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Entry version 159 (02 Jun 2021)
Sequence version 3 (20 May 2008)
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Protein

Protein TANC2

Gene

TANC2

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

Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines.

1 Publication

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9HCD6

<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 TANC2
Alternative name(s):
Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2
<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:TANC2
Synonyms:KIAA1148, KIAA1636
<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 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:30212, TANC2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615047, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9HCD6

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000170921.14

<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

<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 - Cellular componenti

Cell junction, Cell projection, Synapse

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, and delayed language. Some patients develop seizures.
Related information in OMIM
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_084328755R → H in IDDALDS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775421108Ensembl.1
Natural variantiVAR_069374760R → C in IDDALDS; reduced interaction with KIF1A; impaired neuronal dense core vesicles transport; no effect on dendritic spine location. 3 PublicationsCorresponds to variant dbSNP:rs1282488329Ensembl.1
Natural variantiVAR_084329794A → V in IDDALDS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084330961R → Q in IDDALDS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0843311066 – 1990Missing in IDDALDS; strongly reduced interaction with KIF1A; strongly reduced localization at the dendritic spine. 2 PublicationsAdd BLAST925
Natural variantiVAR_0843321400 – 1990Missing in IDDALDS. 1 PublicationAdd BLAST591
Natural variantiVAR_0843331483 – 1990Missing in IDDALDS. 1 PublicationAdd BLAST508
Natural variantiVAR_0843341689H → R in IDDALDS; unknown pathological significance. 1 Publication1
Defects in TANC2 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.1 Publication

Keywords - Diseasei

Autism spectrum disorder, Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
26115

MalaCards human disease database

More...
MalaCardsi
TANC2
MIMi618906, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000170921

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
528084, Non-specific syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670837

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCD6, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TANC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
189029946

<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_00003338111 – 1990Protein TANC2Add BLAST1990

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 residuei169PhosphoserineCombined sources1
Modified residuei238PhosphoserineCombined sources1
Modified residuei294PhosphoserineCombined sources1
Modified residuei400PhosphoserineCombined sources1
Modified residuei1442PhosphoserineCombined sources1
Modified residuei1458PhosphoserineCombined sources1
Modified residuei1530PhosphoserineCombined sources1
Modified residuei1545PhosphoserineCombined sources1
Modified residuei1563Asymmetric dimethylarginineBy similarity1
Modified residuei1576Asymmetric dimethylarginineBy similarity1
Modified residuei1579PhosphoserineCombined sources1
Modified residuei1722PhosphoserineCombined sources1
Modified residuei1824PhosphoserineBy similarity1
Modified residuei1827PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi1928N-linked (GlcNAc...) asparagineBy similarity1

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HCD6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HCD6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HCD6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HCD6

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

More...
PaxDbi
Q9HCD6

PeptideAtlas

More...
PeptideAtlasi
Q9HCD6

PRoteomics IDEntifications database

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PRIDEi
Q9HCD6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81677 [Q9HCD6-1]
81678 [Q9HCD6-2]
81679 [Q9HCD6-3]
81680 [Q9HCD6-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9HCD6, 1 site

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9HCD6

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

More...
PhosphoSitePlusi
Q9HCD6

<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
ENSG00000170921, Expressed in forebrain and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HCD6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HCD6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000170921, Tissue enhanced (parathyroid)

<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

Interacts with KIF1A; the interaction decreases in presence of calcium.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
117559, 46 interactors

Protein interaction database and analysis system

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IntActi
Q9HCD6, 20 interactors

Molecular INTeraction database

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MINTi
Q9HCD6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000387593

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HCD6, 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

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SMRi
Q9HCD6

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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati846 – 878ANK 1Add BLAST33
Repeati884 – 913ANK 2Add BLAST30
Repeati917 – 946ANK 3Add BLAST30
Repeati950 – 979ANK 4Add BLAST30
Repeati990 – 1019ANK 5Add BLAST30
Repeati1033 – 1062ANK 6Add BLAST30
Repeati1066 – 1095ANK 7Add BLAST30
Repeati1099 – 1128ANK 8Add BLAST30
Repeati1132 – 1161ANK 9Add BLAST30
Repeati1165 – 1194ANK 10Add BLAST30
Repeati1198 – 1227ANK 11Add BLAST30
Repeati1244 – 1277TPR 1Add BLAST34
Repeati1291 – 1324TPR 2Add BLAST34
Repeati1325 – 1358TPR 3Add BLAST34

