CNTNAP3 - contactin associated protein family member 3 Gene

Also Known as CASPR3; CNTNAP3A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79937

About CNTNAP3

Cytogenetic location: 9p12 Genomic coordinates (GRCh38): 9:39,064,710-39,288,167 (from NCBI)

This gene has 12 transcripts (splice variants), 289 orthologues and 35 paralogues. Broad expression in esophagus (RPKM 5.9), skin (RPKM 4.1) and 22 other tissues.

Summary

The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

CNTNAP3 Products (2)

mRNA Protein Name
NM_001393379.1 NP_001380308.1 contactin-associated protein-like 3 isoform 2 precursor
NM_033655.5 NP_387504.2 contactin-associated protein-like 3 isoform 1 precursor

CNTNAP3 Protein Structure

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (45 - 174)

Laminin_G_2

Laminin_G_2: Laminin G domain (212 - 340)

Laminin_G_2

Laminin_G_2: Laminin G domain (398 - 521)

Laminin_G_2

Laminin_G_2: Laminin G domain (821 - 939)

Laminin_G_2

Laminin_G_2: Laminin G domain (1046 - 1174)

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  • 1288 a.a.
Protein Preferred Names Protein Names

contactin-associated protein-like 3

  • cell recognition molecule Caspr3

Related Diseases

Diseases Alias
Cloacal Exstrophy
  • Oeis Complex

  • Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex

  • Cloacal Exstrophy Sequence

  • Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect

  • Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects

  • Omphalocele Exstrophy Imperforate Anus

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
  • Exstrophy-Epispadias Complex

  • Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex

  • Beec

  • Eec

  • Exstrophy Of The Bladder

  • Bladder Exstrophy

  • Bladder Exstrophy And Epispadias Complex

Cyclothymic Disorder
  • Cyclothymia

  • Cycloid Personality

  • Cyclothymic Personality

  • Affective Personality Disorder

  • Cyclothymic Personality Disorder

  • Cycloid Personality Disorder

Developmental And Epileptic Encephalopathy 76
  • DEE76

  • Epileptic Encephalopathy, Early Infantile, 76

  • Eiee76

  • Decam

  • Developmental And Epileptic Encephalopathy, 76

  • Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, And Abnormal Myelination

  • Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, And Abnormal Myelination

  • Early Infantile Epileptic Encephalopathy 76

Bladder Exstrophy
  • Exstrophy Of The Bladder

  • Classic Exstrophy Of The Bladder

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 CNTNAP3 RGD RGD:1563615
Mus musculus CNTNAP3 MGD MGI:3588199