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Protein

Ankyrin repeat and LEM domain-containing protein 2

Gene

ANKLE2

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

Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927).2 Publications

<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

  • protein phosphatase 2A binding Source: UniProtKB
  • protein phosphatase regulator activity Source: UniProtKB

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

Biological processCell cycle, Cell division, Mitosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2995383 Initiation of Nuclear Envelope Reformation

SIGNOR Signaling Network Open Resource

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SIGNORi
Q86XL3

<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:
Ankyrin repeat and LEM domain-containing protein 2
Alternative name(s):
LEM domain-containing protein 4
<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:ANKLE2
Synonyms:KIAA0692, LEM4
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000176915.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29101 ANKLE2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616062 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86XL3

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 12LumenalSequence analysisAdd BLAST12
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei13 – 32Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST20
Topological domaini33 – 938CytoplasmicSequence analysisAdd BLAST906

Keywords - Cellular componenti

Endoplasmic reticulum, 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

<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

Microcephaly 16, primary, autosomal recessive (MCPH16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
See also OMIM:616681
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_076205573L → V in MCPH16. 1 PublicationCorresponds to variant dbSNP:rs863225465EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary microcephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
23141

MalaCards human disease database

More...
MalaCardsi
ANKLE2
MIMi616681 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000176915

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

More...
Orphaneti
2512 Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162376532

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANKLE2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849748

<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_00002802421 – 938Ankyrin repeat and LEM domain-containing protein 2Add BLAST938

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei259PhosphoserineCombined sources1
Modified residuei268PhosphoserineCombined sources1
Modified residuei488PhosphoserineCombined sources1
Modified residuei496PhosphoserineCombined sources1
Modified residuei512PhosphoserineCombined sources1
Modified residuei528PhosphoserineCombined sources1
Modified residuei662PhosphoserineCombined sources1
Modified residuei804PhosphoserineCombined sources1
Modified residuei896PhosphoserineCombined sources1
Modified residuei914PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86XL3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86XL3

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

More...
PaxDbi
Q86XL3

PeptideAtlas

More...
PeptideAtlasi
Q86XL3

PRoteomics IDEntifications database

More...
PRIDEi
Q86XL3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
70296
70297 [Q86XL3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86XL3

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

More...
PhosphoSitePlusi
Q86XL3

<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
ENSG00000176915 Expressed in 224 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_ANKLE2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86XL3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86XL3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003602
HPA074838

<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

Interacts with BAF/BANF1. Interacts with protein phosphatase 2A (PP2A) components PPP2C (PPP2CA or PPP2CB) and PPP2R1A.1 Publication

<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
vrk-1Q198482EBI-1773621,EBI-2414048From Caenorhabditis elegans.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116758, 47 interactors

Protein interaction database and analysis system

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IntActi
Q86XL3, 25 interactors

Molecular INTeraction database

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MINTi
Q86XL3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350686

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q86XL3

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

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SMRi
Q86XL3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini69 – 113LEMPROSITE-ProRule annotationAdd BLAST45
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati411 – 440ANKAdd BLAST30

<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 ANKLE2 family.Curated

Keywords - Domaini

ANK repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IE4A Eukaryota
ENOG410XRMS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016767

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234326

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG096073

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86XL3

KEGG Orthology (KO)

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KOi
K21412

Identification of Orthologs from Complete Genome Data

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OMAi
KAGFFHN

Database of Orthologous Groups

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OrthoDBi
EOG091G05GX

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86XL3

TreeFam database of animal gene trees

More...
TreeFami
TF317729

Family and domain databases

Conserved Domains Database

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CDDi
cd00204 ANK, 1 hit
cd12944 LEM_ANKL2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.720.40, 1 hit
1.25.40.20, 1 hit
3.40.970.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035007 ANKLE2
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011015 LEM/LEM-like_dom_sf
IPR035006 LEM_ANKL2
IPR003887 LEM_dom
IPR011320 RNase_H1_N
IPR037056 RNase_H1_N_sf

