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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

Additional gene information for CLIP2 Gene

No data available for CIViC summary , 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
GH07H074354 1.1 ENCODE dbSUPER 20.7 +65.9 65910 0.9 NFIB JUN INSM2 ZEB1 FOSL1 MTA3 PATZ1 FOS NFE2 ATF7 CLIP2 GC07P074342 PIR40199
GH07H074305 1.4 Ensembl ENCODE dbSUPER 16.1 +17.3 17289 1.7 HDAC1 PKNOX1 PTBP1 ZBTB40 EGR1 FOS ATF7 RUNX3 IKZF2 SMARCA5 CLIP2 GC07P074342
GH07H074226 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -62.4 -62418 1.7 HDGF ZNF121 POLR2A ZMYM3 GABPA CLIP2 GTF2IRD1 RFC2 LAT2 LIMK1 GC07P074231
GH07H074311 1.1 ENCODE dbSUPER 15.2 +22.9 22897 2 PKNOX1 NFXL1 CBX5 ZNF143 RCOR1 FOS SMARCA5 CEBPB ELF1 MAFF CLIP2 GC07P074342
GH07H074286 1.5 FANTOM5 ENCODE dbSUPER 11 -0.1 -106 4.9 HDGF ARNT SIN3A TCF12 ZNF143 FOS RUNX3 SMARCA4 MYNN NBN BAZ1B MIR590 LIMK1 CLIP2 POM121B GC07M074256
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000213607 425 1401 HDGF TBL1XR1 RB1 FUS SIN3A NFXL1 ZBTB40 EGR1 ZNF143 RUNX3

Genomic Locations for CLIP2 Gene

Genomic Locations for CLIP2 Gene
chr7:74,289,475-74,405,943
(GRCh38/hg38)
Size:
116,469 bases
Orientation:
Plus strand
chr7:73,703,805-73,820,273
(GRCh37/hg19)

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

No data available for DME Specific Peptides for CLIP2 Gene

Domains & Families for CLIP2 Gene

Gene Families for CLIP2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CLIP2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for CLIP2 Gene

Gene Ontology (GO) - Molecular Function for CLIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding ISS,IEA --
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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLIP2 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 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 ISS,IEA --
genes like me logo Genes that share ontologies with CLIP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLIP2 Gene

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

Drugs & Compounds for CLIP2 Gene

No Compound Related Data Available

Transcripts for CLIP2 Gene

Unigene Clusters for CLIP2 Gene

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

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for CLIP2 Gene

  • Heart(5)
  • Nervous system(4.8)
  • Blood(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLIP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CLIP2: view

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 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia CLIP2 33 34
  • 90.77 (n)
dog
(Canis familiaris)
Mammalia CLIP2 33 34
  • 88.12 (n)
mouse
(Mus musculus)
Mammalia Clip2 33 16 34
  • 85.95 (n)
rat
(Rattus norvegicus)
Mammalia Clip2 33
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia CLIP2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLIP2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLIP2 33 34
  • 76.42 (n)
lizard
(Anolis carolinensis)
Reptilia CLIP2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clip2 33
  • 66.8 (n)
zebrafish
(Danio rerio)
Actinopterygii clip2 33 34
  • 66.73 (n)
Dr.14348 33
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
rs1000047359 -- 74,336,110(+) TCACC(C/T)AGGCT intron-variant
rs1000108748 -- 74,374,889(+) CCTCT(A/G)AGAGT intron-variant
rs1000117789 -- 74,332,687(+) GAGGT(C/T)GTGGG intron-variant
rs1000150778 -- 74,380,526(+) ATATA(A/G)TAAAC intron-variant
rs1000206647 -- 74,380,109(+) CCTAC(G/T)CAGCT intron-variant

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

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

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 CC … Galjart N (Genomics 1998) 2 3 4 22 60
  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 60
  3. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne LR … Tsui LC (Genomics 1996) 2 3 4 60
  4. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (PMID: 22608712) Vandeweyer G … Kooy RF (American journal of human genetics 2012) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for CLIP2 Gene

Sources for CLIP2 Gene

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