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Entry version 113 (12 Aug 2020)
Sequence version 4 (26 Feb 2020)
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Protein

Protein CC2D2B

Gene

CC2D2B

Organism
Homo sapiens (Human)
Status
Reviewed-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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6DHV5

<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:
Protein CC2D2BCurated
<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:CC2D2BImported
Synonyms:C10orf130Imported, C10orf131Imported
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000173088.12
HostDB:ENSG00000188649.11

Human Gene Nomenclature Database

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HGNCi
HGNC:31666, CC2D2B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6DHV5

<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

Open Targets

More...
OpenTargetsi
ENSG00000188649

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162381273

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6DHV5, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CC2D2B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
109821270

<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_00002440891 – 1437Protein CC2D2BAdd BLAST1437

Proteomic databases

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

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PaxDbi
Q6DHV5

PeptideAtlas

More...
PeptideAtlasi
Q6DHV5

PRoteomics IDEntifications database

More...
PRIDEi
Q6DHV5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19420
4102
66224 [Q6DHV5-1]
825

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6DHV5

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

More...
PhosphoSitePlusi
Q6DHV5

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000188649, Expressed in testis and 105 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6DHV5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6DHV5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000188649, Tissue enhanced (testis)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
136037, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q6DHV5, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386988

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6DHV5, 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

3D structure databases

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

More...
SMRi
Q6DHV5

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3639, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156590

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_020606_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6DHV5

Identification of Orthologs from Complete Genome Data

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OMAi
LQFSHHH

Database of Orthologous Groups

More...
OrthoDBi
246535at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6DHV5

TreeFam database of animal gene trees

More...
TreeFami
TF333815

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
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
IPR028928, CC2D2AN-C2
IPR041510, DUF5523

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15625, CC2D2AN-C2, 1 hit
PF17661, DUF5523, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239, C2, 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>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

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

Isoform 1 (identifier: Q6DHV5-5) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKKSQREDIF KKMSEEMDNI TAEEIIDKHL QKDLDAEENQ NVAKTLRGKV
60 70 80 90 100
REKLKISKIN KGEKSSTEQL IDSEIHQRSK LSPQTEVSLD ESLSFFILSG
110 120 130 140 150
EEGSALGKSS EQRPVNRSYP KCFSLGVNLQ NVAESEEEEF MKEFILTDIL
160 170 180 190 200
KVKAADYEDD QEQIKKQKAN IFVPSSSPVV NQRKLPKDMM PRILEDEGFY
210 220 230 240 250
IQRKPEIYKK TCNKMENRLL KLEEGKCWFG ESGEIMSLPT PIKQSWNFRL
260 270 280 290 300
NVRKEPLNPL LKTIYRKAVK YDLGSSFMNK MEGSREIYQL DLNIVGLQFS
310 320 330 340 350
HHHLFNQEQV LCARLLQLYE CFQDRQQQNV SQLLYEKLKA LTDATKLSNE
360 370 380 390 400
NSEINQLTRK SLQDYYWQIS NTKQMYDLER GKDLSLLHSI LRTWKQIKSL
410 420 430 440 450
RHGQGFTSTP IKLQVQRIKM NKCDEQEQIS EMSETEKKNE GKELKNGKKL
460 470 480 490 500
ESLSYLASDE TEIERIKPIT LRPQLSFTAE LTSLSKCSLH EQKRRAKIQK
510 520 530 540 550
LKYFIKIFYN NKQVSCTSVS PLQFDFKVMF QQIFNIQLMY WPEVICLEVY
560 570 580 590 600
EKSKRTSLLA KLYIPLPNYT ELKGKTALQY VEFSSDKLVM PADGEVGSNV
610 620 630 640 650
PFLLEGNGTE ELCLLTSGKL SYSLSWSLDE NGLPLIPMPQ SLRSSYCSML
660 670 680 690 700
RNVDARSVPG IPWLMNEQKL FEWANEVRID PNNPEYSDLM ESVTYMRLKG
710 720 730 740 750
QDIPKYFRLE QLQDEFNFVS EEEMAKSKRF QLLQLRNAGQ LDNFLLQQMP
760 770 780 790 800
LHDTEIPDLV FQEYESQKEK EVSVSDVNSI TAQRINSANF LKKVRRLIMK
810 820 830 840 850
RIVKISKCNL SDIVNDYEEI VSTSQLTDAV CKFVEPRRKL KPQRKERKKV
860 870 880 890 900
TAQAISDGDI KILVRIVRAY NIPTRKTTIN GSLDMPTCLK SSISCLRHRE
910 920 930 940 950
TIKSVASDET LHEDTVHPFV EVSFQHTVYK TNTASGSHPC WNEEIKVDFV
960 970 980 990 1000
SPGHDYSFSS LSKIKDNIYI NIFDEMMTEK HEDHCLKSCS GHSYIRKNWL
1010 1020 1030 1040 1050
GCIVFPFSAL LQQSEISGTF QVTIPPVLLG YTWSNTYVFP KEDSNEQNLK
1060 1070 1080 1090 1100
ECTFLNIFAT IEPQISYVTC NPTLDKFLDQ TEVLQRAQIF KKNCKAMFPN
1110 1120 1130 1140 1150
RRIVTTVFND EGIQFLVTRY IKALNPPQQL LDIFLHNSNA TFDLIARFVS
1160 1170 1180 1190 1200
LIPFVPNTPD ENDGSDIWMT SEHCISLAIG NKEEHAILLC NFFLYFGKKA
1210 1220 1230 1240 1250
LVLLGTSVLE GHVAYVVTQE TNEYLLWNPS TGQCYKQFDP FCPLKSVDCL
1260 1270 1280 1290 1300
FDDRNVWFNI QQNNTPMAVF FDYSKESFWK QLLPKNVQGT KIQSIQPEEI
1310 1320 1330 1340 1350
IYFETDKSMV EDLRNRIERT LKSKVMEWRP KHPTHWNRQC TFILRQILPK
1360 1370 1380 1390 1400
LEFGIGSFVS SEGDNEFERI LQFYWVTGFP IQMPYIDVQS IIDAVYQTGI
1410 1420 1430
HSAEFPQTEF ALAVYIHPYP NNILSVWVYL ASLVQHQ
Length:1,437
Mass (Da):166,787
Last modified:February 26, 2020 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD6090052193446B4
GO
Isoform 2 (identifier: Q6DHV5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-975: Missing.
     1015-1076: EISGTFQVTIPPVLLGYTWSNTYVFPKEDSNEQNLKECTFLNIFATIEPQISYVTCNPTLDK → E
     1297-1375: Missing.