The PANTHER Classification System

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PANTHERi
PTHR12349:SF4 PTHR12349:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01693 Cauli_VI, 1 hit
PF03020 LEM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 1 hit
SSF63451 SSF63451, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50954 LEM, 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>.<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_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 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.<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: Q86XL3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP
60 70 80 90 100
PPSAAAAPAS GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF
110 120 130 140 150
IFEKKLAQAL LEQGGRLSSF YHHEAGVTAL SQDPQRILKP AEGNPTDQAG
160 170 180 190 200
FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP SDTDTYRAGA TASKEPPLYY
210 220 230 240 250
GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF STREDAEKFA
260 270 280 290 300
RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS
310 320 330 340 350
YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC
360 370 380 390 400
RYNVMHVAAK ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV
410 420 430 440 450
DLYLNTPDKM GYDTPLHFAC KFGNADVVNV LSSHHLIVKN SRNKYDKTPE
460 470 480 490 500
DVICERSKNK SVELKERIRE YLKGHYYVPL LRAEETSSPV IGELWSPDQT
510 520 530 540 550
AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK TPPREKAGFL
560 570 580 590 600
HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE
610 620 630 640 650
EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE
660 670 680 690 700
IKNRQNAARN NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG
710 720 730 740 750
LCHPLNHSRT LAGKRPKAPR GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK
760 770 780 790 800
TPDESTKTKD QILTSRINAV ERDLLEPSPA DQLGNGHRRT ESEMSARIAK
810 820 830 840 850
MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA ALECADVDPH
860 870 880 890 900
QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN
910 920 930
SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL
Length:938
Mass (Da):104,114
Last modified:November 24, 2009 - v4
<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:iED2F25F05E8106F2
GO
Isoform 2 (identifier: Q86XL3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     631-648: GSNSISVRAFLDEDDMSL → VEMRFHRIDQAGLELLTS
     649-938: Missing.

Note: No experimental confirmation available.
Show »
Length:648
Mass (Da):72,641
Checksum:iA98712EBEE04E982
GO
Isoform 3 (identifier: Q86XL3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-645: Missing.

Show »
Length:293
Mass (Da):31,982
Checksum:i018D51B5FEA0E877
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
F5H6J0F5H6J0_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE2
118Annotation 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>
F5H1D4F5H1D4_HUMAN
Ankyrin repeat and LEM domain-conta...
ANKLE2
258Annotation 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 BAG51259 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti266P → Q in AAH43157 (PubMed:15489334).Curated1
Sequence conflicti481L → V in AAH43157 (PubMed:15489334).Curated1
Sequence conflicti647S → N in AAH43157 (PubMed:15489334).Curated1
Sequence conflicti662S → I in BAG52720 (PubMed:14702039).Curated1
Sequence conflicti680E → K in BAG52720 (PubMed:14702039).Curated1
Sequence conflicti863L → P in BAG51259 (PubMed:14702039).Curated1
Sequence conflicti891G → A in BAG52720 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031097122H → Y1 PublicationCorresponds to variant dbSNP:rs1132375Ensembl.1
Natural variantiVAR_031098148Q → E. Corresponds to variant dbSNP:rs7968520Ensembl.1
Natural variantiVAR_076205573L → V in MCPH16. 1 PublicationCorresponds to variant dbSNP:rs863225465EnsemblClinVar.1
Natural variantiVAR_031099720R → H2 PublicationsCorresponds to variant dbSNP:rs10781634Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0441731 – 645Missing in isoform 3. 1 PublicationAdd BLAST645
Alternative sequenceiVSP_023574631 – 648GSNSI…DDMSL → VEMRFHRIDQAGLELLTS in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_023575649 – 938Missing in isoform 2. 1 PublicationAdd BLAST290

Sequence databases

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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
AK024061 mRNA Translation: BAG51259.1 Different initiation.
AK093451 mRNA Translation: BAG52720.1
AK293028 mRNA Translation: BAF85717.1
AC135586 Genomic DNA No translation available.
AC136467 Genomic DNA No translation available.
BC001530 mRNA Translation: AAH01530.2
BC025347 mRNA Translation: AAH25347.1
BC043157 mRNA Translation: AAH43157.2
BC062373 mRNA Translation: AAH62373.1
BC082962 mRNA Translation: AAH82962.1
AB014592 mRNA Translation: BAA31667.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41869.1 [Q86XL3-1]

Protein sequence database of the Protein Information Resource

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PIRi
T00354

NCBI Reference Sequences

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RefSeqi
NP_055929.1, NM_015114.2 [Q86XL3-1]
XP_011533089.1, XM_011534787.2 [Q86XL3-2]
XP_011533090.1, XM_011534788.1 [Q86XL3-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.654628

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000357997; ENSP00000350686; ENSG00000176915 [Q86XL3-1]
ENST00000542282; ENSP00000437807; ENSG00000176915 [Q86XL3-3]
ENST00000542657; ENSP00000438551; ENSG00000176915 [Q86XL3-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23141

