1. Gene
  2. CBARP - CACN subunit beta associated regulatory protein Gene

CBARP - CACN subunit beta associated regulatory protein Gene

Homo sapiens

Also known as DOS; BARP; C19orf26

Gene ID: 255057 | Gene type: protein coding

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
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