1. Gene
  2. STX3 - syntaxin 3 Gene

STX3 - syntaxin 3 Gene

Homo sapiens

Also known as MVID2; STX3A; DIAR12; RDMVID

Gene ID: 6809 | Gene type: protein coding

About STX3

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,754,188-59,805,878 (from NCBI)

This gene has 8 transcripts (splice variants), 271 orthologues, 12 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 9.8), duodenum (RPKM 8.8) and 25 other tissues.

Summary

The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

STX3 Products(2)

mRNA Protein Name
NM_001178040.2 NP_001171511.1 syntaxin-3 isoform 2
NM_004177.5 NP_004168.1 syntaxin-3 isoform 1

STX3 Protein Structure

Syntaxin

Syntaxin: Syntaxin (31 - 131)

SNARE

SNARE: SNARE domain (197 - 258)

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

syntaxin-3

syntaxin 3A

Recombinant STX3 Proteins

Cat. No. Product Name Accession Purity
HY-P73622 Syntaxin-3 Protein, Human (His) Q13277 (M1-N289) ≥95%

Related Diseases

Diseases Alias
Retinal Dystrophy And Microvillus Inclusion Disease

RDMVID

Diarrhea 12, With Microvillus Atrophy

DIAR12

Microvillus Inclusion Disease 2

Mvid2

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Congenital Diarrhea
Secretory Diarrhea
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Tetanus

Lockjaw

Clostridial Tetanus

Infection Due To Clostridium Tetani

Lock-Jaw

Retinitis Pigmentosa 77

RP77

Retinitis Pigmentosa, Type 77

Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5

Hlh5

Hplh5

Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Diarrhea 4, Malabsorptive, Congenital

Enteric Anendocrinosis

Congenital Malabsorptive Diarrhea 4

DIAR4

Congenital Malabsorptive Diarrhea Due To Paucity Of Enteroendocrine Cells

Congenital Malabsorptive Diarrhoea 4

Congenital Malabsorptive Diarrhoea Due To Paucity Of Enteroendocrine Cells

Diarrhea, Type 4, Malabsorptive, Congenital

Hemophagocytic Lymphohistiocytosis, Familial, 4

Familial Hemophagocytic Lymphohistiocytosis 4

FHL4

Hplh4

Hlh4

Lymphohistiocytosis, Hemophagocytic, Familial, Type 4

Type 1 Diabetes Mellitus 10

Diabetes Mellitus, Insulin-Dependent, 10

IDDM10

Insulin-Dependent Diabetes Mellitus 10

Diabetes, Mellitus, Insulin-Dependent, Susceptibility To, 10

T1D10

Diabetes, Mellitus, Insulin-Dependent 10

Diabetes Mellitus, Insulin-Dependent, Type 10

Diarrhea 5, With Tufting Enteropathy, Congenital

Congenital Diarrhea 5 With Tufting Enteropathy

Congenital Tufting Enteropathy

DIAR5

Cte

Intestinal Epithelial Cell Dysplasia

Tufting Enteropathy

Ied

Intestinal Epithelial Dysplasia

Enteropathy, Congenital Tufting

Congenital Diarrhoea 5 With Tufting Enteropathy

Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities

Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities

Congenital Enteropathy

Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities

Non-Syndromic Congenital Tufting Enteropathy

Diarrhea, Type 5, With Tufting Enteropathy, Congenital

Intestinal Intraepithelial Neoplasia

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic

Haemophagocytic Syndrome

Lymphohistiocytosis Hemophagocytic

Hemophagocytic Syndrome

Familial Hemophagocytic Lymphocytosis

Histiocytoses Of Mononuclear Phagocytes

Haemophagocytic Lymphohistiocytosis Nos

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus STX3 VGNC VGNC:65813
Rattus norvegicus STX3 RGD RGD:621005
Canis familiaris STX3 VGNC VGNC:46955
Macaca mulatta STX3 VGNC VGNC:78044
Bos taurus STX3 VGNC VGNC:35439
Mus musculus STX3 MGD MGI:103077