NIPSNAP2 - nipsnap homolog 2 Gene

中文名称：nipsnap 同系物 2

种属: Homo sapiens

同用名: GBAS

基因 ID: 2631 | 基因类型: protein coding

关于 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.

功能概要

该基因编码可能参与水泡运输的 NipSnap 蛋白家族成员。编码的蛋白质定位于线粒体，并在氧化磷酸化中发挥作用。该基因的假基因位于 2 号染色体的长臂上。已观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	20562859	GOA
enables protein-macromolecule adaptor activity	IDA IDA: 通过直接分析推断	30982665	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrion organization	IMP IMP: 通过突变表型推断	20888800	GOA
involved in mitophagy	IDA IDA: 通过直接分析推断	30982665	GOA
involved in oxidative phosphorylation	IMP IMP: 通过突变表型推断	20888800	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in mitochondrial matrix	IDA IDA: 通过直接分析推断	30982665	GOA
located in mitochondrial outer membrane	IDA IDA: 通过直接分析推断	26387735	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NIPSNAP2 蛋白结构

NIPSNAP

0
100
200
286 a.a.

蛋白主名

其他名称

protein NipSnap homolog 2

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

NIPSNAP2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NIPSNAP2	O75323	MAP1LC3C	Homo sapiens	Q9BXW4	Pull Down	20562859
种属内	NIPSNAP2	O75323	MAP1LC3B	Homo sapiens	Q9GZQ8	Pull Down	20562859
种属内	NIPSNAP2	O75323	GABARAP	Homo sapiens	O95166	Pull Down	20562859
种属内	NIPSNAP2	O75323	GABARAPL2	Homo sapiens	P60520	Pull Down	20562859
种属内	NIPSNAP2	O75323	GABARAPL1	Homo sapiens	Q9H0R8	Pull Down	20562859

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09307	NIPSNAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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