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23141

UCSC genome browser

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UCSCi
uc001ukx.3 human [Q86XL3-1]

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
AK024061 mRNA Translation: BAG51259.1 Different initiation.
AK093451 mRNA Translation: BAG52720.1
AK293028 mRNA Translation: BAF85717.1
AC135586 Genomic DNA No translation available.
AC136467 Genomic DNA No translation available.
BC001530 mRNA Translation: AAH01530.2
BC025347 mRNA Translation: AAH25347.1
BC043157 mRNA Translation: AAH43157.2
BC062373 mRNA Translation: AAH62373.1
BC082962 mRNA Translation: AAH82962.1
AB014592 mRNA Translation: BAA31667.1
CCDSiCCDS41869.1 [Q86XL3-1]
PIRiT00354
RefSeqiNP_055929.1, NM_015114.2 [Q86XL3-1]
XP_011533089.1, XM_011534787.2 [Q86XL3-2]
XP_011533090.1, XM_011534788.1 [Q86XL3-2]
UniGeneiHs.654628

3D structure databases

ProteinModelPortaliQ86XL3
SMRiQ86XL3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116758, 47 interactors
IntActiQ86XL3, 25 interactors
MINTiQ86XL3
STRINGi9606.ENSP00000350686

PTM databases

iPTMnetiQ86XL3
PhosphoSitePlusiQ86XL3

Polymorphism and mutation databases

BioMutaiANKLE2
DMDMi269849748

Proteomic databases

EPDiQ86XL3
MaxQBiQ86XL3
PaxDbiQ86XL3
PeptideAtlasiQ86XL3
PRIDEiQ86XL3
ProteomicsDBi70296
70297 [Q86XL3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357997; ENSP00000350686; ENSG00000176915 [Q86XL3-1]
ENST00000542282; ENSP00000437807; ENSG00000176915 [Q86XL3-3]
ENST00000542657; ENSP00000438551; ENSG00000176915 [Q86XL3-3]
GeneIDi23141
KEGGihsa:23141
UCSCiuc001ukx.3 human [Q86XL3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23141
DisGeNETi23141
EuPathDBiHostDB:ENSG00000176915.14

GeneCards: human genes, protein and diseases

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GeneCardsi
ANKLE2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0020726
HGNCiHGNC:29101 ANKLE2
HPAiHPA003602
HPA074838
MalaCardsiANKLE2
MIMi616062 gene
616681 phenotype
neXtProtiNX_Q86XL3
OpenTargetsiENSG00000176915
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA162376532

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE4A Eukaryota
ENOG410XRMS LUCA
GeneTreeiENSGT00390000016767
HOGENOMiHOG000234326
HOVERGENiHBG096073
InParanoidiQ86XL3
KOiK21412
OMAiKAGFFHN
OrthoDBiEOG091G05GX
PhylomeDBiQ86XL3
TreeFamiTF317729

Enzyme and pathway databases

ReactomeiR-HSA-2995383 Initiation of Nuclear Envelope Reformation
SIGNORiQ86XL3

Miscellaneous databases

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

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ChiTaRSi
ANKLE2 human

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

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GenomeRNAii
23141

Protein Ontology

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PROi
PR:Q86XL3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000176915 Expressed in 224 organ(s), highest expression level in testis
CleanExiHS_ANKLE2
ExpressionAtlasiQ86XL3 baseline and differential
GenevisibleiQ86XL3 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
cd12944 LEM_ANKL2, 1 hit
Gene3Di1.10.720.40, 1 hit
1.25.40.20, 1 hit
3.40.970.10, 1 hit
InterProiView protein in InterPro
IPR035007 ANKLE2
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011015 LEM/LEM-like_dom_sf
IPR035006 LEM_ANKL2
IPR003887 LEM_dom
IPR011320 RNase_H1_N
IPR037056 RNase_H1_N_sf
PANTHERiPTHR12349:SF4 PTHR12349:SF4, 1 hit
PfamiView protein in Pfam
PF01693 Cauli_VI, 1 hit
PF03020 LEM, 1 hit
SUPFAMiSSF48403 SSF48403, 1 hit
SSF63451 SSF63451, 1 hit
PROSITEiView protein in PROSITE
PS50954 LEM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiANKL2_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: Q86XL3
Secondary accession number(s): A8KAG3
, B3KN97, B3KSF8, O75176, Q6P6A5, Q8TAZ9, Q96DH4
<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 20, 2007
Last sequence update: November 24, 2009
Last modified: December 5, 2018
This is version 141 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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