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Entry version 142 (31 Jul 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Zinc finger C4H2 domain-containing protein

Gene

ZC4H2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in interneurons differentiation (PubMed:26056227). Involved in neuronal development and in neuromuscular junction formation.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri189 – 206C4H2-typePROSITE-ProRule annotationAdd BLAST18

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation
LigandMetal-binding, Zinc

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger C4H2 domain-containing protein
Alternative name(s):
Hepatocellular carcinoma-associated antigen 127
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZC4H2
Synonyms:HCA127, KIAA1166
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24931 ZC4H2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300897 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQZ6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Wieacker-Wolf syndrome (WRWF)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07939718R → K in WRWF; no effect on subcellular localization; no loss of function; rescues interneurons differentiation when expressed in a zebrafish heterologous system. 1 Publication1
Natural variantiVAR_06962163V → L in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs398122938EnsemblClinVar.1
Natural variantiVAR_07939866L → H in WRWF; no effect on subcellular localization; partial loss of function; rescues partially interneurons differentiation when expressed in a zebrafish heterologous system. 1 PublicationCorresponds to variant dbSNP:rs1057520297EnsemblClinVar.1
Natural variantiVAR_069622198R → Q in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs879255235EnsemblClinVar.1
Natural variantiVAR_069623201P → S in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs398122939EnsemblClinVar.1
Natural variantiVAR_069624213R → W in WRWF; increased cytoplasmic subcellular localization; partial loss of function; rescues partially interneurons differentiation when expressed in a zebrafish heterologous system. 2 PublicationsCorresponds to variant dbSNP:rs879255236EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55906

MalaCards human disease database

More...
MalaCardsi
ZC4H2
MIMi314580 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000126970

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
3454 Intellectual disability-developmental delay-contractures syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164727643

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ZC4H2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
41688815

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000839111 – 224Zinc finger C4H2 domain-containing proteinAdd BLAST224

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NQZ6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NQZ6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NQZ6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NQZ6

PeptideAtlas

More...
PeptideAtlasi
Q9NQZ6

PRoteomics IDEntifications database

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PRIDEi
Q9NQZ6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
32368
82234 [Q9NQZ6-1]
82235 [Q9NQZ6-2]
82236 [Q9NQZ6-3]
82237 [Q9NQZ6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQZ6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NQZ6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle (PubMed:23623388). Isoform 1 is expressed in numerous fetal brain regions. Isoform 3 is highly expressed in numerous fetal brain regions and spinal cord (PubMed:26056227).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000126970 Expressed in 154 organ(s), highest expression level in frontal cortex

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQZ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049584

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120992, 18 interactors

Protein interaction database and analysis system

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IntActi
Q9NQZ6, 21 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000363972

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NQZ6

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili11 – 104Sequence analysisAdd BLAST94

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri189 – 206C4H2-typePROSITE-ProRule annotationAdd BLAST18

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4451 Eukaryota
ENOG4111GRM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018389

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000118077

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQZ6

Identification of Orthologs from Complete Genome Data

More...
OMAi
AEWRVEV

Database of Orthologous Groups

More...
OrthoDBi
1316216at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQZ6

TreeFam database of animal gene trees

More...
TreeFami
TF315275

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR018482 Znf-C4H2

The PANTHER Classification System

More...
PANTHERi
PTHR31058 PTHR31058, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10146 zf-C4H2, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51896 ZF_C4H2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NQZ6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ
60 70 80 90 100
EMDLLLQEKM AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE
110 120 130 140 150
YKPLKEHVDA LRMTLGLQRL PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP
160 170 180 190 200
IPESLAAAAA AAQQLQVARK QDTRQTATFR QQPPPMKACL SCHQQIHRNA
210 220
PICPLCKAKS RSRNPKKPKR KQDE
Length:224
Mass (Da):26,244
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB8392407FB4A2012
GO
Isoform 2 (identifier: Q9NQZ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-133: D → E
     134-224: Missing.

