1. Gene
  2. IL11RA - interleukin 11 receptor subunit alpha Gene

IL11RA - interleukin 11 receptor subunit alpha Gene

中文名称:白介素 11 受体亚基 α

种属: Homo sapiens

同用名: CRSDA

基因 ID: 3590 | 基因类型: protein coding

关于 IL11RA

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,652,185-34,661,902 (from NCBI)

This gene has 27 transcripts (splice variants), 413 orthologues, 23 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 21.3), skin (RPKM 17.1) and 24 other tissues.

功能概要

白细胞介素 11 是一种基质细胞衍生的细胞因子,属于多效性和冗余细胞因子家族,在其高亲和力受体中使用 gp130 转导亚基。该基因编码 IL-11 受体,它是造血细胞因子受体家族的一员。这种特殊的受体与睫状神经营养因子非常相似,因为两者都包含一个细胞外区域,该区域具有由免疫球蛋白样结构域和细胞因子受体样结构域组成的双域结构。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供,2012 年 6 月]

Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 Receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

IL11RA 基因产物(1)

mRNA Protein Name
NM_001142784.3 NP_001136256.1 interleukin-11 receptor subunit alpha precursor
蛋白主名 其他名称

interleukin-11 receptor subunit alpha

IL-11 receptor subunit alpha

重组 IL11RA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76416 IL-11R alpha Protein, Human (HEK293, His) Q14626/NP_004503.1 (S23-V363) ≥95%

关联疾病

疾病名称 别名
Craniosynostosis And Dental Anomalies

Kreiborg-Pakistani Syndrome

CRSDA

Craniosynostosis-Dental Anomalies

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Hyper Ige Recurrent Infection Syndrome 4
Epilepsy, Familial Temporal Lobe, 2

Familial Temporal Lobe Epilepsy 2

Temporal Epilepsy, Familial

ETL2

Ftle

Epilepsy, Familial Temporal Lobe

Familial Temporal Lobe Epilepsy

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

Microphthalmia, Syndromic 3

MCOPS3

Aeg Syndrome

Microphthalmia And Esophageal Atresia Syndrome

Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

Anophthalmia-Esophageal-Genital Syndrome

Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System

Syndromic Microphthalmia 3

Sox2 Anophthalmia Syndrome

Anophthalmia Clinical With Associated Anomalies

Anophthalmia Esophageal Genital Syndrome

Anophthalmia Microphthalmia Esophageal Atresia

Syndromic Microphthalmia Type 3

Sox2-Related Eye Disorders

Anophthalmia, Clinical, With Associated Anomalies

Syndromic Microphthalmia, Type 3

Microphthalmia, Syndromic, 3

Anophthalmia/Microphthalmia-Esophageal Atresia

Microphthalmia Syndromic, Type 3

Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly

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 IL11RA RGD RGD:621332
Felis catus IL11RA VGNC VGNC:102939
Bos taurus IL11RA VGNC VGNC:30109
Canis familiaris IL11RA VGNC VGNC:41931
Mus musculus IL11RA NCBI
Others IL11RA NCBI