Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79628
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 domain and tetratricopeptide repeats 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SH3TC2
Synonyms (NCBI Gene) Gene synonyms aliases
CMT4C, MNMN
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608206 29427 ENSG00000169247
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease charcot-marie-tooth disease type 4c, charcot-marie-tooth disease type 4, Charcot-Marie-Tooth Disease rs864309709, rs1580901350, rs145670786, rs1554121691, rs761972717, rs879253859, rs80338922, rs80338936, rs147895061, rs759785462, rs753287764, rs1561764735, rs80338930, rs80338925, rs80338937
View all (54 more)
N/A
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type I rs1222150652 N/A
Distal Spinal Muscular Atrophy distal spinal muscular atrophy rs145670786 N/A
Peripheral Neuropathy peripheral neuropathy rs759785462 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Ependymoma ependymoma N/A N/A ClinVar
hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy N/A N/A ClinVar
Hereditary spastic paraplegia Hereditary spastic paraplegia N/A N/A ClinVar
Associations from Text Mining Disease 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