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Entry version 121 (07 Oct 2020)
Sequence version 1 (24 May 2005)
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Protein

C2 calcium-dependent domain-containing protein 6

Gene

C2CD6

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q53TS8

<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:
C2 calcium-dependent domain-containing protein 6
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 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:C2CD6Imported
Synonyms:ALS2CR11
<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

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EuPathDBi
HostDB:ENSG00000155754.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14438, C2CD6

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q53TS8

<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
151254

Open Targets

More...
OpenTargetsi
ENSG00000155754

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24734

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q53TS8, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C2CD6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74726955

<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_00000761741 – 623C2 calcium-dependent domain-containing protein 6Add BLAST623

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q53TS8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q53TS8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q53TS8

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

More...
PaxDbi
Q53TS8

PeptideAtlas

More...
PeptideAtlasi
Q53TS8

PRoteomics IDEntifications database

More...
PRIDEi
Q53TS8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20317
62551 [Q53TS8-1]
62552 [Q53TS8-2]
7805

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q53TS8

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

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PhosphoSitePlusi
Q53TS8

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000155754, Expressed in testis and 112 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q53TS8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q53TS8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000155754, Tissue enriched (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

<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

Q53TS8
With#Exp.IntAct
ACOT11 - isoform 2 [Q8WXI4-2]3EBI-739879,EBI-17721098
ACTN3 [Q08043]3EBI-739879,EBI-2880652
ANKK1 [Q8NFD2]3EBI-739879,EBI-13280688
AP2B1 - isoform 2 [P63010-2]3EBI-739879,EBI-11529439
BBS4 [Q96RK4]3EBI-739879,EBI-1805814
BHLHB9 [Q6PI77]3EBI-739879,EBI-11519926
CARD9 [Q9H257]3EBI-739879,EBI-751319
CCDC172 [P0C7W6]3EBI-739879,EBI-2548868
CCDC57 - isoform 2 [Q2TAC2-2]3EBI-739879,EBI-10961624
CDR2 [Q01850]3EBI-739879,EBI-1181367
CHCHD3 [Q9NX63]3EBI-739879,EBI-743375
CNOT11 [Q9UKZ1]3EBI-739879,EBI-2562014
CT55 [Q8WUE5]3EBI-739879,EBI-6873363
DISC1 - isoform 2 [Q9NRI5-2]3EBI-739879,EBI-11988027
DNAJA3 - isoform 2 [Q96EY1-2]3EBI-739879,EBI-3952284
FAM217B [Q9NTX9]3EBI-739879,EBI-19153639
FHL2 [Q14192]3EBI-739879,EBI-701903
GOLGA2 [Q08379]6EBI-739879,EBI-618309
GRAMD4 [Q6IC98]3EBI-739879,EBI-10962409
HAP1 [P54257]3EBI-739879,EBI-712814
HSF2BP [O75031]3EBI-739879,EBI-7116203
HSPB8 [Q9UJY1]3EBI-739879,EBI-739074
IKZF3 [Q9UKT9]3EBI-739879,EBI-747204
JRK - isoform 2 [O75564-2]3EBI-739879,EBI-17181882
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-739879,EBI-14069005
KRT13 [A1A4E9]3EBI-739879,EBI-10171552
KRT15 [P19012]3EBI-739879,EBI-739566
KRT31 [Q15323]6EBI-739879,EBI-948001
KRT40 [Q6A162]3EBI-739879,EBI-10171697
KRT75 [O95678]3EBI-739879,EBI-2949715
LHX1 [P48742]5EBI-739879,EBI-11990598
LHX3 - isoform B [Q9UBR4-2]3EBI-739879,EBI-12039345
LZTS2 [Q9BRK4]3EBI-739879,EBI-741037
MCRS1 [Q96EZ8]3EBI-739879,EBI-348259
MEAF6 [Q9HAF1]3EBI-739879,EBI-399266
MEOX1 [P50221]3EBI-739879,EBI-2864512
MIPOL1 [Q8TD10]3EBI-739879,EBI-2548751
MTUS2 [Q5JR59]3EBI-739879,EBI-742948
NR5A1 [Q13285]3EBI-739879,EBI-874629
PAX6 [P26367]3EBI-739879,EBI-747278
PIBF1 [Q4G0R1]3EBI-739879,EBI-14066006
RNF8 [O76064]3EBI-739879,EBI-373337
SPATA2 [Q9UM82]3EBI-739879,EBI-744066
TACC3 [Q9Y6A5]3EBI-739879,EBI-2554984
TCP10L [Q8TDR4]3EBI-739879,EBI-3923210
TFIP11 [Q9UBB9]3EBI-739879,EBI-1105213
TLE5 - isoform 2 [Q08117-2]3EBI-739879,EBI-11741437
TRAF1 [Q13077]3EBI-739879,EBI-359224
TRAF2 [Q12933]3EBI-739879,EBI-355744
TRIM23 [P36406]3EBI-739879,EBI-740098
TRIM54 [Q9BYV2]3EBI-739879,EBI-2130429
TSSK3 [Q96PN8]3EBI-739879,EBI-3918381
VAC14 [Q08AM6]3EBI-739879,EBI-2107455
VPS52 [Q8N1B4]3EBI-739879,EBI-2799833
ZNF474 [Q6S9Z5]3EBI-739879,EBI-17269964

