1. Gene
  2. CHRD - chordin Gene

CHRD - chordin Gene

Homo sapiens
Gene ID: 8646 | Gene type: protein coding

About CHRD

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,380,054-184,390,739 (from NCBI)

This gene has 17 transcripts (splice variants), 102 orthologues and 19 paralogues. Broad expression in endometrium (RPKM 10.5), liver (RPKM 6.4) and 23 other tissues.

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 organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]

CHRD Products(4)

mRNA Protein Name
NM_001304472.2 NP_001291401.1 chordin isoform 2 precursor
NM_001304473.2 NP_001291402.1 chordin isoform 3
NM_001304474.2 NP_001291403.1 chordin isoform 3
NM_003741.4 NP_003732.2 chordin isoform 1 precursor

CHRD Protein Structure

VWC

VWC: von Willebrand factor type C domain (51 - 125)

CHRD

CHRD: CHRD domain (172 - 272)

CHRD

CHRD: CHRD domain (281 - 397)

CHRD

CHRD: CHRD domain (406 - 519)

CHRD

CHRD: CHRD domain (533 - 646)

VWC

VWC: von Willebrand factor type C domain (705 - 762)

VWC

VWC: von Willebrand factor type C domain (792 - 850)

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  • 955 a.a.
Protein Preferred Names Protein Names

chordin

Related Diseases

Diseases Alias
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Tarsal-Carpal Coalition Syndrome

TCC

Tarsal Carpal Coalition Syndrome

Nog-Related-Symphalangism Spectrum Disorder

Holoprosencephaly 4

HPE4

Holoprosencephaly-4

Holoprosencephaly, Type 4

Brachydactyly, Type B2

Brachydactyly Type B2

BDB2

Brachydactyly B2

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Weissenbacher-Zweymuller Syndrome

Wzs

Pierre Robin Syndrome With Fetal Chondrodysplasia

OSMEDA

Weissenbacher-Zweymüller Syndrome

Heterozygous Osmed

Stickler Syndrome, Type 3

Osmed, Heterozygous

Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Stickler Syndrome, Type Iii, Formerly

Stl3, Formerly

Piere-Robin Syndrome

Pierre Robin Malformation

Heterozygous Otospondylomegaepiphyseal Dysplasia

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Ad Osmed

Stickler Syndrome Type 3

Stickler Syndrome, Non-Ocular Type

Stickler-Like Syndrome

Stickler Syndrome 3

Stickler Syndrome Non-Ocular Type

Stickler Syndrome Type Iii

Stl3

Weissenbacher-Zweymueller Syndrome

Stickler Syndrome, Type Iii

Pierre Robin Syndrome

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant

Sclerosteosis 1

SOST1

Sost

Cortical Hyperostosis With Syndactyly

Sclerosteosis

Sclerosteosis, Type 1

Proximal Symphalangism

Cushing'S Symphalangism

Symphalangism, Proximal

Hereditary Absence Of Proximal Interphalangeal Joints

Strasburger-Hawkins-Eldridge Syndrome

Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome

Symphalangism, Proximal, 1a

Symphalangism, Proximal, 1b

Vessel'S Syndrome

Symphalangism, Cushing Type

Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle

Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Orofacial Cleft

Cleft, Orofacial

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris CHRD VGNC VGNC:39228
Bos taurus CHRD VGNC VGNC:27316
Macaca mulatta CHRD VGNC VGNC:71042
Rattus norvegicus CHRD RGD RGD:620181
Mus musculus CHRD MGD MGI:1313268
Felis catus CHRD VGNC VGNC:60870
Others CHRD NCBI