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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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)

Cat. No.	상품명	효과	Purity	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