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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] See more...
Aliases for NBAS Gene
Aliases for NBAS Gene
External Ids for NBAS Gene
- HGNC: 15625
- Entrez Gene: 51594
- Ensembl: ENSG00000151779
- OMIM: 608025
- UniProtKB: A2RRP1
Previous GeneCards Identifiers for NBAS Gene
- GC02M015224
- GC02M015166
Summaries for NBAS Gene
-
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]
GeneCards Summary for NBAS Gene
NBAS (NBAS Subunit Of NRZ Tethering Complex) is a Protein Coding gene. Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport.
UniProtKB/Swiss-Prot Summary for NBAS Gene
-
Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).
Additional gene information for NBAS Gene
- HGNC(15625)
- Entrez Gene(51594)
- Ensembl(ENSG00000151779)
- OMIM(608025)
- UniProtKB(A2RRP1)
- Open Targets Platform(ENSG00000151779)
- Monarch Initiative
- Search for NBAS at DataMed
- Search for NBAS at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBAS Gene
Genomics for NBAS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NBAS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around NBAS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBAS
- Top Transcription factor binding sites by QIAGEN in the NBAS gene promoter:
-
- GATA-1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- POU3F2
- USF-1
- USF-1:USF-2
- USF1
- USF2
Genomic Locations for NBAS Gene
Genomic Locations for NBAS Gene
- chr2:14,998,067-15,561,344
- (GRCh38/hg38)
- Size:
- 563,278 bases
- Orientation:
- Minus strand
- chr2:15,307,032-15,701,454
- (GRCh37/hg19)
- Size:
- 394,423 bases
- Orientation:
- Minus strand
Genomic View for NBAS Gene
Genes around NBAS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p24.3 by HGNC
- 2p24.3 by Entrez Gene
- 2p24.3 by Ensembl
NBAS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NBAS Gene
Proteins for NBAS Gene
-
Protein details for NBAS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A2RRP1-NBAS_HUMAN
- Recommended name:
- Neuroblastoma-amplified sequence
- Protein Accession:
- A2RRP1
- O95790
- Q2VPJ7
- Q53TK6
- Q86V39
- Q8NFY8
- Q9Y3W5
Protein attributes for NBAS Gene
- Size:
- 2371 amino acids
- Molecular mass:
- 268571 Da
- Quaternary structure:
-
- Component of the NRZ complex composed of NBAS, ZW10 and RINT1/TIP20L; NRZ associates with SNAREs STX18, USE1L, BNIP1/SEC20L and SEC22B (the assembly has been described as syntaxin 18 complex); links NRZ to SNARE USE1L (PubMed:19369418).
- SequenceCaution:
-
- Sequence=AAD18133.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAD18133.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305}; Sequence=CAB43382.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for NBAS Gene
Selected DME Specific Peptides for NBAS Gene
- A2RRP1:
-
- DAAKELL
- VPENVDA
Post-translational modifications for NBAS Gene
Other Protein References for NBAS Gene
Antibody Products
- G Biosciences Immunotag™ NBAS Antibody and Immunotag™ NBAS Polyclonal Antibody
- Novus Biologicals Antibodies for NBAS
- Invitrogen Antibodies for NBAS (AFLGC-NBAS)
-
Biorbyt antibodies for NBAS
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NBAS
- Origene Custom Protein Services for NBAS
- antibodies-online: Search results for available NBAS related products ranked by validation data
Domains & Families for NBAS Gene
Gene Families for NBAS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for NBAS Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NBAS Gene
- GenScript: Design optimal peptide antigens:
-
- Neuroblastoma-amplified gene protein (NBAS_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NBAS Gene
Function for NBAS Gene
Molecular function for NBAS Gene
- UniProtKB/Swiss-Prot Function:
- Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).
Enzyme Numbers (IUBMB) for NBAS Gene
Phenotypes From GWAS Catalog for NBAS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000149 | SNARE binding | IDA | 19369418 |
Phenotypes for NBAS Gene
- MGI mutant phenotypes for NBAS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NBAS:
Animal Models for NBAS Gene
- MGI Knock Outs for NBAS:
-
- Nbas Nbas<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NBAS - Select products 50% OFF >
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-
OriGene CRISPR knockouts for NBAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NBAS
-
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miRNA for NBAS Gene
- miRTarBase miRNAs that target NBAS
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for NBAS - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for NBAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NBAS
No data available for Transcription Factor Targets and HOMER Transcription for NBAS Gene
Localization for NBAS Gene
Subcellular locations from UniProtKB/Swiss-Prot for NBAS Gene
- Cytoplasm. Endoplasmic reticulum. Endoplasmic reticulum membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| nucleus | 3 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Golgi apparatus (2)
- Nuclear membrane (1)
- Nucleoli (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 19369418 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
Pathways & Interactions for NBAS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Golgi-to-ER retrograde transport | ||
| 2 | Vesicle-mediated transport | ||
Pathways by source for NBAS Gene
Interacting Proteins for NBAS Gene
GPS-Prot Interaction Network for NBAS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000956 | nuclear-transcribed mRNA catabolic process | IMP | 23828042 |
| GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IEA,TAS | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:2000623 | negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | IMP | 23828042 |
No data available for SIGNOR curated interactions for NBAS Gene
Transcripts for NBAS Gene
mRNA/cDNA for NBAS Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000281513 7278 nts (view in UCSC)
- ENST00000417461 1330 nts (view in UCSC)
- ENST00000423602 611 nts (view in UCSC)
- ENST00000427792 442 nts (view in UCSC)
- ENST00000429842 638 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NBAS - Select products 50% OFF >
- * NBAS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NBAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NBAS
-
Santa Cruz Biotechnology (SCBT) CRISPR for NBAS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NBAS
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Clone Products
- Applied Biological Materials (abm): Clones for NBAS - Select products 50% OFF >
- * NBAS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NBAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NBAS
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | - | ||||||||||||||
| SP3: | - | - | |||||||||||||
| SP4: | - | - | |||||||||||||
| SP5: |
Relevant External Links for NBAS Gene
- GeneLoc Exon Structure for
- NBAS
Expression for NBAS Gene
This gene is overexpressed in Peripheral blood mononuclear cells (14.2) and Pancreatic juice (14.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NBAS Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBAS
SOURCE GeneReport for Unigene cluster for NBAS Gene:
Hs.467759mRNA Expression by UniProt/SwissProt for NBAS Gene:
A2RRP1-NBAS_HUMAN
Tissue specificity:
Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblastoma cell lines.
