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Entry version 162 (07 Oct 2020)
Sequence version 3 (13 Jul 2010)
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Protein

Zinc finger homeobox protein 2

Gene

ZFHX2

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

Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri453 – 476C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri508 – 532C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri821 – 845C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri870 – 894C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1009 – 1032C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1191 – 1217C2H2-type 6PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri1248 – 1272C2H2-type 7PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1480 – 1503C2H2-type 8PROSITE-ProRule annotationAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi1595 – 1654Homeobox 1PROSITE-ProRule annotationAdd BLAST60
Zinc fingeri1670 – 1696C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST27
Zinc fingeri1769 – 1791C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
DNA bindingi1857 – 1916Homeobox 2PROSITE-ProRule annotationAdd BLAST60
DNA bindingi2065 – 2124Homeobox 3PROSITE-ProRule annotationAdd BLAST60
Zinc fingeri2451 – 2471C2H2-type 11; degeneratePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri2495 – 2519C2H2-type 12PROSITE-ProRule annotationAdd BLAST25

<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 functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9C0A1

<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%5Fand%5Ftaxonomy%5Fsection">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 homeobox protein 2
Alternative name(s):
Zinc finger homeodomain protein 2
Short name:
ZFH-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ZFHX2
Synonyms:KIAA1056, KIAA1762, ZNF409
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000136367.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20152, ZFHX2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617828, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C0A1

<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

Nucleus

<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

Marsili syndrome (MARSIS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness.
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_0811161913R → K in MARSIS. 1 PublicationCorresponds to variant dbSNP:rs1555344723EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
85446

MalaCards human disease database

More...
MalaCardsi
ZFHX2
MIMi147430, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136367

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9C0A1, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ZFHX2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669698

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000472431 – 2572Zinc finger homeobox protein 2Add BLAST2572

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9C0A1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C0A1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9C0A1

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

More...
PaxDbi
Q9C0A1

PeptideAtlas

More...
PeptideAtlasi
Q9C0A1

PRoteomics IDEntifications database

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PRIDEi
Q9C0A1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
79976 [Q9C0A1-1]
79977 [Q9C0A1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9C0A1

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

More...
PhosphoSitePlusi
Q9C0A1

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136367, Expressed in buccal mucosa cell and 143 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9C0A1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9C0A1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000136367, Tissue enhanced (brain, testis)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124533, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000413418

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9C0A1, protein

<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

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SMRi
Q9C0A1

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi605 – 710Pro-richPROSITE-ProRule annotationAdd BLAST106
Compositional biasi1061 – 1144Pro-richPROSITE-ProRule annotationAdd BLAST84
Compositional biasi1321 – 1471Pro-richPROSITE-ProRule annotationAdd BLAST151
Compositional biasi1699 – 1759Glu-richPROSITE-ProRule annotationAdd BLAST61
Compositional biasi1921 – 2018Pro-richPROSITE-ProRule annotationAdd BLAST98
Compositional biasi2193 – 2424Pro-richPROSITE-ProRule annotationAdd BLAST232

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri453 – 476C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri508 – 532C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri821 – 845C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri870 – 894C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1009 – 1032C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1191 – 1217C2H2-type 6PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri1248 – 1272C2H2-type 7PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1480 – 1503C2H2-type 8PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1670 – 1696C2H2-type 9; degeneratePROSITE-ProRule annotationAdd BLAST27
Zinc fingeri1769 – 1791C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri2451 – 2471C2H2-type 11; degeneratePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri2495 – 2519C2H2-type 12PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1146, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160537

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001401_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9C0A1

KEGG Orthology (KO)

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KOi
K09379

Identification of Orthologs from Complete Genome Data

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OMAi
TVFCCPY

Database of Orthologous Groups

More...
OrthoDBi
15351at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C0A1

TreeFam database of animal gene trees

More...
TreeFami
TF323288

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086, homeodomain, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003604, Matrin/U1-like-C_Znf_C2H2
IPR027028, ZFHX2
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

The PANTHER Classification System

More...
PANTHERi
PTHR45891:SF1, PTHR45891:SF1, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046, Homeodomain, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389, HOX, 3 hits
SM00355, ZnF_C2H2, 15 hits
SM00451, ZnF_U1, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689, SSF46689, 3 hits
SSF57667, SSF57667, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 3 hits
PS00028, ZINC_FINGER_C2H2_1, 9 hits
PS50157, ZINC_FINGER_C2H2_2, 5 hits

