NIPSNAP2
Protein NipSnap homolog 2
Also known as: GBAS, NIPS2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75323
- Gene
- NIPSNAP2
- Ensembl
- ENSG00000146729
- Chromosome
- 7
- Canonical length
- 286 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
286 residues, UniProt reviewed canonical sequence.
>O75323|NIPSNAP2
1 MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF VRKVDPRKDA
61 HSNLLAKKET SNLYKLQFHN VKPECLEAYN KICQEVLPKI HEDKHYPCTL VGTWNTWYGE
121 QDQAVHLWRY EGGYPALTEV MNKLRENKEF LEFRKARSDM LLSRKNQLLL EFSFWNEPVP
181 RSGPNIYELR SYQLRPGTMI EWGNYWARAI RFRQDGNEAV GGFFSQIGQL YMVHHLWAYR
241 DLQTREDIRN AAWHKHGWEE LVYYTVPLIQ EMESRIMIPL KTSPLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NIPSNAP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 733 nTPM
Expression across tissuesHPA
Tissue
- tongue: 733 nTPM
- skeletal muscle: 605 nTPM
- heart muscle: 249 nTPM
- thyroid gland: 81 nTPM
- salivary gland: 75 nTPM
- adrenal gland: 66 nTPM
Single-cell type
- myonuclei: 406 nCPM
- parietal cells: 389 nCPM
- thymic myoid cells: 250 nCPM
- fallopian tube ciliated cells: 216 nCPM
- respiratory ciliated cells: 216 nCPM
- choroid plexus epithelial cells: 213 nCPM
Immune cell
- myeloid DC: 92 nTPM
- classical monocyte: 87 nTPM
- intermediate monocyte: 86 nTPM
- total PBMC: 72 nTPM
- non-classical monocyte: 69 nTPM
- basophil: 48 nTPM
Brain region
- choroid plexus: 44 nTPM
- thalamus: 43 nTPM
- hypothalamus: 41 nTPM
- midbrain: 40 nTPM
- spinal cord: 40 nTPM
- basal ganglia: 38 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.12
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitochondrion organization
- mitophagy
- positive regulation of high voltage-gated calcium channel activity
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NIPSNAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NIPSNAP2 as an antibody target. Whether an autoantibody or antibody against NIPSNAP2 could matter depends on whether native NIPSNAP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NIPSNAP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NIPSNAP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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