1. Gene
  2. CHRD - chordin Gene

CHRD - chordin Gene

中文名称:脊索蛋白

种属: Homo sapiens

基因 ID: 8646 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种分泌蛋白,该蛋白通过与腹侧化 TGF-β 样骨形态发生蛋白结合并将它们隔离在潜在复合物中,从而使早期脊椎动物胚胎组织背侧化。编码的蛋白质也可能在器官发生和成年期发挥作用。有人提出,该基因可能是 Cornelia de Lange 综合征的候选基因。该基因表达的减少导致骨再生增强。可变剪接导致多个转录本变体。已经描述了其他替代剪接变体,但尚未确定它们的全长序列。[RefSeq 提供,2015 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19429706 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
11472837 GOA
involved in negative regulation of BMP signaling pathway IMP
IMP: 通过突变表型推断
11472837 GOA
involved in negative regulation of cell migration IDA
IDA: 通过直接分析推断
16449796 GOA
involved in negative regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
18533030 GOA
involved in positive regulation of cell adhesion IDA
IDA: 通过直接分析推断
16449796 GOA
involved in positive regulation of mesenchymal cell proliferation IMP
IMP: 通过突变表型推断
18533030 GOA
involved in spinal cord dorsal/ventral patterning IMP
IMP: 通过突变表型推断
11472837 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CHRD 蛋白结构

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)

  • 0
  • 200
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  • 800
  • 955 a.a.
蛋白主名 其他名称

