c.1117_1119del (p.Val373del)	Pathogenic
3577121	NM_138477.4(CDAN1):c.2044C>T (p.Arg682Ter)	Pathogenic
3616156	NM_138477.4(CDAN1):c.2681_2682del (p.Glu894fs)	Pathogenic
3644009	NM_138477.4(CDAN1):c.376_379del (p.Gly126fs)	Pathogenic
3659162	NM_138477.4(CDAN1):c.2313T>G (p.Tyr771Ter)	Pathogenic
3686596	NM_138477.4(CDAN1):c.3332_3339del (p.Arg1111fs)	Pathogenic
4698357	NC_000015.10:g.42730757_42730765del	Pathogenic
4711926	NM_138477.4(CDAN1):c.3044_3066del (p.Arg1015fs)	Pathogenic
4727451	NM_138477.4(CDAN1):c.3096del (p.Asp1033fs)	Pathogenic
4731553	NM_138477.4(CDAN1):c.412del (p.Glu138fs)	Pathogenic
4766326	NM_138477.4(CDAN1):c.1793_1794insTGCCCTGGCTTGAAGAT (p.Leu598_Asn599insAlaLeuAlaTer)	Pathogenic
4773903	NM_138477.4(CDAN1):c.1647dup (p.Met550fs)	Pathogenic
4779249	NM_138477.4(CDAN1):c.3175C>T (p.Gln1059Ter)	Pathogenic

SpliceAI

4161 predictions. Top by Δscore:

Variant	Effect	Δscore
15:42724626:A:C	acceptor_gain	1.0000
15:42725142:ACC:A	donor_gain	1.0000
15:42725143:CCC:C	donor_gain	1.0000
15:42725248:CCCA:C	acceptor_gain	1.0000
15:42725249:CCA:C	acceptor_gain	1.0000
15:42725249:CCAC:C	acceptor_gain	1.0000
15:42725250:CAC:C	acceptor_gain	1.0000
15:42725252:C:CC	acceptor_gain	1.0000
15:42725484:CTCA:C	donor_loss	1.0000
15:42725485:TCA:T	donor_loss	1.0000
15:42725486:CAC:C	donor_loss	1.0000
15:42725487:ACCT:A	donor_gain	1.0000
15:42725487:ACCTC:A	donor_gain	1.0000
15:42725488:CCTC:C	donor_gain	1.0000
15:42725488:CCTCC:C	donor_gain	1.0000
15:42725491:C:A	donor_gain	1.0000
15:42725671:C:CC	acceptor_gain	1.0000
15:42726305:CTCA:C	donor_loss	1.0000
15:42726306:TCAC:T	donor_loss	1.0000
15:42726307:CACCT:C	donor_loss	1.0000
15:42726308:A:AC	donor_gain	1.0000
15:42726309:C:CC	donor_gain	1.0000
15:42726309:CCTGG:C	donor_gain	1.0000
15:42726413:ACGTC:A	acceptor_gain	1.0000
15:42726414:CGTC:C	acceptor_gain	1.0000
15:42726414:CGTCC:C	acceptor_gain	1.0000
15:42726415:GTC:G	acceptor_gain	1.0000
15:42726415:GTCC:G	acceptor_loss	1.0000
15:42726416:TC:T	acceptor_gain	1.0000
15:42726416:TCC:T	acceptor_loss	1.0000

AlphaMissense

7875 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:42729064:G:C	F868L	0.999
15:42729064:G:T	F868L	0.999
15:42729066:A:G	F868L	0.999
15:42730689:A:G	W695R	0.999
15:42730689:A:T	W695R	0.999
15:42731311:A:G	L587P	0.999
15:42733946:C:A	K453N	0.999
15:42733946:C:G	K453N	0.999
15:42733958:A:C	F449L	0.999
15:42733958:A:T	F449L	0.999
15:42733960:A:G	F449L	0.999
15:42733976:G:C	F443L	0.999
15:42733976:G:T	F443L	0.999
15:42733978:A:G	F443L	0.999
15:42734006:A:C	F433L	0.999
15:42734006:A:T	F433L	0.999
15:42734008:A:G	F433L	0.999
15:42729065:A:C	F868C	0.998
15:42729065:A:G	F868S	0.998
15:42733186:C:A	R456S	0.998
15:42733186:C:G	R456S	0.998
15:42733938:C:A	R456M	0.998
15:42733977:A:G	F443S	0.998
15:42734007:A:C	F433C	0.998
15:42736058:A:G	I197T	0.998
15:42736698:C:A	R58M	0.998
15:42729035:A:T	V878D	0.997
15:42729060:C:G	A870P	0.997
15:42733938:C:G	R456T	0.997
15:42733949:A:C	F452L	0.997

