Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

RalBP1-associated Eps domain-containing protein 2

Gene

REPS2

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 growth factor signaling through its influence on the Ral signaling pathway.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi328 – 339PROSITE-ProRule annotationAdd BLAST12

<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

  • calcium ion binding Source: ProtInc

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

LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

<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:
RalBP1-associated Eps domain-containing protein 2
Alternative name(s):
Partner of RalBP1
RalBP1-interacting protein 2
<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:REPS2
Synonyms:POB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169891.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9963 REPS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300317 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFH8

<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

Keywords - Cellular componenti

Cytoplasm

<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
9185

Open Targets

More...
OpenTargetsi
ENSG00000169891

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34330

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
REPS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34098575

<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_00000738311 – 660RalBP1-associated Eps domain-containing protein 2Add BLAST660

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 residuei254PhosphoserineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei493PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

EGF stimulates phosphorylation on Tyr-residues and induces complex formation with EGF receptor through an adapter protein such as GRB2.

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NFH8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NFH8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NFH8

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

More...
PaxDbi
Q8NFH8

PeptideAtlas

More...
PeptideAtlasi
Q8NFH8

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFH8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73308
73309 [Q8NFH8-2]
73310 [Q8NFH8-3]
73311 [Q8NFH8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFH8

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

More...
PhosphoSitePlusi
Q8NFH8

<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 at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly expressed in the kidney. Relatively highly expressed in androgen-dependent as compared to androgen-independent prostate cancer cell lines and xenografts. Isoform 2 is down-regulated during progression of prostate cancer.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169891 Expressed in 175 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

More...
CleanExi
HS_REPS2

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFH8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000565
HPA026073

<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 ASAP1 and this complex can bind paxillin. May form a ternary complex with RALBP1 and ASAP1 (By similarity). Interacts with RALBP1 and GRB2. Binding to RALBP1 does not affect the Ral-binding activity of the latter. It can form a ternary complex with activated Ral and RALBP1. Binds EPN1.By similarity1 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114622, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NFH8, 18 interactors

Molecular INTeraction database

More...
MINTi
Q8NFH8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349824

<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

1660
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IQ3NMR-A265-367[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8NFH8

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

More...
SMRi
Q8NFH8

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8NFH8

<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>Domaini34 – 147EH 1PROSITE-ProRule annotationAdd BLAST114
Domaini282 – 373EH 2PROSITE-ProRule annotationAdd BLAST92
Domaini315 – 350EF-handPROSITE-ProRule annotationAdd BLAST36

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>Regioni514 – 660Interaction with RALBP1Add BLAST147
Regioni561 – 660Interaction with ASAP1By similarityAdd BLAST100

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 coili601 – 657Sequence analysisAdd BLAST57

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 biasi3 – 76Ala-richAdd BLAST74
Compositional biasi477 – 524Pro-richAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1955 Eukaryota
ENOG410XTBP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158080

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231382

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG056372

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NFH8

KEGG Orthology (KO)

More...
KOi
K20068

Identification of Orthologs from Complete Genome Data

More...
OMAi
EVCGAKR

Database of Orthologous Groups

More...
OrthoDBi
1319710at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NFH8

TreeFam database of animal gene trees

More...
TreeFami
TF316546

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00052 EH, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12763 EF-hand_4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00027 EH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50031 EH, 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_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 (4)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 4 <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: Q8NFH8-1) [UniParc]FASTAAdd to basket
Also known as: REPS2a, Long

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
MEAAAAAAAA AAAAAAAGGG CGSGPPPLLL SEGEQQCYSE LFARCAGAAG
60 70 80 90 100
GGPGSGPPEA ARVAPGTATA AAGPVADLFR ASQLPAETLH QITELCGAKR
110 120 130 140 150
VGYFGPTQFY IALKLIAAAQ SGLPVRIESI KCELPLPRFM MSKNDGEIRF
160 170 180 190 200
GNPAELHGTK VQIPYLTTEK NSFKRMDDED KQQETQSPTM SPLASPPSSP
210 220 230 240 250
PHYQRVPLSH GYSKLRSSAE QMHPAPYEAR QPLVQPEGSS SGGPGTKPLR
260 270 280 290 300
HQASLIRSFS VERELQDNSS YPDEPWRITE EQREYYVNQF RSLQPDPSSF
310 320 330 340 350
ISGSVAKNFF TKSKLSIPEL SYIWELSDAD CDGALTLPEF CAAFHLIVAR
360 370 380 390 400
KNGYPLPEGL PPTLQPEYLQ AAFPKPKWDC QLFDSYSESL PANQQPRDLN
410 420 430 440 450
RMEKTSVKDM ADLPVPNQDV TSDDKQALKS TINEALPKDV SEDPATPKDS
460 470 480 490 500
NSLKARPRSR SYSSTSIEEA MKRGEDPPTP PPRPQKTHSR ASSLDLNKVF
510 520 530 540 550
QPSVPATKSG LLPPPPALPP RPCPSQSEQV SEAELLPQLS RAPSQAAESS
560 570 580 590 600
PAKKDVLYSQ PPSKPIRRKF RPENQATENQ EPSTAASGPA SAATMKPHPT
610 620 630 640 650
VQKQSSKQKK AIQTAIRKNK EANAVLARLN SELQQQLKEV HQERIALENQ
660
LEQLRPVTVL
Length:660
Mass (Da):71,534
Last modified:August 15, 2003 - 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:iAACB3B8B8A9C2E3A
GO
Isoform 2 (identifier: Q8NFH8-2) [UniParc]FASTAAdd to basket
Also known as: REPS2b, Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Show »
Length:521
Mass (Da):57,902
Checksum:iF5FCF51B56961026
GO
Isoform 3 (identifier: Q8NFH8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.
     182-182: Missing.

