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

    Gene ID: 79628, updated on 17-Jun-2019

    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
    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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 10809 Neighboring gene RNA, U6 small nuclear 732, pseudogene Neighboring gene SH3TC2 divergent transcript Neighboring gene microRNA 584 Neighboring gene RN7SK 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 Apr 4 07:08:55 2018

    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
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane 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, ENST00000515425.5
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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