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>Regioni1 – 85DisorderedSequence analysisAdd BLAST85
Regioni129 – 149DisorderedSequence analysisAdd BLAST21
Regioni396 – 442DisorderedSequence analysisAdd BLAST47
Regioni1372 – 1401DisorderedSequence analysisAdd BLAST30
Regioni1430 – 1586DisorderedSequence analysisAdd BLAST157
Regioni1692 – 1718DisorderedSequence analysisAdd BLAST27
Regioni1783 – 1803DisorderedSequence analysisAdd BLAST21
Regioni1821 – 1843DisorderedSequence analysisAdd BLAST23
Regioni1968 – 1990DisorderedSequence analysisAdd BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 38Basic and acidic residuesSequence analysisAdd BLAST19
Compositional biasi417 – 434Polar residuesSequence analysisAdd BLAST18
Compositional biasi1377 – 1392Pro residuesSequence analysisAdd BLAST16
Compositional biasi1446 – 1512Polar residuesSequence analysisAdd BLAST67
Compositional biasi1524 – 1540Pro residuesSequence analysisAdd BLAST17
Compositional biasi1550 – 1576Polar residuesSequence analysisAdd BLAST27
Compositional biasi1823 – 1842Polar residuesSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TANC family.Curated

Keywords - Domaini

ANK repeat, Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0504, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156447

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_001464_0_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HCD6

Identification of Orthologs from Complete Genome Data

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OMAi
ACDELSP

Database of Orthologous Groups

More...
OrthoDBi
1073736at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HCD6