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
127358, 62 interactors

Protein interaction database and analysis system

More...
IntActi
Q53TS8, 64 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000409937

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q53TS8, protein

<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>Domaini87 – 222C2PROSITE-ProRule annotationAdd BLAST136

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502S23V, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018209

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_030502_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q53TS8

Identification of Orthologs from Complete Genome Data

More...
OMAi
TQSKACF

Database of Orthologous Groups

More...
OrthoDBi
179359at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q53TS8

TreeFam database of animal gene trees

More...
TreeFami
TF328407

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031462, C2CD6

The PANTHER Classification System

More...
PANTHERi
PTHR21665, PTHR21665, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15729, ALS2CR11, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004, 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
Isoform 1 (identifier: Q53TS8-1) [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
MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS
60 70 80 90 100
VPYALNQGTT ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL
110 120 130 140 150
VPFGDVVGCL GIHIKNCRHF MPKISLQHYA NLFIRISINK AVKCTKMCSL
160 170 180 190 200
LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK RNNILLELIQ YDNREKRAFL
210 220 230 240 250
LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS YGNFGYGFSH
260 270 280 290 300
QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV
310 320 330 340 350
GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI
360 370 380 390 400
LMPKLEHKDS EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA
410 420 430 440 450
NELLDNDSEK GLTIPTLNQS DQDNSTADAS KNDESTPSPT EVHSLCTISN
460 470 480 490 500
QETIKAGRIP PLGERQSESM PDRKMKNVFF PLEVKLKDNY PSILKADSSL
510 520 530 540 550
SEVAFSPKEY NSPSFRPEYI EFKPKFQDCS DKFEDLHDMT SFTHLKKVKS
560 570 580 590 600
RSRLLGKSSD DIHNHARHSA RPYTAPEVNK QRESYSGKFT SRRMVSSGLV
610 620
HINDKTSDYE MHKMRPKKIK RGY
Length:623
Mass (Da):71,159
Last modified:May 24, 2005 - 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:iE716E5F34CC3868F
GO
Isoform 2 (identifier: Q53TS8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     388-395: DIPLVNEE → GGFFTKRI
     396-623: Missing.

Show »
Length:395
Mass (Da):45,227
Checksum:iA9E422C2006325DB
GO
Isoform 3 (identifier: Q53TS8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     504-550: AFSPKEYNSP...SFTHLKKVKS → NLRSICINPK...LVSTRLKIKR
     551-623: Missing.

Show »
Length:550
Mass (Da):62,411
Checksum:i7067FA0AC430A943
GO
Isoform 4 (identifier: Q53TS8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     527-527: Q → QFQKFNKNGF...LHWTARRTIH

