• Gene id: 2631

Gene Summary

• Gene Symbol: NIPSNAP2   Gene   UCSC   Ensembl
• Aliases: GBAS
• Gene name: nipsnap homolog 2
• Alternate names: protein NipSnap homolog 2, 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2, glioblastoma amplified sequence,
• Gene location: 7p11.2 (55964584: 56000178)     Exons: 13     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 603004

Protein Summary

• Protein general information: O75323  
  • Name: Protein NipSnap homolog 2 (NipSnap2) (Glioblastoma amplified sequence)
  • Length: 286  
  • Mass: 33743
  • Tissue specificity: Widely expressed. Most abundant in heart and skeletal muscle.
• Sequence:

  MAARVLRARGAAWAGGLLQRAAPCSLLPRLRTWTSSSNRSREDSWLKSLFVRKVDPRKDAHSNLLAKKETSNLYK
  LQFHNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYGEQDQAVHLWRYEGGYPALTEVMNKLRENKEF
  LEFRKARSDMLLSRKNQLLLEFSFWNEPVPRSGPNIYELRSYQLRPGTMIEWGNYWARAIRFRQDGNEAVGGFFS
  QIGQLYMVHHLWAYRDLQTREDIRNAAWHKHGWEELVYYTVPLIQEMESRIMIPLKTSPLQ

• Structural information:
  • Interpro: IPR011008  IPR012577  
  • DIP: 33564
  • STRING: ENSP00000313050
• Other Databases: GeneCards:  NIPSNAP2  Malacards:  NIPSNAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:1901843	positive regulation of high voltage-gated calcium channel activity	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007005	mitochondrion organization	IMP	biological process
GO:0006119	oxidative phosphorylation	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0005739	mitochondrion	ISS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)