1. Gene
  2. STX5 - syntaxin 5 Gene

STX5 - syntaxin 5 Gene

Homo sapiens

Also known as SED5; STX5A

Gene ID: 6811 | Gene type: protein coding

About STX5

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,806,860-62,832,051 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues and 12 paralogues. Ubiquitous expression in thyroid (RPKM 22.3), ovary (RPKM 17.5) and 25 other tissues.

Summary

This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in Autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

STX5 Products(3)

mRNA Protein Name
NM_001244666.3 NP_001231595.1 syntaxin-5 isoform 2
NM_001330294.2 NP_001317223.1 syntaxin-5 isoform 3
NM_003164.5 NP_003155.2 syntaxin-5 isoform 1

STX5 Protein Structure

Syntaxin

Syntaxin: Syntaxin (91 - 194)

SNARE

SNARE: SNARE domain (269 - 327)

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  • 355 a.a.
Protein Preferred Names Protein Names

syntaxin-5

syntaxin 5A

Related Diseases

Diseases Alias
Human Cytomegalovirus Infection

Cytomegalovirus Infection

Cytomegalovirus Infections

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Spondyloepiphyseal Dysplasia, Nishimura Type

SEDN

Spondyloepiphyseal Dysplasia Nishimura Type

Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z

Charcot-Marie-Tooth Disease Axonal Type 2z

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation

Charcot-Marie-Tooth Disease 2z

Charcot-Marie-Tooth Disease, Type 2z

Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia

SMC1

Smc

Smith Mccort Dysplasia

Smith-Mccort Dwarfism

Congenital Disorder Of Glycosylation, Type Iih

CDG2H

Congenital Disorder Of Glycosylation Type Iih

Cdg Iih

Cdgiih

Carbohydrate Deficient Glycoprotein Syndrome Type Iih

Congenital Disorder Of Glycosylation Type 2h

Cog8-Cdg

Cdg-Iih

Cdgiidh

Cdg Syndrome Type Iih

Congenital Disorder Of Glycosylation 2h

Glycosylation, Congenital Disorder Of, Type Iih

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome

CEDNIK

Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome

Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma

Neurocutaneous Syndromes

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome

DMC

Dmc Disease

Pseudo-Morquio Disease Type I

Dmc Syndrome

Cataract 4, Multiple Types

Cataract 4 Multiple Types

CTRCT4

Cca3

Pcc

Aculeiform Cataract

Cataract 4, Multiple Types, With Or Without Microcornea

Cataract, Crystalline Aculeiform

Caca

Cataract, Congenital, Cerulean Type, 3

Congenital Cataract Cerulean Type 3

Cataract Congenital Dominant Non Nuclear

Ccp

Cataract, Nonnuclear Polymorphic Congenital

Cataract, Punctate, Progressive Juvenile-Onset

Cataract 4 Multiple Types With Or Without Microcornea

Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract

Cataract, Polymorphic Congenital

Congenital Cataract Blue Dot Type 3

Congenital Non-Nuclear Polymorphic Cataract

Crystalline Aculeiform Cataract

Punctate, Progressive Juvenile-Onset, Cataract

Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

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 STX5 VGNC VGNC:46957
Macaca mulatta STX5 VGNC VGNC:78045
Felis catus STX5 VGNC VGNC:65815
Mus musculus STX5 MGD MGI:1928483
Rattus norvegicus STX5 RGD RGD:68426
Bos taurus STX5 VGNC VGNC:35441