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Entry version 211 (12 Aug 2020)
Sequence version 3 (20 Apr 2010)
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Protein

Intersectin-2

Gene

ITSN2

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

Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003).3 Publications

Miscellaneous

Overexpression results in the inhibition of the transferrin uptake and the blockage of the clathrin-mediated endocytosis.

Caution

It is uncertain whether Met-1 or Met-2 is the initiator.Curated
Studies in clathrin-mediated endocytosis of ITGB1 and TFR used a siRNA mixture of ISTN1 and ISTN2 suggesting a partially overlapping role of the EH domain-containing proteins.1 Publication

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1640CalciumPROSITE-ProRule annotation1
Metal bindingi1643CalciumPROSITE-ProRule annotation1
Metal bindingi1646CalciumPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) 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 bindingi67 – 79PROSITE-ProRule annotationAdd BLAST13

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, Endocytosis, Host-virus interaction
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NZM3

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%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:
Intersectin-2
Alternative name(s):
SH3 domain-containing protein 1B
SH3P18
SH3P18-like WASP-associated protein
<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:ITSN2
Synonyms:KIAA1256, SH3D1B, SWAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198399.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6184, ITSN2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604464, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZM3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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
50618

Open Targets

More...
OpenTargetsi
ENSG00000198399

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29982

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZM3, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ITSN2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
294862505

<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_00000809611 – 1697Intersectin-2Add BLAST1697

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 residuei110PhosphoserineCombined sources1
Modified residuei210PhosphoserineCombined sources1
Modified residuei230PhosphoserineCombined sources1
Modified residuei553PhosphotyrosineBy similarity1
Modified residuei573PhosphothreonineCombined sources1
Modified residuei882PhosphothreonineBy similarity1
Modified residuei884PhosphoserineCombined sources1
Modified residuei889PhosphoserineCombined sources1
Modified residuei968PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZM3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZM3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NZM3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZM3

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

More...
PaxDbi
Q9NZM3

PeptideAtlas

More...
PeptideAtlasi
Q9NZM3

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZM3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83445 [Q9NZM3-1]
83446 [Q9NZM3-2]
83447 [Q9NZM3-3]
83448 [Q9NZM3-4]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q9NZM3

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9NZM3, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZM3

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9NZM3

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

More...
PhosphoSitePlusi
Q9NZM3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in melanocytes (PubMed:23999003). Ubiquitous. Isoform 1 is primarily expressed in adult heart and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198399, Expressed in visceral pleura and 247 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZM3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZM3, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000198399, 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

Belongs to a complex that may contain multimers of ITSN1, ITSN2 and EPS15, and different partners according to the step in the endocytic process.

Interacts with ADAM15.

Interacts with FASLG.

Interacts with ANKRD54 (By similarity).

Interacts with FCHO2.

By similarity3 Publications

(Microbial infection) Interacts with herpes virus 8 protein K15.

1 Publication

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119098, 103 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZM3, 45 interactors

Molecular INTeraction database

More...
MINTi
Q9NZM3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000347244

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NZM3, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11697
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q9NZM3

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9NZM3

<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>Domaini22 – 110EH 1PROSITE-ProRule annotationAdd BLAST89
Domaini54 – 89EF-handPROSITE-ProRule annotationAdd BLAST36
Domaini244 – 333EH 2PROSITE-ProRule annotationAdd BLAST90
Domaini757 – 818SH3 1PROSITE-ProRule annotationAdd BLAST62
Domaini898 – 956SH3 2PROSITE-ProRule annotationAdd BLAST59
Domaini981 – 1039SH3 3PROSITE-ProRule annotationAdd BLAST59
Domaini1053 – 1117SH3 4PROSITE-ProRule annotationAdd BLAST65
Domaini1127 – 1186SH3 5PROSITE-ProRule annotationAdd BLAST60
Domaini1209 – 1395DHPROSITE-ProRule annotationAdd BLAST187
Domaini1434 – 1544PHPROSITE-ProRule annotationAdd BLAST111
Domaini1552 – 1668C2PROSITE-ProRule annotationAdd BLAST117

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 coili361 – 756Sequence analysisAdd BLAST396

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1029, Eukaryota
KOG4305, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155936

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002819_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZM3

KEGG Orthology (KO)

More...
KOi
K20045

Identification of Orthologs from Complete Genome Data

More...
OMAi
QWCADLN

Database of Orthologous Groups

More...
OrthoDBi
807060at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZM3

