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CLIP2 CAP-GLY domain containing linker protein 2 [ Homo sapiens (human) ]

Gene ID: 7461, updated on 7-Dec-2014
Official Symbol
CLIP2provided by HGNC
Official Full Name
CAP-GLY domain containing linker protein 2provided by HGNC
Primary source
HGNC:HGNC:2586
See related
Ensembl:ENSG00000106665; HPRD:09140; MIM:603432; Vega:OTTHUMG00000022980
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115
Summary
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]
See CLIP2 in Epigenomics, MapViewer
Location:
7q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (74289475..74405943)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73703805..73820273)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene linker for activation of T cells family, member 2 Neighboring gene replication factor C (activator 1) 2, 40kDa Neighboring gene GTF2I repeat domain containing 1 Neighboring gene RNA, 5S ribosomal pseudogene 233 Neighboring gene uncharacterized LOC101926943 Neighboring gene general transcription factor IIi

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0291, MGC11333

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule plus-end binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex TAS
Traceable Author Statement
more info
PubMed 
microtubule plus-end IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
CAP-Gly domain-containing linker protein 2
Names
CAP-Gly domain-containing linker protein 2
cytoplasmic linker 2
cytoplasmic linker protein 2
cytoplasmic linker protein 115
Williams-Beuren syndrome chromosome region 3
Williams-Beuren syndrome chromosome region 4
williams-Beuren syndrome chromosomal region 3 protein
williams-Beuren syndrome chromosomal region 4 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011830.1 

    Range
    5001..121469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003388.4NP_003379.3  CAP-Gly domain-containing linker protein 2 isoform 1

    See proteins identical to NP_003379.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full length protein.
    Source sequence(s)
    AB006629, AC005015, AL157546
    Consensus CDS
    CCDS5569.1
    UniProtKB/Swiss-Prot
    Q9UDT6
    Related
    ENSP00000223398, ENST00000223398
    Conserved Domains (3) summary
    TIGR02132
    Location:379484
    phaR_Bmeg; polyhydroxyalkanoic acid synthase, PhaR subunit
    COG1196
    Location:3571016
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    pfam01302
    Location:221286
    CAP_GLY; CAP-Gly domain
  2. NM_032421.2NP_115797.1  CAP-Gly domain-containing linker protein 2 isoform 2

    See proteins identical to NP_115797.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon within the coding region, as compared to variant 1. Isoform 2 encoded by this variant is thus missing an internal aa fragment as compared to isoform 1.
    Source sequence(s)
    AB006629, AC005015
    Consensus CDS
    CCDS5570.1
    UniProtKB/TrEMBL
    A7E2F7
    UniProtKB/Swiss-Prot
    Q9UDT6
    Related
    ENSP00000355151, OTTHUMP00000160723, ENST00000361545, OTTHUMT00000252555
    Conserved Domains (2) summary
    COG1196
    Location:350981
    Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
    pfam01302
    Location:221286
    CAP_GLY; CAP-Gly domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    74289475..74405943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    73848915..73965381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    69585136..69702500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)