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Protein

CAP-Gly domain-containing linker protein 2

Gene

CLIP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
CAP-Gly domain-containing linker protein 2
Alternative name(s):
Cytoplasmic linker protein 115
Short name:
CLIP-115
Cytoplasmic linker protein 2
Williams-Beuren syndrome chromosomal region 3 protein
Williams-Beuren syndrome chromosomal region 4 protein
Gene namesi
Name:CLIP2
Synonyms:CYLN2, KIAA0291, WBSCR3, WBSCR4, WSCR4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106665.15
HGNCiHGNC:2586 CLIP2
MIMi603432 gene
neXtProtiNX_Q9UDT6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

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).2 Publications

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi7461
MalaCardsiCLIP2
OpenTargetsiENSG00000106665
Orphaneti904 Williams syndrome
PharmGKBiPA27085

Polymorphism and mutation databases

BioMutaiCLIP2
DMDMi74753268

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000835151 – 1046CAP-Gly domain-containing linker protein 2Add BLAST1046

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei49PhosphoserineBy similarity1
Modified residuei202PhosphoserineBy similarity1
Modified residuei207PhosphoserineBy similarity1
Modified residuei211PhosphoserineBy similarity1
Modified residuei314PhosphoserineBy similarity1
Modified residuei923PhosphoserineCombined sources1
Modified residuei973PhosphoserineBy similarity1
Modified residuei979PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UDT6
PaxDbiQ9UDT6
PeptideAtlasiQ9UDT6
PRIDEiQ9UDT6
ProteomicsDBi84116
84117 [Q9UDT6-2]

PTM databases

CarbonylDBiQ9UDT6
iPTMnetiQ9UDT6
PhosphoSitePlusiQ9UDT6
SwissPalmiQ9UDT6

Expressioni

Gene expression databases

BgeeiENSG00000106665 Expressed in 184 organ(s), highest expression level in frontal cortex
CleanExiHS_CLIP2
ExpressionAtlasiQ9UDT6 baseline and differential
GenevisibleiQ9UDT6 HS

Organism-specific databases

HPAiCAB020767
HPA020430

Interactioni

Subunit structurei

Interacts with CLASP1 and CLASP2 (PubMed:11290329). Binds preferentially to tyrosinated microtubules, and only marginally to detyrosinated microtubules (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113300, 11 interactors
IntActiQ9UDT6, 9 interactors
STRINGi9606.ENSP00000223398

Structurei

Secondary structure

11046
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UDT6
SMRiQ9UDT6
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UDT6

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini99 – 141CAP-Gly 1PROSITE-ProRule annotationAdd BLAST43
Domaini239 – 281CAP-Gly 2PROSITE-ProRule annotationAdd BLAST43

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili354 – 524Sequence analysisAdd BLAST171
Coiled coili561 – 636Sequence analysisAdd BLAST76
Coiled coili673 – 1016Sequence analysisAdd BLAST344

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi314 – 345Ser-richAdd BLAST32

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG4568 Eukaryota
COG5244 LUCA
GeneTreeiENSGT00760000119173
HOGENOMiHOG000092755
HOVERGENiHBG007123
InParanoidiQ9UDT6
KOiK10422
OMAiNMIESND
OrthoDBiEOG091G0J1Y
PhylomeDBiQ9UDT6
TreeFamiTF326096

