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  2. ZC4H2 - zinc finger C4H2-type containing Gene

ZC4H2 - zinc finger C4H2-type containing Gene

中文名称:含锌指 C4H2 型

种属: Homo sapiens

同用名: MCS; WWS; WRWF; MRXS4; HCA127; WRWFFR; KIAA1166

基因 ID: 55906 | 基因类型: protein coding

关于 ZC4H2

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,915,807-65,034,741 (from NCBI)

This gene has 9 transcripts (splice variants), 220 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 4.1), endometrium (RPKM 3.2) and 25 other tissues.

功能概要

该基因编码含锌指结构域的蛋白质家族成员。这个家族成员有一个 C 端锌指结构域,其特征是四个半胱氨酸残基和两个组氨酸残基,它还包括一个卷曲螺旋区域。该蛋白已被检测为肝细胞癌患者的自身抗原。该基因已被确定为 X 连锁认知障碍的潜在候选基因。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ZC4H2 基因产物(4)

mRNA Protein Name
NM_001178032.3 NP_001171503.1 zinc finger C4H2 domain-containing protein isoform 2
NM_001178033.3 NP_001171504.1 zinc finger C4H2 domain-containing protein isoform 3
NM_001243804.2 NP_001230733.1 zinc finger C4H2 domain-containing protein isoform 2
NM_018684.4 NP_061154.1 zinc finger C4H2 domain-containing protein 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
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nervous system development IDA
IDA: 通过直接分析推断
23623388 GOA
acts upstream of or within positive regulation of DNA-binding transcription factor activity IGI
IGI: 通过遗传相互作用推断
32094113 GOA
involved in positive regulation of neuron differentiation IMP
IMP: 通过突变表型推断
26056227 GOA
acts upstream of or within protein monoubiquitination IGI
IGI: 通过遗传相互作用推断
32094113 GOA
acts upstream of or within regulation of transcription regulatory region DNA binding IGI
IGI: 通过遗传相互作用推断
32094113 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23623388 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23623388 GOA
located in postsynaptic membrane IDA
IDA: 通过直接分析推断
23623388 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
30177510 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

ZC4H2 蛋白结构

zf-C4H2

zf-C4H2: Zinc finger-containing protein (12 - 222)

  • 0
  • 100
  • 200
  • 224 a.a.
蛋白主名 其他名称

zinc finger C4H2 domain-containing protein

hepatocellular carcinoma-associated antigen 127

ZC4H2 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
ZC4H2 Q9NQZ6 ZNF250 Homo sapiens P15622-3
Validated Y2H
25416956
种属内
ZC4H2 Q9NQZ6 ZNF223 Homo sapiens Q9UK11
Y2H Array
31515488
种属内
ZC4H2 Q9NQZ6 ZNF490 Homo sapiens Q9ULM2
Y2H Array
25416956
种属内
ZC4H2 Q9NQZ6 ZNF490 Homo sapiens Q9ULM2
Validated Y2H
25416956
种属内
ZC4H2 Q9NQZ6 ZNF490 Homo sapiens Q9ULM2
Validated Y2H
32296183
种属内
ZC4H2 Q9NQZ6 ZNF490 Homo sapiens Q9ULM2
Y2H Array
31515488
种属内
ZC4H2 Q9NQZ6 KXD1 Homo sapiens Q9BQD3
Y2H Pooling
16189514
种属内
ZC4H2 Q9NQZ6 SORBS3 Homo sapiens O60504
Validated Y2H
25416956
种属内
ZC4H2 Q9NQZ6 SORBS3 Homo sapiens O60504
Y2H Array
25416956
种属内
ZC4H2 Q9NQZ6 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
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
Wieacker-Wolff Syndrome

Wieacker Syndrome

Contractures Of Feet, Muscle Atrophy, And Oculomotor Apraxia

WRWF

Apraxia, Oculomotor, With Congenital Contractures And Muscle Atrophy

Miles-Carpenter X-Linked Mental Retardation Syndrome

Mcs

Mrxs4

Intellectual Disability-Developmental Delay-Contractures Syndrome

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Wws

Wieacker Wolff Syndrome

Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome

Wieacker-Wolf Syndrome

Oculomotor Apraxia With Congenital Contractures And Muscle Atrophy

Wieacker-Wolff Syndrome, Female-Restricted

WRWFFR

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement

CFEOM3A

Fibrosis Of Extraocular Muscles, Congenital, 3a

Congenital Fibrosis Of The Extraocular Muscles 3a

Feom3 Locus

Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement

Feom3

Tubb3 Syndrome

Fibrosis Of Extraocular Muscles, Congenital, Type 3a

Carey-Fineman-Ziter Syndrome 1

Carey-Fineman-Ziter Syndrome

CFZS

Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

Cfz Syndrome

Carey Fineman Ziter Syndrome

Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

Myopathy-Moebius-Robin Syndrome

CFZS1

Moebius Sequence, Robin Complex, And Hypotonia

Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Nemaline Myopathy 4

Cap Myopathy 2

NEM4

Nemaline Myopathy 4, Autosomal Dominant

Nemaline Myopathy, Type 4

CAPM2

Cap Disease

Cap Myopathy Tpm2-Related

Tpm2-Related Nemaline Myopathy

Tpm2-Related Cap Myopathy

Myopathy, Nemaline, Type 4

Cap Myopathy

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Cataract 40

CTRCT40

Cataract 40 With Or Without Microcornea

Cct

Cataract, Congenital, X-Linked

Cataract 40, X-Linked

Cataract, Congenital, With Microcornea Or Slight Microphthalmia

Cxn

Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes

Cataract 40 X-Linked

Cataract Congenital X-Linked

Cataract, Total Congenital

Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes

Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes

X-Linked Congenital Cataract

Cataract, Type 40

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Sturge-Weber Syndrome

SWS

Encephalotrigeminal Angiomatosis

Encephalofacial Angiomatosis

Sturge-Weber-Dimitri Syndrome

Sturge-Weber-Krabbe Syndrome

Fourth Phacomatosis

Leptomeningeal Angiomatosis

Meningeal Capillary Angiomatosis

Sturge-Weber-Krabbe Angiomatosis

Sturge-Weber Syndrome, Somatic, Mosaic

Sws Type I - Facial And Leptomeningeal Angiomas

Sws Type Ii - Facial Angioma Alone, No Cns Involvement

Sws Type Iii - Isolated Leptomeningeal Angiomas

Sturge Weber Syndrome

Angiomatosis Aculoorbital-Thalamic Syndrome

Encephalofacial Hemangiomatosis

Encephalofacial Hemangiomatosis Syndrome

Meningo-Oculo-Facial Angiomatosis

Meningofacial Angiomatosis-Cerebral Calcification Syndrome

Neuroretinoangiomatosis

Phakomatosis, Sturge-Weber

Weber-Sturge-Dimitri Syndrome

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Scoliosis
Syndromic Intellectual Disability
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ZC4H2 VGNC VGNC:79462
Bos taurus ZC4H2 VGNC VGNC:37114
Rattus norvegicus ZC4H2 RGD RGD:1561708
Felis catus ZC4H2 VGNC VGNC:67193
Canis familiaris ZC4H2 VGNC VGNC:48564
Mus musculus ZC4H2 MGD MGI:2679294