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

Gene ID: 7461, updated on 8-Dec-2018

Summary

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 MIM:603432
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]
Expression
Ubiquitous expression in brain (RPKM 29.5), colon (RPKM 11.1) and 21 other tissues See more
Orthologs

Genomic context

See CLIP2 in Genome Data Viewer
Location:
7q11.23
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (74289437..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 replication factor C subunit 2 Neighboring gene uncharacterized LOC107986742 Neighboring gene NFE2L2 motif-containing MPRA enhancer 193 Neighboring gene CAGE-defined high expression enhancer upstream of GTF2IRD1 Neighboring gene GTF2I repeat domain containing 1 Neighboring gene RNA, 5S ribosomal pseudogene 233

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0291, MGC11333

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
CAP-Gly domain-containing linker protein 2
Names
Williams-Beuren syndrome chromosome region 3
Williams-Beuren syndrome chromosome region 4
cytoplasmic linker 2
cytoplasmic linker protein 115
cytoplasmic linker protein 2
testicular tissue protein Li 40
williams-Beuren syndrome chromosomal region 3 protein
williams-Beuren syndrome chromosomal region 4 protein

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    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 identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A140VJG6
    Related
    ENSP00000223398.6, ENST00000223398.10
    Conserved Domains (3) summary
    COG1196
    Location:3571016
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam01302
    Location:222285
    CAP_GLY; CAP-Gly domain
    cl23887
    Location:379484
    DUF4349; Domain of unknown function (DUF4349)
  2. NM_032421.2NP_115797.1  CAP-Gly domain-containing linker protein 2 isoform 2

    See identical proteins and their annotated locations for 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/Swiss-Prot
    Q9UDT6
    UniProtKB/TrEMBL
    A7E2F7
    Related
    ENSP00000355151.5, ENST00000361545.9
    Conserved Domains (2) summary
    COG1196
    Location:350981
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam01302
    Location:222285
    CAP_GLY; CAP-Gly domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    74289437..74405943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001744871.1 RNA Sequence

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