TreeFam database of animal gene trees

More...
TreeFami
TF324293

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00052, EH, 2 hits
cd00160, RhoGEF, 1 hit
cd11988, SH3_Intersectin2_1, 1 hit
cd11990, SH3_Intersectin2_2, 1 hit
cd11992, SH3_Intersectin2_3, 1 hit
cd11994, SH3_Intersectin2_4, 1 hit
cd11996, SH3_Intersectin2_5, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR027029, Intersectin-2
IPR035737, Intersectin-2_SH3_1
IPR035738, Intersectin-2_SH3_2
IPR035739, Intersectin-2_SH3_3
IPR035740, Intersectin-2_SH3_4
IPR035741, Intersectin-2_SH3_5
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

The PANTHER Classification System

More...
PANTHERi
PTHR11216:SF29, PTHR11216:SF29, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168, C2, 1 hit
PF12763, EF-hand_4, 2 hits
PF16652, PH_13, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 2 hits
PF07653, SH3_2, 1 hit
PF14604, SH3_9, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00452, SH3DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239, C2, 1 hit
SM00054, EFh, 2 hits
SM00027, EH, 2 hits
SM00233, PH, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473, SSF47473, 2 hits
SSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004, C2, 1 hit
PS50010, DH_2, 1 hit
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 2 hits
PS50031, EH, 2 hits
PS50003, PH_DOMAIN, 1 hit
PS50002, SH3, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 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. 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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZM3-1) [UniParc]FASTAAdd to basket
Also known as: ITSN2-L

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
MMAQFPTAMN GGPNMWAITS EERTKHDRQF DNLKPSGGYI TGDQARNFFL
60 70 80 90 100
QSGLPAPVLA EIWALSDLNK DGKMDQQEFS IAMKLIKLKL QGQQLPVVLP
110 120 130 140 150
PIMKQPPMFS PLISARFGMG SMPNLSIPQP LPPAAPITSL SSATSGTNLP
160 170 180 190 200
PLMMPTPLVP SVSTSSLPNG TASLIQPLPI PYSSSTLPHG SSYSLMMGGF
210 220 230 240 250
GGASIQKAQS LIDLGSSSST SSTASLSGNS PKTGTSEWAV PQPTRLKYRQ
260 270 280 290 300
KFNTLDKSMS GYLSGFQARN ALLQSNLSQT QLATIWTLAD VDGDGQLKAE
310 320 330 340 350
EFILAMHLTD MAKAGQPLPL TLPPELVPPS FRGGKQIDSI NGTLPSYQKM
360 370 380 390 400
QEEEPQKKLP VTFEDKRKAN YERGNMELEK RRQALMEQQQ REAERKAQKE