Family and domain databases

Gene3Di2.30.30.190, 2 hits
InterProiView protein in InterPro
IPR036859 CAP-Gly_dom_sf
IPR000938 CAP-Gly_domain
IPR028394 CLIP2
PANTHERiPTHR18916:SF10 PTHR18916:SF10, 1 hit
PfamiView protein in Pfam
PF01302 CAP_GLY, 2 hits
SMARTiView protein in SMART
SM01052 CAP_GLY, 2 hits
SUPFAMiSSF74924 SSF74924, 2 hits
PROSITEiView protein in PROSITE
PS00845 CAP_GLY_1, 2 hits
PS50245 CAP_GLY_2, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UDT6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQKPSGLKPP GRGGKHSSPM GRTSTGSASS SAAVAASSKE GSPLHKQSSG
60 70 80 90 100
PSSSPAAAAA PEKPGPKAAE VGDDFLGDFV VGERVWVNGV KPGVVQYLGE
110 120 130 140 150
TQFAPGQWAG VVLDDPVGKN DGAVGGVRYF ECPALQGIFT RPSKLTRQPT
160 170 180 190 200
AEGSGSDAHS VESLTAQNLS LHSGTATPPL TSRVIPLRES VLNSSVKTGN
210 220 230 240 250
ESGSNLSDSG SVKRGEKDLR LGDRVLVGGT KTGVVRYVGE TDFAKGEWCG
260 270 280 290 300
VELDEPLGKN DGAVAGTRYF QCPPKFGLFA PIHKVIRIGF PSTSPAKAKK
310 320 330 340 350
TKRMAMGVSA LTHSPSSSSI SSVSSVASSV GGRPSRSGLL TETSSRYARK
360 370 380 390 400
ISGTTALQEA LKEKQQHIEQ LLAERDLERA EVAKATSHIC EVEKEIALLK
410 420 430 440 450
AQHEQYVAEA EEKLQRARLL VESVRKEKVD LSNQLEEERR KVEDLQFRVE
460 470 480 490 500
EESITKGDLE TQTQLEHARI GELEQSLLLE KAQAERLLRE LADNRLTTVA
510 520 530 540 550
EKSRVLQLEE ELTLRRGEIE ELQQCLLHSG PPPPDHPDAA EILRLRERLL
560 570 580 590 600
SASKEHQRES GVLRDKYEKA LKAYQAEVDK LRAANEKYAQ EVAGLKDKVQ
610 620 630 640 650
QATSENMGLM DNWKSKLDSL ASDHQKSLED LKATLNSGPG AQQKEIGELK
660 670 680 690 700
AVMEGIKMEH QLELGNLQAK HDLETAMHVK EKEALREKLQ EAQEELAGLQ
710 720 730 740 750
RHWRAQLEVQ ASQHRLELQE AQDQRRDAEL RVHELEKLDV EYRGQAQAIE
760 770 780 790 800
FLKEQISLAE KKMLDYERLQ RAEAQGKQEV ESLREKLLVA ENRLQAVEAL
810 820 830 840 850
CSSQHTHMIE SNDISEETIR TKETVEGLQD KLNKRDKEVT ALTSQTEMLR
860 870 880 890 900
AQVSALESKC KSGEKKVDAL LKEKRRLEAE LETVSRKTHD ASGQLVLISQ
910 920 930 940 950
ELLRKERSLN ELRVLLLEAN RHSPGPERDL SREVHKAEWR IKEQKLKDDI
960 970 980 990 1000
RGLREKLTGL DKEKSLSDQR RYSLIDRSSA PELLRLQHQL MSTEDALRDA
1010 1020 1030 1040
LDQAQQVEKL MEAMRSCPDK AQTIGNSGSA NGIHQQDKAQ KQEDKH
Length:1,046
Mass (Da):115,837
Last modified:May 1, 2000 - v1
Checksum:i7A0B3C796E1C6E25
GO
Isoform 2 (identifier: Q9UDT6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     461-495: Missing.

Show »
Length:1,011
Mass (Da):111,782
Checksum:i2CFCD1B101162B1C
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4L6H7C4L6_HUMAN
CAP-Gly domain-containing linker pr...
CLIP2
187Annotation score:
H7C5H8H7C5H8_HUMAN
CAP-Gly domain-containing linker pr...
CLIP2
28Annotation score:

Sequence cautioni

The sequence BAA22960 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055636961D → E. Corresponds to variant dbSNP:rs17145468Ensembl.1
Natural variantiVAR_023618977R → P1 PublicationCorresponds to variant dbSNP:rs2522943Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015682461 – 495Missing in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006629 mRNA Translation: BAA22960.2 Different initiation.
AC005015 Genomic DNA Translation: AAF03524.1
AF041059
, AF041055, AF041056, AF041057, AF041058 Genomic DNA Translation: AAB96784.1
CCDSiCCDS5569.1 [Q9UDT6-1]
CCDS5570.1 [Q9UDT6-2]
RefSeqiNP_003379.3, NM_003388.4
NP_115797.1, NM_032421.2
UniGeneiHs.647018