Show »
Length:322
Mass (Da):37,073
Checksum:iB375F2BA8D964585
GO
Isoform 3 (identifier: Q6DHV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-975: Missing.
     1015-1076: EISGTFQVTIPPVLLGYTWSNTYVFPKEDSNEQNLKECTFLNIFATIEPQISYVTCNPTLDK → E

Show »
Length:401
Mass (Da):46,746
Checksum:iC8BB4456E6A63191
GO
Isoform 4 (identifier: Q6DHV5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MKKSQREDIFKK → MGVQ
     179-184: VVNQRK → GNILSQ
     185-1437: Missing.

Show »
Length:176
Mass (Da):19,808
Checksum:i9765C52C1E321CD2
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
A0A087WWB2A0A087WWB2_HUMAN
Protein CC2D2B
CC2D2B
176Annotation 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>
B7ZBX6B7ZBX6_HUMAN
Protein CC2D2B
CC2D2B
195Annotation 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>
R4GN90R4GN90_HUMAN
Protein CC2D2B
CC2D2B
61Annotation 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>
A0A1B0GUL2A0A1B0GUL2_HUMAN
Protein CC2D2B
CC2D2B
172Annotation 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>
A0A1W2PQR2A0A1W2PQR2_HUMAN
Protein CC2D2B
CC2D2B
47Annotation 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>
A0A5S8K7B6A0A5S8K7B6_HUMAN
Protein CC2D2B
CC2D2B
1,058Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 3 (identifier: Q6DHV5-2)
<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 conflicti33S → P in BAG57652 (PubMed:14702039).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_0506971100N → D. Corresponds to variant dbSNP:rs17383738Ensembl.1
Natural variantiVAR_0506981273Y → H. Corresponds to variant dbSNP:rs9943393Ensembl.1
Natural variantiVAR_0506991437Q → L. Corresponds to variant dbSNP:rs1336459Ensembl.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_0605231 – 975Missing in isoform 2 and isoform 3. Add BLAST975
Alternative sequenceiVSP_0589291 – 12MKKSQ…DIFKK → MGVQ in isoform 4. Add BLAST12
Alternative sequenceiVSP_058932179 – 184VVNQRK → GNILSQ in isoform 4. 6
Alternative sequenceiVSP_058933185 – 1437Missing in isoform 4. Add BLAST1253
Alternative sequenceiVSP_0605241015 – 1076EISGT…PTLDK → E in isoform 2 and isoform 3. Add BLAST62
Alternative sequenceiVSP_0605251297 – 1375Missing in isoform 2. Add BLAST79

