NIPSNAP2 - nipsnap homolog 2 Gene

Homo sapiens

Also known as GBAS

Gene ID: 2631 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09307	NIPSNAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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