Gene Gene information from NCBI Gene database.
Entrez ID 79628
Gene name SH3 domain and tetratricopeptide repeats 2
Gene symbol SH3TC2
Synonyms (NCBI Gene)
CMT4CMNMN
Chromosome 5
Chromosome location 5q32
Summary This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this g
SNPs SNP information provided by dbSNP.
86
SNP ID Visualize variation Clinical significance Consequence
rs71957589 GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGT Uncertain-significance, conflicting-interpretations-of-pathogenicity 3 prime UTR variant
rs80227512 G>A Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs80338919 CTCCGAGCAGC>TTACTGG Pathogenic, uncertain-significance Frameshift variant, coding sequence variant
rs80338920 T>C Pathogenic, uncertain-significance Splice acceptor variant
rs80338921 C>T Pathogenic, uncertain-significance Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
1387
miRTarBase ID miRNA Experiments Reference
MIRT017312 hsa-miR-335-5p Microarray 18185580
MIRT023599 hsa-miR-1-3p Microarray 18668037
MIRT712807 hsa-miR-5707 HITS-CLIP 19536157
MIRT712806 hsa-miR-1282 HITS-CLIP 19536157
MIRT712805 hsa-miR-8068 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20826437
GO:0005886 Component Plasma membrane IEA
GO:0022011 Process Myelination in peripheral nervous system IEA
GO:0031410 Component Cytoplasmic vesicle IEA
GO:0032287 Process Peripheral nervous system myelin maintenance IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608206 29427 ENSG00000169247
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TF17
Protein name SH3 domain and tetratricopeptide repeat-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 274 323 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and sciatic nerve. Weakly expressed in striated muscle. {ECO:0000269|PubMed:14574644}.
Sequence
MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKS
RSRRCVNGPLQEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIW
KFSTYLNLGYVSMCLEHLLFDHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFF
CRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTGQRGLVLVSALEPLPL
PFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGF
VIPGLQWFIGKSTSSGQVGFVPT
RNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTEC
SSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSS
SSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYA
DHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIR
KVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLA
CLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQ
LLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTK
LLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEHRSPDGAIHYL
SQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYN
LLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLL
QAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQL
QATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSL
RRSLTCIKESLRIFIDLGETDKAAEAWLGAGRLHYLMQEDELVELCLQAAIQTALKSEEP
LLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIFNKLTELQISLE
GYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWL
QSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNI
CQSPLWHSRPSGCSSERARWLSGGGLAL
Sequence length 1288
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2798
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Likely pathogenic; Pathogenic rs80338933, rs80338934, rs776221160, rs864622664, rs370115218, rs749850181, rs80338922, rs80338925, rs80338926, rs80338921, rs80338930, rs772823083, rs759785462, rs1554122541, rs1463859150
View all (14 more)
RCV000144877
RCV000857137
RCV000789577
RCV000789570
RCV001172827
RCV000789720
RCV000789563
RCV000857147
RCV001173151
RCV000789562
RCV000789561
RCV000789578
RCV000790335
RCV000789568
RCV001173153
RCV001027478
RCV000789566
RCV000789581
RCV000789580
RCV000789569
RCV000790210
RCV000789572
RCV000789719
