ZC4H2 - zinc finger C4H2-type containing Gene

Homo sapiens

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

Gene ID: 55906 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.