NIPSNAP2 - nipsnap homolog 2 Gene

Also Known as GBAS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2631

About NIPSNAP2

Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:55,964,585-56,000,179 (from NCBI)

This gene has 11 transcripts (splice variants), 278 orthologues and 3 paralogues. Ubiquitous expression in heart (RPKM 42.1), thyroid (RPKM 22.8) and 24 other tissues.

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]

NIPSNAP2 Products (2)

mRNA Protein Name
NM_001202469.2 NP_001189398.1 protein NipSnap homolog 2 isoform 2
NM_001483.3 NP_001474.1 protein NipSnap homolog 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
20562859 GOA
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
30982665 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mitochondrion organization IMP
IMP: Inferred from mutant phenotype
20888800 GOA
involved in mitophagy IDA
IDA: Inferred from direct assay
30982665 GOA
involved in oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
20888800 GOA
Cellular Component GO Annotation Evidence Verweise Source
is active in mitochondrial matrix IDA
IDA: Inferred from direct assay
30982665 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
26387735 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NIPSNAP2 Protein Structure

NIPSNAP

NIPSNAP: NIPSNAP (187 - 284)

  • 0
  • 100
  • 200
  • 286 a.a.
Protein Preferred Names Protein Names

protein NipSnap homolog 2

  • 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2

NIPSNAP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
NIPSNAP2 O75323 MAP1LC3C Homo sapiens Q9BXW4
Pull Down
20562859
Intra
NIPSNAP2 O75323 MAP1LC3B Homo sapiens Q9GZQ8
Pull Down
20562859
Intra
NIPSNAP2 O75323 GABARAP Homo sapiens O95166
Pull Down
20562859
Intra
NIPSNAP2 O75323 GABARAPL2 Homo sapiens P60520
Pull Down
20562859
Intra
NIPSNAP2 O75323 GABARAPL1 Homo sapiens Q9H0R8
Pull Down
20562859
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Phosphoserine Phosphatase Deficiency

  • PSPHD

  • Deficiency Of Phosphoserine Phosphatase

  • Psph Deficiency

  • 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form

  • Psph Deficiency, Infantile/Juvenile Form

  • Deficiency, Phosphoserine Phosphatase
Mast Syndrome

  • SPG21

  • Spastic Paraplegia 21, Autosomal Recessive

  • Autosomal Recessive Spastic Paraplegia Type 21

  • Autosomal Recessive Spastic Paraplegia 21

  • Hereditary Spastic Paraplegia 21
Myxosarcoma
Hyperuricemia, Hprt-Related

  • Hprt-Related Gout

  • Kelley-Seegmiller Syndrome

  • Hprt Deficiency, Partial

  • HRH

  • Gout, Hprt-Related

  • Hprt1 Deficiency, Partial

  • Hrpt-Related Hyperuricemia

  • Hprt Deficiency, Grade I

  • Hprt Partial Deficiency

  • Hprt-Related Hyperuricemia

  • Hprt1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

  • Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

  • Hyperuricemia, Hrpt-Related
Serine Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-184089 ATB1071 / Unkown
HY-RS09307 NIPSNAP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta NIPSNAP2 VGNC VGNC:75293
Canis familiaris NIPSNAP2 VGNC VGNC:43821
Bos taurus NIPSNAP2 VGNC VGNC:32087
Felis catus NIPSNAP2 VGNC VGNC:63811
Rattus norvegicus NIPSNAP2 RGD RGD:1566421
Mus musculus NIPSNAP2 MGD MGI:1278343
Others NIPSNAP2 NCBI