Show »
Length:1,820
Mass (Da):209,056
Checksum:iD564B528D1600F3D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: Q53TS8-4)
<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 conflicti698M → T in BX648732 (PubMed:17974005).Curated1
Sequence conflicti1039C → G in BX648732 (PubMed:17974005).Curated1
Sequence conflicti1559M → I in BX648732 (PubMed:17974005).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_035787123K → M in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_024769376H → Q3 PublicationsCorresponds to variant dbSNP:rs10804117Ensembl.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_016788388 – 395DIPLVNEE → GGFFTKRI in isoform 2. 1 Publication8
Alternative sequenceiVSP_016789396 – 623Missing in isoform 2. 1 PublicationAdd BLAST228
Alternative sequenceiVSP_045400504 – 550AFSPK…KKVKS → NLRSICINPKSRNLDSSPTE ISWQNNNLNLAERENTGLVS TRLKIKR in isoform 3. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_045401527Q → QFQKFNKNGFDPFLRNINKM SVRKRKDQDIYKYRNILGAE VIEHEDQDPPYPAQSKTAGP ANTTWAHDPNIFTTKMLETE NKLAPDPTINTIKGLDTKNS LKENLPNVSLPSIKGESSRA GNVQANTCHLSKSLNFTPHI EYLKQSMILKSILSENLQDL SDKLFSKPEVSMNSEAREKS SSPLLSIHDKSSSSMEDNVL EKKQDLNNWLSEKDILNSKT TLSQIIKNIPADSFSEGSQI IENIPADSLLEGGQVIKNIP EYSLSEGGQIIKNIPADSFL ESGPGQSPEVEEHVSKKHFE ADERDFPIKKNSSTKKKHLI SEVPNSKSGSSGTVHDYIMR QIFTAPIFSELEIEVKEPSE TPMNLENQLPTPWKRSLSSH ILFHEENADEIELPQPRSAT SQIIQAFPIDTLLESGIIKV IELDKEHHKSSLLGTGITSP KGNLKDSQEYYSEIRSETEP LSEQSIPIIPKDTTSVSRAE FIQEDQNMFPQDSSYYSIAN KELYLPRNGQRLCKDKNDLS STLESLTNSLMDKLSESDEI MLKSFLKNIFNVFFKYNHSE RRGQPEKELERLIQPSFTSD TEHLEELQEDFDKADKLDRK PILSPKLRVFLEELSESEVK HLKSELSKQIQHYLVERLSE SGHITKEDLPKIYQNLYLMN EKAEQKGPNSFQGKYSETVK EIMSFVNNFNHHFIDKHLEI KLRSFLKEILQNYFLKNISE SSLFNETASETIYPNISSLR TKSVSISFHELEQDISKGSF GRRFEINMKYPLSKSLQNYL IALSENELLHLKADLSKHLQ SLFIEKLSKSGLMTKKQLEG INQHINLLNSSSIPLKYIKT HLPFRDDCHFVEKHSEKQNK YSRIVQQTTLQTVSEDKLRE AELIREKEKKYFPLQNLKGN SSLIKEQKSYYTKEEAKTPS LIKVQPSSNENIQASPLSKS SEILTDILLKKLRKEHVFTQ LPQAENSVHKTEIQDPYSWG GKSKITQSKAWCEKTLKMKS LDRKEHVNIYKWTVQEKPEA VLTSYPRIPNARMPREDEYL NRITFPSWQSSTLTHFNTET GEKSKLEDQYCQTLKGNNNN NKKHLVTFAQYKKEIQTLYI KPDEICSEKCAKFPEIQSFQ YKVVEDEKNLKPHLFPELFK IEDLKPKVRKERDRVAQPKK SFNKIVRILPTTLPTTRIHL KKSVPRTLLHWTARRTIH in isoform 4. 1 Publication1
Alternative sequenceiVSP_045402551 – 623Missing in isoform 3. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK058080 mRNA Translation: BAB71654.1
AL833429 mRNA No translation available.
BX648732 mRNA No translation available.
AC007282 Genomic DNA Translation: AAY14693.1
BC030659 mRNA Translation: AAH30659.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2349.1 [Q53TS8-1]
CCDS54428.1 [Q53TS8-2]
CCDS54429.1 [Q53TS8-3]
CCDS54430.1 [Q53TS8-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001161688.1, NM_001168216.1 [Q53TS8-2]
NP_001161689.1, NM_001168217.1 [Q53TS8-3]
NP_001161693.1, NM_001168221.1 [Q53TS8-4]
NP_689738.3, NM_152525.5 [Q53TS8-1]
XP_011509038.1, XM_011510736.2 [Q53TS8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000286195; ENSP00000286195; ENSG00000155754 [Q53TS8-1]
ENST00000439140; ENSP00000409937; ENSG00000155754 [Q53TS8-4]
ENST00000439802; ENSP00000400672; ENSG00000155754 [Q53TS8-2]
ENST00000450242; ENSP00000399016; ENSG00000155754 [Q53TS8-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
151254

