CBLN2 - cerebellin 2 precursor Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 147381

About 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.

Summary

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 Products (1)

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

CBLN2 Protein Structure

C1q

C1q: C1q domain (94 - 221)

  • 0
  • 100
  • 200
  • 224 a.a.
Protein Preferred Names Protein Names

cerebellin-2

Recombinant CBLN2 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P79253 Cerebellin-2 Protein, Human (CHO, HA) Q8IUK8 (R50-L224) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
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

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

生物種 Symbol 由来 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
Others CBLN2 NCBI