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UniProtKB - Q8IVE3 (PKHH2_HUMAN)

Entry version 140 (12 Aug 2020)
Sequence version 2 (02 Oct 2007)
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Protein

Pleckstrin homology domain-containing family H member 2

Gene

PLEKHH2

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

In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IVE3

<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:
Pleckstrin homology domain-containing family H member 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:PLEKHH2
Synonyms:KIAA2028
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000152527.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:30506, PLEKHH2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612723, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IVE3

<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

<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>Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		130271

Open Targets

More...OpenTargetsi		ENSG00000152527

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134912826

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IVE3, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PLEKHH2

Domain mapping of disease mutations (DMDM)

More...DMDMi		158706383

<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_00003071211 – 1493Pleckstrin homology domain-containing family H member 2Add BLAST1493

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8IVE3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IVE3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IVE3

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

More...PaxDbi		Q8IVE3

PeptideAtlas

More...PeptideAtlasi		Q8IVE3

PRoteomics IDEntifications database

More...PRIDEi		Q8IVE3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70683 [Q8IVE3-1]
70684 [Q8IVE3-2]
70685 [Q8IVE3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IVE3

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

More...PhosphoSitePlusi		Q8IVE3

<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

Kidney. Reduced expression in patients with focal segmental glomerulosclerosis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000152527, Expressed in lung and 193 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IVE3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IVE3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000152527, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Self-associates.

Interacts with TGFB1I1 (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126228, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q8IVE3, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000282406

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IVE3, protein

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini703 – 797PH 1PROSITE-ProRule annotationAdd BLAST95
Domaini811 – 919PH 2PROSITE-ProRule annotationAdd BLAST109
Domaini955 – 1110MyTH4PROSITE-ProRule annotationAdd BLAST156
Domaini1121 – 1451FERMPROSITE-ProRule annotationAdd BLAST331

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 coili20 – 175Sequence analysisAdd BLAST156

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 biasi398 – 402Poly-Ser5
Compositional biasi613 – 666Ser-richAdd BLAST54
Compositional biasi693 – 696Poly-Ser4

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0248, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157675

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001626_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IVE3

KEGG Orthology (KO)

More...KOi		K24020

Identification of Orthologs from Complete Genome Data

More...OMAi		QTPCGSE

Database of Orthologous Groups

More...OrthoDBi		75793at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IVE3

TreeFam database of animal gene trees

More...TreeFami		TF312866

Family and domain databases

Conserved Domains Database

More...CDDi		cd14473, FERM_B-lobe, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.80.10, 1 hit
1.25.40.530, 1 hit
2.30.29.30, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR000857, MyTH4_dom
IPR038185, MyTH4_dom_sf
IPR011993, PH-like_dom_sf
IPR001849, PH_domain

