ZC4H2 - zinc finger C4H2-type containing Gene

Also Known as MCS; WWS; WRWF; MRXS4; HCA127; WRWFFR; KIAA1166

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55906

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nervous system development	IDA IDA: Inferred from direct assay	23623388	GOA
acts upstream of or within positive regulation of DNA-binding transcription factor activity	IGI IGI: Inferred from genetic interaction	32094113	GOA
involved in positive regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	26056227	GOA
acts upstream of or within protein monoubiquitination	IGI IGI: Inferred from genetic interaction	32094113	GOA
acts upstream of or within regulation of transcription regulatory region DNA binding	IGI IGI: Inferred from genetic interaction	32094113	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23623388	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23623388	GOA
located in postsynaptic membrane	IDA IDA: Inferred from direct assay	23623388	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	30177510	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

ZC4H2 Protein Structure

zf-C4H2

0
100
200
224 a.a.

Protein Preferred Names	Protein Names
zinc finger C4H2 domain-containing protein	hepatocellular carcinoma-associated antigen 127

ZC4H2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ZC4H2	Q9NQZ6	ZNF250	Homo sapiens	P15622-3	Validated Y2H	25416956
Intra	ZC4H2	Q9NQZ6	ZNF223	Homo sapiens	Q9UK11	Y2H Array	31515488
Intra	ZC4H2	Q9NQZ6	ZNF490	Homo sapiens	Q9ULM2	Y2H Array	25416956
Intra	ZC4H2	Q9NQZ6	ZNF490	Homo sapiens	Q9ULM2	Validated Y2H	25416956
Intra	ZC4H2	Q9NQZ6	ZNF490	Homo sapiens	Q9ULM2	Validated Y2H	32296183
Intra	ZC4H2	Q9NQZ6	ZNF490	Homo sapiens	Q9ULM2	Y2H Array	31515488
Intra	ZC4H2	Q9NQZ6	KXD1	Homo sapiens	Q9BQD3	Y2H Pooling	16189514
Intra	ZC4H2	Q9NQZ6	SORBS3	Homo sapiens	O60504	Validated Y2H	25416956
Intra	ZC4H2	Q9NQZ6	SORBS3	Homo sapiens	O60504	Y2H Array	25416956
Intra	ZC4H2	Q9NQZ6	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15999	ZC4H2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ZC4H2	NCBI