SYN3 - synapsin III Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8224

About SYN3

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:32,507,820-33,058,381 (from NCBI)

This gene has 13 transcripts (splice variants), 223 orthologues and 2 paralogues. Biased expression in brain (RPKM 2.3), testis (RPKM 0.7) and 6 other tissues.

Summary

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]

SYN3 Products (7)

mRNA Protein Name
NM_001135774.2 NP_001129246.1 synapsin-3 isoform IIIg
NM_001369907.1 NP_001356836.1 synapsin-3 isoform IIIa
NM_001369908.1 NP_001356837.1 synapsin-3 isoform IIIa
NM_001369909.1 NP_001356838.1 synapsin-3 isoform IIIg
NM_001369910.1 NP_001356839.1 synapsin-3 isoform IIIg
NM_003490.4 NP_003481.3 synapsin-3 isoform IIIa
NM_133633.3 NP_598344.2 synapsin-3 isoform IIIc

SYN3 Protein Structure

Synapsin_N

Synapsin_N: Synapsin N-terminal (1 - 31)

Synapsin

Synapsin: Synapsin, N-terminal domain (89 - 191)

Synapsin_C

Synapsin_C: Synapsin, ATP binding domain (193 - 395)

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  • 580 a.a.
Protein Preferred Names Protein Names

synapsin-3

  • cN28H9.2 (synapsin III)

Related Diseases

Diseases Alias
Sorsby Fundus Dystrophy
  • SFD

  • Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

  • Sorsby'S Fundus Dystrophy

  • Macular Dystrophy, Hemorrhagic

  • Hemorrhagic Macular Dystrophy

  • Pseudoinflammatory Fundus Dystrophy Of Sorsby

  • Sorsby'S Pseudoinflammatory Macular Dystrophy

  • Sorsby Pseudoinflammatory Fundus Dystrophy

  • Dystrophy, Fundus, Sorsby

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Arteriovenous Malformations Of The Brain
  • Cerebral Arteriovenous Malformation

  • Intracranial Arteriovenous Malformation

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

  • Intracranial Arteriovenous Malformations

  • Bavm

  • Cerebral Arteriovenous Malformations

  • Intracranial Hemorrhage In Brain Cerebrovascular Malformations

  • Arteriovenous Malformation Of The Brain, Somatic

  • Intracranial Avm

  • Arteriovenous Malformations Cerebral

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders
  • X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome

  • EPILX

  • X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders

  • Epilepsy, X-Linked, With Reflex Bathing Seizures

  • Bathing Epilepsy, X-Linked

Persian Gulf Syndrome
  • Gulf War Syndrome

Congenital Muscular Dystrophy-Dystroglycanopathy Type A6
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6

  • Mddga6

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Hypothyroidism, Congenital, Nongoitrous, 4
  • Tsh Deficiency

  • CHNG4

  • Thyrotropin Deficiency, Isolated

  • Pituitary Cretinism

  • Congenital Nongoitrous Hypothyroidism 4

  • Isolated Thyrotropin Deficiency

  • Thyroid-Stimulating Hormone Deficiency

  • Hypothyroidism, Congenital, Nongoitrous 4

  • Thyroid-Stimulating Hormone, Deficiency Of

  • Isolated Thyroid-Stimulating Hormone Deficiency

  • Isolated Tsh Deficiency

  • Hypothyroidism, Congenital, Nongoitrous, Type 4

  • Secondary Hypothyroidism

  • Tsh - [Thyroid Stimulating Hormone] Deficiency

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
Bos taurus SYN3 VGNC VGNC:35516
Rattus norvegicus SYN3 RGD RGD:3799
Mus musculus SYN3 MGD MGI:1351334
Macaca mulatta SYN3 VGNC VGNC:78066
Canis familiaris SYN3 VGNC VGNC:108220
Others SYN3 NCBI