410 420 430 440 450
KEEWERKQRE LQEQEWKKQL ELEKRLEKQR ELERQREEER RKDIERREAA
460 470 480 490 500
KQELERQRRL EWERIRRQEL LNQKNREQEE IVRLNSKKKN LHLELEALNG
510 520 530 540 550
KHQQISGRLQ DVRLKKQTQK TELEVLDKQC DLEIMEIKQL QQELQEYQNK
560 570 580 590 600
LIYLVPEKQL LNERIKNMQF SNTPDSGVSL LHKKSLEKEE LCQRLKEQLD
610 620 630 640 650
ALEKETASKL SEMDSFNNQL KCGNMDDSVL QCLLSLLSCL NNLFLLLKEL
660 670 680 690 700
RETYNTQQLA LEQLYKIKRD KLKEIERKRL ELMQKKKLED EAARKAKQGK
710 720 730 740 750
ENLWKENLRK EEEEKQKRLQ EEKTQEKIQE EERKAEEKQR KDKDTLKAEE
760 770 780 790 800
KKRETASVLV NYRALYPFEA RNHDEMSFNS GDIIQVDEKT VGEPGWLYGS
810 820 830 840 850
FQGNFGWFPC NYVEKMPSSE NEKAVSPKKA LLPPTVSLSA TSTSSEPLSS
860 870 880 890 900
NQPASVTDYQ NVSFSNLTVN TSWQKKSAFT RTVSPGSVSP IHGQGQVVEN
910 920 930 940 950
LKAQALCSWT AKKDNHLNFS KHDIITVLEQ QENWWFGEVH GGRGWFPKSY
960 970 980 990 1000
VKIIPGSEVK REEPEALYAA VNKKPTSAAY SVGEEYIALY PYSSVEPGDL
1010 1020 1030 1040 1050
TFTEGEEILV TQKDGEWWTG SIGDRSGIFP SNYVKPKDQE SFGSASKSGA
1060 1070 1080 1090 1100
SNKKPEIAQV TSAYVASGSE QLSLAPGQLI LILKKNTSGW WQGELQARGK
1110 1120 1130 1140 1150
KRQKGWFPAS HVKLLGPSSE RATPAFHPVC QVIAMYDYAA NNEDELSFSK
1160 1170 1180 1190 1200
GQLINVMNKD DPDWWQGEIN GVTGLFPSNY VKMTTDSDPS QQWCADLQTL
1210 1220 1230 1240 1250
DTMQPIERKR QGYIHELIQT EERYMADLQL VVEVFQKRMA ESGFLTEGEM
1260 1270 1280 1290 1300
ALIFVNWKEL IMSNTKLLKA LRVRKKTGGE KMPVQMIGDI LAAELSHMQA
1310 1320 1330 1340 1350
YIRFCSCQLN GAALLQQKTD EDTDFKEFLK KLASDPRCKG MPLSSFLLKP
1360 1370 1380 1390 1400
MQRITRYPLL IRSILENTPE SHADHSSLKL ALERAEELCS QVNEGVREKE
1410 1420 1430 1440 1450
NSDRLEWIQA HVQCEGLAEQ LIFNSLTNCL GPRKLLHSGK LYKTKSNKEL
1460 1470 1480 1490 1500
HGFLFNDFLL LTYMVKQFAV SSGSEKLFSS KSNAQFKMYK TPIFLNEVLV
1510 1520 1530 1540 1550
KLPTDPSSDE PVFHISHIDR VYTLRTDNIN ERTAWVQKIK AASEQYIDTE
1560 1570 1580 1590 1600
KKKREKAYQA RSQKTSGIGR LMVHVIEATE LKACKPNGKS NPYCEISMGS
1610 1620 1630 1640 1650
QSYTTRTIQD TLNPKWNFNC QFFIKDLYQD VLCLTLFDRD QFSPDDFLGR
1660 1670 1680 1690
TEIPVAKIRT EQESKGPMTR RLLLHEVPTG EVWVRFDLQL FEQKTLL
Length:1,697
Mass (Da):193,461
Last modified:April 20, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i49C41AE1E32E1BD0
GO
Isoform 2 (identifier: Q9NZM3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     622-648: Missing.

