1. Gene
  2. SLC37A4 - solute carrier family 37 member 4 Gene

SLC37A4 - solute carrier family 37 member 4 Gene

Homo sapiens

Also known as G6PT; SPX4; CDG2W; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; TRG-19; PRO0685

Gene ID: 2542 | Gene type: protein coding

About SLC37A4

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,024,112-119,030,877 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 277 orthologues, 12 paralogues and is associated with 6 phenotypes. Broad expression in kidney (RPKM 40.6), duodenum (RPKM 31.3) and 24 other tissues.

Summary

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

SLC37A4 Products(5)

mRNA Protein Name
NM_001164277.2 NP_001157749.1 glucose-6-phosphate exchanger SLC37A4 isoform 1
NM_001164278.2 NP_001157750.1 glucose-6-phosphate exchanger SLC37A4 isoform 2
NM_001164279.2 NP_001157751.1 glucose-6-phosphate exchanger SLC37A4 isoform 3
NM_001164280.2 NP_001157752.1 glucose-6-phosphate exchanger SLC37A4 isoform 1
NM_001467.6 NP_001458.1 glucose-6-phosphate exchanger SLC37A4 isoform 1

SLC37A4 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (18 - 380)

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  • 429 a.a.
Protein Preferred Names Protein Names

glucose-6-phosphate exchanger SLC37A4

glucose-5-phosphate transporter

Related Diseases

Diseases Alias
Glycogen Storage Disease Ib

Glucose-6-Phosphate Transport Defect

GSD1B

Gsd Ib

Glycogen Storage Disease Type 1b

Glycogen Storage Disease 1b

Gsd-Ib

Glycogen Storage Disease, Type Ib

Glycogen Storage Disease Ic

GSD1C

Gsd Ic

Glycogen Storage Disease Type 1c

Glycogen Storage Disease 1c

Gsd-Ic

Glycogen Storage Disease 1d

GSD1D

Glycogen Storage Disease Id

Gsd-Id

Glycogen Storage Disease, Type Ic

Glycogen Storage Disease Type Id

Congenital Disorder Of Glycosylation, Type Iiw

CDG2W

Congenital Disorder Of Glycosylation 2w

Glucose-6-Phosphate Translocase Deficiency

G6p Translocase Deficiency

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib

G6p Deficiency Type Ib

G6p Translocase Deficiency

G6pt Deficiency

Gsd Due To G6p Deficiency Type 1b

Gsd Due To G6p Deficiency Type Ib

Gsd Due To G6pt Deficiency

Gsd Type 1 Non A

Gsd Type 1b

Gsd Type Ib

Gsdib

Glycogen Storage Disease Due To G6p Deficiency Type Ib

Glycogen Storage Disease Type 1b

Glycogen Storage Disease Type Ib

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1b

Glycogenosis Due To Glucose-6-Phosphatase Transport Defect Type Ib

Glycogenosis Type 1b

Glycogenosis Type Ib

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Neutropenia

Leukopenia

Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia

Splenomegaly
Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

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

Hepatocellular Adenoma

Adenoma Hepatocellular

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Hyperuricemia

Blood Urate Raized

Uricacidemia

Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii

Forbes Disease

Cori Disease

Glycogen Storage Disease Iiia

Amylo-1,6-Glucosidase Deficiency

Glycogen Storage Disease Iiib

Limit Dextrinosis

GSD3

Agl Deficiency

Glycogen Debrancher Deficiency

Gde Deficiency

Glycogen Storage Disease Iiic

Debrancher Deficiency

Glycogen Storage Disease Type 3

Glycogenosis Type Iii

Glycogen Storage Disease Iiid

Amylo 1,6 Glucosidase Deficiency

Deficiency Of Debranching Enzyme

Deficiency Of Dextrin

Glycogen Storage Disease, Type Iii

Glycogen Debranching Enzyme Deficiency

Cori'S Disease

Gsd Iii

Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency

Cori-Forbes Disease

Gsd Due To Glycogen Debranching Enzyme Deficiency

Gsd Type 3

Gsdiii

Glycogenosis Due To Glycogen Debranching Enzyme Deficiency

Glycogenosis Type 3

Glycogen Storage Disease 3

Glycogen Debranching Enzyme Deficiency

Gsd-Iii

Gsd Iiia

Gsd Iiib

Gsd Iiic

Gsd Iiid

Storage Disease, Glycogen, Type Iii

Severe Congenital Neutropenia 4

Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency

Scn4

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

Dursun Syndrome

Severe Congenital Neutropenia Type 4

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Liver Benign Neoplasm

Epithelial Hepatic And Intrahepatic Bile Duct Neoplasm

Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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 SLC37A4 RGD RGD:62066
Felis catus SLC37A4 VGNC VGNC:65341
Mus musculus SLC37A4 MGD MGI:1316650
Canis familiaris SLC37A4 VGNC VGNC:46389
Bos taurus SLC37A4 VGNC VGNC:34845
Macaca mulatta SLC37A4 VGNC VGNC:77591
Others SLC37A4 NCBI