CBARP - CACN subunit beta associated regulatory protein Gene

Also Known as DOS; BARP; C19orf26

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 255057

About CBARP

This gene has 7 transcripts (splice variants) and 182 orthologues. Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues.

Summary

Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated Calcium Channel activity. Predicted to be located in synaptic vesicle membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Predicted to colocalize with growth cone and secretory granule. [provided by Alliance of Genome Resources, Apr 2022]

CBARP Products (2)

mRNA Protein Name
NM_001393918.1 NP_001380847.1 voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 1
NM_152769.3 NP_689982.3 voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

voltage-dependent calcium channel beta subunit-associated regulatory protein

  • CACN beta subunit associated regulatory protein

Related Diseases

Diseases Alias
Spinal Muscular Atrophy, Type Ii
  • SMA2

  • Sma Ii

  • Muscular Atrophy, Spinal, Intermediate Type

  • Muscular Atrophy, Spinal, Infantile Chronic Form

  • Intermediate Spinal Muscular Atrophy

  • Spinal Muscular Atrophy Type Ii

  • Spinal Muscular Atrophy-2

  • Spinal Muscular Atrophy 2

  • Spinal Muscular Atrophy Type 2

  • Dubowitz Disease

  • Proximal Spinal Muscular Atrophy Type 2

  • Sma Type 2

  • Sma Type Ii

  • Sma-Ii

  • Spinal Muscular Atrophy Infantile Chronic Form

  • Spinal Muscular Atrophy Intermediate Type

  • Spinal Muscular Atrophies Of Childhood

  • Atrophy, Muscular, Spinal, Type Ii

  • Muscular Atrophy, Spinal, Type Ii

Rapp-Hodgkin Syndrome
  • RHS

  • Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

  • Ectodermal Dysplasia, Rapp-Hodgkin Type

  • Rapp-Hodgkin Ectodermal Dysplasia Syndrome

  • Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

  • Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

  • Edrh

  • Rapp-Hodgkin Ectodermal Dysplasia

  • Orofacial Cleft 8

Sleeping Sickness
  • African Trypanosomiasis

  • African Sleeping Sickness

  • Trypanosomiasis, Human East-African

  • Trypanosomiasis, East African

  • Trypanosomiasis African

  • Trypanosomiasis, African

  • Human African Trypanosomiasis

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

Species Symbol Source ID
Rattus norvegicus CBARP RGD RGD:1307185
Bos taurus CBARP VGNC VGNC:26806
Macaca mulatta CBARP VGNC VGNC:70662
Mus musculus CBARP MGD MGI:1354170
Canis familiaris CBARP VGNC VGNC:54587
Felis catus CBARP VGNC VGNC:108360
Others CBARP NCBI