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

Gene ID: 79628, updated on 19-Jul-2014
Official Symbol
SH3TC2provided by HGNC
Official Full Name
SH3 domain and tetratricopeptide repeats 2provided by HGNC
Primary source
HGNC:29427
Locus tag
PP12494
See related
HPRD:10496; 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]
See SH3TC2 in Epigenomics, MapViewer
Location:
5q32
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (serotonin) receptor 4, G protein-coupled Neighboring gene adrenoceptor beta 2, surface Neighboring gene uncharacterized LOC255187 Neighboring gene microRNA 584 Neighboring gene actin binding LIM protein family, member 3 Neighboring gene uncharacterized LOC101927031

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Potential readthrough

Included gene: HTR4

Homology

Clone Names

  • FLJ13605, KIAA1985

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell death IEA
Inferred from Electronic Annotation
more info
 
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
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
SH3 domain and tetratricopeptide repeat-containing protein 2
Names
SH3 domain and tetratricopeptide repeat-containing protein 2
SH3 domain and tetratricopeptide repeats-containing protein 2

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 

    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 proteins identical to NP_078853.2

    Status: REVIEWED

    Source sequence(s)
    AC011364, AC116312, AF086088, AY341075, DA856608
    Consensus CDS
    CCDS4293.1
    UniProtKB/Swiss-Prot
    Q8TF17
    Conserved Domains (4) summary
    cd00189
    Location:11341234
    Blast Score: 104
    TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...
    pfam13414
    Location:11641234
    Blast Score: 87
    TPR_11; TPR repeat
    pfam13424
    Location:838906
    Blast Score: 110
    TPR_12; Tetratricopeptide repeat
    cl17036
    Location:272326
    Blast Score: 196
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    143506997..143588011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    147794201..147875232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)