dbSNP variants (sampled 300 via entrez): RS1000018091 (15:42730789 G>A,C), RS1000279491 (15:42726303 A>T), RS1000891073 (15:42728553 A>C,G), RS1001103522 (15:42723723 T>C), RS1001364434 (15:42729927 C>A,G,T), RS1001376397 (15:42734600 G>A,C,T), RS1001471030 (15:42733857 A>G,T), RS1001502056 (15:42733644 A>G), RS1001570196 (15:42725354 G>C), RS1001839056 (15:42735013 GTT>G), RS1002473760 (15:42732608 T>C), RS1002844968 (15:42736917 G>A,C), RS1003004691 (15:42738329 T>C), RS1003131596 (15:42738221 G>C), RS1003162579 (15:42738066 C>G)

Disease associations

OMIM: gene MIM:607465 | disease phenotypes: MIM:224120

GenCC curated gene-disease

Disease	Classification	Inheritance
anemia, congenital dyserythropoietic, type 1a	Definitive	Autosomal recessive
congenital dyserythropoietic anemia type 1	Supportive	Autosomal recessive
congenital dyserythropoietic anemia	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
anemia, congenital dyserythropoietic, type 1a	Definitive	AR

Mondo (4): anemia, congenital dyserythropoietic, type 1a (MONDO:0009135), congenital dyserythropoietic anemia type 1 (MONDO:0020337), congenital anemia (MONDO:0000577), congenital dyserythropoietic anemia (MONDO:0019403)

Orphanet (1): Congenital dyserythropoietic anemia type I (Orphanet:98869)

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001159	Syndactyly
HP:0001518	Small for gestational age
HP:0001530	Mild postnatal growth retardation
HP:0001744	Splenomegaly
HP:0001789	Hydrops fetalis
HP:0001878	Hemolytic anemia
HP:0001923	Reticulocytosis
HP:0001981	Schistocytosis
HP:0002240	Hepatomegaly
HP:0002904	Hyperbilirubinemia
HP:0003352	Endopolyploidy on chromosome studies of bone marrow
HP:0003577	Congenital onset
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II
HP:0004447	Poikilocytosis
HP:0005532	Macrocytic dyserythropoietic anemia
HP:0006579	Prolonged neonatal jaundice
HP:0010972	Anemia of inadequate production
HP:0011273	Anisocytosis
HP:0012132	Erythroid hyperplasia
HP:0020122	Bite cells
HP:0025435	Increased circulating lactate dehydrogenase concentration

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000189_19	Protein quantitative trait loci	5.000000e-07
GCST003031_1	MGMT methylation in smokers	3.000000e-07
GCST008103_43	Bipolar disorder	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006959	gene methylation measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D000742	Anemia, Dyserythropoietic, Congenital	C15.378.050.141.150.095; C16.320.070.095

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
pirinixic acid	increases expression, affects binding, increases activity	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
sodium arsenate	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	decreases methylation	1
cupric chloride	increases expression	1
chloropicrin	increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
jinfukang	increases expression, affects cotreatment	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Cadmium Chloride	decreases expression	1
Palmitic Acid	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_XM63	HAP1 CDAN1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

7 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01795794	PHASE4	UNKNOWN	Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC
NCT07471516	PHASE1/PHASE2	RECRUITING	Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia
NCT02964494	Not specified	RECRUITING	The Congenital Dyserythropoietic Anemia Registry (CDAR)
NCT03983629	Not specified	UNKNOWN	Registry of Congenital Dyserythropoietic Anemia
NCT06213402	Not specified	RECRUITING	RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
NCT07206095	Not specified	RECRUITING	Integrative Diagnosis for SCD and Other RADs
NCT00658385	Not specified	COMPLETED	Assess the Feasibility and Safety of Granulocyte Colony Stimulating Factor (GCSF) Mobilization of CD34+ Hematopoietic Progenitor Cells in Patients With Betathalassemia Major