NBAS - NBAS subunit of NRZ tethering complex Gene

Homo sapiens

Also known as NAG; SOPH; ILFS2

Gene ID: 51594 | Gene type: protein coding

About NBAS

Cytogenetic location: 2p24.3 Genomic coordinates (GRCh38): 2:14,778,909-15,561,334 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 7.5) and 25 other tissues.

Summary

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

NBAS Products(1)

mRNA	Protein	Name
NM_015909.4	NP_056993.2	NBAS subunit of NRZ tethering complex

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SNARE binding	IDA IDA: Inferred from direct assay	19369418	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29929043	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP IMP: Inferred from mutant phenotype	23828042	GOA
involved in nuclear-transcribed mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	23828042	GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	19369418	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Dsl1/NZR complex	IDA IDA: Inferred from direct assay	20462495	GOA
part of Dsl1/NZR complex	IPI IPI: Inferred from physical interaction	20462495	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19369418	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

NBAS Protein Structure

Nbas_N

Sec39

0
400
800
1200
1600
2000
2371 a.a.

Protein Preferred Names

Protein Names

NBAS subunit of NRZ tethering complex

NAG/BC035112 fusion

Related Diseases

Diseases

Alias

Infantile Liver Failure Syndrome 2

ILFS2

Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly

Soph Syndrome	SOPH
Short Stature With Optic Atrophy And Pelger-Huët Anomaly Syndrome	Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome
Stature, Short, Optic Nerve Atrophy, And Pelger-Huet Anomaly

Fever-Associated Acute Infantile Liver Failure Syndrome

Infantile Liver Failure Syndrome

Infantile Liver Failure

Pelger-Huet Anomaly

PHA	Pelger-Huët Anomaly
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities	Pelger Huet Anomaly
Pelger-Huet Nuclear Anomaly

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins	Transient Infantile Liver Failure
LFIT	Acute Infantile Liver Failure
Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins	Liver Failure, Transient Infantile
Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect	Liver Failure, Acute Infantile
Failure, Liver, Transient, Infantile

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome	Richieri-Costa-Colletto Syndrome
Affn Dysostosis	Affn Dysostosis 1
Acro Fronto Facio Nasal Dysostosis	Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly
Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Conduct Disorder

Dysostosis

Dysostoses

Munchausen By Proxy

Munchausen Syndrome By Proxy	Munchausen By Proxy Syndrome
Münchausen Syndrome By Proxy

Nasal Cavity Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Nasal Cavity

Squamous Cell Carcinoma Of The Nasal Cavity

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Separation Anxiety Disorder

Separation Anxiety Disorder Of Childhood

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128172	TRPM4-IN-2	Inhibitor	99.21%	Unkown
HY-P4406	Abz-AGLA-Nba		/	Unkown
HY-RS09051	NBAS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NBAS	VGNC	VGNC:81691
Felis catus	NBAS	VGNC	VGNC:82880
Rattus norvegicus	NBAS	RGD	RGD:1585140
Canis familiaris	NBAS	VGNC	VGNC:81690
Mus musculus	NBAS	MGD	MGI:1918419
Macaca mulatta	NBAS	VGNC	VGNC:96557

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