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Entry version 161 (22 Apr 2020)
Sequence version 2 (13 Apr 2004)
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Protein

SH3 domain and tetratricopeptide repeat-containing protein 2

Gene

SH3TC2

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

<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

<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:
SH3 domain and tetratricopeptide repeat-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:SH3TC2
Synonyms:KIAA1985
ORF Names:PP12494
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29427 SH3TC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608206 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TF17

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

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

<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

Charcot-Marie-Tooth disease 4C (CMT4C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology.
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_018268529R → Q in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs863224454EnsemblClinVar.1
Natural variantiVAR_018269657E → K in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs80338925EnsemblClinVar.1
Natural variantiVAR_018270658R → C in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs80338926EnsemblClinVar.1
Mononeuropathy of the median nerve mild (MNMN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064421169Y → H in MNMN. 1 PublicationCorresponds to variant dbSNP:rs80359890EnsemblClinVar.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 - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
79628

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SH3TC2

MalaCards human disease database

More...
MalaCardsi
SH3TC2
MIMi601596 phenotype
613353 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169247

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

More...
Orphaneti
99949 Charcot-Marie-Tooth disease type 4C

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134951912

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TF17 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SH3TC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46396469

<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_00001063561 – 1288SH3 domain and tetratricopeptide repeat-containing protein 2Add BLAST1288

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TF17

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TF17

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TF17

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

More...
PaxDbi
Q8TF17

PeptideAtlas

More...
PeptideAtlasi
Q8TF17

PRoteomics IDEntifications database

More...
PRIDEi
Q8TF17

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60324
74536 [Q8TF17-1]
74537 [Q8TF17-2]
74538 [Q8TF17-3]
74539 [Q8TF17-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TF17

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

More...
PhosphoSitePlusi
Q8TF17

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

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

Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169247 Expressed in corpus callosum and 99 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TF17 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TF17 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000169247 Group enriched (brain, placenta, 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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000423660

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TF17 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>Domaini176 – 240SH3 1PROSITE-ProRule annotationAdd BLAST65
Domaini268 – 331SH3 2PROSITE-ProRule annotationAdd BLAST64
<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>Repeati528 – 561TPR 1Add BLAST34
Repeati757 – 790TPR 2Add BLAST34
Repeati836 – 869TPR 3Add BLAST34
Repeati1001 – 1037TPR 4Add BLAST37
Repeati1084 – 1118TPR 5Add BLAST35
Repeati1119 – 1152TPR 6Add BLAST34
Repeati1166 – 1199TPR 7Add BLAST34
Repeati1210 – 1244TPR 8Add BLAST35

Keywords - Domaini

Repeat, SH3 domain, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFSQ Eukaryota
ENOG410Y8HX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063812

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1739912_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TF17

Identification of Orthologs from Complete Genome Data

More...
OMAi
ACEEQAD

Database of Orthologous Groups

More...
OrthoDBi
39940at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TF17

TreeFam database of animal gene trees

More...
TreeFami
TF333167

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR042772 SH3TC1/SH3TC2
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

The PANTHER Classification System

More...
PANTHERi
PTHR22647 PTHR22647, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00018 SH3_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00326 SH3, 1 hit
SM00028 TPR, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 3 hits
SSF50044 SSF50044, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50002 SH3, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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 5 <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 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TF17-1) [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
MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP
60 70 80 90 100
DLTLSFCVKS RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV
110 120 130 140 150
SIQSQRAQFL ITFKTMEEIW KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL
160 170 180 190 200
VEDTEIQVSV DDKHLETIYL GLLIQEGHFF CRALCSVTPP AEKEGECLTL
210 220 230 240 250
CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL PFHQWFLKNY
260 270 280 290 300
PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
310 320 330 340 350
VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL
360 370 380 390 400
ALGSDKQTEC SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK
410 420 430 440 450
EVRPGRAWEE HQAVGSRQSS SSEDSSLEEE LLSATSDSYR LPEPDDLDDP
460 470 480 490 500
ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA DHFKSLYDFS FSFLTSSFYS
510 520 530 540 550
FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR KVKLSQARVY
560 570 580 590 600
FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
610 620 630 640 650
CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE
660 670 680 690 700
EVLPFAERLQ LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS
710 720 730 740 750
AQGMSLPIWQ VHLVLQNTTK LLGFPSPGWG EVSALACPML RQALAACEEL
760 770 780 790 800
ADRSTQRALC LILSKVYLEH RSPDGAIHYL SQALVLGQLL GEQESFESSL
810 820 830 840 850
CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN LLGLALQGEG
860 870 880 890 900
RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
910 920 930 940 950
QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG
960 970 980 990 1000
LRHRHLKSQL QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME
1010 1020 1030 1040 1050
GRLLESLGQL YRNLNTARSL RRSLTCIKES LRIFIDLGET DKAAEAWLGA
1060 1070 1080 1090 1100
GRLHYLMQED ELVELCLQAA IQTALKSEEP LLALKLYEEA GDVFFNGTRH
1110 1120 1130 1140 1150
RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE GYEKALEFAT
1160 1170 1180 1190 1200
LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
1210 1220 1230 1240 1250
QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ
1260 1270 1280
DTIRSRLDNI CQSPLWHSRP SGCSSERARW LSGGGLAL
Length:1,288
Mass (Da):144,777
Last modified:April 13, 2004 - v2
<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:i0E7C1B87480207B4
GO
Isoform 2 (identifier: Q8TF17-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1138: Missing.
     1139-1159: LEGYEKALEFATLAARLSTVT → MSEQMMQSVGCRISLSVFQFL