<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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0A1-1) [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
MATLNSASTT GTTPSPGHNA PSLPSDTFSS STPSDPVTKD PPAASSTSEN
60 70 80 90 100
MRSSEPGGQL LESGCGLVPP KEIGEPQEGP DCGHFPPNDP GVEKDKEQEE
110 120 130 140 150
EEEGLPPMDL SNHLFFTAGG EAYLVAKLSL PGGSELLLPK GFPWGEAGIK
160 170 180 190 200
EEPSLPFLAY PPPSHLTALH IQHGFDPIQG FSSSDQILSH DTSAPSPAAC
210 220 230 240 250
EERHGAFWSY QLAPNPPGDP KDGPMGNSGG NHVAVFWLCL LCRLGFSKPQ
260 270 280 290 300
AFMDHTQSHG VKLTPAQYQG LSGSPAVLQE GDEGCKALIS FLEPKLPARP
310 320 330 340 350
SSDIPLDNSS TVNMEANVAQ TEDGPPEAEV QALILLDEEV MALSPPSPPT
360 370 380 390 400
ATWDPSPTQA KESPVAAGEA GPDWFPEGQE EDGGLCPPLN QSSPTSKEGG
410 420 430 440 450
TLPAPVGSPE DPSDPPQPYR LADDYTPAPA AFQGLSLSSH MSLLHSRNSC
460 470 480 490 500
KTLKCPKCNW HYKYQQTLDV HMREKHPESN SHCSYCSAGG AHPRLARGES
510 520 530 540 550
YNCGYKPYRC DVCNYSTTTK GNLSIHMQSD KHLANLQGFQ AGPGGQGSPP
560 570 580 590 600
EASLPPSAGD KEPKTKSSWQ CKVCSYETNI SRNLRIHMTS EKHMQNVLML
610 620 630 640 650
HQGLPLGLPP GLMGPGPPPP PGATPTSPPE LFQYFGPQAL GQPQTPLAGP
660 670 680 690 700
GLRPDKPLEA QLLLNGFHHV GAPARKFPTS APGSLSPDAH LPPSQLLGSS
710 720 730 740 750
SDSLPTSPPP DDSLSLKVFR CLVCQAFSTD SLELLLYHCS IGRSLPEAEW
760 770 780 790 800
KEVAGDTHRC KLCCYGTQLK ANFQLHLKTD KHAQKYQLAA HLREGGGAMG
810 820 830 840 850
TPSPASLGDG APYGSVSPLH LRCNICDFES NSKEKMQLHA RGAAHEENSQ
860 870 880 890 900
IYKFLLDMEG AEAGAELGLY HCLLCAWETP SRLAVLQHLR TPAHRDAQAQ
910 920 930 940 950
RRLQLLQNGP TTEEGLAALQ SILSFSHGQL RTPGKAPVTP LAEPPTPEKD
960 970 980 990 1000
AQNKTEQLAS EETENKTGPS RDSANQTTVY CCPYCSFLSP ESSQVRAHTL
1010 1020 1030 1040 1050
SQHAVQPKYR CPLCQEQLVG RPALHFHLSH LHNVVPECVE KLLLVATTVE
1060 1070 1080 1090 1100
MTFTTKVLSA PTLSPLDNGQ EPPTHGPEPT PSRDQAAEGP NLTPEASPDP
1110 1120 1130 1140 1150
LPEPPLASVE VPDKPSGSPG QPPSPAPSPV PEPDAQAEDV APPPTMAEEE
1160 1170 1180 1190 1200
EGTTGELRSA EPAPADSRHP LTYRKTTNFA LDKFLDPARP YKCTVCKESF
1210 1220 1230 1240 1250
TQKNILLVHY NSVSHLHKMK KAAIDPSAPA RGEAGAPPTT TAATDKPFKC
1260 1270 1280 1290 1300
TVCRVSYNQS STLEIHMRSV LHQTRSRGTK TDSKIEGPER SQEEPKEGET
1310 1320 1330 1340 1350
EGEVGTEKKG PDTSGFISGL PFLSPPPPPL DLHRFPAPLF TPPVLPPFPL
1360 1370 1380 1390 1400
