1. Gene
  2. CBLN2 - cerebellin 2 precursor Gene

CBLN2 - cerebellin 2 precursor Gene

中文名称:小脑蛋白 2 前体

种属: Homo sapiens

基因 ID: 147381 | 基因类型: protein coding

关于 CBLN2

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:72,536,681-72,638,521 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues and 3 paralogues. Biased expression in brain (RPKM 6.0), small intestine (RPKM 0.7) and 3 other tissues.

功能概要

预计参与维持突触结构和自发突触传递。预计在突触组装的正调节上游或正调节内起作用。预计位于细胞外空间。预计在谷氨酸能突触中活跃。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in maintenance of synapse structure and spontaneous synaptic transmission. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in extracellular space. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]

CBLN2 基因产物(1)

mRNA Protein Name
NM_182511.4 NP_872317.1 cerebellin-2 precursor

CBLN2 蛋白结构

C1q

C1q: C1q domain (94 - 221)

  • 0
  • 100
  • 200
  • 224 a.a.
蛋白主名 其他名称

cerebellin-2

重组 CBLN2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P79253 Cerebellin-2 Protein, Human (CHO, HA) Q8IUK8 (R50-L224) ≥95%

关联疾病

疾病名称 别名
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome

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
Felis catus CBLN2 VGNC VGNC:107698
Macaca mulatta CBLN2 VGNC VGNC:70557
Mus musculus CBLN2 MGD MGI:88282
Canis familiaris CBLN2 VGNC VGNC:38762
Bos taurus CBLN2 VGNC VGNC:26812
Rattus norvegicus CBLN2 RGD RGD:1309715