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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-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169247-MONOMER.

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

HGNCiHGNC:29427. SH3TC2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 Publication1
Natural variantiVAR_018269657E → K in CMT4C. 1 PublicationCorresponds to variant rs80338925dbSNPEnsembl.1
Natural variantiVAR_018270658R → C in CMT4C. 1 PublicationCorresponds to variant rs80338926dbSNPEnsembl.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 rs80359890dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi79628.
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

PaxDbiQ8TF17.
PeptideAtlasiQ8TF17.
PRIDEiQ8TF17.

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.
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
Domaini268 – 331SH3PROSITE-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

Sequence similaritiesi

Contains 1 SH3 domain.PROSITE-ProRule annotation
Contains 8 TPR repeats.Curated

Keywords - Domaini

Repeat, SH3 domain, TPR repeat

Phylogenomic databases

eggNOGiENOG410IFSQ. Eukaryota.
ENOG410Y8HX. LUCA.
GeneTreeiENSGT00530000063812.
HOGENOMiHOG000121783.
HOVERGENiHBG054553.
InParanoidiQ8TF17.
OMAiWFLKNYP.
OrthoDBiEOG091G00MK.
PhylomeDBiQ8TF17.
TreeFamiTF333167.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR001452. SH3_domain.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00326. SH3. 1 hit.
SM00028. TPR. 4 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

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 rs80359890dbSNPEnsembl.1
Natural variantiVAR_052622171G → E.Corresponds to variant rs17722293dbSNPEnsembl.1
Natural variantiVAR_018267468A → S.2 PublicationsCorresponds to variant rs6875902dbSNPEnsembl.1
Natural variantiVAR_018268529R → Q in CMT4C. 1 Publication1
Natural variantiVAR_018269657E → K in CMT4C. 1 PublicationCorresponds to variant rs80338925dbSNPEnsembl.1
Natural variantiVAR_018270658R → C in CMT4C. 1 PublicationCorresponds to variant rs80338926dbSNPEnsembl.1
Natural variantiVAR_052623696H → R.Corresponds to variant rs17109261dbSNPEnsembl.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

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

PaxDbiQ8TF17.
PeptideAtlasiQ8TF17.
PRIDEiQ8TF17.

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.
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.
OMAiWFLKNYP.
OrthoDBiEOG091G00MK.
PhylomeDBiQ8TF17.
TreeFamiTF333167.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169247-MONOMER.

Miscellaneous databases

ChiTaRSiSH3TC2. human.
GeneWikiiSH3TC2.
GenomeRNAii79628.
PROiQ8TF17.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169247.
CleanExiHS_SH3TC2.
ExpressionAtlasiQ8TF17. baseline and differential.
GenevisibleiQ8TF17. HS.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR001452. SH3_domain.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00326. SH3. 1 hit.
SM00028. TPR. 4 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 3 hits.
SSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS3TC2_HUMAN
AccessioniPrimary (citable) accession number: Q8TF17
Secondary accession number(s): B3KWE5
, Q14CC0, Q14CF5, Q9H8I5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 2, 2016
This is version 139 of the entry and version 2 of the sequence. [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 chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.