1. Gene
  2. CHRDL2 - chordin like 2 Gene

CHRDL2 - chordin like 2 Gene

中文名称:chordin 样 2

种属: Homo sapiens

同用名: BNF1; CHL2

基因 ID: 25884 | 基因类型: protein coding

关于 CHRDL2

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,696,429-74,731,426 (from NCBI)

This gene has 9 transcripts (splice variants), 118 orthologues and 19 paralogues. Biased expression in gall bladder (RPKM 39.8), appendix (RPKM 39.3) and 4 other tissues.

功能概要

该基因编码 chordin 蛋白质家族的成员。 Chordin 家族成员是分泌型蛋白质,它们共享富含半胱氨酸的前胶原重复结构域,并与转化生长因子 β 超家族的成员相关联。体外试验表明编码蛋白与人激活素 A 之间存在直接相互作用。该基因在包括成骨细胞在内的许多组织中表达,在分化过程中差异表达。此外,它在人类骨关节炎关节软骨中的表达上调,表明它在成人软骨再生中发挥作用。[RefSeq 提供,2015 年 1 月]

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 demonstrate a direct interaction between the encoded protein and human Activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]

CHRDL2 基因产物(7)

mRNA Protein Name
NM_001278473.3 NP_001265402.1 chordin-like protein 2 isoform 2 precursor
NM_001304390.2 NP_001291319.1 chordin-like protein 2 isoform 3
NM_001304391.2 NP_001291320.1 chordin-like protein 2 isoform 4
NM_001304415.2 NP_001291344.1 chordin-like protein 2 isoform 5
NM_001304416.2 NP_001291345.1 chordin-like protein 2 isoform 6
NM_001304417.2 NP_001291346.1 chordin-like protein 2 isoform 7
NM_015424.6 NP_056239.3 chordin-like protein 2 isoform 1 precursor

CHRDL2 蛋白结构

VWC

VWC: von Willebrand factor type C domain (33 - 95)

VWC

VWC: von Willebrand factor type C domain (111 - 174)

VWC

VWC: von Willebrand factor type C domain (252 - 314)

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  • 429 a.a.
蛋白主名 其他名称

chordin-like protein 2

breast tumor novel factor 1

关联疾病

疾病名称 别名
Immunodeficiency 36

IMD36

Activated Phosphoinositide 3-Kinase Delta Syndrome 2

Immunodeficiency, Type 36

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
Rattus norvegicus CHRDL2 RGD RGD:1306179
Bos taurus CHRDL2 VGNC VGNC:27317
Canis familiaris CHRDL2 VGNC VGNC:39230
Felis catus CHRDL2 VGNC VGNC:60872
Macaca mulatta CHRDL2 VGNC VGNC:71081
Mus musculus CHRDL2 MGD MGI:1916371
Others CHRDL2 NCBI