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Aliases for CLIP2 Gene

Aliases for CLIP2 Gene

  • CAP-Gly Domain Containing Linker Protein 2 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 3 Protein 3 4
  • Williams-Beuren Syndrome Chromosomal Region 4 Protein 3 4
  • Williams-Beuren Syndrome Chromosome Region 3 2 3
  • Cytoplasmic Linker Protein 115 3 4
  • Cytoplasmic Linker Protein 2 3 4
  • Cytoplasmic Linker 2 2 3
  • CLIP-115 3 4
  • WBSCR3 3 4
  • WBSCR4 3 4
  • CYLN2 3 4
  • WSCR4 3 4
  • Williams-Beuren Syndrome Chromosome Region 4 3
  • CAP-Gly Domain-Containing Linker Protein 2 3
  • Testicular Tissue Protein Li 40 3
  • KIAA0291 4
  • WSCR3 3
  • CLIP 3

External Ids for CLIP2 Gene

Previous HGNC Symbols for CLIP2 Gene

  • WBSCR4
  • CYLN2
  • WBSCR3

Previous GeneCards Identifiers for CLIP2 Gene

  • GC07P073342
  • GC07P073703
  • GC07P069585

Summaries for CLIP2 Gene

Entrez Gene Summary for CLIP2 Gene

  • The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLIP2 Gene

CLIP2 (CAP-Gly Domain Containing Linker Protein 2) is a Protein Coding gene. Diseases associated with CLIP2 include Williams-Beuren Syndrome. GO annotations related to this gene include microtubule plus-end binding. An important paralog of this gene is CLIP1.

UniProtKB/Swiss-Prot for CLIP2 Gene

  • 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).

Gene Wiki entry for CLIP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLIP2 Gene

Genomics for CLIP2 Gene

Regulatory Elements for CLIP2 Gene

Enhancers for CLIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F074354 0.5 ENCODE 20.7 +65.9 65910 0.9 INSM2 SIN3A ZEB1 YY1 FOS ZNF280D ZEB2 ZNF592 SMARCA4 ZNF24 CLIP2 GC07P074342 PIR40199
GH07F074324 1.4 FANTOM5 ENCODE 16.3 +35.5 35468 1.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 CLIP2 ENSG00000277675 FKBP6 RFC2 GC07P074342
GH07F074305 1.1 Ensembl ENCODE 16.1 +17.3 17289 1.7 HDAC1 PKNOX1 CBX3 KLF17 RAD21 YY1 FOS EGR2 SMARCA5 ZNF263 CLIP2 GC07P074342
GH07F074333 0.9 FANTOM5 ENCODE 16.1 +44.7 44733 1.2 SMARCA5 ZNF146 BHLHE40 FOS NFE2L2 CLIP2 LAT2 GC07P074342
GH07F074343 0.7 ENCODE 16.1 +54.4 54362 0.9 JUN ZMYM3 ADNP SMARCC2 NR2F6 TRIM24 FOSL2 FOS CREM SMARCE1 CLIP2 BAZ1B GC07P074342 PIR40199
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CLIP2 on UCSC Golden Path with GeneCards custom track

Promoters for CLIP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000628283 625 2201 HDGF CBX3 TBL1XR1 ARNT CREB3L1 SIN3A NFXL1 ZNF48 ZBTB40 RAD21

Genomic Location for CLIP2 Gene

Chromosome:
7
Start:
74,289,475 bp from pter
End:
74,405,943 bp from pter
Size:
116,469 bases
Orientation:
Plus strand

Genomic View for CLIP2 Gene

Genes around CLIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLIP2 Gene

Proteins for CLIP2 Gene

  • Protein details for CLIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UDT6-CLIP2_HUMAN
    Recommended name:
    CAP-Gly domain-containing linker protein 2
    Protein Accession:
    Q9UDT6
    Secondary Accessions:
    • O14527
    • O43611

    Protein attributes for CLIP2 Gene

    Size:
    1046 amino acids
    Molecular mass:
    115837 Da
    Quaternary structure:
    • Interacts with CLASP1 and CLASP2 (PubMed:11290329). Binds preferentially to tyrosinated microtubules, and only marginally to detyrosinated microtubules (By similarity).
    SequenceCaution:
    • Sequence=BAA22960.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLIP2 Gene

    Alternative splice isoforms for CLIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLIP2 Gene

Post-translational modifications for CLIP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLIP2 Gene

Antibody Products

  • Abcam antibodies for CLIP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for CLIP2

No data available for DME Specific Peptides for CLIP2 Gene

Domains & Families for CLIP2 Gene

Protein Domains for CLIP2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UDT6

UniProtKB/Swiss-Prot:

CLIP2_HUMAN :
  • Contains 2 CAP-Gly domains.
Domain:
  • Contains 2 CAP-Gly domains.
genes like me logo Genes that share domains with CLIP2: view

No data available for Gene Families for CLIP2 Gene

Function for CLIP2 Gene

Molecular function for CLIP2 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for CLIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IEA,ISS --
GO:0051010 microtubule plus-end binding IEA --
genes like me logo Genes that share ontologies with CLIP2: view
genes like me logo Genes that share phenotypes with CLIP2: view