VPESLLKLQQ QQLLLPFYLH DLKVGPKLTL AGPAPVLSLP AATPPPPPQP
1410 1420 1430 1440 1450
PKAELAEREW ERPPMAKEGN EAGPSSPPDP LPNEAARTAA KALLENFGFE
1460 1470 1480 1490 1500
LVIQYNEGKQ AVPPPPTPPP PEALGGGDKL ACGACGKLFS NMLILKTHEE
1510 1520 1530 1540 1550
HVHRRFLPFE ALSRYAAQFR KSYDSLYPPL AEPPKPPDGS LDSPVPHLGP
1560 1570 1580 1590 1600
PFLVPEPEAG GTRAPEERSR AGGHWPIEEE ESSRGNLPPL VPAGRRFSRT
1610 1620 1630 1640 1650
KFTEFQTQAL QSFFETSAYP KDGEVERLAS LLGLASRVVV VWFQNARQKA
1660 1670 1680 1690 1700
RKNACEGGSM PTGGGTGGAS GCRRCHATFS CVFELVRHLK KCYDDQTLEE
1710 1720 1730 1740 1750
EEEEAERGEE EEEVEEEEVE EEQGLEPPAG PEGPLPEPPD GEELSQAEAT
1760 1770 1780 1790 1800
KAGGKEPEEK ATPSPSPAHT CDQCAISFSS QDLLTSHRRL HFLPSLQPSA
1810 1820 1830 1840 1850
PPQLLDLPLL VFGERNPLVA ATSPMPGPPL KRKHEDGSLS PTGSEAGGGG
1860 1870 1880 1890 1900
EGEPPRDKRL RTTILPEQLE ILYRWYMQDS NPTRKMLDCI SEEVGLKKRV
1910 1920 1930 1940 1950
VQVWFQNTRA RERKGQFRST PGGVPSPAVK PPATATPASL PKFNLLLGKV
1960 1970 1980 1990 2000
DDGTGREAPK REAPAFPYPT ATLASGPQPF LPPGKEATTP TPEPPLPLLP
2010 2020 2030 2040 2050
PPPPSEEEGP EEPPKASPES EACSLSAGDL SDSSASSLAE PESPGAGGTS
2060 2070 2080 2090 2100
GGPGGGTGVP DGMGQRRYRT QMSSLQLKIM KACYEAYRTP TMQECEVLGE
2110 2120 2130 2140 2150
EIGLPKRVIQ VWFQNARAKE KKAKLQGTAA GSTGGSSEGL LAAQRTDCPY
2160 2170 2180 2190 2200
CDVKYDFYVS CRGHLFSRQH LAKLKEAVRA QLKSESKCYD LAPAPEAPPA
2210 2220 2230 2240 2250
LKAPPATTPA SMPLGAAPTL PRLAPVLLSG PALAQPPLGN LAPFNSGPAA
2260 2270 2280 2290 2300
SSGLLGLATS VLPTTTVVQT AGPGRPLPQR PMPDQTNTST AGTTDPVPGP
2310 2320 2330 2340 2350
PTEPLGDKVS SERKPVAGPT SSSNDALKNL KALKTTVPAL LGGQFLPFPL
2360 2370 2380 2390 2400
PPAGGTAPPA VFGPQLQGAY FQQLYGMKKG LFPMNPMIPQ TLIGLLPNAL
2410 2420 2430 2440 2450
LQPPPQPPEP TATAPPKPPE LPAPGEGEAG EVDELLTGST GISTVDVTHR
2460 2470 2480 2490 2500
YLCRQCKMAF DGEAPATAHQ RSFCFFGRGS GGSMPPPLRV PICTYHCLAC
2510 2520 2530 2540 2550
EVLLSGREAL ASHLRSSAHR RKAAPPQGGP PISITNAATA ASAAVAFAKE
2560 2570
EARLPHTDSN PKTTTTSTLL AL
Length:2,572
Mass (Da):274,176
Last modified:July 13, 2010 - v3
<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:i239C8050F65B25C2
GO
Isoform 2 (identifier: Q9C0A1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     854-862: FLLDMEGAE → RTETGLLIK
     863-2572: Missing.