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00373, FERM_M, 1 hit
PF00784, MyTH4, 1 hit
PF00169, PH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00295, B41, 1 hit
SM00139, MyTH4, 1 hit
SM00233, PH, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47031, SSF47031, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50057, FERM_3, 1 hit
PS51016, MYTH4, 1 hit
PS50003, PH_DOMAIN, 2 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 (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IVE3-1) [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
MAELSEPEGP VDWKERCVAL ESQLMKFRVQ ASKIRELLAE KMQQLERQVI 
        60         70         80         90        100
DAERQAEKAF QQVQVMEDKL KAANIQTSES ETRLYNKCQD LESLIQEKDD 
       110        120        130        140        150
VIQNLELQLE EQKQIRIQEA KIIEEKAAKI KEWVTVKLNE LELENQNLRL 
       160        170        180        190        200
INQNQTEEIR TMQSKLQEVQ GKKSSTVSTL KLSEGQRLSS LTFGCFLSRA 
       210        220        230        240        250
RSPPQVVKSE EMSKISSKEP EFTEGKDMEE MEIPEKSVDN QVLENNRGQR 
       260        270        280        290        300
TLHQTPCGSE QNRKTRTSFA TDGGISQNSG APVSDWSSDE EDGSKGRSKS 
       310        320        330        340        350
RCTSTLSSHT SEEGVQCSRM GSEMYLTASD DSSSIFEEET FGIKRPEHKK 
       360        370        380        390        400
LYSWQQEAQW KALNSPLGKG NSELSKKEQD SSSDELNKKF QSQRLDYSSS 
       410        420        430        440        450
SSEANTPSPI LTPALMPKHP NSLSGKGTQL VPSSHLPPPK LRIPNVFSIS 
       460        470        480        490        500
VALAKRHLSQ PQLSSDRMFG TNRNAISMIR PLRPQETDLD LVDGDSTEVL 
       510        520        530        540        550
ENMDTSCDDG LFSYDSLDSP NSDDQEHCDS AKKVAYSKPP TPPLHRFPSW 
       560        570        580        590        600
ESRIYAVAKS GIRMSEAFNM ESVNKNSAAT LSYTTSGLYT SLIYKNMTTP 
       610        620        630        640        650
VYTTLKGKAT QISSSPFLDD SSGSEEEDSS RSSSRTSESD SRSRSGPGSP 
       660        670        680        690        700
RAMKRGVSLS SVASESDYAI PPDAYSTDTE YSQPEQKLPK TCSSSSDNGK 
       710        720        730        740        750
NEPLEKSGYL LKMSGKVKSW KRRWFVLKGG ELLYYKSPSD VIRKPQGHIE 
       760        770        780        790        800
LSASCSILRG DNKQTVQLTT EKHTYYLTAD SPNILEEWIK VLQNVLRVQA 
       810        820        830        840        850
ANPLSLQPEG KPTMKGLLTK VKHGYSKRVW CTLIGKTLYY FRSQEDKFPL 
       860        870        880        890        900
GQIKLWEAKV EEVDRSCDSD EDYEASGRSL LSTHYTIVIH PKDQGPTYLL 
       910        920        930        940        950
IGSKHEKDTW LYHLTVAAGS NNVNVGSEFE QLVCKLLNID GEPSSQIWRH 
       960        970        980        990       1000
PTLCHSKEGI ISPLTTLPSE ALQTEAIKLF KTCQLFINAA VDSPAIDYHI 
      1010       1020       1030       1040       1050
SLAQSALQIC LTHPELQNEI CCQLIKQTRR RQPQNQPGPL QGWQLLALCV 
      1060       1070       1080       1090       1100
GLFLPHHPFL WLLRLHLKRN ADSRTEFGKY AIYCQRCVER TQQNGDREAR 
      1110       1120       1130       1140       1150
PSRMEILSTL LRNPYHHSLP FSIPVHFMNG IYQVVGFDAS TTVEEFLNTL 
      1160       1170       1180       1190       1200
NQDTGMRKPA QSGFALFTDD PSGRDLEHCL QGNIKICDII SKWEQASKEQ 
      1210       1220       1230       1240       1250
QPGKCEGTRT VRLTYKNRLY FSVQARGETD REKLLLMYQT NDQIINGLFP 
      1260       1270       1280       1290       1300
LNKDLALEMA ALLSQVEIGD FERPFSTPAG HVTNQCKVNQ TLKQVIEKFY 
      1310       1320       1330       1340       1350
PKRYRDGCSE EQLRQLCQRL STRWMALRGH SAADCVRIYL TVARKWPFFG 
      1360       1370       1380       1390       1400
AKLFLAKPIT PSSLGSTFLW LAVHEDGLSL LEYNSMRLIV SYVYKSLMTF 
      1410       1420       1430       1440       1450
GGYQDDFMVV INNTHSKDKP TEKLLFAMAK PKILEITLLI ASYINNFHQQ 
      1460       1470       1480       1490 
KAAFHHLSAP ALLSAQTRGP QARMMGSQPL LSSSRPTKGP TLL
Length:1,493
Mass (Da):168,229
Last modified:October 2, 2007 - v2
<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:i5B7765F5FDDE7ED0
GO
Isoform 2 (identifier: Q8IVE3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-563: Missing.

Show »
Length:930
Mass (Da):104,835
Checksum:i6A1F6C547A61564C
GO
Isoform 3 (identifier: Q8IVE3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     768-796: LTTEKHTYYLTADSPNILEEWIKVLQNVL → VLNFFFFFFFFVSCQTQFSIIQPNGKEIG
     797-1493: Missing.

Show »
Length:796
Mass (Da):89,122
Checksum:i7FCA97B175154B3D
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RGK1E5RGK1_HUMAN
Pleckstrin homology domain-containi...
PLEKHH2
89Annotation 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>
H0YBV1H0YBV1_HUMAN
Pleckstrin homology domain-containi...
PLEKHH2
88Annotation 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>

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 conflicti451V → A in CAI46132 (PubMed:17974005).Curated1
Sequence conflicti730G → C in CAI46132 (PubMed:17974005).Curated1
Sequence conflicti858A → V in CAI46132 (PubMed:17974005).Curated1

Natural variant

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_055542228M → V. Corresponds to variant dbSNP:rs10175843Ensembl.1
Natural variantiVAR_035344481P → T. Corresponds to variant dbSNP:rs17031297Ensembl.1
Natural variantiVAR_0353451069R → K. Corresponds to variant dbSNP:rs2278358Ensembl.1
Natural variantiVAR_0353461217N → S. Corresponds to variant dbSNP:rs17031368Ensembl.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_0285731 – 563Missing in isoform 2. 1 PublicationAdd BLAST563
Alternative sequenceiVSP_028574768 – 796LTTEK…LQNVL → VLNFFFFFFFFVSCQTQFSI IQPNGKEIG in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_028575797 – 1493Missing in isoform 3. 1 PublicationAdd BLAST697