Human Phenotype Ontology for CLIP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLIP2 Gene

MGI Knock Outs for CLIP2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLIP2 Gene

Localization for CLIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLIP2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Localizes preferentially to the ends of tyrosinated microtubules. {ECO:0000250 UniProtKB:Q9Z0H8}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLIP2 Gene COMPARTMENTS Subcellular localization image for CLIP2 gene
Compartment Confidence
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for CLIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005875 microtubule associated complex TAS 9799601
GO:0005881 cytoplasmic microtubule IEA --
GO:0035371 microtubule plus-end IEA,ISS --
genes like me logo Genes that share ontologies with CLIP2: view

Pathways & Interactions for CLIP2 Gene

SuperPathways for CLIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLIP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CLIP2 Gene

Transcripts for CLIP2 Gene

Unigene Clusters for CLIP2 Gene

CAP-GLY domain containing linker protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLIP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: -
SP2:
SP3: -

Relevant External Links for CLIP2 Gene

GeneLoc Exon Structure for
CLIP2
ECgene alternative splicing isoforms for
CLIP2

Expression for CLIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLIP2 Gene

Protein differential expression in normal tissues from HIPED for CLIP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.7), Brain (10.8), Fetal Brain (10.1), Heart (9.3), and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLIP2 Gene



Protein tissue co-expression partners for CLIP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLIP2 Gene:

CLIP2

SOURCE GeneReport for Unigene cluster for CLIP2 Gene:

Hs.647018
genes like me logo Genes that share expression patterns with CLIP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CLIP2 Gene

Orthologs for CLIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLIP2 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia CLIP2 34 35
  • 90.77 (n)
dog
(Canis familiaris)
Mammalia CLIP2 34 35
  • 88.12 (n)
mouse
(Mus musculus)
Mammalia Clip2 34 16 35
  • 85.95 (n)
rat
(Rattus norvegicus)
Mammalia Clip2 34
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CLIP2 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLIP2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLIP2 34 35
  • 76.42 (n)
lizard
(Anolis carolinensis)
Reptilia CLIP2 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clip2 34
  • 66.8 (n)
zebrafish
(Danio rerio)
Actinopterygii clip2 34 35
  • 66.73 (n)
Dr.14348 34
Species where no ortholog for CLIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLIP2 Gene

ENSEMBL:
Gene Tree for CLIP2 (if available)
TreeFam:
Gene Tree for CLIP2 (if available)

Paralogs for CLIP2 Gene

Paralogs for CLIP2 Gene

(2) SIMAP similar genes for CLIP2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CLIP2 Gene

genes like me logo Genes that share paralogs with CLIP2: view

Variants for CLIP2 Gene

Sequence variations from dbSNP and Humsavar for CLIP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10156159 -- 74,384,145(+) agatc(A/G)cgcca intron-variant
rs10156213 -- 74,386,381(+) CGAGA(C/T)GGCTG intron-variant
rs10225008 -- 74,398,627(+) GCGCC(A/C)CCGAC intron-variant
rs10225771 -- 74,334,223(+) CGTGC(A/G)TGGAA intron-variant
rs10226029 -- 74,369,374(+) aagaa(A/C)caaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLIP2 Gene

Variant ID Type Subtype PubMed ID
esv2661080 CNV deletion 23128226
esv2667384 CNV deletion 23128226
esv3342425 CNV duplication 20981092
esv3541908 CNV deletion 23714750
esv3613698 CNV loss 21293372
esv3613706 CNV loss 21293372
nsv1114978 CNV deletion 24896259
nsv473222 CNV novel sequence insertion 20440878
nsv5793 CNV deletion 18451855
nsv831031 CNV loss 17160897
nsv831032 CNV loss 17160897
nsv955993 CNV deletion 24416366

Variation tolerance for CLIP2 Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLIP2 Gene

Disorders for CLIP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CLIP2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CLIP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLIP2_HUMAN
  • 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}.

Relevant External Links for CLIP2

Genetic Association Database (GAD)
CLIP2
Human Genome Epidemiology (HuGE) Navigator
CLIP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLIP2
genes like me logo Genes that share disorders with CLIP2: view

No data available for Genatlas for CLIP2 Gene

Publications for CLIP2 Gene

  1. The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. (PMID: 9799601) Hoogenraad C.C. … Galjart N. (Genomics 1998) 2 3 4 22 64
  2. Clasps are CLIP-115 and -170 associating proteins involved in the regional regulation of microtubule dynamics in motile fibroblasts. (PMID: 11290329) Akhmanova A. … Galjart N. (Cell 2001) 3 4 22 64
  3. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne L.R. … Tsui L.-C. (Genomics 1996) 2 3 4 64
  4. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (PMID: 22608712) Vandeweyer G. … Kooy R.F. (Am. J. Hum. Genet. 2012) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for CLIP2 Gene

Sources for CLIP2 Gene

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