TreeFam database of animal gene trees

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TreeFami
TF323159

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 1 hit
1.25.40.20, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR027417, P-loop_NTPase
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00023, Ank, 1 hit
PF12796, Ank_2, 3 hits
PF13181, TPR_8, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01415, ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248, ANK, 11 hits
SM00028, TPR, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403, SSF48403, 1 hit
SSF48452, SSF48452, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 6 hits
PS50005, TPR, 3 hits
PS50293, TPR_REGION, 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.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCD6-1) [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
MFRNSLKMLL TGGKSSRKNR SSDGGSEEPP DRRQSSVDSR QSRSGQGGIS
60 70 80 90 100
TESDCAFEPD YAVPPLPVSE GDAEQELGPP PSVDEAANTL MTRLGFLLGE
110 120 130 140 150
KVTEVQPGDQ YSMEVQDENQ TSAITQRISP CSTLTSSTAS PPASSPCSTL
160 170 180 190 200
PPISTNATAK DCSYGAVTSP TSTLESRDSG IIATLTSYSE NVERTKYAGE
210 220 230 240 250
SSKELGSGGN IKPWQSQKSS MDSCLYRVDE NMTASTYSLN KIPERNLETV
260 270 280 290 300
LSQSVQSIPL YLMPRPNSVA ATSSAHLEDL AYLDEQRHTP LRTSLRMPRQ
310 320 330 340 350
SMGGARTQQD LRVRFAPYRP PDISLKPLLF EVPSITTESV FVGRDWVFHE
360 370 380 390 400
IDAQLQSSNA SVNQGVVIVG NIGFGKTAII SRLVALSCHG TRMRQIASDS
410 420 430 440 450
PHASPKHVDA NRELPLTQPP SAHSSITSGS CPGTPEMRRR QEEAMRRLAS
460 470 480 490 500
QVVAYHYCQA DNAYTCLVPE FVHNVAALLC RSPQLTAYRE QLLREPHLQS
510 520 530 540 550
MLSLRSCVQD PMASFRRGVL EPLENLHKER KIPDEDFIIL IDGLNEAEFH
560 570 580 590 600
KPDYGDTIVS FLSKMIGKFP SWLKLIVTVR TSLQEITKLL PFHRIFLDRL
610 620 630 640 650
EENEAIDQDL QAYILHRIHS SSEIQNNISL NGKMDNTTFG KLSSHLKTLS
660 670 680 690 700
QGSYLYLKLT FDLIEKGYLV LKSSSYKVVP VSLSEVYLLQ CNMKFPTQSS
710 720 730 740 750
FDRVMPLLNV AVASLHPLTD EHIFQAINAG SIEGTLEWED FQQRMENLSM
760 770 780 790 800
FLIKRRDMTR MFVHPSFREW LIWREEGEKT KFLCDPRSGH TLLAFWFSRQ
810 820 830 840 850
EGKLNRQQTI ELGHHILKAH IFKGLSKKVG VSSSILQGLW ISYSTEGLSM
860 870 880 890 900
ALASLRNLYT PNIKVSRLLI LGGANINYRT EVLNNAPILC VQSHLGYTEM
910 920 930 940 950
VALLLEFGAN VDASSESGLT PLGYAAAAGY LSIVVLLCKK RAKVDHLDKN
960 970 980 990 1000
GQCALVHAAL RGHLEVVKFL IQCDWTMAGQ QQGVFKKSHA IQQALIAAAS
1010 1020 1030 1040 1050
MGYTEIVSYL LDLPEKDEEE VERAQINSFD SLWGETALTA AAGRGKLEVC
1060 1070 1080 1090 1100
RLLLEQGAAV AQPNRRGAVP LFSTVRQGHW QIVDLLLTHG ADVNMADKQG
1110 1120 1130 1140 1150
RTPLMMAASE GHLGTVDFLL AQGASIALMD KEGLTALSWA CLKGHLSVVR
1160 1170 1180 1190 1200
SLVDNGAATD HADKNGRTPL DLAAFYGDAE VVQFLVDHGA MIEHVDYSGM
1210 1220 1230 1240 1250
RPLDRAVGCR NTSVVVTLLK KGAKIGPATW AMATSKPDIM IILLSKLMEE
1260 1270 1280 1290 1300
GDMFYKKGKV KEAAQRYQYA LKKFPREGFG EDLKTFRELK VSLLLNLSRC
1310 1320 1330 1340 1350
RRKMNDFGMA EEFATKALEL KPKSYEAYYA RARAKRSSRQ FAAALEDLNE
1360 1370 1380 1390 1400
AIKLCPNNRE IQRLLLRVEE ECRQMQQPQQ PPPPPQPQQQ LPEEAEPEPQ
1410 1420 1430 1440 1450
HEDIYSVQDI FEEEYLEQDV ENVSIGLQTE ARPSQGLPVI QSPPSSPPHR
1460 1470 1480 1490 1500
DSAYISSSPL GSHQVFDFRS SSSVGSPTRQ TYQSTSPALS PTHQNSHYRP
1510 1520 1530 1540 1550
SPPHTSPAHQ GGSYRFSPPP VGGQGKEYPS PPPSPLRRGP QYRASPPAES
1560 1570 1580 1590 1600
MSVYRSQSGS PVRYQQETSV SQLPGRPKSP LSKMAQRPYQ MPQLPVAVPQ
1610 1620 1630 1640 1650
QGLRLQPAKA QIVRSNQPSP AVHSSTVIPT GAYGQVAHSM ASKYQSSQGD
1660 1670 1680 1690 1700
IGVSQSRLVY QGSIGGIVGD GRPVQHVQAS LSAGAICQHG GLTKEDLPQR
1710 1720 1730 1740 1750
PSSAYRGGVR YSQTPQIGRS QSASYYPVCH SKLDLERSSS QLGSPDVSHL
1760 1770 1780 1790 1800
IRRPISVNPN EIKPHPPTPR PLLHSQSVGL RFSPSSNSIS STSNLTPTFR
1810 1820 1830 1840 1850
PSSSIQQMEI PLKPAYERSC DELSPVSPTQ GGYPSEPTRS RTTPFMGIID
1860 1870 1880 1890 1900
KTARTQQYPH LHQQNRTWAV SSVDTVLSPT SPGNLPQPES FSPPSSISNI
1910 1920 1930 1940 1950
AFYNKTNNAQ NGHLLEDDYY SPHGMLANGS RGDLLERVSQ ASSYPDVKVA
1960 1970 1980 1990
RTLPVAQAYQ DNLYRQLSRD SRQGQTSPIK PKRPFVESNV
Length:1,990
Mass (Da):219,650
Last modified:May 20, 2008 - 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:iE835D98F5C546365
GO
Isoform 2 (identifier: Q9HCD6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1225-1225: I → IGCQTLPSRPR

Show »
Length:2,000
Mass (Da):220,746
Checksum:iCABC5E9427E0AB68
GO
Isoform 3 (identifier: Q9HCD6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     944-971: VDHLDKNGQCALVHAALRGHLEVVKFLI → VLAAQLCCFSSLFLYFRCILFLISSVTS
     972-1990: Missing.