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL832207 mRNA Translation: CAI46132.1
AL833400 mRNA Translation: CAD38637.1
BC063310 mRNA Translation: AAH63310.1
AB095948 mRNA Translation: BAC23124.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1812.1 [Q8IVE3-1]

NCBI Reference Sequences

More...RefSeqi		NP_742066.2, NM_172069.3 [Q8IVE3-1]
XP_016858842.1, XM_017003353.1 [Q8IVE3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282406; ENSP00000282406; ENSG00000152527 [Q8IVE3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		130271

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:130271

UCSC genome browser

More...UCSCi		uc010yny.3, human [Q8IVE3-1]

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
AL832207 mRNA Translation: CAI46132.1
AL833400 mRNA Translation: CAD38637.1
BC063310 mRNA Translation: AAH63310.1
AB095948 mRNA Translation: BAC23124.1
CCDSiCCDS1812.1 [Q8IVE3-1]
RefSeqiNP_742066.2, NM_172069.3 [Q8IVE3-1]
XP_016858842.1, XM_017003353.1 [Q8IVE3-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi126228, 4 interactors
IntActiQ8IVE3, 6 interactors
STRINGi9606.ENSP00000282406

PTM databases

iPTMnetiQ8IVE3
PhosphoSitePlusiQ8IVE3

Polymorphism and mutation databases

BioMutaiPLEKHH2
DMDMi158706383

Proteomic databases

EPDiQ8IVE3
jPOSTiQ8IVE3
MassIVEiQ8IVE3
PaxDbiQ8IVE3
PeptideAtlasiQ8IVE3
PRIDEiQ8IVE3
ProteomicsDBi70683 [Q8IVE3-1]
70684 [Q8IVE3-2]
70685 [Q8IVE3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29827, 82 antibodies

The DNASU plasmid repository

More...DNASUi		130271

Genome annotation databases

EnsembliENST00000282406; ENSP00000282406; ENSG00000152527 [Q8IVE3-1]
GeneIDi130271
KEGGihsa:130271
UCSCiuc010yny.3, human [Q8IVE3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		130271
DisGeNETi130271
EuPathDBiHostDB:ENSG00000152527.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		PLEKHH2
HGNCiHGNC:30506, PLEKHH2
HPAiENSG00000152527, Low tissue specificity
MIMi612723, gene
neXtProtiNX_Q8IVE3
OpenTargetsiENSG00000152527
PharmGKBiPA134912826

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0248, Eukaryota
GeneTreeiENSGT00940000157675
HOGENOMiCLU_001626_3_1_1
InParanoidiQ8IVE3
KOiK24020
OMAiQTPCGSE
OrthoDBi75793at2759
PhylomeDBiQ8IVE3
TreeFamiTF312866

Enzyme and pathway databases

PathwayCommonsiQ8IVE3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		130271, 3 hits in 867 CRISPR screens

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

More...ChiTaRSi		PLEKHH2, human

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

More...GenomeRNAii		130271
PharosiQ8IVE3, Tdark

Protein Ontology

More...PROi		PR:Q8IVE3
RNActiQ8IVE3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000152527, Expressed in lung and 193 other tissues
ExpressionAtlasiQ8IVE3, baseline and differential
GenevisibleiQ8IVE3, HS

Family and domain databases

CDDicd14473, FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
1.25.40.530, 1 hit
2.30.29.30, 3 hits
InterProiView protein in InterPro
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR000857, MyTH4_dom
IPR038185, MyTH4_dom_sf
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
PfamiView protein in Pfam
PF00373, FERM_M, 1 hit
PF00784, MyTH4, 1 hit
PF00169, PH, 1 hit
SMARTiView protein in SMART
SM00295, B41, 1 hit
SM00139, MyTH4, 1 hit
SM00233, PH, 2 hits
SUPFAMiSSF47031, SSF47031, 1 hit
PROSITEiView protein in PROSITE
PS50057, FERM_3, 1 hit
PS51016, MYTH4, 1 hit
PS50003, PH_DOMAIN, 2 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 nameiPKHH2_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: Q8IVE3
Secondary accession number(s): Q5JPJ6, Q6P4Q1, Q8N3Q3
<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: October 2, 2007
Last sequence update: October 2, 2007
Last modified: August 12, 2020
This is version 140 of the entry and version 2 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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