Show »
Length:1,670
Mass (Da):190,496
Checksum:i91E65C08E5AB26F1
GO
Isoform 3 (identifier: Q9NZM3-3) [UniParc]FASTAAdd to basket
Also known as: ITSN2-S1

The sequence of this isoform differs from the canonical sequence as follows:
     1235-1249: FQKRMAESGFLTEGE → RRLLLASSRGICCLS
     1250-1697: Missing.

Show »
Length:1,249
Mass (Da):141,820
Checksum:i271797AF71A0EB28
GO
Isoform 4 (identifier: Q9NZM3-4) [UniParc]FASTAAdd to basket
Also known as: ITSN2-S2, SH3P18

The sequence of this isoform differs from the canonical sequence as follows:
     1193-1697: Missing.

Show »
Length:1,192
Mass (Da):135,144
Checksum:i2DA2049587CF4082
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVF7A0A087WVF7_HUMAN
Intersectin-2
ITSN2
1,680Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EPJ2E7EPJ2_HUMAN
Intersectin-2
ITSN2
609Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W719F8W719_HUMAN
Intersectin-2
ITSN2
183Annotation 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>
H7BZD4H7BZD4_HUMAN
Intersectin-2
ITSN2
120Annotation 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>
H7C0L8H7C0L8_HUMAN
Intersectin-2
ITSN2
55Annotation 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>
H7C3E2H7C3E2_HUMAN
Intersectin-2
ITSN2
36Annotation 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 AAF59903 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAF59904 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAF63600 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA86570 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti679R → G in BAB13841 (PubMed:14702039).Curated1
Sequence conflicti823 – 828KAVSPK → FAAAST in AAD00899 (Ref. 6) Curated6
Sequence conflicti945 – 951WFPKSYV → EFAAAST in AAC50593 (PubMed:9630982).Curated7
Sequence conflicti1279 – 1285GEKMPVQ → VDAAANS in AAD00899 (Ref. 6) Curated7
Sequence conflicti1553K → Q in AAF63600 (Ref. 2) Curated1
Sequence conflicti1553K → Q in BAA86570 (PubMed:10574462).Curated1
Isoform 3 (identifier: Q9NZM3-3)
Sequence conflicti1235R → W in AAF59904 (PubMed:10922467).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_024287254T → A. Corresponds to variant dbSNP:rs6744320Ensembl.1
Natural variantiVAR_024288291V → I1 PublicationCorresponds to variant dbSNP:rs7603997Ensembl.1
Natural variantiVAR_0201931287I → T. Corresponds to variant dbSNP:rs3731625Ensembl.1
Natural variantiVAR_0219371534A → T. Corresponds to variant dbSNP:rs2303291Ensembl.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_003892622 – 648Missing in isoform 2. 3 PublicationsAdd BLAST27
Alternative sequenceiVSP_0038951193 – 1697Missing in isoform 4. 1 PublicationAdd BLAST505
Alternative sequenceiVSP_0038931235 – 1249FQKRM…LTEGE → RRLLLASSRGICCLS in isoform 3. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0038941250 – 1697Missing in isoform 3. 1 PublicationAdd BLAST448

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
AF182198 mRNA Translation: AAF59903.1 Different initiation.
AF182199 mRNA Translation: AAF59904.1 Different initiation.
AF248540 mRNA Translation: AAF63600.1 Different initiation.
AB033082 mRNA Translation: BAA86570.1 Different initiation.
AC008073 Genomic DNA No translation available.
AC009228 Genomic DNA No translation available.
AK021545 mRNA Translation: BAB13841.1
AK000302 mRNA Translation: BAA91068.1
AF001630 mRNA Translation: AAD00899.1
U61167 mRNA Translation: AAC50593.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1710.2 [Q9NZM3-1]
CCDS1711.2 [Q9NZM3-2]
CCDS46230.1 [Q9NZM3-3]

NCBI Reference Sequences

More...
RefSeqi
NP_006268.2, NM_006277.2 [Q9NZM3-1]
NP_062541.3, NM_019595.3 [Q9NZM3-2]
NP_671494.2, NM_147152.2 [Q9NZM3-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355123; ENSP00000347244; ENSG00000198399 [Q9NZM3-1]
ENST00000361999; ENSP00000354561; ENSG00000198399 [Q9NZM3-2]
ENST00000406921; ENSP00000384499; ENSG00000198399 [Q9NZM3-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
50618

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:50618

UCSC genome browser

More...
UCSCi
uc002rfe.3, human [Q9NZM3-1]

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
AF182198 mRNA Translation: AAF59903.1 Different initiation.
AF182199 mRNA Translation: AAF59904.1 Different initiation.
AF248540 mRNA Translation: AAF63600.1 Different initiation.
AB033082 mRNA Translation: BAA86570.1 Different initiation.
AC008073 Genomic DNA No translation available.
AC009228 Genomic DNA No translation available.
AK021545 mRNA Translation: BAB13841.1
AK000302 mRNA Translation: BAA91068.1
AF001630 mRNA Translation: AAD00899.1
U61167 mRNA Translation: AAC50593.1
CCDSiCCDS1710.2 [Q9NZM3-1]
CCDS1711.2 [Q9NZM3-2]
CCDS46230.1 [Q9NZM3-3]
RefSeqiNP_006268.2, NM_006277.2 [Q9NZM3-1]
NP_062541.3, NM_019595.3 [Q9NZM3-2]
NP_671494.2, NM_147152.2 [Q9NZM3-3]

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
1J3TNMR-A898-958[»]
1UDLNMR-A1103-1187[»]
1UE9NMR-A1056-1122[»]
1UFFNMR-A762-842[»]
1UHFNMR-A983-1038[»]
3GF9X-ray2.50A1130-1406[»]
3JZYX-ray1.56A1201-1692[»]
4IIOX-ray1.70A/B901-955[»]
SMRiQ9NZM3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119098, 103 interactors
IntActiQ9NZM3, 45 interactors
MINTiQ9NZM3
STRINGi9606.ENSP00000347244

PTM databases

CarbonylDBiQ9NZM3
GlyGeniQ9NZM3, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9NZM3
MetOSiteiQ9NZM3
PhosphoSitePlusiQ9NZM3