RCV000789567
RCV000857161
RCV001172828
RCV001172825
RCV001172826
RCV001173152
Charcot-Marie-Tooth disease type 4 Likely pathogenic; Pathogenic rs1754320158, rs2127392839, rs1041389207, rs2127403412, rs2127393407, rs757701609, rs2127397555, rs2127397557, rs2127397561, rs2127400649, rs377509077, rs2127398588, rs1248359114, rs2127392891, rs1318388071
View all (76 more)
RCV002543553
RCV001377754
RCV001376848
RCV001379625
RCV001382126
RCV001390617
RCV001388828
RCV001385992
RCV001389903
RCV001380145
RCV001882546
RCV001939424
RCV001956024
RCV002031001
RCV001870086
RCV001994884
RCV002018432
RCV001972710
RCV001972611
RCV002026780
RCV001223054
RCV000168436
RCV000654100
RCV003061554
RCV003110497
RCV002716412
RCV002750412
RCV002881335
RCV002871731
RCV000198786
RCV000196497
RCV000195994
RCV000200652
RCV001045169
RCV000205253
RCV000204837
RCV000203755
RCV001854739
RCV000227528
RCV003582179
RCV003583698
RCV003581468
RCV003583795
RCV003745973
RCV003744249
RCV003744211
RCV003744288
RCV003744511
RCV003743365
RCV003837492
RCV003871878
RCV000206757
RCV000654080
RCV003581566
RCV000205920
RCV001851980
RCV000456313
RCV000792222
RCV000857148
RCV001851311
RCV000805465
RCV000804704
RCV000546073
RCV000549436
RCV000553453
RCV005091454
RCV000654165
RCV000654175
RCV000654098
RCV000654068
RCV000654060
RCV000702693
RCV000686216
RCV000691298
RCV000698448
RCV000707691
RCV000706056
RCV003581708
RCV001869226
RCV001234237
RCV005092378
RCV001048825
RCV000811869
RCV000806625
RCV001035277
RCV001046104
RCV001046103
RCV001044557
RCV001216729
RCV002557482
RCV001873610
RCV001308761
Charcot-Marie-Tooth disease type 4C Likely pathogenic; Pathogenic rs1754320158, rs1754425628, rs2127402263, rs2127397072, rs2127396985, rs1248359114, rs1754371447, rs2127400622, rs2127399983, rs2127392454, rs758871406, rs80338924, rs80338932, rs80338933, rs80338934
View all (52 more)
RCV004576986
RCV001332528
RCV001449914
RCV001526837
RCV003108244
RCV003388065
RCV005868494
RCV002250351
RCV002251156
RCV002271982
RCV002272790
RCV000002583
RCV000002585
RCV000002586
RCV000002588
RCV002288810
RCV002503786
RCV000203275
RCV002494535
RCV002500652
RCV005042449
RCV001535630
RCV003129574
RCV000235051
RCV005031827
RCV003227458
RCV003338058
RCV003444077
RCV004547427
RCV004547429
RCV004554974
RCV004557254
RCV000020886
RCV000020887
RCV000020888
RCV000020892
RCV000020894
RCV000020897
RCV000020898
RCV001353153
RCV004586727
RCV001353156
RCV000824889
RCV000754746
RCV000765820
RCV005034149
RCV003447550
RCV000656458
RCV005046954
RCV000754730
RCV005036104
RCV003147547
RCV005047049
RCV005036123
RCV003388840
RCV002501035
RCV000790424
RCV000824888
RCV001353166
RCV004789241
RCV000987611
RCV000987612
RCV001007463
RCV001027708
RCV005036324
RCV002290598
RCV005409778
Charcot-Marie-Tooth disease, type I Pathogenic rs1222150652 RCV000857136
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs142451273 RCV005886966
Autosomal dominant intermediate Charcot-Marie-Tooth disease Uncertain significance rs77636085 RCV000857141
Cervical cancer Conflicting classifications of pathogenicity; Benign; Likely benign rs142451273, rs115577291, rs139653980 RCV005886967
RCV005895081
RCV005890970
Charcot-Marie-Tooth disease type 1B Conflicting classifications of pathogenicity rs1561765688 RCV003126908
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 37929431
Ataxia Associate 37929431
Carpal Tunnel Syndrome Associate 20220177
Charcot Marie Tooth Disease Associate 16326826, 20220177, 25231362, 29336362, 31827005, 34193129, 37929431
Charcot Marie Tooth disease Type 2B Associate 21892769
Charcot Marie Tooth disease Type 4A Associate 37929431
Charcot Marie Tooth disease Type 4C Associate 16326826, 19744956, 21892769, 27231023, 34193129
Chromosome 5q Deletion Syndrome Inhibit 18508791
Cranial Nerve Diseases Associate 16326826, 27231023, 37929431
Deaf Blind Disorders Associate 37929431