CLIP2
entrez
7461
canonical
uniprot
Q9UDT6
canonical
ensembl
ENSG00000106665
resolver
ensp
ENSP00000223398
resolver
ensp
ENSP00000355151
resolver
ensp
ENSP00000718219
resolver
genesymbol
CLIP2
resolver
genesymbol
CYLN2
resolver
genesymbol_syn
CYLN2
resolver
genesymbol_syn
KIAA0291
resolver
genesymbol_syn
WBSCR3
resolver
genesymbol_syn
WBSCR4
resolver
genesymbol_syn
WSCR4
resolver
hgnc
HGNC:2586
resolver
uniprot
A0A140VJG6
resolver
uniprot
A7E2F7
resolver
uniprot
O14527
resolver
uniprot
O43611
resolver
uniprot_entry
A0A140VJG6_HUMAN
resolver
uniprot_entry
A7E2F7_HUMAN
resolver
uniprot_entry
CLIP2_HUMAN
resolver
uniprot_sec
O14527
resolver
uniprot_sec
O43611
resolver
amino_acid_sequence
MQKPSGLKPPGRGGKHSSPMGRTSTGSASSSAAVAASSKEGSPLHKQSSGPSSSPAAAAAPEKPGPKAAEVGDDFLGDFVVGERVWVNGVKPGVVQYLGETQFAPGQWAGVVLDDPVGKNDGAVGGVRYFECPALQGIFTRPSKLTRQPTAEGSGSDAHSVESLTAQNLSLHSGTATPPLTSRVIPLRESVLNSSVKTGNESGSNLSDSGSVKRGEKDLRLGDRVLVGGTKTGVVRYVGETDFAKGEWCGVELDEPLGKNDGAVAGTRYFQCPPKFGLFAPIHKVIRIGFPSTSPAKAKKTKRMAMGVSALTHSPSSSSISSVSSVASSVGGRPSRSGLLTETSSRYARKISGTTALQEALKEKQQHIEQLLAERDLERAEVAKATSHICEVEKEIALLKAQHEQYVAEAEEKLQRARLLVESVRKEKVDLSNQLEEERRKVEDLQFRVEEESITKGDLETQTQLEHARIGELEQSLLLEKAQAERLLRELADNRLTTVAEKSRVLQLEEELTLRRGEIEELQQCLLHSGPPPPDHPDAAEILRLRERLLSASKEHQRESGVLRDKYEKALKAYQAEVDKLRAANEKYAQEVAGLKDKVQQATSENMGLMDNWKSKLDSLASDHQKSLEDLKATLNSGPGAQQKEIGELKAVMEGIKMEHQLELGNLQAKHDLETAMHVKEKEALREKLQEAQEELAGLQRHWRAQLEVQASQHRLELQEAQDQRRDAELRVHELEKLDVEYRGQAQAIEFLKEQISLAEKKMLDYERLQRAEAQGKQEVESLREKLLVAENRLQAVEALCSSQHTHMIESNDISEETIRTKETVEGLQDKLNKRDKEVTALTSQTEMLRAQVSALESKCKSGEKKVDALLKEKRRLEAELETVSRKTHDASGQLVLISQELLRKERSLNELRVLLLEANRHSPGPERDLSREVHKAEWRIKEQKLKDDIRGLREKLTGLDKEKSLSDQRRYSLIDRSSAPELLRLQHQLMSTEDALRDALDQAQQVEKLMEAMRSCPDKAQTIGNSGSANGIHQQDKAQKQEDKH
uniprot
proteins
disease_involvement
DISEASE: Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:9799601). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. However, it has been demonstrated that haploinsufficiency of this gene alone is not sufficient to cause any of the cognitive or facial features of WBS (PubMed:22608712). {ECO:0000305|PubMed:22608712, ECO:0000305|PubMed:9799601}.
uniprot
proteins
function
FUNCTION: Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
115837
uniprot
proteins
pubmed
11290329
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22608712
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8812460
uniprot
proteins
pubmed
9179496
uniprot
proteins
pubmed
9799601
uniprot
proteins
sequence_length
1046
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O55156}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9Z0H8}. Note=Localizes preferentially to the ends of tyrosinated microtubules. {ECO:0000250|UniProtKB:Q9Z0H8}.
uniprot
proteins