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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024577 Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol SH3TC2
Entrez Gene ID 79628
Full Name SH3 domain and tetratricopeptide repeats 2
Synonyms CMT4C, MNMN
General protein information
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

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 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].
Disorder

MIM: 608206

Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of

mRNA Protein Product Sequence Price Select
NM_024577, 94538341 NP_078853, 38488692 SH3 domain and tetratricopeptide repeat-containing protein 2 ORF Sequence $1500.00
Homo sapiens (human)SH3TC2NP_078853.2
Pan troglodytes (chimpanzee)SH3TC2XP_527069.2
Macaca mulatta (Rhesus monkey)SH3TC2XP_001104761.1
Canis lupus familiaris (dog)SH3TC2XP_005619374.1
Bos taurus (cattle)SH3TC2XP_002689331.1
Mus musculus (house mouse)Sh3tc2NP_766216.2
Rattus norvegicus (Norway rat)Sh3tc2XP_225887.5
Gallus gallus (chicken)SH3TC2XP_424256.4
Danio rerio (zebrafish)sh3tc2XP_005173355.1
Danio rerio (zebrafish)LOC100535152XP_003200002.2
Xenopus (Silurana) tropicalis (western clawed frog)sh3tc2XP_002939154.2
Process
IDNameEvidence
GO:0008219cell deathIEA
GO:0032287peripheral nervous system myelin maintenanceIEA
GO:0033157regulation of intracellular protein transportIEA
GO:1901184regulation of ERBB signaling pathwayIEA
Component
IDNameEvidence
GO:0005886plasma membraneIEA
GO:0031410cytoplasmic vesicleIEA
GO:0055037recycling endosomeIEA
GeneCards SH3TC2
UniProt Q8TF17
MIM 608206
HGNC 29427
HPRD 10496

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SH3TC2 gene?

The SH3TC2 gene is active in the nervous system and provides instructions for making a protein whose function is unknown. Based on its structure, the SH3TC2 protein probably interacts with other proteins and may assist in assembling proteins into a group or complex.

Interactant

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