chordin

CHRD 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CHRD Q9H2X0 KRTAP10-8 Homo sapiens P60410 25416956
种属内
CHRD Q9H2X0 KRTAP10-8 Homo sapiens P60410 32296183
种属内
CHRD Q9H2X0 KRTAP10-8 Homo sapiens P60410 32296183
种属内
CHRD Q9H2X0 KRTAP10-8 Homo sapiens P60410 25416956
种属内
CHRD Q9H2X0 KRTAP10-9 Homo sapiens P60411 25416956
种属内
CHRD Q9H2X0 KRTAP10-7 Homo sapiens P60409 25416956
种属内
CHRD Q9H2X0 KRTAP10-7 Homo sapiens P60409 32296183
种属内
CHRD Q9H2X0 KRTAP10-7 Homo sapiens P60409 32296183
种属内
CHRD Q9H2X0 KRTAP4-2 Homo sapiens Q9BYR5 25416956
种属内
CHRD Q9H2X0 KRTAP4-2 Homo sapiens Q9BYR5 32296183
种属内
CHRD Q9H2X0 KRTAP4-2 Homo sapiens Q9BYR5 25416956
种属内
CHRD Q9H2X0 KRTAP4-2 Homo sapiens Q9BYR5 32296183
种属内
CHRD Q9H2X0 ADAMTSL4 Homo sapiens Q6UY14-3 32296183
种属内
CHRD Q9H2X0 ADAMTSL4 Homo sapiens Q6UY14-3 32296183
种属内
CHRD Q9H2X0 KRTAP12-2 Homo sapiens P59991 32296183
种属内
CHRD Q9H2X0 KRTAP12-2 Homo sapiens P59991 32296183
种属内
CHRD Q9H2X0 KRTAP12-1 Homo sapiens P59990 32296183
种属内
CHRD Q9H2X0 KRTAP12-1 Homo sapiens P59990 32296183
种属内
CHRD Q9H2X0 KRTAP9-3 Homo sapiens Q9BYQ3 32296183
种属内
CHRD Q9H2X0 KRTAP9-3 Homo sapiens Q9BYQ3 32296183
种属内
CHRD Q9H2X0 KRT34 Homo sapiens O76011 32296183
种属内
CHRD Q9H2X0 KRT34 Homo sapiens O76011 32296183
种属内
CHRD Q9H2X0 KRTAP19-5 Homo sapiens Q3LI72 32296183
种属内
CHRD Q9H2X0 KRTAP19-5 Homo sapiens Q3LI72 32296183
种属内
CHRD Q9H2X0 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
CHRD Q9H2X0 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
CHRD Q9H2X0 KRTAP12-3 Homo sapiens P60328 32296183
种属内
CHRD Q9H2X0 KRTAP12-3 Homo sapiens P60328 32296183
种属内
CHRD Q9H2X0 LCE5A Homo sapiens Q5TCM9 32296183
种属内
CHRD Q9H2X0 LCE5A Homo sapiens Q5TCM9 32296183
种属内
CHRD Q9H2X0 LCE1F Homo sapiens Q5T754 32296183
种属内
CHRD Q9H2X0 LCE1F Homo sapiens Q5T754 32296183
种属内
CHRD Q9H2X0 KRTAP1-1 Homo sapiens Q07627 32296183
种属内
CHRD Q9H2X0 KRTAP1-1 Homo sapiens Q07627 32296183
种属内
CHRD Q9H2X0 KRTAP19-2 Homo sapiens Q3LHN2 32296183
种属内
CHRD Q9H2X0 KRTAP19-2 Homo sapiens Q3LHN2 32296183
种属内
CHRD Q9H2X0 LCE1C Homo sapiens Q5T751 32296183
种属内
CHRD Q9H2X0 LCE1C Homo sapiens Q5T751 32296183
种属内
CHRD Q9H2X0 SPRY3 Homo sapiens O43610 32296183
种属内
CHRD Q9H2X0 SPRY3 Homo sapiens O43610 32296183
种属内
CHRD Q9H2X0 CHRDL2 Homo sapiens Q6WN34-2 32296183
种属内
CHRD Q9H2X0 CHRDL2 Homo sapiens Q6WN34-2 32296183
种属内
CHRD Q9H2X0 SLC15A2 Homo sapiens Q16348 32296183
种属内
CHRD Q9H2X0 SLC15A2 Homo sapiens Q16348 32296183
种属内
CHRD Q9H2X0 NR4A3 Homo sapiens Q92570 32296183
种属内
CHRD Q9H2X0 NR4A3 Homo sapiens Q92570 32296183
种属内
CHRD Q9H2X0 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
CHRD Q9H2X0 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
CHRD Q9H2X0 POU4F2 Homo sapiens Q12837 32296183
种属内
CHRD Q9H2X0 POU4F2 Homo sapiens Q12837 32296183
种属内
CHRD Q9H2X0 NOTCH2NLC Homo sapiens P0DPK4 32296183
种属内
CHRD Q9H2X0 NOTCH2NLC Homo sapiens P0DPK4 32296183
种属内
CHRD Q9H2X0 KRTAP6-3 Homo sapiens Q3LI67 32296183
种属内
CHRD Q9H2X0 KRTAP6-3 Homo sapiens Q3LI67 32296183
种属内
CHRD Q9H2X0 LIN7A Homo sapiens O14910 32296183
种属内
CHRD Q9H2X0 LIN7A Homo sapiens O14910 32296183
种属内
CHRD Q9H2X0 SMAD3 Homo sapiens P84022 21988832
种属内
CHRD Q9H2X0 SMAD3 Homo sapiens P84022
Y2H
21988832
种属内
CHRD Q9H2X0 SPRY1 Homo sapiens O43609 32296183
种属内
CHRD Q9H2X0 SPRY1 Homo sapiens O43609 32296183
种属内
CHRD Q9H2X0 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
CHRD Q9H2X0 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
CHRD Q9H2X0 RGS17 Homo sapiens Q9UGC6 32296183
种属内
CHRD Q9H2X0 RGS17 Homo sapiens Q9UGC6 32296183
种属内
CHRD Q9H2X0 RGS17 Homo sapiens Q9UGC6 32296183
种属内
CHRD Q9H2X0 KRTAP5-9 Homo sapiens P26371 25416956
种属内
CHRD Q9H2X0 KRTAP5-9 Homo sapiens P26371 32296183
种属内
CHRD Q9H2X0 KRTAP5-9 Homo sapiens P26371 32296183
种属内
CHRD Q9H2X0 TRIM42 Homo sapiens Q8IWZ5 32296183
种属内
CHRD Q9H2X0 TRIM42 Homo sapiens Q8IWZ5 32296183
种属内
CHRD Q9H2X0 INCA1 Homo sapiens Q0VD86 32296183
种属内
CHRD Q9H2X0 INCA1 Homo sapiens Q0VD86 32296183
种属内
CHRD Q9H2X0 KRTAP4-12 Homo sapiens Q9BQ66 32296183
种属内
CHRD Q9H2X0 KRTAP4-12 Homo sapiens Q9BQ66 32296183
种属内
CHRD Q9H2X0 PLSCR1 Homo sapiens O15162 25416956
种属内
CHRD Q9H2X0 OTX1 Homo sapiens P32242 25416956
种属内
CHRD Q9H2X0 OTX1 Homo sapiens P32242 25416956
种属内
CHRD Q9H2X0 OTX1 Homo sapiens P32242 25416956
种属内
CHRD Q9H2X0 HOXA1 Homo sapiens P49639 25416956
种属内
CHRD Q9H2X0 HOXA1 Homo sapiens P49639 21653829
种属内
CHRD Q9H2X0 SPRY2 Homo sapiens O43597 25416956
种属内
CHRD Q9H2X0 CATSPER1 Homo sapiens Q8NEC5 25416956
种属内
CHRD Q9H2X0 MEOX2 Homo sapiens P50222 25416956
种属内
CHRD Q9H2X0 TSPAN4 Homo sapiens O14817 32296183
种属内
CHRD Q9H2X0 TSPAN4 Homo sapiens O14817 32296183
种属内
CHRD Q9H2X0 GATA1 Homo sapiens P15976-2 32296183
种属内
CHRD Q9H2X0 GATA1 Homo sapiens P15976-2 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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