ZNF462 - zinc finger protein 462 Gene

中文名称：锌指蛋白 462

种属: Homo sapiens

同用名: WSKA; ZFPIP; Zfp462

基因 ID: 58499 | 基因类型: protein coding

关于 ZNF462

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:106,860,158-107,013,634 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.5), thyroid (RPKM 2.5) and 23 other tissues.

功能概要

该基因编码的蛋白属于 C2H2 型锌指蛋白家族。它含有多个 C2H2 型锌指，可能参与转录调控。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

ZNF462 基因产物(2)

mRNA	Protein	Name
NM_001347997.2	NP_001334926.1	zinc finger protein 462 isoform 2
NM_021224.6	NP_067047.4	zinc finger protein 462 isoform 1

基因本体论

分子功能

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	27705803	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

ZNF462 蛋白结构

zf-H2C2_5

0
400
800
1200
1600
2000
2506 a.a.

蛋白主名

其他名称

zinc finger protein 462

zinc finger PBX1-interacting protein

ZNF462 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	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	32296183
种属内	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Prey Pooling	32296183
种属内	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	32296183
种属内	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	TAP	27705803
种属内	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Anti Tag CoIP	33961781

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

Weiss-Kruszka Syndrome

WSKA	Znf462 Disorder

Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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-RS16144	ZNF462 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	ZNF462	MGD	MGI:107690
Canis familiaris	ZNF462	VGNC	VGNC:48734
Felis catus	ZNF462	VGNC	VGNC:67309
Macaca mulatta	ZNF462	VGNC	VGNC:79331
Bos taurus	ZNF462	VGNC	VGNC:37280
Rattus norvegicus	ZNF462	RGD	RGD:1562123

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