JAGN1 - jagunal homolog 1 Gene

Homo sapiens

Also known as SCN6; GL009

Gene ID: 84522 | Gene type: protein coding

About JAGN1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,890,610-9,894,349 (from NCBI)

This gene has 2 transcripts (splice variants), 267 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 15.3), liver (RPKM 12.7) and 25 other tissues.

Summary

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

JAGN1 Products(2)

mRNA	Protein	Name
NM_001363890.1	NP_001350819.1	protein jagunal homolog 1 isoform b
NM_032492.4	NP_115881.3	protein jagunal homolog 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in granulocyte colony-stimulating factor signaling pathway	IMP IMP: Inferred from mutant phenotype	25129144	GOA
involved in neutrophil differentiation	IMP IMP: Inferred from mutant phenotype	25129144	GOA
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	25129144	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	25129144	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JAGN1 Protein Structure

Jagunal

0
100
183 a.a.

Protein Preferred Names

Protein Names

protein jagunal homolog 1

Related Diseases

Diseases

Alias

Neutropenia, Severe Congenital, 6, Autosomal Recessive

SCN6	Neutropenia, Severe Congenital 6, Autosomal Recessive
Severe Congenital Neutropenia 6, Autosomal Recessive	Neutropenia, Severe Congenital, Type 6, Autosomal Recessive

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

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

Neutropenia

Leukopenia

Severe Congenital Neutropenia 3

Kostmann Syndrome	Infantile Agranulocytosis
Kostmann Disease	Scn3
Severe Congenital Neutropenia Type 3

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome	Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome
Vps45 Deficiency	Scn5

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

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

Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type	PN
Clericuzio Type Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio-Type
Clericuzio-Type Poikiloderma With Neutropenia	Poikiloderma With Neutropenia Clericuzio Type
Immune-Deficient Poikiloderma	Clericuzio-Type Poikiloderma Neutropenia Syndrome
Poikiloderma With Neutropenia Clericuzio-Type	Poikiloderma, With Neutropenia

Cohen Syndrome

Pepper Syndrome	COH1
Hypotonia, Obesity, And Prominent Incisors	Coh
Chs1, Formerly	Norio Syndrome
Obesity-Hypotonia Syndrome	Prominent Incisors-Obesity-Hypotonia Syndrome
Chs1	Hypotonia-Obesity-Prominent Incisors
Stage 4s Neuroblastoma

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07014	JAGN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	JAGN1	MGD	MGI:1915017
Canis familiaris	JAGN1	VGNC	VGNC:42174
Bos taurus	JAGN1	VGNC	VGNC:30363
Rattus norvegicus	JAGN1	RGD	RGD:1565488
Macaca mulatta	JAGN1	VGNC	VGNC:73664
Felis catus	JAGN1	VGNC	VGNC:62998

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