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UniProtKB - Q8IWC8 (Q8IWC8_HUMAN)

Entry version 103 (07 Apr 2021)
Sequence version 1 (01 Mar 2003)
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Protein
Submitted name:

DiGeorge syndrome critical region gene 2

Gene

DGCR2

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation 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>-Experimental evidence at transcript 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

Caution

Lacks conserved residue(s) required for the propagation of feature annotation.PROSITE-ProRule annotation

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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 adhesionARBA annotation

<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
Submitted name:
DiGeorge syndrome critical region gene 2Imported
<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:DGCR2Imported
<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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

<p>This 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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei348 – 368HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27307

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<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_500430866622 – 550Sequence analysisAdd BLAST529

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi51 ↔ 66PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bondPROSITE-ProRule annotationARBA annotation

Proteomic databases

PeptideAtlas

More...PeptideAtlasi		Q8IWC8

<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

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IWC8, HS

<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

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

More...SMRi		Q8IWC8

Database of comparative protein structure models

More...ModBasei		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%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>Domaini124 – 266C-type lectinInterPro annotationAdd BLAST143

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>Regioni69 – 92DisorderedSequence analysisAdd BLAST24
Regioni500 – 550DisorderedSequence analysisAdd BLAST51

Keywords - Domaini

SignalSequence analysis, Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

Identification of Orthologs from Complete Genome Data

More...OMAi		CEGPQGC

Database of Orthologous Groups

More...OrthoDBi		491327at2759

Family and domain databases

Conserved Domains Database

More...CDDi		cd03599, CLECT_DGCR2_like, 1 hit
cd00112, LDLa, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.100.10, 1 hit
4.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001304, C-type_lectin-like
IPR016186, C-type_lectin-like/link_sf
IPR016187, CTDL_fold
IPR034010, DGCR2-like_CTLD
IPR042378, IDD
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR002172, LDrepeatLR_classA_rpt
IPR001007, VWF_dom

The PANTHER Classification System

More...PANTHERi		PTHR15256, PTHR15256, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00057, Ldl_recept_a, 1 hit
PF00059, Lectin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00034, CLECT, 1 hit
SM00192, LDLa, 1 hit
SM00214, VWC, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56436, SSF56436, 1 hit
SSF57424, SSF57424, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50041, C_TYPE_LECTIN_2, 1 hit
PS01209, LDLRA_1, 1 hit
PS50068, LDLRA_2, 1 hit
PS01208, VWFC_1, 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%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>Sequencei

<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.

Q8IWC8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVPKADSGAF LLLFLLVLTV TEPLRPELRC NPGQFACRSG TIQCIPLPWQ 
        60         70         80         90        100
CDGWATCEDE SDEANCPEVT GEVRPHHGKE AVDPRQGRAR GGDPSHFHAV 
       110        120        130        140        150
NVAQPVRFSS FLGKCPTGWH HYEGTASCYR VYLSGENYWD AAQTCQRLNG 
       160        170        180        190        200
SLATFSTDQE LRFVLAQEWD QPERSFGWKD QRKLWVGYQY VITGRNRSLE 
       210        220        230        240        250
GRWEVAFKGS SEVFLPPDPI FASAMSENDN VFCAQLQCFH FPTLRHHDLH 
       260        270        280        290        300
SWHAESCYEK SSFLCKRSQT CVDIKDNVVD EGFYFTPKGD DPCLSCTCHG 
       310        320        330        340        350
GEPEMCVAAL CERPQGCQQY RKDPKECCKF MCLDPDGNSL FDSMASGMRL 
       360        370        380        390        400
VVSCISSFLI LSLLLFMVHR LRQRRRERIE SLIGANLHHF NLGRRIPGFD 
       410        420        430        440        450
YGPDGFGTGL TPLHLSDDGE GGTFHFHDPP PPYTAYKYPD IGQPDDPPPP 
       460        470        480        490        500
YEASIHPDSV FYDPADDDAF EPVEVSLPAP GDGGSEGALL RRLEQPLPTA 
       510        520        530        540        550
GASLADLEDS ADSSSAMLVP PDPAQSGSTP AAEALPGGGR HSRSSLNTVV
Length:550
Mass (Da):60,829
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7703AFE8436A8AAC
GO

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
BC040500 mRNA Translation: AAH40500.1

NCBI Reference Sequences

More...RefSeqi		NP_001167004.1, NM_001173533.1
NP_001167005.1, NM_001173534.1
NP_005128.1, NM_005137.2

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9993

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9993

<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
BC040500 mRNA Translation: AAH40500.1
RefSeqiNP_001167004.1, NM_001173533.1
NP_001167005.1, NM_001173534.1
NP_005128.1, NM_005137.2

3D structure databases

SMRiQ8IWC8
ModBaseiSearch...

Proteomic databases

PeptideAtlasiQ8IWC8

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		9993

Genome annotation databases

GeneIDi9993
KEGGihsa:9993

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9993
PharmGKBiPA27307

Phylogenomic databases

OMAiCEGPQGC
OrthoDBi491327at2759

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9993, 7 hits in 991 CRISPR screens

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

More...ChiTaRSi		DGCR2, human

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

More...GenomeRNAii		9993

Gene expression databases

GenevisibleiQ8IWC8, HS

Family and domain databases

CDDicd03599, CLECT_DGCR2_like, 1 hit
cd00112, LDLa, 1 hit
Gene3Di3.10.100.10, 1 hit
4.10.400.10, 1 hit
InterProiView protein in InterPro
IPR001304, C-type_lectin-like
IPR016186, C-type_lectin-like/link_sf
IPR016187, CTDL_fold
IPR034010, DGCR2-like_CTLD
IPR042378, IDD
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR002172, LDrepeatLR_classA_rpt
IPR001007, VWF_dom
PANTHERiPTHR15256, PTHR15256, 1 hit
PfamiView protein in Pfam
PF00057, Ldl_recept_a, 1 hit
PF00059, Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034, CLECT, 1 hit
SM00192, LDLa, 1 hit
SM00214, VWC, 1 hit
SUPFAMiSSF56436, SSF56436, 1 hit
SSF57424, SSF57424, 1 hit
PROSITEiView protein in PROSITE
PS50041, C_TYPE_LECTIN_2, 1 hit
PS01209, LDLRA_1, 1 hit
PS50068, LDLRA_2, 1 hit
PS01208, VWFC_1, 1 hit

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 nameiQ8IWC8_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: Q8IWC8
<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/TrEMBL: March 1, 2003
Last sequence update: March 1, 2003
Last modified: April 7, 2021
This is version 103 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.
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