1. Gene
  2. GOSR2 - golgi SNAP receptor complex member 2 Gene

GOSR2 - golgi SNAP receptor complex member 2 Gene

Homo sapiens

Also known as Bos1; EPM6; GS27

Gene ID: 9570 | Gene type: protein coding

About GOSR2

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:46,923,160-46,975,890 (from NCBI)

This gene has 47 transcripts (splice variants), 188 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 6.1), small intestine (RPKM 5.4) and 25 other tissues.

Summary

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

GOSR2 Products(10)

mRNA Protein Name
NM_001012511.3 NP_001012529.1 Golgi SNAP receptor complex member 2 isoform C
NM_001321133.2 NP_001308062.1 Golgi SNAP receptor complex member 2 isoform D
NM_001321134.2 NP_001308063.1 Golgi SNAP receptor complex member 2 isoform E
NM_001330252.2 NP_001317181.1 Golgi SNAP receptor complex member 2 isoform F
NM_001353114.2 NP_001340043.1 Golgi SNAP receptor complex member 2 isoform G
NM_001353115.2 NP_001340044.1 Golgi SNAP receptor complex member 2 isoform H
NM_001353116.2 NP_001340045.1 Golgi SNAP receptor complex member 2 isoform I
NM_001363851.2 NP_001350780.1 Golgi SNAP receptor complex member 2 isoform J
NM_004287.5 NP_004278.2 Golgi SNAP receptor complex member 2 isoform A
NM_054022.4 NP_473363.1 Golgi SNAP receptor complex member 2 isoform B

GOSR2 Protein Structure

V-SNARE_C

V-SNARE_C: Snare region anchored in the vesicle membrane C-terminus (124 - 185)

  • 0
  • 100
  • 200
  • 212 a.a.
Protein Preferred Names Protein Names

Golgi SNAP receptor complex member 2

27 kDa Golgi SNARE protein

Related Diseases

Diseases Alias
Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6

Epilepsy, Progressive Myoclonic, 6

EPM6

Epilepsy, Progressive Myoclonic 6

Epilepsy, Myoclonic, Progressive, Type 6

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Myoclonus Epilepsy

Epilepsies, Myoclonic

Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy

Uld

EPM1

Pme

Epm1a

Baltic Myoclonic Epilepsy

Progressive Myoclonic Epilepsy Type 1

Unverricht-Lundborg Disease

Familial Progressive Myoclonic Epilepsy

Epilepsy, Progressive Myoclonic 1

Epilepsy, Progressive Myoclonic, 1a

Epilepsy, Progressive Myoclonic, 1

Myoclonic Epilepsy, Progressive

Epilepsy, Progressive Myoclonic 1a

Progressive Myoclonus Epilepsy Type 1

Progressive Myoclonus Epilepsy

Epilepsy Progressive Myoclonic

Progressive Myoclonic Epilepsy 1

Progressive Myoclonic Epilepsy 1a

Progressive Myoclonic Epilepsy Unverricht-Lundborg Type

Epilepsy, Myoclonic, Progressive

Epilepsy, Myoclonic, Progressive, Type 1a

Unverricht-Lundborg Syndrome

Myoclonic Epilepsies, Progressive

Mixed Cerebral Palsy

Cerebral Palsy, Mixed

Myoclonus
Glycogen Storage Disease Xv

GSD15

Gsd Xv

Glycogenin Deficiency

Gyg1 Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency

Gsd Type 15

Gsd Type Xv

Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease 15

Storage Disease, Glycogen, Type Xv

Progressive Myoclonus Epilepsy 7

Epm7

Meak

Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

Pme Type 7

Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

Progressive Myoclonus Epilepsy Type 7

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome

Amrf

Epm4

Myoclonus-Nephropathy Syndrome

Isolated Growth Hormone Deficiency, Type Ii

Ighd Ii

Isolated Growth Hormone Deficiency Type Ii

IGHD2

Growth Hormone Deficiency, Isolated, Type Ii

Congenital Ighd Type Ii

Congenital Isolated Gh Deficiency Type Ii

Congenital Isolated Growth Hormone Deficiency Type Ii

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant

Growth Hormone Deficiency, Isolated, Autosomal Dominant

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant

Autosomal Dominant Isolated Growth Hormone Deficiency

Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 2

Growth Hormone Deficiency, Isolated Autosomal Dominant

Growth Hormone Deficiency, Isolated, 2

Growth Hormone Deficiency Isolated Autosomal Dominant

Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3

GS3

Griscelli-Prunieras Syndrome Type 3

Hypomelanosis With No Immunologic Or Neurologic Manifestations

Griscelli Syndrome 3

Progressive Myoclonus Epilepsy 1a

Epm1a

Progressive Myoclonus Epilepsy 1b

Epm1b

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

BNHS

Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

Boucher-Neuhäuser Syndrome

Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

Ataxia - Hypogonadism - Choroidal Dystrophy

Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

Bns

Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

Boucher Neuhauser Syndrome

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome

SMAPME

Sma-Pme

Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

Hereditary Myoclonus With Progressive Distal Muscular Atrophy

Jankovic Rivera Syndrome

Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

Myoclonus Hereditary Progressive Distal Muscular Atrophy

Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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
Macaca mulatta GOSR2 VGNC VGNC:110165
Mus musculus GOSR2 MGD MGI:1927204
Rattus norvegicus GOSR2 RGD RGD:62079