SH3TC2
entrez
79628
canonical
uniprot
Q8TF17
canonical
ensembl
ENSG00000169247
resolver
ensp
ENSP00000423660
resolver
genesymbol
SH3TC2
resolver
genesymbol_syn
KIAA1985
resolver
hgnc
HGNC:29427
resolver
uniprot
A0A514TP98
resolver
uniprot
B3KWE5
resolver
uniprot
Q14CC0
resolver
uniprot
Q14CF5
resolver
uniprot
Q9H8I5
resolver
uniprot_entry
A0A514TP98_HUMAN
resolver
uniprot_entry
S3TC2_HUMAN
resolver
uniprot_sec
B3KWE5
resolver
uniprot_sec
Q14CC0
resolver
uniprot_sec
Q14CF5
resolver
uniprot_sec
Q9H8I5
resolver
amino_acid_sequence
MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKSRSRRCVNGPLQEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIWKFSTYLNLGYVSMCLEHLLFDHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFFCRALCSVTPPAEKEGECLTLCKNELISVKMAEAGSELEGVSLVTGQRGLVLVSALEPLPLPFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYEPGEKDELNFYQGESIEIIGFVIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLLALGSDKQTECSSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSSSSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYADHFKSLYDFSFSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIRKVKLSQARVYFEEAIHILNGAFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLACLPDRESSAKHELDVVAYVLRQGIVVGSSPLEARACFLAIRLLLSLGRHEEVLPFAERLQLLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQSAQGMSLPIWQVHLVLQNTTKLLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEHRSPDGAIHYLSQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYNLLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLLQAVRLYCELQASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQLQATKSLCHFYSSVSPNPEACITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSLRRSLTCIKESLRIFIDLGETDKAAEAWLGAGRLHYLMQEDELVELCLQAAIQTALKSEEPLLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIFNKLTELQISLEGYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYLKTLSLCPPWLQSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNICQSPLWHSRPSGCSSERARWLSGGGLAL
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4C (CMT4C) [MIM:601596]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating 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. {ECO:0000269|PubMed:14574644, ECO:0000269|PubMed:16924012, ECO:0000269|PubMed:34193129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: 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. {ECO:0000269|PubMed:20220177}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is involved in nerve myelination and is required for the integrity of nodes of Ranvier (By similarity). It probably functions as a Rab effector in the regulation of endocytic recycling (PubMed:20028792, PubMed:20826437). {ECO:0000250|UniProtKB:Q80VA5, ECO:0000269|PubMed:20028792, ECO:0000269|PubMed:20826437}.
uniprot
proteins
mass_dalton
144777
uniprot
proteins
mutagenesis
MUTAGEN 659; /note="L->F: No effect on interaction with RAB11A."; /evidence="ECO:0000269|PubMed:20028792"; MUTAGEN 1201..1288; /note="Missing: Fails to localize to the recycling endosome and has a non-specific cytosolic distribution. Loss of interaction with RAB11A."; /evidence="ECO:0000269|PubMed:20028792
uniprot
proteins
post_translational_modification
PTM: Myristoylated; myristoylation is required for localization to the cell membrane. {ECO:0000250|UniProtKB:Q80VA5}.
uniprot
proteins
pubmed
11853319
uniprot
proteins
pubmed
14574644
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16924012
uniprot
proteins
pubmed
20028792
uniprot
proteins
pubmed
20220177
uniprot
proteins
pubmed
20826437
uniprot
proteins
pubmed
34193129
uniprot
proteins
sequence_length
1288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VA5}. Recycling endosome {ECO:0000269|PubMed:20028792}.
uniprot
proteins