Show »
Length:862
Mass (Da):91,826
Checksum:i4F3A14A941E610B7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2RRC6A2RRC6_HUMAN
ZFHX2 protein
ZFHX2
408Annotation score:

Annotation score:2 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>
C9JSX6C9JSX6_HUMAN
Zinc finger homeobox protein 2
ZFHX2
361Annotation score:

Annotation score:1 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>
G3V3N5G3V3N5_HUMAN
Zinc finger homeobox protein 2
ZFHX2
246Annotation score:

Annotation score:1 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>

<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 BAA83008 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti473R → Q in BAA83008 (PubMed:11214970).Curated1
Sequence conflicti550P → T in BAA83008 (PubMed:11214970).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0811161913R → K in MARSIS. 1 PublicationCorresponds to variant dbSNP:rs1555344723EnsemblClinVar.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_039496854 – 862FLLDMEGAE → RTETGLLIK in isoform 2. 1 Publication9
Alternative sequenceiVSP_039497863 – 2572Missing in isoform 2. 1 PublicationAdd BLAST1710

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

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DDBJi
Links Updated
AB028979 mRNA Translation: BAA83008.2 Different initiation.
AB051549 mRNA Translation: BAB21853.1
AL132855 Genomic DNA No translation available.
AL135999 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS55907.1 [Q9C0A1-1]

NCBI Reference Sequences

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RefSeqi
NP_207646.2, NM_033400.2 [Q9C0A1-1]
XP_011535547.1, XM_011537245.2 [Q9C0A1-1]
XP_011535548.1, XM_011537246.2 [Q9C0A1-1]
XP_011535549.1, XM_011537247.2 [Q9C0A1-1]
XP_016877203.1, XM_017021714.1 [Q9C0A1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000419474; ENSP00000413418; ENSG00000136367 [Q9C0A1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
85446

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:85446

UCSC genome browser

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UCSCi
uc010tno.2, human [Q9C0A1-1]

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
AB028979 mRNA Translation: BAA83008.2 Different initiation.
AB051549 mRNA Translation: BAB21853.1
AL132855 Genomic DNA No translation available.
AL135999 Genomic DNA No translation available.
CCDSiCCDS55907.1 [Q9C0A1-1]
RefSeqiNP_207646.2, NM_033400.2 [Q9C0A1-1]
XP_011535547.1, XM_011537245.2 [Q9C0A1-1]
XP_011535548.1, XM_011537246.2 [Q9C0A1-1]
XP_011535549.1, XM_011537247.2 [Q9C0A1-1]
XP_016877203.1, XM_017021714.1 [Q9C0A1-1]

3D structure databases

SMRiQ9C0A1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124533, 6 interactors
STRINGi9606.ENSP00000413418

PTM databases

iPTMnetiQ9C0A1
PhosphoSitePlusiQ9C0A1

Polymorphism and mutation databases

BioMutaiZFHX2
DMDMi300669698

Proteomic databases

EPDiQ9C0A1
jPOSTiQ9C0A1
MassIVEiQ9C0A1
PaxDbiQ9C0A1
PeptideAtlasiQ9C0A1
PRIDEiQ9C0A1
ProteomicsDBi79976 [Q9C0A1-1]
79977 [Q9C0A1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
51729, 41 antibodies

Genome annotation databases

EnsembliENST00000419474; ENSP00000413418; ENSG00000136367 [Q9C0A1-1]
GeneIDi85446
KEGGihsa:85446
UCSCiuc010tno.2, human [Q9C0A1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
85446
DisGeNETi85446
EuPathDBiHostDB:ENSG00000136367.13

GeneCards: human genes, protein and diseases

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GeneCardsi
ZFHX2
HGNCiHGNC:20152, ZFHX2
HPAiENSG00000136367, Tissue enhanced (brain, testis)
MalaCardsiZFHX2
MIMi147430, phenotype
617828, gene
neXtProtiNX_Q9C0A1
OpenTargetsiENSG00000136367

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1146, Eukaryota
GeneTreeiENSGT00940000160537
HOGENOMiCLU_001401_1_0_1
InParanoidiQ9C0A1
KOiK09379
OMAiTVFCCPY
OrthoDBi15351at2759
PhylomeDBiQ9C0A1
TreeFamiTF323288

Enzyme and pathway databases

PathwayCommonsiQ9C0A1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
85446, 7 hits in 874 CRISPR screens

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

More...
ChiTaRSi
ZFHX2, human

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

More...
GenomeRNAii
85446
PharosiQ9C0A1, Tdark

Protein Ontology

More...
PROi
PR:Q9C0A1
RNActiQ9C0A1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136367, Expressed in buccal mucosa cell and 143 other tissues
ExpressionAtlasiQ9C0A1, baseline and differential
GenevisibleiQ9C0A1, HS

Family and domain databases

CDDicd00086, homeodomain, 3 hits
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003604, Matrin/U1-like-C_Znf_C2H2
IPR027028, ZFHX2
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type
PANTHERiPTHR45891:SF1, PTHR45891:SF1, 1 hit
PfamiView protein in Pfam
PF00046, Homeodomain, 3 hits
SMARTiView protein in SMART
SM00389, HOX, 3 hits
SM00355, ZnF_C2H2, 15 hits
SM00451, ZnF_U1, 7 hits
SUPFAMiSSF46689, SSF46689, 3 hits
SSF57667, SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 3 hits
PS00028, ZINC_FINGER_C2H2_1, 9 hits
PS50157, ZINC_FINGER_C2H2_2, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiZFHX2_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: Q9C0A1
Secondary accession number(s): Q9UPU6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 12, 2003
Last sequence update: July 13, 2010
Last modified: October 7, 2020
This is version 162 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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