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    NIPSNAP2 nipsnap homolog 2 [ Homo sapiens (human) ]

    Gene ID: 2631, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NIPSNAP2provided by HGNC
    Official Full Name
    nipsnap homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:4179
    See related
    Ensembl:ENSG00000146729 MIM:603004; AllianceGenome:HGNC:4179
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GBAS
    Summary
    This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in heart (RPKM 42.1), thyroid (RPKM 22.8) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See NIPSNAP2 in Genome Data Viewer
    Location:
    7p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55964585..56000179)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (56124373..56159980)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56032278..56067872)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18191 Neighboring gene zinc finger protein 713 Neighboring gene fragile site, folic acid type, rare, fra(7)(p11.2) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:55979512-55980711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:56032587-56033320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26044 Neighboring gene mitochondrial ribosomal protein S17 Neighboring gene MPRA-validated peak6528 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26045 Neighboring gene phosphoserine phosphatase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26049 Neighboring gene small nucleolar RNA, H/ACA box 22B Neighboring gene chaperonin containing TCP1 subunit 6A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR. Wang XY, et al. Genomics, 1998 May 1. PMID 9615231
    2. Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis. Peng J, et al. Mol Med Rep, 2021 Jul. PMID 34036378, Free PMC Article
    3. Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-κB-mediated cytokine production. Yamamoto S, et al. Biochem Biophys Res Commun, 2017 Feb 12. PMID 27998764
    4. Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer. Hong MJ, et al. Thorac Cancer, 2018 Aug. PMID 29806744, Free PMC Article
    5. NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat shock protein 60. Yamamoto S, et al. Biochem Biophys Res Commun, 2017 Feb 12. PMID 28011268

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis.
      Title: Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis.
    2. NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues.
      Title: NIPSNAP1 and NIPSNAP2 Act as "Eat Me" Signals for Mitophagy.
    3. Results show that the rs9642391C>G variant, which is located in the intron region of EGFR, is associated with GBAS expression and survival outcomes in surgically resected early-stage non-small cell lung cancer patients.
      Title: Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer.
    4. identified mitochondrial proteins 4-nitrophenylphosphatase domain and non-neuronal synaptosomal associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 as clarithromycin-binding proteins. Production of proinflammatory cytokines induced by lipopolysaccharides and Pam3-CSK4 in epithelial cell lines BEAS-2B and T24 were suppressed by knockdown of NIP-SNAP-1 or -2
      Title: Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-κB-mediated cytokine production.
    5. NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2.
      Title: NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat shock protein 60.
    6. GBAS mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies.
      Title: Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.
    7. CHCHD10 and GBAS are involved in oxidative phosphorylation.
      Title: Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of glioblastoma amplified sequence (GBAS) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of high voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein NipSnap homolog 2
    Names
    4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2
    glioblastoma amplified sequence

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001202469.2 → NP_001189398.1  protein NipSnap homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_001189398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two exons in the coding region, which result in a frameshift and then resumption of the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK097049, BC030821, BU753659, CX166452
      Consensus CDS
      CCDS56488.1
      UniProtKB/Swiss-Prot
      O75323
      Related
      ENSP00000406855.1, ENST00000446778.5
      Conserved Domains (1) summary
      pfam07978
      Location:148 → 245
      NIPSNAP; NIPSNAP

    2. NM_001483.3 → NP_001474.1  protein NipSnap homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_001474.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC030821, BU753659, CX166452
      Consensus CDS
      CCDS5521.1
      UniProtKB/Swiss-Prot
      C9IYJ3, O43801, O75323, Q53X96
      Related
      ENSP00000313050.3, ENST00000322090.8
      Conserved Domains (1) summary
      pfam07978
      Location:187 → 284
      NIPSNAP

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      55964585..56000179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      56124373..56159980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75323.1 GenPept UniProtKB/Swiss-Prot:O75323

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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