CDIN1 (CDAN1 interacting nuclease 1)

Gene

• Entrez ID: 84529
• Gene name: CDAN1 interacting nuclease 1
• Gene symbol: CDIN1
• Synonyms (NCBI Gene): C15orf41, HH114
• Chromosome: 15
• Chromosome location: 15q14
• Summary: This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isofor

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	31191338
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	31191338
GO:0005737	Component	Cytoplasm	IEA
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IMP	31191338

Other IDs

• MIM: 615626
• HGNC: 26929
• e!Ensembl: ENSG00000186073

Protein

• UniProt ID: Q9Y2V0
• Protein name: CDAN1-interacting nuclease 1 (Protein HH114)
• Protein function: Plays a role in erythroid cell differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14811	TPD	132 → 269	Protein of unknown function TPD sequence-motif	Family

• Sequence:

  MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHH
  TSEAIESYYQRYLNGVVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSI
  INSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSF
  LDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRF
  GPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA

• Sequence length: 281

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital dyserythropoietic anemia type type 1B	Likely pathogenic	rs587777100, rs587777101, rs1595503440	RCV000083301 RCV000083302 RCV000853478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IB	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DYSERYTHROPOIETIC, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDIN1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33797837	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	23716552, 32239177, 32293259, 32518175, 33121234	Associate	★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	Anemia	CLINVAR_DG	23716552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	Anemia	UNIPROT_DG	23716552, 29885034, 31191338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	Anemia	GENOMICS_ENGLAND_DG	29885034, 9220189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	29049846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	GENOMICS_ENGLAND_DG	29885034, 9220189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	ORPHANET_DG	23716552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type III	Anemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Erythroid hyperplasia	Erythroid hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only