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Entry version 136 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Grainyhead-like protein 2 homolog

Gene

GRHL2

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

Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293).By similarity1 Publication6 Publications

Miscellaneous

GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei423Important for activation of transcription1 Publication1

<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 functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6ISB3

<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:
Grainyhead-like protein 2 homolog
Alternative name(s):
Brother of mammalian grainyhead
Transcription factor CP2-like 3
<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:GRHL2
Synonyms:BOM, TFCP2L3
<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 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2799 GRHL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608576 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ISB3

<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

Membrane, 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

Deafness, autosomal dominant, 28 (DFNA28)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.
Related information in OMIM
Ectodermal dysplasia/short stature syndrome (ECTDS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature.
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_071989398Y → H in ECTDS. 1 PublicationCorresponds to variant dbSNP:rs587777737EnsemblClinVar.1
Natural variantiVAR_071990482I → K in ECTDS; reduced expression; altered cell morphology; impaired tight junctions; adhesion defects; cytoplasmic translocation. 1 PublicationCorresponds to variant dbSNP:rs587777738EnsemblClinVar.1
Corneal dystrophy, posterior polymorphous, 4 (PPCD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi423R → A or Q: Loss of activity as transcriptional activator. 1 Publication1

Keywords - Diseasei

Corneal dystrophy, Deafness, Disease mutation, Dwarfism, Ectodermal dysplasia, Non-syndromic deafness

Organism-specific databases

DisGeNET

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DisGeNETi
79977

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GRHL2

MalaCards human disease database

More...
MalaCardsi
GRHL2
MIMi608641 phenotype
616029 phenotype
618031 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000083307

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

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
98973 Posterior polymorphous corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27270

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ISB3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GRHL2

Domain mapping of disease mutations (DMDM)

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DMDMi
74736618

<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_00002279941 – 625Grainyhead-like protein 2 homologAdd BLAST625

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6ISB3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6ISB3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6ISB3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6ISB3

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

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PaxDbi
Q6ISB3

PeptideAtlas

More...
PeptideAtlasi
Q6ISB3

PRoteomics IDEntifications database

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PRIDEi
Q6ISB3

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
66492 [Q6ISB3-1]
66493 [Q6ISB3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ISB3

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

More...
PhosphoSitePlusi
Q6ISB3

<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 keratinocytes (at protein level). Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, lung, salivary gland, mammary gland and digestive tract. Expressed in the cochlear. Expressed in corneal epithelial cells, but not in the endothelium or stroma (PubMed:29499165).5 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expressed in proliferating cells, the expression decreases during senescence. In keratinocytes, expression levels decrease upon calcium exposure.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000083307 Expressed in 134 organ(s), highest expression level in oviduct epithelium

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6ISB3 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA004820
HPA062839

<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">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, also forms heterodimers with GRHL1 or GRHL3.

2 Publications

<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

WithEntry#Exp.IntActNotes
P619685EBI-10219092,EBI-2798728

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123042, 7 interactors

Protein interaction database and analysis system

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IntActi
Q6ISB3, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000251808

<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

Secondary structure

1625
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q6ISB3

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 93Transcription activationBy similarityAdd BLAST93

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the grh/CP2 family. Grainyhead subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4091 Eukaryota
ENOG410XNZ6 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155788

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220859

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6ISB3

KEGG Orthology (KO)

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KOi
K09275

Identification of Orthologs from Complete Genome Data

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OMAi
ALVPMPN

Database of Orthologous Groups

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OrthoDBi
286319at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6ISB3

TreeFam database of animal gene trees

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TreeFami
TF314132

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007604 CP2
IPR040167 TF_CP2-like

The PANTHER Classification System

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PANTHERi
PTHR11037 PTHR11037, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04516 CP2, 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 (2)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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6ISB3-1) [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
MSQESDNNKR LVALVPMPSD PPFNTRRAYT SEDEAWKSYL ENPLTAATKA
60 70 80 90 100
MMSINGDEDS AAALGLLYDY YKVPRDKRLL SVSKASDSQE DQEKRNCLGT
110 120 130 140 150
SEAQSNLSGG ENRVQVLKTV PVNLSLNQDH LENSKREQYS ISFPESSAII
160 170 180 190 200
PVSGITVVKA EDFTPVFMAP PVHYPRGDGE EQRVVIFEQT QYDVPSLATH
210 220 230 240 250
SAYLKDDQRS TPDSTYSESF KDAATEKFRS ASVGAEEYMY DQTSSGTFQY
260 270 280 290 300
TLEATKSLRQ KQGEGPMTYL NKGQFYAITL SETGDNKCFR HPISKVRSVV
310 320 330 340 350
MVVFSEDKNR DEQLKYWKYW HSRQHTAKQR VLDIADYKES FNTIGNIEEI
360 370 380 390 400
AYNAVSFTWD VNEEAKIFIT VNCLSTDFSS QKGVKGLPLM IQIDTYSYNN
410 420 430 440 450
RSNKPIHRAY CQIKVFCDKG AERKIRDEER KQNRKKGKGQ ASQTQCNSSS
460 470 480 490 500
DGKLAAIPLQ KKSDITYFKT MPDLHSQPVL FIPDVHFANL QRTGQVYYNT
510 520 530 540 550
DDEREGGSVL VKRMFRPMEE EFGPVPSKQM KEEGTKRVLL YVRKETDDVF
560 570 580 590 600
DALMLKSPTV KGLMEAISEK YGLPVEKIAK LYKKSKKGIL VNMDDNIIEH
610 620
YSNEDTFILN MESMVEGFKV TLMEI
Length:625
Mass (Da):71,105
Last modified:July 5, 2004 - 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:i147CF33798248BB6
GO
Isoform 2 (identifier: Q6ISB3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: Missing.