Show »
Length:971
Mass (Da):107,895
Checksum:iA081DBE1D3316880
GO
Isoform 4 (identifier: Q9HCD6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1006-1010: IVSYL → VRSRQ
     1011-1990: Missing.

Show »
Length:1,010
Mass (Da):112,154
Checksum:i38BFC3EE8DD7BD26
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRP9J3KRP9_HUMAN
Protein TANC2
TANC2
1,254Annotation 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>
J3KTM5J3KTM5_HUMAN
Protein TANC2
TANC2
152Annotation 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>
J3QQY7J3QQY7_HUMAN
Protein TANC2
TANC2
111Annotation 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>
J3QRF0J3QRF0_HUMAN
Protein TANC2
TANC2
135Annotation 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 CAB92314 differs from that shown. Reason: Frameshift.Curated
The sequence CAB92314 differs from that shown. Reason: Frameshift.Curated
The sequence CAB92314 differs from that shown. Reason: Erroneous initiation. Truncated 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 conflicti1210R → P in CAB92314 (Ref. 4) Curated1
Sequence conflicti1234T → P in CAB92314 (Ref. 4) Curated1
Sequence conflicti1249E → K in CAB92314 (Ref. 4) Curated1
Sequence conflicti1285T → P in CAB92314 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_084328755R → H in IDDALDS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs775421108Ensembl.1
Natural variantiVAR_069374760R → C in IDDALDS; reduced interaction with KIF1A; impaired neuronal dense core vesicles transport; no effect on dendritic spine location. 3 PublicationsCorresponds to variant dbSNP:rs1282488329Ensembl.1
Natural variantiVAR_084329794A → V in IDDALDS; unknown pathological significance. 1 Publication1
Natural variantiVAR_084330961R → Q in IDDALDS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0843311066 – 1990Missing in IDDALDS; strongly reduced interaction with KIF1A; strongly reduced localization at the dendritic spine. 2 PublicationsAdd BLAST925
Natural variantiVAR_0798531280G → V Found in a patient with isolated coloboma; unknown pathological significance. 1 Publication1
Natural variantiVAR_0843321400 – 1990Missing in IDDALDS. 1 PublicationAdd BLAST591
Natural variantiVAR_0843331483 – 1990Missing in IDDALDS. 1 PublicationAdd BLAST508
Natural variantiVAR_0843341689H → R in IDDALDS; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_033546944 – 971VDHLD…VKFLI → VLAAQLCCFSSLFLYFRCIL FLISSVTS in isoform 3. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_033547972 – 1990Missing in isoform 3. 1 PublicationAdd BLAST1019
Alternative sequenceiVSP_0335481006 – 1010IVSYL → VRSRQ in isoform 4. 1 Publication5
Alternative sequenceiVSP_0335491011 – 1990Missing in isoform 4. 1 PublicationAdd BLAST980
Alternative sequenceiVSP_0335501225I → IGCQTLPSRPR in isoform 2. 1 Publication1

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
AC005828 Genomic DNA No translation available.
AC005972 Genomic DNA No translation available.
AC006270 Genomic DNA No translation available.
AC015923 Genomic DNA No translation available.
AB046856 mRNA Translation: BAB13462.2
AK001077 mRNA No translation available.
AK021886 mRNA No translation available.
AJ278120 mRNA Translation: CAB92314.1 Sequence problems.
AB032974 mRNA Translation: BAA86462.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45754.1 [Q9HCD6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_079461.2, NM_025185.3 [Q9HCD6-1]
XP_005257260.1, XM_005257203.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389520; ENSP00000374171; ENSG00000170921 [Q9HCD6-2]
ENST00000424789; ENSP00000387593; ENSG00000170921 [Q9HCD6-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26115

