CHRDL2 (chordin like 2)

Gene

• Entrez ID: 25884
• Gene name: Chordin like 2
• Gene symbol: CHRDL2
• Synonyms (NCBI Gene): BNF1, CHL2
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017465	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0036122	Function	BMP binding	IBA
GO:0048731	Process	System development	IEA
GO:0051216	Process	Cartilage development	IEA

Other IDs

• MIM: 613127
• HGNC: 24168
• e!Ensembl: ENSG00000054938

Protein

• UniProt ID: Q6WN34
• Protein name: Chordin-like protein 2 (Breast tumor novel factor 1) (BNF-1) (Chordin-related protein 2)
• Protein function: May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	33 → 95	von Willebrand factor type C domain	Family
  PF00093	VWC	111 → 174	von Willebrand factor type C domain	Family
  PF00093	VWC	252 → 314	von Willebrand factor type C domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in uterus. Moderately expressed in heart, liver, prostate, testis and ovary. Weakly expressed in skeletal muscle, kidney, spleen, small intestine and colon. Expressed in the secretory epithelial cells of uterine endome
• Sequence:

  MVPEVRVLSSLLGLALLWFPLDSHARARPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLR
  CTCSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQH
  GEIFSAHELFPSRLPNQCVLCSCTEGQIYCGLTTCPEPGCPAPLPLPDSCCQACKDEASE
  QSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTV
  KIVLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPC
  RHPEKVAGKCCKICPEDKADPGHSEISSTRCPKAPGRVLVHTSVSPSPDNLRRFALEHEA
  SDLVEIYLWKLVKGIFHLTQIKKVRKQDFQKEAQHFRLLAGPHEGHWNVFLAQTLELKVT
  ASPDKVTKT

• Sequence length: 429

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35126952	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12853144		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28009989		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17519223		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12853144		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31831043		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28009989		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28500669		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25575966	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33245175	Stimulate	★☆☆☆☆ Found in Text Mining only