Evidence on tissue expression from TISSUES for NBAS Gene
- Nervous system(4.7)
- Eye(4.7)
- Liver(4.5)
- Skin(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NBAS Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- heart
- heart valve
Limb:
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- shin
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- hair
- peripheral nervous system
- skin
- spinal column
Primer Products
-
OriGene qPCR primer pairs for NBAS
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NBAS Gene
Orthologs for NBAS Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NBAS 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Nbas 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | NBAS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | NBAS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NBAS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nbas 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nbas 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | smgl-1 31 |
|
OneToOne |
- Species where no ortholog for NBAS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for NBAS Gene
- ENSEMBL:
- Gene Tree for NBAS (if available)
- TreeFam:
- Gene Tree for NBAS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NBAS: view image
Paralogs for NBAS Gene
(1) SIMAP similar genes for NBAS Gene using alignment to 10 proteins:
- NBAS_HUMAN
- C9JCM7_HUMAN
- G1UI26_HUMAN
- H0Y5G7_HUMAN
- H7BZR3_HUMAN
- H7BZU5_HUMAN
- H7C007_HUMAN
- H7C1U4_HUMAN
- H7C1Y9_HUMAN
- L8E9V8_HUMAN
Pseudogenes.org Pseudogenes for NBAS Gene
No data available for Paralogs for NBAS Gene
Variants for NBAS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBAS Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708451 | Benign: not provided | 15,474,318(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 709138 | Conflicting Interpretations: not provided | 15,402,172(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 710880 | Benign: not provided | 15,468,413(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 712260 | Benign: not provided | 15,292,717(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 712261 | Benign: not provided | 15,488,890(-) | G/A | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv612n67 | CNV | gain | 20364138 |
| dgv613n67 | CNV | gain | 20364138 |
| esv1243706 | CNV | insertion | 17803354 |
| esv1330669 | CNV | insertion | 17803354 |
| esv2617488 | CNV | insertion | 19546169 |
| esv2719726 | CNV | deletion | 23290073 |
| esv2759029 | CNV | loss | 17122850 |
| esv2762245 | CNV | loss | 21179565 |
| esv3583652 | CNV | loss | 25503493 |
| esv3589906 | CNV | loss | 21293372 |
| esv3589910 | CNV | loss | 21293372 |
| esv3891581 | CNV | loss | 25118596 |
| esv6386 | CNV | gain | 19470904 |
| nsv1003654 | CNV | loss | 25217958 |
| nsv1010896 | CNV | loss | 25217958 |
| nsv1110932 | OTHER | inversion | 24896259 |
| nsv472604 | CNV | novel sequence insertion | 20440878 |
| nsv475182 | CNV | novel sequence insertion | 20440878 |
| nsv477856 | CNV | novel sequence insertion | 20440878 |
| nsv515567 | CNV | gain+loss | 19592680 |
| nsv819028 | CNV | gain | 19587683 |
| nsv961384 | CNV | duplication | 23825009 |
| nsv998383 | CNV | loss | 25217958 |
Residual Variation Intolerance Score:
30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.70;
89.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NBAS Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBAS Gene
Disorders for NBAS Gene
(18) MalaCards diseases for NBAS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| short stature, optic nerve atrophy, and pelger-huet anomaly |
|
|
| infantile liver failure syndrome 2 |
|
|
| fever-associated acute infantile liver failure syndrome |
|
|
| interstitial lung and liver disease |
|
|
| pelger-huet anomaly |
|
|
Search NBAS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NBAS_HUMAN- Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision. {ECO:0000269 PubMed:20577004}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Infantile liver failure syndrome 2 (ILFS2) [MIM:616483]: A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269 PubMed:26073778}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=NBAS mutations have been found in a multisystem disease affecting the liver, eye, immune system, connective tissue, and bone. Clinical manifestations include a progeroid appearance, short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, cervical instability, myelopathy, elevated transaminases, hypogammaglobulinemia, reduced natural killer cells, Pelger-Huet anomaly of granulocytes, and in some cases retinal dystrophy and optic atrophy. {ECO:0000269 PubMed:26286438}.
Additional Disease Information for NBAS
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NBAS Gene
Publications for NBAS Gene
- Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F … Musacchio A (Structure (London, England : 1993) 2010) 3 4 23
- The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma. (PMID: 12706883) Scott DK … Lunec J (Gene 2003) 2 3 4
- Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma. (PMID: 9926938) Wimmer K … Hanash SM (Oncogene 1999) 2 3 4
- NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. (PMID: 26286438) Segarra NG … Bonafé L (American journal of medical genetics. Part A 2015) 3 4
- Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. (PMID: 26073778) Haack TB … Prokisch H (American journal of human genetics 2015) 3 4
ExternalLinks
Products for NBAS Gene
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- antibodies-online: Show 3 available NBAS Antibodies ranked by validation data
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NBAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NBAS
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NBAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBAS
- Biorbyt antibodies for NBAS
Sources for NBAS Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB