CHRD (chordin)

Gene

• Entrez ID: 8646
• Gene name: Chordin
• Gene symbol: CHRD
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3q27.1
• Summary: This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT891563	hsa-miR-22	CLIP-seq
MIRT891564	hsa-miR-3136-3p	CLIP-seq
MIRT1964261	hsa-miR-4651	CLIP-seq
MIRT1964262	hsa-miR-608	CLIP-seq
MIRT2200366	hsa-miR-1260	CLIP-seq
MIRT2200367	hsa-miR-1260b	CLIP-seq
MIRT2200368	hsa-miR-188-3p	CLIP-seq
MIRT2200369	hsa-miR-2115	CLIP-seq
MIRT2200370	hsa-miR-3151	CLIP-seq
MIRT2200371	hsa-miR-3156-3p	CLIP-seq
MIRT2200372	hsa-miR-3936	CLIP-seq
MIRT2200373	hsa-miR-4283	CLIP-seq
MIRT2200374	hsa-miR-4436a	CLIP-seq
MIRT2200375	hsa-miR-4489	CLIP-seq
MIRT1964261	hsa-miR-4651	CLIP-seq
MIRT2200376	hsa-miR-4696	CLIP-seq
MIRT2200377	hsa-miR-4768-3p	CLIP-seq
MIRT1964262	hsa-miR-608	CLIP-seq
MIRT2200378	hsa-miR-665	CLIP-seq
MIRT2503211	hsa-miR-1266	CLIP-seq
MIRT2503212	hsa-miR-214	CLIP-seq
MIRT2503213	hsa-miR-3619-5p	CLIP-seq
MIRT2503214	hsa-miR-4433	CLIP-seq
MIRT2503215	hsa-miR-4518	CLIP-seq
MIRT2503216	hsa-miR-4688	CLIP-seq
MIRT2503217	hsa-miR-4722-5p	CLIP-seq
MIRT2503218	hsa-miR-486-3p	CLIP-seq
MIRT2503219	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9782094
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IMP	18533030
GO:0005515	Function	Protein binding	IPI	19429706, 20043912, 21653829, 21988832, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	16449796
GO:0007389	Process	Pattern specification process	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0019955	Function	Cytokine binding	NAS	16449796
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IMP	11472837
GO:0030336	Process	Negative regulation of cell migration	IDA	16449796
GO:0030509	Process	BMP signaling pathway	IMP	11472837
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	11472837
GO:0033504	Process	Floor plate development	TAS	11790302
GO:0036122	Function	BMP binding	IBA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	18533030
GO:0045785	Process	Positive regulation of cell adhesion	IDA	16449796
GO:0048731	Process	System development	IEA

Other IDs

• MIM: 603475
• HGNC: 1949
• e!Ensembl: ENSG00000090539

Protein

• UniProt ID: Q9H2X0
• Protein name: Chordin
• Protein function: Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity). {ECO:000025
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	51 → 125	von Willebrand factor type C domain	Family
  PF07452	CHRD	406 → 519	CHRD domain	Domain
  PF07452	CHRD	534 → 645	CHRD domain	Domain
  PF00093	VWC	705 → 762	von Willebrand factor type C domain	Family
  PF00093	VWC	784 → 850	von Willebrand factor type C domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at the highest level in liver.
• Sequence:

  MPSLPAPPAPLLLLGLLLLGSRPARGAGPEPPVLPIRSEKEPLPVRGAAGCTFGGKVYAL
  DETWHPDLGEPFGVMRCVLCACEAPQWGRRTRGPGRVSCKNIKPECPTPACGQPRQLPGH
  CCQTCPQERSSSERQPSGLSFEYPRDPEHRSYSDRGEPGAEERARGDGHTDFVALLTGPR
  SQAVARARVSLLRSSLRFSISYRRLDRPTRIRFSDSNGSVLFEHPAAPTQDGLVCGVWRA
  VPRLSLRLLRAEQLHVALVTLTHPSGEVWGPLIRHRALAAETFSAILTLEGPPQQGVGGI
  TLLTLSDTEDSLHFLLLFRGLLEPRSGGLTQVPLRLQILHQGQLLRELQANVSAQEPGFA
  EVLPNLTVQEMDWLVLGELQMALEWAGRPGLRISGHIAARKSCDVLQSVLCGADALIPVQ
  TGAAGSASLTLLGNGSLIYQVQVVGTSSEVVAMTLETKPQRRDQRTVLCHMAGLQPGGHT
  AVGICPGLGARGAHMLLQNELFLNVGTKDFPDGELRGHVAALPYCGHSARHDTLPVPLAG
  ALVLPPVKSQAAGHAWLSLDTHCHLHYEVLLAGLGGSEQGTVTAHLLGPPGTPGPRRLLK
  GFYGSEAQGVVKDLEPELLRHLAKGMASLMITTKGSPRGELRGQVHIANQCEVGGLRLEA
  AGAEGVRALGAPDTASAAPPVVPGLPALAPAKPGGPGRPRDPNTCFFEGQQRPHGARWAP
  NYDPLCSLCTCQRRTVICDPVVCPPPSCPHPVQAPDQCCPVCPEKQDVRDLPGLPRSRDP
  GEGCYFDGDRSWRAAGTRWHPVVPPFGLIKCAVCTCKGGTGEVHCEKVQCPRLACAQPVR
  VNPTDCCKQCPVGSGAHPQLGDPMQADGPRGCRFAGQWFPESQSWHPSVPPFGEMSCITC
  RCGAGVPHCERDDCSLPLSCGSGKESRCCSRCTAHRRPAPETRTDPELEKEAEGS

• Sequence length: 955

Pathways

KEGG:

TGF-beta signaling pathway

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
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Kidney Diseases	Inhibit	30602563	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency Chronic	Inhibit	30602563	★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Associate	35064646	★☆☆☆☆ Found in Text Mining only