Note: No experimental confirmation available.
Show »
Length:133
Mass (Da):15,886
Checksum:i63578CC8A2BE1FC1
GO
Isoform 3 (identifier: Q9NQZ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Note: No experimental confirmation available.
Show »
Length:201
Mass (Da):23,511
Checksum:iAC9969EFA7DC4E87
GO
Isoform 4 (identifier: Q9NQZ6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-224: DYFEKQKAEW...PKKPKRKQDE → EPACHVTSKF...SRMNKEREST

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):20,643
Checksum:i2D84A7C99B29EB56
GO
Isoform 5 (identifier: Q9NQZ6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MADEQEIMCKLESIKEI → MIHFHLIFLYVA

Note: No experimental confirmation available.
Show »
Length:219
Mass (Da):25,738
Checksum:i0885738789AE41B7
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86480 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti27I → V in BAG53957 (Ref. 4) Curated1
Sequence conflicti52M → T in BAG53957 (Ref. 4) Curated1
Sequence conflicti150P → S in BAD96428 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07939718R → K in WRWF; no effect on subcellular localization; no loss of function; rescues interneurons differentiation when expressed in a zebrafish heterologous system. 1 Publication1
Natural variantiVAR_06962163V → L in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs398122938EnsemblClinVar.1
Natural variantiVAR_07939866L → H in WRWF; no effect on subcellular localization; partial loss of function; rescues partially interneurons differentiation when expressed in a zebrafish heterologous system. 1 PublicationCorresponds to variant dbSNP:rs1057520297EnsemblClinVar.1
Natural variantiVAR_069622198R → Q in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs879255235EnsemblClinVar.1
Natural variantiVAR_069623201P → S in WRWF; causes a decrease in synapse number and density. 1 PublicationCorresponds to variant dbSNP:rs398122939EnsemblClinVar.1
Natural variantiVAR_069624213R → W in WRWF; increased cytoplasmic subcellular localization; partial loss of function; rescues partially interneurons differentiation when expressed in a zebrafish heterologous system. 2 PublicationsCorresponds to variant dbSNP:rs879255236EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0134691 – 23Missing in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_0475881 – 17MADEQ…SIKEI → MIHFHLIFLYVA in isoform 5. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_042513133 – 224DYFEK…RKQDE → EPACHVTSKFTGMHLYALFA RPRVGPGTPKSRNGSRMNKE REST in isoform 4. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_008517133D → E in isoform 2. 1 Publication1
Alternative sequenceiVSP_008518134 – 224Missing in isoform 2. 1 PublicationAdd BLAST91

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF270491 mRNA Translation: AAF75787.1
AB032992 mRNA Translation: BAA86480.1 Different initiation.
AK022807 mRNA Translation: BAB14252.1
AK022918 mRNA Translation: BAB14308.1
AK315485 mRNA Translation: BAG37869.1
AK123763 mRNA Translation: BAG53957.1
AK293570 mRNA Translation: BAG57041.1
AK222708 mRNA Translation: BAD96428.1
AL355606 Genomic DNA No translation available.
CH471132 Genomic DNA Translation: EAX05408.1
CH471132 Genomic DNA Translation: EAX05409.1
BC004411 mRNA Translation: AAH04411.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14380.1 [Q9NQZ6-1]
CCDS55431.1 [Q9NQZ6-3]
CCDS55432.1 [Q9NQZ6-4]

NCBI Reference Sequences

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RefSeqi
NP_001171503.1, NM_001178032.2 [Q9NQZ6-3]
NP_001171504.1, NM_001178033.2 [Q9NQZ6-4]
NP_001230733.1, NM_001243804.1 [Q9NQZ6-3]
NP_061154.1, NM_018684.3 [Q9NQZ6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337990; ENSP00000338650; ENSG00000126970 [Q9NQZ6-3]
ENST00000374839; ENSP00000363972; ENSG00000126970 [Q9NQZ6-1]
ENST00000447788; ENSP00000399126; ENSG00000126970 [Q9NQZ6-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55906