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26115

UCSC genome browser

More...
UCSCi
uc002jal.5, human [Q9HCD6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AC005828 Genomic DNA No translation available.
AC005972 Genomic DNA No translation available.
AC006270 Genomic DNA No translation available.
AC015923 Genomic DNA No translation available.
AB046856 mRNA Translation: BAB13462.2
AK001077 mRNA No translation available.
AK021886 mRNA No translation available.
AJ278120 mRNA Translation: CAB92314.1 Sequence problems.
AB032974 mRNA Translation: BAA86462.2
CCDSiCCDS45754.1 [Q9HCD6-1]
RefSeqiNP_079461.2, NM_025185.3 [Q9HCD6-1]
XP_005257260.1, XM_005257203.4

3D structure databases

SMRiQ9HCD6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117559, 46 interactors
IntActiQ9HCD6, 20 interactors
MINTiQ9HCD6
STRINGi9606.ENSP00000387593

PTM databases

GlyGeniQ9HCD6, 1 site
iPTMnetiQ9HCD6
PhosphoSitePlusiQ9HCD6

Genetic variation databases

BioMutaiTANC2
DMDMi189029946

Proteomic databases

EPDiQ9HCD6
jPOSTiQ9HCD6
MassIVEiQ9HCD6
MaxQBiQ9HCD6
PaxDbiQ9HCD6
PeptideAtlasiQ9HCD6
PRIDEiQ9HCD6
ProteomicsDBi81677 [Q9HCD6-1]
81678 [Q9HCD6-2]
81679 [Q9HCD6-3]
81680 [Q9HCD6-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
9399, 14 antibodies

The DNASU plasmid repository

More...
DNASUi
26115

Genome annotation databases

EnsembliENST00000389520; ENSP00000374171; ENSG00000170921 [Q9HCD6-2]
ENST00000424789; ENSP00000387593; ENSG00000170921 [Q9HCD6-1]
GeneIDi26115
KEGGihsa:26115
UCSCiuc002jal.5, human [Q9HCD6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26115
DisGeNETi26115

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TANC2
HGNCiHGNC:30212, TANC2
HPAiENSG00000170921, Tissue enhanced (parathyroid)
MalaCardsiTANC2
MIMi615047, gene
618906, phenotype
neXtProtiNX_Q9HCD6
OpenTargetsiENSG00000170921
Orphaneti528084, Non-specific syndromic intellectual disability
PharmGKBiPA142670837
VEuPathDBiHostDB:ENSG00000170921.14

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504, Eukaryota
GeneTreeiENSGT00940000156447
HOGENOMiCLU_001464_0_1_1
InParanoidiQ9HCD6
OMAiACDELSP
OrthoDBi1073736at2759
PhylomeDBiQ9HCD6
TreeFamiTF323159

Enzyme and pathway databases

PathwayCommonsiQ9HCD6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
26115, 4 hits in 993 CRISPR screens

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

More...
ChiTaRSi
TANC2, human

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

More...
GenomeRNAii
26115
PharosiQ9HCD6, Tdark

Protein Ontology

More...
PROi
PR:Q9HCD6
RNActiQ9HCD6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000170921, Expressed in forebrain and 212 other tissues
ExpressionAtlasiQ9HCD6, baseline and differential
GenevisibleiQ9HCD6, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR027417, P-loop_NTPase
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PfamiView protein in Pfam
PF00023, Ank, 1 hit
PF12796, Ank_2, 3 hits
PF13181, TPR_8, 2 hits
PRINTSiPR01415, ANKYRIN
SMARTiView protein in SMART
SM00248, ANK, 11 hits
SM00028, TPR, 3 hits
SUPFAMiSSF48403, SSF48403, 1 hit
SSF48452, SSF48452, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 6 hits
PS50005, TPR, 3 hits
PS50293, TPR_REGION, 1 hit

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 nameiTANC2_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: Q9HCD6
Secondary accession number(s): Q9HAC3
, Q9NW88, Q9NXY9, Q9ULS2
<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: May 20, 2008
Last sequence update: May 20, 2008
Last modified: June 2, 2021
This is version 159 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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