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:151254

UCSC genome browser

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UCSCi
uc002uye.4, human [Q53TS8-1]

<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
AK058080 mRNA Translation: BAB71654.1
AL833429 mRNA No translation available.
BX648732 mRNA No translation available.
AC007282 Genomic DNA Translation: AAY14693.1
BC030659 mRNA Translation: AAH30659.1
CCDSiCCDS2349.1 [Q53TS8-1]
CCDS54428.1 [Q53TS8-2]
CCDS54429.1 [Q53TS8-3]
CCDS54430.1 [Q53TS8-4]
RefSeqiNP_001161688.1, NM_001168216.1 [Q53TS8-2]
NP_001161689.1, NM_001168217.1 [Q53TS8-3]
NP_001161693.1, NM_001168221.1 [Q53TS8-4]
NP_689738.3, NM_152525.5 [Q53TS8-1]
XP_011509038.1, XM_011510736.2 [Q53TS8-2]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi127358, 62 interactors
IntActiQ53TS8, 64 interactors
STRINGi9606.ENSP00000409937

PTM databases

iPTMnetiQ53TS8
PhosphoSitePlusiQ53TS8

Polymorphism and mutation databases

BioMutaiC2CD6
DMDMi74726955

Proteomic databases

jPOSTiQ53TS8
MassIVEiQ53TS8
MaxQBiQ53TS8
PaxDbiQ53TS8
PeptideAtlasiQ53TS8
PRIDEiQ53TS8
ProteomicsDBi20317
62551 [Q53TS8-1]
62552 [Q53TS8-2]
7805

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
35141, 142 antibodies

Genome annotation databases

EnsembliENST00000286195; ENSP00000286195; ENSG00000155754 [Q53TS8-1]
ENST00000439140; ENSP00000409937; ENSG00000155754 [Q53TS8-4]
ENST00000439802; ENSP00000400672; ENSG00000155754 [Q53TS8-2]
ENST00000450242; ENSP00000399016; ENSG00000155754 [Q53TS8-3]
GeneIDi151254
KEGGihsa:151254
UCSCiuc002uye.4, human [Q53TS8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
151254
DisGeNETi151254
EuPathDBiHostDB:ENSG00000155754.14

GeneCards: human genes, protein and diseases

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GeneCardsi
C2CD6
HGNCiHGNC:14438, C2CD6
HPAiENSG00000155754, Tissue enriched (testis)
neXtProtiNX_Q53TS8
OpenTargetsiENSG00000155754
PharmGKBiPA24734

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502S23V, Eukaryota
GeneTreeiENSGT00390000018209
HOGENOMiCLU_030502_1_0_1
InParanoidiQ53TS8
OMAiTQSKACF
OrthoDBi179359at2759
PhylomeDBiQ53TS8
TreeFamiTF328407

Enzyme and pathway databases

PathwayCommonsiQ53TS8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
151254, 13 hits in 864 CRISPR screens

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

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ChiTaRSi
ALS2CR11, human

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

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GenomeRNAii
151254
PharosiQ53TS8, Tdark

Protein Ontology

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PROi
PR:Q53TS8
RNActiQ53TS8, protein

Gene expression databases

BgeeiENSG00000155754, Expressed in testis and 112 other tissues
ExpressionAtlasiQ53TS8, baseline and differential
GenevisibleiQ53TS8, HS

Family and domain databases

InterProiView protein in InterPro
IPR031462, C2CD6
PANTHERiPTHR21665, PTHR21665, 2 hits
PfamiView protein in Pfam
PF15729, ALS2CR11, 1 hit
PROSITEiView protein in PROSITE
PS50004, 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
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiC2CD6_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: Q53TS8
Secondary accession number(s): C9IZH7
, E9PGG4, Q8NCN6, Q96LN4
<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: January 10, 2006
Last sequence update: May 24, 2005
Last modified: October 7, 2020
This is version 121 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 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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