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NIPSNAP2 nipsnap homolog 2 [ Homo sapiens (human) ]

Gene ID: 2631, updated on 12-Oct-2019

Summary

Official Symbol
NIPSNAP2provided by HGNC
Official Full Name
nipsnap homolog 2provided by HGNC
Primary source
HGNC:HGNC:4179
See related
Ensembl:ENSG00000146729 MIM:603004
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

Genomic context

See NIPSNAP2 in Genome Data Viewer
Location:
7p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (55964585..56000179)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (56032270..56067875)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene FRA7A repeat instability region Neighboring gene zinc finger protein 713 Neighboring gene mitochondrial ribosomal protein S17 Neighboring gene phosphoserine phosphatase Neighboring gene small nucleolar RNA, H/ACA box 22B Neighboring gene chaperonin containing TCP1 subunit 6A

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001202469.2NP_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:148245
    NIPSNAP; NIPSNAP
  2. NM_001483.3NP_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
    O75323
    Related
    ENSP00000313050.3, ENST00000322090.8
    Conserved Domains (1) summary
    pfam07978
    Location:187284
    NIPSNAP; NIPSNAP

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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