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Protein

SH3 domain and tetratricopeptide repeat-containing protein 2

Gene

SH3TC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 domain and tetratricopeptide repeat-containing protein 2
Gene namesi
Name:SH3TC2
Synonyms:KIAA1985
ORF Names:PP12494
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000169247.11
HGNCiHGNC:29427 SH3TC2
MIMi608206 gene
neXtProtiNX_Q8TF17

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; Source: COMPARTMENTS

Pathology & Biotechi

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.
See also OMIM:601596
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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.
See also OMIM:613353
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064421169Y → H in MNMN. 1 PublicationCorresponds to variant dbSNP:rs80359890EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi79628
GeneReviewsiSH3TC2
MalaCardsiSH3TC2
MIMi601596 phenotype
613353 phenotype
OpenTargetsiENSG00000169247
Orphaneti99949 Charcot-Marie-Tooth disease type 4C
PharmGKBiPA134951912

Polymorphism and mutation databases

BioMutaiSH3TC2
DMDMi46396469

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063561 – 1288SH3 domain and tetratricopeptide repeat-containing protein 2Add BLAST1288

Proteomic databases

EPDiQ8TF17
PaxDbiQ8TF17
PeptideAtlasiQ8TF17
PRIDEiQ8TF17
ProteomicsDBi74536
74537 [Q8TF17-2]
74538 [Q8TF17-3]
74539 [Q8TF17-4]

PTM databases

iPTMnetiQ8TF17
PhosphoSitePlusiQ8TF17

Expressioni

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

BgeeiENSG00000169247 Expressed in 100 organ(s), highest expression level in corpus callosum
CleanExiHS_SH3TC2
ExpressionAtlasiQ8TF17 baseline and differential
GenevisibleiQ8TF17 HS

Organism-specific databases

HPAiHPA037683
HPA037684

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000423660

Structurei

3D structure databases

ProteinModelPortaliQ8TF17
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini176 – 240SH3 1PROSITE-ProRule annotationAdd BLAST65
Domaini268 – 331SH3 2PROSITE-ProRule annotationAdd BLAST64
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

eggNOGiENOG410IFSQ Eukaryota
ENOG410Y8HX LUCA
GeneTreeiENSGT00530000063812
HOGENOMiHOG000121783
HOVERGENiHBG054553
InParanoidiQ8TF17
OMAiEDTEIQV
OrthoDBiEOG091G00MK
PhylomeDBiQ8TF17
TreeFamiTF333167

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
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

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 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 'canonical' 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
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

Note: No experimental confirmation available.
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:1,281
Mass (Da):144,023
Checksum:i2A839EB226735B59
GO

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:
H0Y8Q9H0Y8Q9_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
141Annotation score:
D6RFX2D6RFX2_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
95Annotation score:
D6RA65D6RA65_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
227Annotation score:
H0Y9E7H0Y9E7_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
37Annotation score:
A0A2R8YCS9A0A2R8YCS9_HUMAN
SH3 domain and tetratricopeptide re...
SH3TC2
15Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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]
UniGeneiHs.483784

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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]
UniGeneiHs.483784

3D structure databases

ProteinModelPortaliQ8TF17
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000423660

PTM databases

iPTMnetiQ8TF17
PhosphoSitePlusiQ8TF17

Polymorphism and mutation databases

BioMutaiSH3TC2
DMDMi46396469

Proteomic databases

EPDiQ8TF17
PaxDbiQ8TF17
PeptideAtlasiQ8TF17
PRIDEiQ8TF17
ProteomicsDBi74536
74537 [Q8TF17-2]
74538 [Q8TF17-3]
74539 [Q8TF17-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi79628
DisGeNETi79628
EuPathDBiHostDB:ENSG00000169247.11
GeneCardsiSH3TC2
GeneReviewsiSH3TC2
HGNCiHGNC:29427 SH3TC2
HPAiHPA037683
HPA037684
MalaCardsiSH3TC2
MIMi601596 phenotype
608206 gene
613353 phenotype
neXtProtiNX_Q8TF17
OpenTargetsiENSG00000169247
Orphaneti99949 Charcot-Marie-Tooth disease type 4C
PharmGKBiPA134951912
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFSQ Eukaryota
ENOG410Y8HX LUCA
GeneTreeiENSGT00530000063812
HOGENOMiHOG000121783
HOVERGENiHBG054553
InParanoidiQ8TF17
OMAiEDTEIQV
OrthoDBiEOG091G00MK
PhylomeDBiQ8TF17
TreeFamiTF333167

Miscellaneous databases

ChiTaRSiSH3TC2 human
GeneWikiiSH3TC2
GenomeRNAii79628
PROiPR:Q8TF17
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169247 Expressed in 100 organ(s), highest expression level in corpus callosum
CleanExiHS_SH3TC2
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
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
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
ProtoNetiSearch...

Entry informationi

Entry nameiS3TC2_HUMAN
AccessioniPrimary (citable) accession number: Q8TF17
Secondary accession number(s): B3KWE5
, Q14CC0, Q14CF5, Q9H8I5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, 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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