Format

Send to:

Choose Destination

SH3TC2 SH3 domain and tetratricopeptide repeats 2 [ Homo sapiens (human) ]

Gene ID: 79628, updated on 19-Aug-2018

Summary

Official Symbol
SH3TC2provided by HGNC
Official Full Name
SH3 domain and tetratricopeptide repeats 2provided by HGNC
Primary source
HGNC:HGNC:29427
See related
Ensembl:ENSG00000169247 MIM:608206; Vega:OTTHUMG00000129930
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MNMN; CMT4C
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 gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 1.4), brain (RPKM 0.6) and 6 other tissues See more
Orthologs

Genomic context

See SH3TC2 in Genome Data Viewer
Location:
5q32
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (148982150..149063174, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (148361713..148442737, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene 5-hydroxytryptamine receptor 4 Neighboring gene uncharacterized LOC105378221 Neighboring gene adrenoceptor beta 2 Neighboring gene RNA, U6 small nuclear 732, pseudogene Neighboring gene SH3TC2 divergent transcript Neighboring gene microRNA 584 Neighboring gene RNA, 7SK small nuclear pseudogene 145

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Potential readthrough

Included gene: HTR4

Homology

Clone Names

  • FLJ13605, KIAA1985

Gene Ontology Provided by GOA

Process Evidence Code Pubs
peripheral nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
regulation of ERBB signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
SH3 domain and tetratricopeptide repeat-containing protein 2
Names
SH3 domain and tetratricopeptide repeats-containing protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007947.2 RefSeqGene

    Range
    5001..86025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_269

mRNA and Protein(s)

  1. NM_024577.3NP_078853.2  SH3 domain and tetratricopeptide repeat-containing protein 2

    See identical proteins and their annotated locations for NP_078853.2

    Status: REVIEWED

    Source sequence(s)
    AC011364, AC116312, AF086088, AY341075, DA856608
    Consensus CDS
    CCDS4293.1
    UniProtKB/Swiss-Prot
    Q8TF17
    Related
    ENSP00000423660.1, OTTHUMP00000160383, ENST00000515425.5, OTTHUMT00000252186
    Conserved Domains (4) summary
    sd00006
    Location:11271154
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:11681197
    TPR_1; Tetratricopeptide repeat
    pfam13424
    Location:838906
    TPR_12; Tetratricopeptide repeat
    cl17036
    Location:272326
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    148982150..149063174 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center