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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
48
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (24 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (87 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (62 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, type I Pathogenic rs1222150652 RCV000857136
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant intermediate Charcot-Marie-Tooth disease Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 18508791
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 37929431 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 37929431 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 19086034
★☆☆☆☆
Found in Text Mining only
Carpal Tunnel Syndrome Carpal tunnel syndrome Pubtator 20220177 Associate
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease CLINVAR_DG 14574644, 16924012, 18511281, 19272779, 25025039, 25614874
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 16924012, 19272779, 19744956, 20220177, 20826437, 21291453, 22462672, 22734908, 22978647, 23996628, 25737037, 27043305, 27231023, 29336362, 30001926
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth Disease CLINVAR_DG 14574644, 16326826, 16924012, 17470135, 18511281, 19744956, 20028792, 20220177, 20826437, 21291453, 21840889, 22978647, 23281072, 23553667, 25737037
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth Disease BEFREE 17470135, 24833716
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth Disease Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)