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55906

UCSC genome browser

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UCSCi
uc004dvu.4 human [Q9NQZ6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF270491 mRNA Translation: AAF75787.1
AB032992 mRNA Translation: BAA86480.1 Different initiation.
AK022807 mRNA Translation: BAB14252.1
AK022918 mRNA Translation: BAB14308.1
AK315485 mRNA Translation: BAG37869.1
AK123763 mRNA Translation: BAG53957.1
AK293570 mRNA Translation: BAG57041.1
AK222708 mRNA Translation: BAD96428.1
AL355606 Genomic DNA No translation available.
CH471132 Genomic DNA Translation: EAX05408.1
CH471132 Genomic DNA Translation: EAX05409.1
BC004411 mRNA Translation: AAH04411.1
CCDSiCCDS14380.1 [Q9NQZ6-1]
CCDS55431.1 [Q9NQZ6-3]
CCDS55432.1 [Q9NQZ6-4]
RefSeqiNP_001171503.1, NM_001178032.2 [Q9NQZ6-3]
NP_001171504.1, NM_001178033.2 [Q9NQZ6-4]
NP_001230733.1, NM_001243804.1 [Q9NQZ6-3]
NP_061154.1, NM_018684.3 [Q9NQZ6-1]

3D structure databases

SMRiQ9NQZ6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120992, 18 interactors
IntActiQ9NQZ6, 21 interactors
STRINGi9606.ENSP00000363972

PTM databases

iPTMnetiQ9NQZ6
PhosphoSitePlusiQ9NQZ6

Polymorphism and mutation databases

BioMutaiZC4H2
DMDMi41688815

Proteomic databases

EPDiQ9NQZ6
jPOSTiQ9NQZ6
MaxQBiQ9NQZ6
PaxDbiQ9NQZ6
PeptideAtlasiQ9NQZ6
PRIDEiQ9NQZ6
ProteomicsDBi32368
82234 [Q9NQZ6-1]
82235 [Q9NQZ6-2]
82236 [Q9NQZ6-3]
82237 [Q9NQZ6-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55906
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337990; ENSP00000338650; ENSG00000126970 [Q9NQZ6-3]
ENST00000374839; ENSP00000363972; ENSG00000126970 [Q9NQZ6-1]
ENST00000447788; ENSP00000399126; ENSG00000126970 [Q9NQZ6-4]
GeneIDi55906
KEGGihsa:55906
UCSCiuc004dvu.4 human [Q9NQZ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55906
DisGeNETi55906

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ZC4H2
HGNCiHGNC:24931 ZC4H2
HPAiHPA049584
MalaCardsiZC4H2
MIMi300897 gene
314580 phenotype
neXtProtiNX_Q9NQZ6
OpenTargetsiENSG00000126970
Orphaneti3454 Intellectual disability-developmental delay-contractures syndrome
PharmGKBiPA164727643

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4451 Eukaryota
ENOG4111GRM LUCA
GeneTreeiENSGT00390000018389
HOGENOMiHOG000118077
InParanoidiQ9NQZ6
OMAiAEWRVEV
OrthoDBi1316216at2759
PhylomeDBiQ9NQZ6
TreeFamiTF315275

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ZC4H2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KIAA1166

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55906

Protein Ontology

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PROi
PR:Q9NQZ6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000126970 Expressed in 154 organ(s), highest expression level in frontal cortex
GenevisibleiQ9NQZ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR018482 Znf-C4H2
PANTHERiPTHR31058 PTHR31058, 1 hit
PfamiView protein in Pfam
PF10146 zf-C4H2, 1 hit
PROSITEiView protein in PROSITE
PS51896 ZF_C4H2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZC4H2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NQZ6
Secondary accession number(s): B2RDC2
, B3KVZ5, B4DED0, E7EM74, G3V1L3, Q53H73, Q5JTF9, Q9H9C3, Q9H9H7, Q9ULQ4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 1, 2000
Last modified: July 31, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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