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
AK294399 mRNA Translation: BAG57652.1
AK302377 mRNA Translation: BAG63696.1
AL356155 Genomic DNA No translation available.
AL365273 Genomic DNA No translation available.
AL513355 Genomic DNA No translation available.
BC075861 mRNA Translation: AAH75861.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41555.1 [Q6DHV5-1]
CCDS53560.1 [Q6DHV5-2]
CCDS58090.1 [Q6DHV5-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001001732.2, NM_001001732.3 [Q6DHV5-1]
NP_001123918.2, NM_001130446.2 [Q6DHV5-4]
NP_001153219.1, NM_001159747.1 [Q6DHV5-2]
XP_011538097.1, XM_011539795.2 [Q6DHV5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344386; ENSP00000343747; ENSG00000188649 [Q6DHV5-1]
ENST00000410012; ENSP00000386988; ENSG00000188649 [Q6DHV5-2]
ENST00000423344; ENSP00000411850; ENSG00000188649 [Q6DHV5-4]
ENST00000646931; ENSP00000496666; ENSG00000188649 [Q6DHV5-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
387707

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:387707

UCSC genome browser

More...
UCSCi
uc001kll.4, human [Q6DHV5-5]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - 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
AK294399 mRNA Translation: BAG57652.1
AK302377 mRNA Translation: BAG63696.1
AL356155 Genomic DNA No translation available.
AL365273 Genomic DNA No translation available.
AL513355 Genomic DNA No translation available.
BC075861 mRNA Translation: AAH75861.2
CCDSiCCDS41555.1 [Q6DHV5-1]
CCDS53560.1 [Q6DHV5-2]
CCDS58090.1 [Q6DHV5-4]
RefSeqiNP_001001732.2, NM_001001732.3 [Q6DHV5-1]
NP_001123918.2, NM_001130446.2 [Q6DHV5-4]
NP_001153219.1, NM_001159747.1 [Q6DHV5-2]
XP_011538097.1, XM_011539795.2 [Q6DHV5-2]

3D structure databases

SMRiQ6DHV5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi136037, 3 interactors
IntActiQ6DHV5, 1 interactor
STRINGi9606.ENSP00000386988

PTM databases

iPTMnetiQ6DHV5
PhosphoSitePlusiQ6DHV5

Polymorphism and mutation databases

BioMutaiCC2D2B
DMDMi109821270

Proteomic databases

PaxDbiQ6DHV5
PeptideAtlasiQ6DHV5
PRIDEiQ6DHV5
ProteomicsDBi19420
4102
66224 [Q6DHV5-1]
825

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
49561, 25 antibodies

The DNASU plasmid repository

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DNASUi
387707

Genome annotation databases

EnsembliENST00000344386; ENSP00000343747; ENSG00000188649 [Q6DHV5-1]
ENST00000410012; ENSP00000386988; ENSG00000188649 [Q6DHV5-2]
ENST00000423344; ENSP00000411850; ENSG00000188649 [Q6DHV5-4]
ENST00000646931; ENSP00000496666; ENSG00000188649 [Q6DHV5-5]
GeneIDi387707
KEGGihsa:387707
UCSCiuc001kll.4, human [Q6DHV5-5]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
387707
EuPathDBiHostDB:ENSG00000173088.12
HostDB:ENSG00000188649.11

GeneCards: human genes, protein and diseases

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GeneCardsi
CC2D2B
HGNCiHGNC:31666, CC2D2B
HPAiENSG00000188649, Tissue enhanced (testis)
neXtProtiNX_Q6DHV5
OpenTargetsiENSG00000188649
PharmGKBiPA162381273

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3639, Eukaryota
GeneTreeiENSGT00940000156590
HOGENOMiCLU_020606_0_0_1
InParanoidiQ6DHV5
OMAiLQFSHHH
OrthoDBi246535at2759
PhylomeDBiQ6DHV5
TreeFamiTF333815

Enzyme and pathway databases

PathwayCommonsiQ6DHV5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
387707, 10 hits in 876 CRISPR screens

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

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ChiTaRSi
CC2D2B, human

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

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GenomeRNAii
387707
PharosiQ6DHV5, Tdark

Protein Ontology

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PROi
PR:Q6DHV5
RNActiQ6DHV5, protein

Gene expression databases

BgeeiENSG00000188649, Expressed in testis and 105 other tissues
ExpressionAtlasiQ6DHV5, baseline and differential
GenevisibleiQ6DHV5, HS

Family and domain databases

Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008, C2_dom
IPR035892, C2_domain_sf
IPR028928, CC2D2AN-C2
IPR041510, DUF5523
PfamiView protein in Pfam
PF15625, CC2D2AN-C2, 1 hit
PF17661, DUF5523, 1 hit
SMARTiView protein in SMART
SM00239, C2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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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 nameiC2D2B_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: Q6DHV5
Secondary accession number(s): A0A1B0GVB6
, A0A2R8Y8B5, A2A3E9, A6NCD4, B1AMZ2, B4DG41, B4DYD4, E9PCC3, Q5VUS0
<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: June 27, 2006
Last sequence update: February 26, 2020
Last modified: August 12, 2020
This is version 113 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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