Show »
Length:150
Mass (Da):17,155
Checksum:i8A0BFC9B8FCCDC27
GO
Isoform 3 (identifier: Q8TF17-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1138: Missing.
     1139-1159: LEGYEKALEFATLAARLSTVT → MSEQMMQSVGCRISLSVFQFL
     1226-1288: DAHDATEYFL...RWLSGGGLAL → VRARLPRFPD...GGAEKTRVPR

Show »
Length:125
Mass (Da):14,597
Checksum:iBFE110205D4C92EA
GO
Isoform 4 (identifier: Q8TF17-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-453: Missing.
     959-1049: QLQATKSLCH...TDKAAEAWLG → KYVPCCWEAI...WSPWGSFIGT
     1050-1288: Missing.

Show »
Length:596
Mass (Da):66,341
Checksum:iB50F2AA6E12879C5
GO
Isoform 5 (identifier: Q8TF17-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-134: Missing.

Show »
Length:1,281
Mass (Da):144,023
Checksum:i2A839EB226735B59
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
E9PDF1E9PDF1_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
1,259Annotation 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>
H0Y8Q9H0Y8Q9_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
141Annotation 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>
D6RFX2D6RFX2_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
95Annotation 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>
D6RA65D6RA65_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
227Annotation 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>
H0Y9E7H0Y9E7_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
37Annotation 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>
A0A2R8YCS9A0A2R8YCS9_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
15Annotation 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
<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 conflicti334M → R in BAB85571 (PubMed:11853319).Curated1
Sequence conflicti1158V → I in BAB85571 (PubMed:11853319).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064421169Y → H in MNMN. 1 PublicationCorresponds to variant dbSNP:rs80359890EnsemblClinVar.1
Natural variantiVAR_052622171G → E. Corresponds to variant dbSNP:rs17722293EnsemblClinVar.1
Natural variantiVAR_018267468A → S2 PublicationsCorresponds to variant dbSNP:rs6875902EnsemblClinVar.1
Natural variantiVAR_018268529R → Q in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs863224454EnsemblClinVar.1
Natural variantiVAR_018269657E → K in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs80338925EnsemblClinVar.1
Natural variantiVAR_018270658R → C in CMT4C. 1 PublicationCorresponds to variant dbSNP:rs80338926EnsemblClinVar.1
Natural variantiVAR_052623696H → R. Corresponds to variant dbSNP:rs17109261EnsemblClinVar.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_0098841 – 1138Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST1138
Alternative sequenceiVSP_0098811 – 453Missing in isoform 4. 1 PublicationAdd BLAST453
Alternative sequenceiVSP_054499128 – 134Missing in isoform 5. 1 Publication7
Alternative sequenceiVSP_009882959 – 1049QLQAT…EAWLG → KYVPCCWEAIERSVGSSFIH FLSQVISFMSLLCVQVSFRP PNPSAISTALCPQTLRHASP TMSTGWPWLSNSGTGRWKEG CWSPWGSFIGT in isoform 4. 1 PublicationAdd BLAST91
Alternative sequenceiVSP_0098831050 – 1288Missing in isoform 4. 1 PublicationAdd BLAST239
Alternative sequenceiVSP_0098851139 – 1159LEGYE…LSTVT → MSEQMMQSVGCRISLSVFQF L in isoform 2 and isoform 3. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_0098861226 – 1288DAHDA…GGLAL → VRARLPRFPDSHHPTILLPD SKTMRSLCGGAEKTRVPR in isoform 3. 1 PublicationAdd BLAST63