Polymorphism and mutation databases

BioMutaiITSN2
DMDMi294862505

Proteomic databases

EPDiQ9NZM3
jPOSTiQ9NZM3
MassIVEiQ9NZM3
MaxQBiQ9NZM3
PaxDbiQ9NZM3
PeptideAtlasiQ9NZM3
PRIDEiQ9NZM3
ProteomicsDBi83445 [Q9NZM3-1]
83446 [Q9NZM3-2]
83447 [Q9NZM3-3]
83448 [Q9NZM3-4]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
Q9NZM3, 9 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
27453, 73 antibodies

Genome annotation databases

EnsembliENST00000355123; ENSP00000347244; ENSG00000198399 [Q9NZM3-1]
ENST00000361999; ENSP00000354561; ENSG00000198399 [Q9NZM3-2]
ENST00000406921; ENSP00000384499; ENSG00000198399 [Q9NZM3-3]
GeneIDi50618
KEGGihsa:50618
UCSCiuc002rfe.3, human [Q9NZM3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
50618
DisGeNETi50618
EuPathDBiHostDB:ENSG00000198399.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ITSN2
HGNCiHGNC:6184, ITSN2
HPAiENSG00000198399, Low tissue specificity
MIMi604464, gene
neXtProtiNX_Q9NZM3
OpenTargetsiENSG00000198399
PharmGKBiPA29982

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1029, Eukaryota
KOG4305, Eukaryota
GeneTreeiENSGT00940000155936
HOGENOMiCLU_002819_2_0_1
InParanoidiQ9NZM3
KOiK20045
OMAiQWCADLN
OrthoDBi807060at2759
PhylomeDBiQ9NZM3
TreeFamiTF324293

Enzyme and pathway databases

PathwayCommonsiQ9NZM3
ReactomeiR-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
50618, 15 hits in 874 CRISPR screens

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

More...
ChiTaRSi
ITSN2, human
EvolutionaryTraceiQ9NZM3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ITSN2

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

More...
GenomeRNAii
50618
PharosiQ9NZM3, Tbio

Protein Ontology

More...
PROi
PR:Q9NZM3
RNActiQ9NZM3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198399, Expressed in visceral pleura and 247 other tissues
ExpressionAtlasiQ9NZM3, baseline and differential
GenevisibleiQ9NZM3, HS

Family and domain databases

CDDicd00052, EH, 2 hits
cd00160, RhoGEF, 1 hit
cd11988, SH3_Intersectin2_1, 1 hit
cd11990, SH3_Intersectin2_2, 1 hit
cd11992, SH3_Intersectin2_3, 1 hit
cd11994, SH3_Intersectin2_4, 1 hit
cd11996, SH3_Intersectin2_5, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
IPR000261, EH_dom
IPR027029, Intersectin-2
IPR035737, Intersectin-2_SH3_1
IPR035738, Intersectin-2_SH3_2
IPR035739, Intersectin-2_SH3_3
IPR035740, Intersectin-2_SH3_4
IPR035741, Intersectin-2_SH3_5
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PANTHERiPTHR11216:SF29, PTHR11216:SF29, 1 hit
PfamiView protein in Pfam
PF00168, C2, 1 hit
PF12763, EF-hand_4, 2 hits
PF16652, PH_13, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 2 hits
PF07653, SH3_2, 1 hit
PF14604, SH3_9, 2 hits
PRINTSiPR00452, SH3DOMAIN
SMARTiView protein in SMART
SM00239, C2, 1 hit
SM00054, EFh, 2 hits
SM00027, EH, 2 hits
SM00233, PH, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 5 hits
SUPFAMiSSF47473, SSF47473, 2 hits
SSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 5 hits
PROSITEiView protein in PROSITE
PS50004, C2, 1 hit
PS50010, DH_2, 1 hit
PS00018, EF_HAND_1, 1 hit
PS50222, EF_HAND_2, 2 hits
PS50031, EH, 2 hits
PS50003, PH_DOMAIN, 1 hit
PS50002, SH3, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiITSN2_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: Q9NZM3
Secondary accession number(s): O95062
, Q15812, Q9HAK4, Q9NXE6, Q9NYG0, Q9NZM2, Q9ULG4
<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: April 3, 2002
Last sequence update: April 20, 2010
Last modified: August 12, 2020
This is version 211 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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