Genome annotation databases

EnsembliENST00000223398; ENSP00000223398; ENSG00000106665 [Q9UDT6-1]
ENST00000361545; ENSP00000355151; ENSG00000106665 [Q9UDT6-2]
ENST00000395060; ENSP00000378500; ENSG00000106665 [Q9UDT6-1]
GeneIDi7461
KEGGihsa:7461
UCSCiuc003uam.3 human [Q9UDT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006629 mRNA Translation: BAA22960.2 Different initiation.
AC005015 Genomic DNA Translation: AAF03524.1
AF041059
, AF041055, AF041056, AF041057, AF041058 Genomic DNA Translation: AAB96784.1
CCDSiCCDS5569.1 [Q9UDT6-1]
CCDS5570.1 [Q9UDT6-2]
RefSeqiNP_003379.3, NM_003388.4
NP_115797.1, NM_032421.2
UniGeneiHs.647018

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CP2NMR-A68-149[»]
2CP3NMR-A219-289[»]
ProteinModelPortaliQ9UDT6
SMRiQ9UDT6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113300, 11 interactors
IntActiQ9UDT6, 9 interactors
STRINGi9606.ENSP00000223398

PTM databases

CarbonylDBiQ9UDT6
iPTMnetiQ9UDT6
PhosphoSitePlusiQ9UDT6
SwissPalmiQ9UDT6

Polymorphism and mutation databases

BioMutaiCLIP2
DMDMi74753268

Proteomic databases

EPDiQ9UDT6
PaxDbiQ9UDT6
PeptideAtlasiQ9UDT6
PRIDEiQ9UDT6
ProteomicsDBi84116
84117 [Q9UDT6-2]

Protocols and materials databases

DNASUi7461
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223398; ENSP00000223398; ENSG00000106665 [Q9UDT6-1]
ENST00000361545; ENSP00000355151; ENSG00000106665 [Q9UDT6-2]
ENST00000395060; ENSP00000378500; ENSG00000106665 [Q9UDT6-1]
GeneIDi7461
KEGGihsa:7461
UCSCiuc003uam.3 human [Q9UDT6-1]

Organism-specific databases

CTDi7461
DisGeNETi7461
EuPathDBiHostDB:ENSG00000106665.15
GeneCardsiCLIP2
HGNCiHGNC:2586 CLIP2
HPAiCAB020767
HPA020430
MalaCardsiCLIP2
MIMi603432 gene
neXtProtiNX_Q9UDT6
OpenTargetsiENSG00000106665
Orphaneti904 Williams syndrome
PharmGKBiPA27085
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4568 Eukaryota
COG5244 LUCA
GeneTreeiENSGT00760000119173
HOGENOMiHOG000092755
HOVERGENiHBG007123
InParanoidiQ9UDT6
KOiK10422
OMAiNMIESND
OrthoDBiEOG091G0J1Y
PhylomeDBiQ9UDT6
TreeFamiTF326096

Miscellaneous databases

ChiTaRSiCLIP2 human
EvolutionaryTraceiQ9UDT6
GeneWikiiCLIP2
GenomeRNAii7461
PROiPR:Q9UDT6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106665 Expressed in 184 organ(s), highest expression level in frontal cortex
CleanExiHS_CLIP2
ExpressionAtlasiQ9UDT6 baseline and differential
GenevisibleiQ9UDT6 HS

Family and domain databases

Gene3Di2.30.30.190, 2 hits
InterProiView protein in InterPro
IPR036859 CAP-Gly_dom_sf
IPR000938 CAP-Gly_domain
IPR028394 CLIP2
PANTHERiPTHR18916:SF10 PTHR18916:SF10, 1 hit
PfamiView protein in Pfam
PF01302 CAP_GLY, 2 hits
SMARTiView protein in SMART
SM01052 CAP_GLY, 2 hits
SUPFAMiSSF74924 SSF74924, 2 hits
PROSITEiView protein in PROSITE
PS00845 CAP_GLY_1, 2 hits
PS50245 CAP_GLY_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCLIP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UDT6
Secondary accession number(s): O14527, O43611
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 147 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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