CADPS2 - calcium dependent secretion activator 2 Gene

Also Known as CAPS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 93664

About CADPS2

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:122,318,411-122,886,460 (from NCBI)

This gene has 6 transcripts (splice variants) and 217 orthologues. Ubiquitous expression in kidney (RPKM 9.9), brain (RPKM 7.6) and 23 other tissues.

Summary

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

CADPS2 Products (15)

mRNA Protein Name
NM_001009571.4 NP_001009571.2 calcium-dependent secretion activator 2 isoform b
NM_001167940.2 NP_001161412.1 calcium-dependent secretion activator 2 isoform c
NM_001363389.2 NP_001350318.1 calcium-dependent secretion activator 2 isoform d
NM_001363390.2 NP_001350319.1 calcium-dependent secretion activator 2 isoform e
NM_001363391.2 NP_001350320.1 calcium-dependent secretion activator 2 isoform f
NM_001363392.2 NP_001350321.1 calcium-dependent secretion activator 2 isoform g
NM_001363393.2 NP_001350322.1 calcium-dependent secretion activator 2 isoform h
NM_001363394.2 NP_001350323.1 calcium-dependent secretion activator 2 isoform i
NM_001363395.2 NP_001350324.1 calcium-dependent secretion activator 2 isoform j
NM_001363396.2 NP_001350325.1 calcium-dependent secretion activator 2 isoform k
NM_001363397.2 NP_001350326.1 calcium-dependent secretion activator 2 isoform l
NM_001363398.2 NP_001350327.1 calcium-dependent secretion activator 2 isoform m
NM_001363399.2 NP_001350328.1 calcium-dependent secretion activator 2 isoform n
NM_001363400.2 NP_001350329.1 calcium-dependent secretion activator 2 isoform o
NM_017954.11 NP_060424.9 calcium-dependent secretion activator 2 isoform a

CADPS2 Protein Structure

PH

PH: PH domain (489 - 588)

DUF1041

DUF1041: Domain of Unknown Function (DUF1041) (800 - 894)

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  • 1296 a.a.
Protein Preferred Names Protein Names

calcium-dependent secretion activator 2

  • CAPS-2

Related Diseases

Diseases Alias
Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Intellectual Developmental Disorder, X-Linked 108
  • MRX108

  • X-Linked Intellectual Developmental Disorder 108

  • Mental Retardation, X-Linked 108

  • Mental Retardation, X-Linked, Type 108

Mullegama-Klein-Martinez Syndrome
  • MKMS

  • Nedxcf

  • Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities

  • X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities

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
Canis familiaris CADPS2 VGNC VGNC:38659
Bos taurus CADPS2 VGNC VGNC:26699
Macaca mulatta CADPS2 VGNC VGNC:70564
Rattus norvegicus CADPS2 RGD RGD:1559440
Felis catus CADPS2 VGNC VGNC:60316
Mus musculus CADPS2 MGD MGI:2443963
Others CADPS2 NCBI