Show »
Length:520
Mass (Da):57,774
Checksum:iC5B4F557D58A444D
GO
Isoform 4 (identifier: Q8NFH8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-182: Missing.

Show »
Length:659
Mass (Da):71,405
Checksum:i527A658BDFB4582B
GO

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_069419321S → C1 Publication1

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_0079581 – 139Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST139
Alternative sequenceiVSP_040086182Missing in isoform 3 and isoform 4. 1 Publication1

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
AF010233 mRNA Translation: AAC02901.1
AF511533 mRNA Translation: AAM43933.1
AF512951 mRNA Translation: AAM43953.1
AL732371 Genomic DNA No translation available.
AL929302 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14180.2 [Q8NFH8-1]
CCDS43919.1 [Q8NFH8-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001074444.1, NM_001080975.1 [Q8NFH8-4]
NP_004717.2, NM_004726.2 [Q8NFH8-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.186810

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303843; ENSP00000306033; ENSG00000169891 [Q8NFH8-4]
ENST00000357277; ENSP00000349824; ENSG00000169891 [Q8NFH8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9185

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9185

UCSC genome browser

More...
UCSCi
uc004cxv.1 human [Q8NFH8-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF010233 mRNA Translation: AAC02901.1
AF511533 mRNA Translation: AAM43933.1
AF512951 mRNA Translation: AAM43953.1
AL732371 Genomic DNA No translation available.
AL929302 Genomic DNA No translation available.
CCDSiCCDS14180.2 [Q8NFH8-1]
CCDS43919.1 [Q8NFH8-4]
RefSeqiNP_001074444.1, NM_001080975.1 [Q8NFH8-4]
NP_004717.2, NM_004726.2 [Q8NFH8-1]
UniGeneiHs.186810

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IQ3NMR-A265-367[»]
ProteinModelPortaliQ8NFH8
SMRiQ8NFH8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114622, 22 interactors
IntActiQ8NFH8, 18 interactors
MINTiQ8NFH8
STRINGi9606.ENSP00000349824

PTM databases

iPTMnetiQ8NFH8
PhosphoSitePlusiQ8NFH8

Polymorphism and mutation databases

BioMutaiREPS2
DMDMi34098575

Proteomic databases

EPDiQ8NFH8
jPOSTiQ8NFH8
MaxQBiQ8NFH8
PaxDbiQ8NFH8
PeptideAtlasiQ8NFH8
PRIDEiQ8NFH8
ProteomicsDBi73308
73309 [Q8NFH8-2]
73310 [Q8NFH8-3]
73311 [Q8NFH8-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303843; ENSP00000306033; ENSG00000169891 [Q8NFH8-4]
ENST00000357277; ENSP00000349824; ENSG00000169891 [Q8NFH8-1]
GeneIDi9185
KEGGihsa:9185
UCSCiuc004cxv.1 human [Q8NFH8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9185
DisGeNETi9185
EuPathDBiHostDB:ENSG00000169891.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
REPS2
HGNCiHGNC:9963 REPS2
HPAiHPA000565
HPA026073
MIMi300317 gene
neXtProtiNX_Q8NFH8
OpenTargetsiENSG00000169891
PharmGKBiPA34330

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1955 Eukaryota
ENOG410XTBP LUCA
GeneTreeiENSGT00940000158080
HOGENOMiHOG000231382
HOVERGENiHBG056372
InParanoidiQ8NFH8
KOiK20068
OMAiEVCGAKR
OrthoDBi1319710at2759
PhylomeDBiQ8NFH8
TreeFamiTF316546

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

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

More...
ChiTaRSi
REPS2 human
EvolutionaryTraceiQ8NFH8

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
REPS2

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

More...
GenomeRNAii
9185

Protein Ontology

More...
PROi
PR:Q8NFH8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169891 Expressed in 175 organ(s), highest expression level in corpus callosum
CleanExiHS_REPS2
GenevisibleiQ8NFH8 HS

Family and domain databases

CDDicd00052 EH, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
PfamiView protein in Pfam
PF12763 EF-hand_4, 1 hit
SMARTiView protein in SMART
SM00027 EH, 1 hit
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50031 EH, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiREPS2_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: Q8NFH8
Secondary accession number(s): A6PWZ6
, O43428, Q5JNZ8, Q8NFI5
<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: August 15, 2003
Last sequence update: August 15, 2003
Last modified: January 16, 2019
This is version 153 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again