SH3TC2 cdna clone

SH3TC2 cDNA Clone

Cat. Num. AAA1272074

• Gene Names: SH3TC2; MNMN; CMT4C
• Synonyms: SH3TC2; SH3TC2 cDNA Clone; SH3TC2 cdna clone

• Sequence: ATGGGTGGCTGCTTCTGCATCCCCAGGGAGCGGAGTCTGACCCGGGGCCCAGGTAAAGAAACTCCTTCCAAGGATCCAACTGTATCGAGTGAGTGTATAGCCTCATCTGAATACAAGGAAAAATGTTTTCTGCCACAGAACATTAATCCAGACCTGACACTCTCCTTCTGTGTAAAGAGCCGCTCCAGGAGGTGTGTAAATGGACCCCTACAGGAAGCTGCTCGGAGGCGGCTCTGGGCACTGGAGAATGAGGACCAGGAGGTGCGCATGCTGTTTAAGGACCTCTCAGCAAGGTTGGTCAGTATCCAGTCTCAGAGGGCCCAGTTTCTCATCACCTTCAAGACCATGGAGGAAATCTGGAAGTTCTCCACCTACCTTAATTTAGGCTACGTATCCATGTGTCTAGAACATCTCCTCTTTGACCACAAGTACTGGCTCAACTGCATATTGGTGGAGGATACAGAGATCCAAGTGTCTGTAGATGATAAACACCTGGAAACAATATACCTGGGACTCCTGATACAGGAAGGCCACTTCTTCTGCAGAGCCCTGTGCTCCGTGACTCCACCAGCCGAGAAGGAAGGGGAATGCTTGACACTTTGCAAGAATGAGTTAATCTCAGTGAAGATGGCAGAAGCTGGCTCCGAGTTGGAAGGCGTGTCTTTGGTGACAGGTCAGCGGGGCCTGGTACTGGTGTCAGCCTTGGAGCCTCTGCCTCTCCCTTTCCACCAGTGGTTCCTAAAGAATTATCCAGGAAGCTGTGGCCTTTCCAGGAAGAGGGATTGGACAGGCTCCTATCAGATTGGCAGAGGACGCTGTAAGGCCTTGACGGGTTATGAGCCAGGAGAAAAGGATGAACTGAATTTCTACCAGGGAGAAAGCATTGAGATCATCGGCTTTGTCATACCTGGGCTTCAGTGGTTCATTGGAAAGTCGACAAGTTCAGGACAAGTGGGCTTTGTCCCCACCAGGAACATAGATCCTGATTCTTATTCCCCAATGAGCAGGAACTCTGCCTTTCTCAGTGATGAGGAGAGATGCTCCCTGTTGGCCCTGGGAAGTGATAAGCAGACTGAGTGTTCCAGCTTCCTCCACACTCTTGCTCGCACTGACATCACATCTGTCTACCGGCTCAGTGGGTTTGAATCCATCCAGAATCCTCCAAATGATCTGAGTGCATCCCAGCCTGAAGGCTTCAAGGAGGTCAGGCCTGGCAGAGCCTGGGAGGAGCATCAGGCCGTGGGGTCCAGACAGTCCAGCAGCTCTGAGGACTCCAGCCTGGAGGAGGAGCTCCTCTCGGCCACCTCAGACAGCTATCGCCTGCCGGAGCCTGATGACCTTGATGACCCGGAACTGCTCATGGACCTAAGCACTGGTCAGGAGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAGGGTTATGCTGACCACTTTAAGAGTCTCTATGACTTCTCCTTCTCTTTCCTCACTTCTTCCTTTTATAGCTTCTCTGAGGAGGATGAGTTTGTGGCCTACCTGGAGGCATCAAGAAAGTGGGCCAAGAAGAGCCACATGACCTGGGCCCATGCCCGGCTCTGCTTCCTCCTGGGCCGGCTGAGCATCAGGAAGGTCAAACTCTCTCAGGCCAGGGTGTACTTCGAGGAGGCCATCCACATTCTCAATGGAGCATTTGAGGACCTATCCTTGGTGGCCACTCTGTACATCAATTTGGCTGCCATCTACCTGAAACAGAGGCTGAGACATAAAGGCTCCGCCCTGTTGGAAAAGGCAGGTGCCCTGCTGGCCTGCCTGCCTGACCGTGAGTCTAGTGCCAAGCATGAACTCGACGTGGTGGCCTACGTGCTGCGCCAGGGGATTGTGGTGGGCAGCAGCCCGCTGGAGGCCAGGGCCTGCTTTCTGGCCATCCGCTTGCTCCTGAGCCTAGGCCGGCACGAGGAGGTCCTGCCCTTTGCCGAGCGCCTGCAGCTCCTCTCTGGACACCCTCCTGCCTCTGAGGCTGTGGCCAGTGTTTTGAGTTTTCTGTATGACAAGAAATATCTTCCACACCTTGCAGTGGCCTCTGTCCAGCAACATGGTATCCAGAGTGCCCAAGGGATGTCTCTTCCTATTTGGCAGGTCCACCTTGTCCTCCAGAACACAACCAAGCTCCTTGGCTTTCCTTCCCCAGGCTGGGGTGAAGTTTCTGCCTTGGCCTGCCCAATGCTCAGACAGGCCCTGGCTGCCTGTGAGGAACTAGCAGACCGGAGCACCCAGAGGGCCCTGTGTCTCATCCTTTCCAAAGTGTACCTCGAGCACAGGTCTCCTGACGGTGCCATCCACTACCTGAGCCAGGCCTTGGTGCTAGGGCAGCTGCTGGGTGAGCAGGAATCCTTTGAGTCTTCTCTCTGCCTGGCATGGGCCTATCTCTTAGCCAGCCAGGCCAAGAAGGCTTTGGATGTGCTTGAGCCACTGCTATGCTCCCTGAAGGAGACAGAGAGTCTCACTCAAAGGGGAGTCATCTATAACCTCCTGGGACTTGCACTCCAAGGTGAAGGCCGGGTGAACAGGGCAGCCAAGAGCTATCTTCGGGCCTTGAACAGAGCCCAGGAGGTGGGAGATGTGCATAACCAGGCAGTGGCTATGGCCAATCTTGGCCACCTGAGCCTTAAGTCCTGGGCTCAGCATCCAGCCAGAAACTATCTCCTGCAGGCTGTACGACTCTATTGTGAACTTCAGGCCAGTAAGGAGACAGACATGGAATTAGTACAGGTGTTTCTCTGGTTGGCCCAAGTTCTGGTGTCTGGACACCAGCTGACCCATGGCCTTCTTTGTTATGAAATGGCATTGCTGTTTGGCTTAAGGCATCGACATCTAAAGAGTCAGCTTCAGGCCACCAAATCCCTCTGCCATTTCTACAGCTCTGTGTCCCCAAACCCTGAGGCATGCATCACCTACCATGAGCACTGGCTGGCCCTGGCTCAGCAACTCAGGGACCGGGAGATGGAAGGGAGGCTGCTGGAGTCCCTGGGGCAGCTTTATCGGAACCTAAATACCGCCAGGTCCCTCAGGAGGTCACTCACATGCATCAAGGAGAGCCTGCGTATCTTCATTGACCTGGGGGAGACAGACAAGGCTGCTGAGGCCTGGCTTGGGGCGGGGCGACTCCACTACCTCATGCAGGAAGACGAGCTGGTGGAGCTGTGCCTGCAGGCAGCCATCCAGACAGCCCTGAAGTCAGAGGAGCCTTTGCTGGCTCTCAAACTTTATGAAGAAGCAGGTGATGTGTTCTTCAATGGGACCCGCCACAGGCATCATGCAGTGGAGTACTACCGAGCTGGAGCTGTTCCTTTAGCAAGGAGGTTGAAGGCGGTGAGAACTGAGCTCCGGATTTTCAATAAGCTGACAGAGCTGCAGATTAGCCTCGAAGGCTATGAGAAGGCTTTGGAATTTGCCACCCTGGCCGCCAGGCTCAGCACAGTCACAGGAGATCAGAGGCAAGAGCTGGTGGCCTTTCACCGCCTGGCTACAGTGTACTACTCCCTGCACATGTATGAGATGGCTGAGGACTGCTACCTGAAGACCCTGTCCCTCTGTCCACCCTGGCTGCAGAGTCCCAAGGAGGCCCTGTACTATGCCAAGGTGTATTATCGCCTGGGCAGACTCACCTTCTGCCAGCTGAAGGATGCCCATGATGCCACTGAGTACTTCCTTCTGGCCCTGGCAGCAGCGGTCCTGCTGGGTGATGAGGAGCTTCAGGACACCATTAGGAGCAGGCTGGACAACATCTGCCAGAGCCCCCTGTGGCACAGCAGGCCCTCCGGGTGCTCCTCAGAGAGGGCGCGGTGGCTGAGTGGTGGTGGCCTGGCCCTCTGA
• Sequence Length: 3867

• Vector: Please Inquire

NCBI and Uniprot Product Information

• NCBI GI #: 109731641
• NCBI GeneID: 79628
• Molecular Weight: 144,023 Da
• NCBI Official Full Name: Homo sapiens SH3 domain and tetratricopeptide repeats 2, mRNA
• NCBI Official Synonym Full Names: SH3 domain and tetratricopeptide repeats 2
• NCBI Official Symbol: SH3TC2
• NCBI Official Synonym Symbols: MNMN; CMT4C
• NCBI Protein Information: SH3 domain and tetratricopeptide repeat-containing protein 2
• UniProt Protein Name: SH3 domain and tetratricopeptide repeat-containing protein 2
• Protein Family: SH3 domain and tetratricopeptide repeat-containing protein
• UniProt Gene Name: SH3TC2
• UniProt Synonym Gene Names: KIAA1985
• UniProt Entry Name: S3TC2_HUMAN

NCBI Description

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]

Uniprot Description

SH3TC2: Defects in SH3TC2 are the cause of Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot- Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology. Defects in SH3TC2 are the cause of mononeuropathy of the median nerve mild (MNMN). A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 5q32

Disease: Charcot-marie-tooth Disease, Type 4c