Show »
Length:609
Mass (Da):69,322
Checksum:iE43F12B929E3473D
GO

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 conflicti53S → I in BAB14699 (PubMed:14702039).Curated1
Sequence conflicti430R → Q in BAB14699 (PubMed:14702039).Curated1
Sequence conflicti436K → N in BAB14699 (PubMed:14702039).Curated1
Sequence conflicti561K → M in BAB14699 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071989398Y → H in ECTDS. 1 PublicationCorresponds to variant dbSNP:rs587777737EnsemblClinVar.1
Natural variantiVAR_049293415V → I. Corresponds to variant dbSNP:rs3779617EnsemblClinVar.1
Natural variantiVAR_071990482I → K in ECTDS; reduced expression; altered cell morphology; impaired tight junctions; adhesion defects; cytoplasmic translocation. 1 PublicationCorresponds to variant dbSNP:rs587777738EnsemblClinVar.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_0176421 – 16Missing in isoform 2. 1 PublicationAdd BLAST16

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
AK023844 mRNA Translation: BAB14699.1
CH471060 Genomic DNA Translation: EAW91834.1
BC069618 mRNA Translation: AAH69618.1
BC069633 mRNA Translation: AAH69633.1
BC069638 mRNA Translation: AAH69638.1
BC129822 mRNA Translation: AAI29823.1
BC129823 mRNA Translation: AAI29824.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34931.1 [Q6ISB3-1]
CCDS83312.1 [Q6ISB3-2]

NCBI Reference Sequences

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RefSeqi
NP_001317522.1, NM_001330593.1 [Q6ISB3-2]
NP_079191.2, NM_024915.3 [Q6ISB3-1]
XP_011515608.1, XM_011517306.2 [Q6ISB3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000395927; ENSP00000379260; ENSG00000083307 [Q6ISB3-2]
ENST00000646743; ENSP00000495564; ENSG00000083307 [Q6ISB3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79977

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79977

UCSC genome browser

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UCSCi
uc010mbu.4 human [Q6ISB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AK023844 mRNA Translation: BAB14699.1
CH471060 Genomic DNA Translation: EAW91834.1
BC069618 mRNA Translation: AAH69618.1
BC069633 mRNA Translation: AAH69633.1
BC069638 mRNA Translation: AAH69638.1
BC129822 mRNA Translation: AAI29823.1
BC129823 mRNA Translation: AAI29824.1
CCDSiCCDS34931.1 [Q6ISB3-1]
CCDS83312.1 [Q6ISB3-2]
RefSeqiNP_001317522.1, NM_001330593.1 [Q6ISB3-2]
NP_079191.2, NM_024915.3 [Q6ISB3-1]
XP_011515608.1, XM_011517306.2 [Q6ISB3-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5MR7X-ray2.50A/B217-492[»]
SMRiQ6ISB3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123042, 7 interactors
IntActiQ6ISB3, 9 interactors
STRINGi9606.ENSP00000251808

PTM databases

iPTMnetiQ6ISB3
PhosphoSitePlusiQ6ISB3

Polymorphism and mutation databases

BioMutaiGRHL2
DMDMi74736618

Proteomic databases

EPDiQ6ISB3
jPOSTiQ6ISB3
MassIVEiQ6ISB3
MaxQBiQ6ISB3
PaxDbiQ6ISB3
PeptideAtlasiQ6ISB3
PRIDEiQ6ISB3
ProteomicsDBi66492 [Q6ISB3-1]
66493 [Q6ISB3-2]

Genome annotation databases

EnsembliENST00000395927; ENSP00000379260; ENSG00000083307 [Q6ISB3-2]
ENST00000646743; ENSP00000495564; ENSG00000083307 [Q6ISB3-1]
GeneIDi79977
KEGGihsa:79977
UCSCiuc010mbu.4 human [Q6ISB3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79977
DisGeNETi79977

GeneCards: human genes, protein and diseases

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GeneCardsi
GRHL2
GeneReviewsiGRHL2
HGNCiHGNC:2799 GRHL2
HPAiHPA004820
HPA062839
MalaCardsiGRHL2
MIMi608576 gene
608641 phenotype
616029 phenotype
618031 phenotype
neXtProtiNX_Q6ISB3
OpenTargetsiENSG00000083307
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
98973 Posterior polymorphous corneal dystrophy
PharmGKBiPA27270

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4091 Eukaryota
ENOG410XNZ6 LUCA
GeneTreeiENSGT00940000155788
HOGENOMiHOG000220859
InParanoidiQ6ISB3
KOiK09275
OMAiALVPMPN
OrthoDBi286319at2759
PhylomeDBiQ6ISB3
TreeFamiTF314132

Enzyme and pathway databases

SIGNORiQ6ISB3

Miscellaneous databases

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

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ChiTaRSi
GRHL2 human

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

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GenomeRNAii
79977
PharosiQ6ISB3

Protein Ontology

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PROi
PR:Q6ISB3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000083307 Expressed in 134 organ(s), highest expression level in oviduct epithelium
GenevisibleiQ6ISB3 HS

Family and domain databases

InterProiView protein in InterPro
IPR007604 CP2
IPR040167 TF_CP2-like
PANTHERiPTHR11037 PTHR11037, 1 hit
PfamiView protein in Pfam
PF04516 CP2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiGRHL2_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: Q6ISB3
Secondary accession number(s): A1L303, Q6NT03, Q9H8B8
<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: March 21, 2006
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 136 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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