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
AY341075 mRNA Translation: AAR03497.1
AK124854 mRNA Translation: BAG54107.1
AK127248 mRNA Translation: BAC86899.1
AK023667 mRNA Translation: BAB14631.1
AF370410 mRNA Translation: AAQ15246.1
AC011364 Genomic DNA No translation available.
AC116312 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61796.1
BC113879 mRNA Translation: AAI13880.1
BC114486 mRNA Translation: AAI14487.1
AB075865 mRNA Translation: BAB85571.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4293.1 [Q8TF17-1]

NCBI Reference Sequences

More...
RefSeqi
NP_078853.2, NM_024577.3 [Q8TF17-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000502274; ENSP00000421092; ENSG00000169247 [Q8TF17-2]
ENST00000512049; ENSP00000421860; ENSG00000169247 [Q8TF17-5]
ENST00000515425; ENSP00000423660; ENSG00000169247 [Q8TF17-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79628

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79628

UCSC genome browser

More...
UCSCi
uc003lpu.4 human [Q8TF17-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY341075 mRNA Translation: AAR03497.1
AK124854 mRNA Translation: BAG54107.1
AK127248 mRNA Translation: BAC86899.1
AK023667 mRNA Translation: BAB14631.1
AF370410 mRNA Translation: AAQ15246.1
AC011364 Genomic DNA No translation available.
AC116312 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61796.1
BC113879 mRNA Translation: AAI13880.1
BC114486 mRNA Translation: AAI14487.1
AB075865 mRNA Translation: BAB85571.1
CCDSiCCDS4293.1 [Q8TF17-1]
RefSeqiNP_078853.2, NM_024577.3 [Q8TF17-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

STRINGi9606.ENSP00000423660

PTM databases

iPTMnetiQ8TF17
PhosphoSitePlusiQ8TF17

Polymorphism and mutation databases

BioMutaiSH3TC2
DMDMi46396469

Proteomic databases

EPDiQ8TF17
jPOSTiQ8TF17
MassIVEiQ8TF17
PaxDbiQ8TF17
PeptideAtlasiQ8TF17
PRIDEiQ8TF17
ProteomicsDBi60324
74536 [Q8TF17-1]
74537 [Q8TF17-2]
74538 [Q8TF17-3]
74539 [Q8TF17-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
49222 68 antibodies

Genome annotation databases

EnsembliENST00000502274; ENSP00000421092; ENSG00000169247 [Q8TF17-2]
ENST00000512049; ENSP00000421860; ENSG00000169247 [Q8TF17-5]
ENST00000515425; ENSP00000423660; ENSG00000169247 [Q8TF17-1]
GeneIDi79628
KEGGihsa:79628
UCSCiuc003lpu.4 human [Q8TF17-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79628
DisGeNETi79628

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SH3TC2
GeneReviewsiSH3TC2
HGNCiHGNC:29427 SH3TC2
HPAiENSG00000169247 Group enriched (brain, placenta, testis)
MalaCardsiSH3TC2
MIMi601596 phenotype
608206 gene
613353 phenotype
neXtProtiNX_Q8TF17
OpenTargetsiENSG00000169247
Orphaneti99949 Charcot-Marie-Tooth disease type 4C
PharmGKBiPA134951912

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFSQ Eukaryota
ENOG410Y8HX LUCA
GeneTreeiENSGT00530000063812
HOGENOMiCLU_1739912_0_0_1
InParanoidiQ8TF17
OMAiACEEQAD
OrthoDBi39940at2759
PhylomeDBiQ8TF17
TreeFamiTF333167

Miscellaneous databases

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

More...
ChiTaRSi
SH3TC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SH3TC2

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

More...
GenomeRNAii
79628
PharosiQ8TF17 Tbio

Protein Ontology

More...
PROi
PR:Q8TF17
RNActiQ8TF17 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169247 Expressed in corpus callosum and 99 other tissues
ExpressionAtlasiQ8TF17 baseline and differential
GenevisibleiQ8TF17 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR042772 SH3TC1/SH3TC2
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR22647 PTHR22647, 1 hit
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 3 hits
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS3TC2_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: Q8TF17
Secondary accession number(s): B3KWE5
, Q14CC0, Q14CF5, Q9H8I5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: April 22, 2020
This is version 161 of the entry and version 2 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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