ZNF346 - zinc finger protein 346 Gene

中文名称：锌指蛋白 346

种属: Homo sapiens

同用名: JAZ; Zfp346

基因 ID: 23567 | 基因类型: protein coding

关于 ZNF346

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:177,022,696-177,081,189 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues and 9 paralogues. Ubiquitous expression in ovary (RPKM 2.4), thyroid (RPKM 2.2) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种核仁锌指蛋白，优先结合双链 (ds) RNA 或 RNA/DNA 杂交体，而不是单独结合 DNA。突变研究表明，锌指结构域不仅是 dsRNA 结合所必需的，而且也是其核仁定位所必需的。编码的蛋白质可能参与细胞生长和存活。它通过刺激 p21 基因表达来抑制细胞周期再进入，从而起到保护神经元的作用。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2015 年 4 月]

The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ZNF346 基因产物(10)

mRNA	Protein	Name
NM_001308213.2	NP_001295142.1	zinc finger protein 346 isoform b
NM_001308214.2	NP_001295143.1	zinc finger protein 346 isoform c
NM_001308215.2	NP_001295144.1	zinc finger protein 346 isoform d
NM_001308216.2	NP_001295145.1	zinc finger protein 346 isoform e
NM_001308218.2	NP_001295147.1	zinc finger protein 346 isoform f
NM_001308219.2	NP_001295148.1	zinc finger protein 346 isoform g
NM_001308221.2	NP_001295150.1	zinc finger protein 346 isoform h
NM_001308223.2	NP_001295152.1	zinc finger protein 346 isoform h
NM_001363713.2	NP_001350642.1	zinc finger protein 346 isoform i
NM_012279.4	NP_036411.1	zinc finger protein 346 isoform a

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables double-stranded RNA binding	IDA IDA: 通过直接分析推断	10488071	GOA
enables enzyme binding	IPI IPI: 通过物理相互作用推断	23382074	GOA
enables miRNA binding	IDA IDA: 通过直接分析推断	28431233	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21903422	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleolus	IDA IDA: 通过直接分析推断	10488071	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10488071	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

ZNF346 蛋白结构

zf-met

0
100
200
294 a.a.

蛋白主名

其他名称

zinc finger protein 346

double-stranded RNA-binding zinc finger protein JAZ

ZNF346 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
Intra	ZNF346	Q9UL40	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	ZNF346	Q9UL40	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	ZNF346	Q9UL40	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	ZNF346	Q9UL40	KAT5	Homo sapiens	Q92993	Validated Y2H	32814053
Intra	ZNF346	Q9UL40	KAT5	Homo sapiens	Q92993	Y2H Pooling	32814053
Intra	ZNF346	Q9UL40	KAT5	Homo sapiens	Q92993	Y2H Array	32814053
Intra	ZNF346	Q9UL40	EIF2AK2	Homo sapiens	P19525	Anti Tag CoIP	21903422
Intra	ZNF346	Q9UL40	NKRF	Homo sapiens	O15226	Anti Tag CoIP	33961781
Intra	ZNF346	Q9UL40	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	ZNF346	Q9UL40	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	ZNF346	Q9UL40	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	ZNF346	Q9UL40	TARBP2	Homo sapiens	Q15633	Y2H Prey Pooling	25416956
Intra	ZNF346	Q9UL40	TARBP2	Homo sapiens	Q15633	Y2H Array	25416956

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

Ulna And Fibula, Absence Of, With Severe Limb Deficiency

Schinzel Phocomelia Syndrome	Aarrs
Limb/Pelvis-Hypoplasia/Aplasia Syndrome	LPHAS
Schinzel Type Phocomelia	Absence Of Ulna And Fibula With Severe Limb Deficiency
Al-Awadi/Raas-Rothschild Syndrome	Al Awadi-Raas-Rothschild Syndrome
Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome	Aplasia/Hypoplasia Of Limbs And Pelvis
Congenital Absence Of Ulna And Fibula	Severe Limb Deficit
Phocomelia, Schinzel Type	Al-Awadi-Raas-Rothschild Syndrome
Ulna And Fibula Absence Of With Severe Limb Deficiency	Limb Pelvis Hypoplasia Aplasia Syndrome
Limb/Pelvis/Uterus-Hypoplasia/Aplasia Syndrome	Ulna And Fibula, Absence Of, With Sever Limb Deficiency

Mite Infestation

Mite Infestations	Acariasis
Infestation By Mites Nos

Arthrogryposis Multiplex Congenita 2, Neurogenic Type

Arthrogryposis Multiplex Congenita, Neurogenic Type	Amcn
Arthrogryposis Multiplex Congenita Neurogenic Type	AMC2
Amc, Neurogenic Type	Neurogenic-Type Arthrogryposis Multiplex Congenita-2
Amc Neurogenic Type	Neurogenic Type Of Amc
Neurogenic Arthrogryposis Multiplex Congenita	Arthrogryposis Multiplex Congenita, Neurogenic

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3	FASPS3
Familial Advanced Sleep Phase Syndrome 3	Sleep Phase Syndrome, Advanced, Familial, Type 3

Parasitic Ectoparasitic Infectious Disease

Ectoparasitic Infestations

Ectoparasitism

Phenylketonuria

Phenylalanine Hydroxylase Deficiency	PKU
Pah Deficiency	Folling Disease
Maternal Phenylketonuria	Phenylketonurias
Oligophrenia Phenylpyruvica	Hyperphenylalaninemia, Non-Pku Mild
Folling'S Disease	Phenylalaninemia
Mild Phenylketonuria	Mild Pku
Variant Pku	Variant Phenylketonuria
Mpku	Deficiency Disease, Phenylalanine Hydroxylase
Phenylketonuria, Maternal	Phenylalanine Hydroxylase Deficiency Disease
Hyperphenylalaninemic Embryopathy	Maternal Pku
Maternal Hyperphenylalaninemia	Phenylketonuric Embryopathy
Hyperphenylalaninemia	HPA
Non-Phenylketonuria Hyperphenylalaninemia	NON-PKU HPA
Phenylketonuria Maternal	Classical Phenylketonuria
Hyperphenylalaninaemia	Pku - [Phenylketonuria]

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome	WTS
Mrxs6	X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome
Mrxswt	Wilson-Turner X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, Syndromic 6	Mental Retardation, X-Linked, With Gynecomastia And Obesity
Intellectual Disability, X-Linked, Syndromic 6	Intellectual Disability, X-Linked, With Gynecomastia And Obesity
Wilson Turner Intellectual Disability Syndrome	X-Linked Intellectual Disability - Gynecomastia - Obesity

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-RS16129	ZNF346 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	ZNF346	VGNC	VGNC:79034
Rattus norvegicus	ZNF346	RGD	RGD:1308068
Bos taurus	ZNF346	VGNC	VGNC:37254
Felis catus	ZNF346	VGNC	VGNC:102370
Canis familiaris	ZNF346	VGNC	VGNC:48706
Mus musculus	ZNF346	MGD	MGI:1349417

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