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Aliases for CLVS2 Gene

Aliases for CLVS2 Gene

  • Clavesin 2 2 3 5
  • Clathrin Vesicle-Associated Sec14 Protein 2 3 4
  • Retinaldehyde Binding Protein 1-Like 2 2 3
  • C6orf212 3 4
  • C6orf213 3 4
  • RLBP1L2 3 4
  • Retinaldehyde-Binding Protein 1-Like 2 4
  • Chromosome 6 Open Reading Frame 212 2
  • Chromosome 6 Open Reading Frame 213 2
  • BA160A10.4 3
  • Clavesin-2 3

External Ids for CLVS2 Gene

Previous HGNC Symbols for CLVS2 Gene

  • C6orf212
  • C6orf213
  • RLBP1L2

Previous GeneCards Identifiers for CLVS2 Gene

  • GC06P123360
  • GC06P120894

Summaries for CLVS2 Gene

Entrez Gene Summary for CLVS2 Gene

  • This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]

GeneCards Summary for CLVS2 Gene

CLVS2 (Clavesin 2) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include transporter activity and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is CLVS1.

UniProtKB/Swiss-Prot for CLVS2 Gene

  • Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLVS2 Gene

Genomics for CLVS2 Gene

Regulatory Elements for CLVS2 Gene

Enhancers for CLVS2 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
GH06F123029 1 FANTOM5 17.9 +33.4 33375 0.3 CLVS2 GC06P123069
GH06F123055 0.7 ENCODE 8.3 +60.9 60915 2.2 ELF3 ATF1 ARID4B RAD21 RARA KAT2B GATA4 CREM MIXL1 HMG20B CLVS2 GC06P123069
GH06F123090 0.8 ENCODE 4.3 +95.5 95505 2.5 RFX1 PKNOX1 DPF2 FEZF1 NR3C1 MBD2 GATA3 SCRT2 FOSL2 FOS CLVS2 GC06P123069 LOC105377984
GH06F122838 0.6 FANTOM5 3.5 -156.9 -156922 0.3 CLVS2 FABP7 GC06M122860 SMPDL3A
GH06F122832 0.7 FANTOM5 ENCODE 2.3 -162.8 -162791 0.8 OSR2 SMARCA4 POLR2A ZEB2 ZNF843 WT1 ATF2 ZNF18 FABP7 SMPDL3A PKIB SERINC1 CLVS2 GC06M122860
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CLVS2 on UCSC Golden Path with GeneCards custom track

Promoters for CLVS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001884583 529 601 ZIC2 ZNF2 GLIS2 CTBP1 ZBTB48 POLR2A ZNF366 PRDM10 ZNF600 KLF8

Genomic Location for CLVS2 Gene

Chromosome:
6
Start:
122,995,971 bp from pter
End:
123,072,927 bp from pter
Size:
76,957 bases
Orientation:
Plus strand

Genomic View for CLVS2 Gene

Genes around CLVS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLVS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLVS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLVS2 Gene

Proteins for CLVS2 Gene

  • Protein details for CLVS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SYC1-CLVS2_HUMAN
    Recommended name:
    Clavesin-2
    Protein Accession:
    Q5SYC1
    Secondary Accessions:
    • B3KTG5
    • B4DHL0
    • C8UZT4
    • Q5SYC0

    Protein attributes for CLVS2 Gene

    Size:
    327 amino acids
    Molecular mass:
    38000 Da
    Quaternary structure:
    • Forms a complex with clathrin heavy chain and gamma-adaptin.
    Miscellaneous:
    • Binding to PtdIns(3,5)P2 is not required for localization.

    Alternative splice isoforms for CLVS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLVS2 Gene

Post-translational modifications for CLVS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLVS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLVS2 Gene

Domains & Families for CLVS2 Gene

Suggested Antigen Peptide Sequences for CLVS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5SYC1

UniProtKB/Swiss-Prot:

CLVS2_HUMAN :
  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
Domain:
  • The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.
  • Contains 1 CRAL-TRIO domain.
genes like me logo Genes that share domains with CLVS2: view

No data available for Gene Families for CLVS2 Gene

Function for CLVS2 Gene

Molecular function for CLVS2 Gene

UniProtKB/Swiss-Prot Function:
Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

Gene Ontology (GO) - Molecular Function for CLVS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA 19651769
genes like me logo Genes that share ontologies with CLVS2: view
genes like me logo Genes that share phenotypes with CLVS2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CLVS2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLVS2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLVS2 Gene

Localization for CLVS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLVS2 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Early endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLVS2 Gene COMPARTMENTS Subcellular localization image for CLVS2 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CLVS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IDA 19651769
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CLVS2: view

Pathways & Interactions for CLVS2 Gene

genes like me logo Genes that share pathways with CLVS2: view

Interacting Proteins for CLVS2 Gene

Gene Ontology (GO) - Biological Process for CLVS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007040 lysosome organization ISS --
genes like me logo Genes that share ontologies with CLVS2: view

No data available for SIGNOR curated interactions for CLVS2 Gene

Transcripts for CLVS2 Gene

mRNA/cDNA for CLVS2 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CLVS2 Gene

Clavesin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLVS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLVS2 Gene

No ASD Table

Relevant External Links for CLVS2 Gene

GeneLoc Exon Structure for
CLVS2
ECgene alternative splicing isoforms for
CLVS2

Expression for CLVS2 Gene

mRNA expression in normal human tissues for CLVS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLVS2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x9.5), Brain - Cerebellum (x9.2), Brain - Frontal Cortex (BA9) (x4.5), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for CLVS2 Gene

This gene is overexpressed in Fetal Brain (23.5), Frontal cortex (20.1), Retina (12.2), and Prostate (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLVS2 Gene



Protein tissue co-expression partners for CLVS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLVS2 Gene:

CLVS2

SOURCE GeneReport for Unigene cluster for CLVS2 Gene:

Hs.486361
genes like me logo Genes that share expression patterns with CLVS2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CLVS2 Gene

Orthologs for CLVS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLVS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLVS2 34 35
  • 99.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLVS2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLVS2 34 35
  • 94.29 (n)
cow
(Bos Taurus)
Mammalia CLVS2 34 35
  • 93.58 (n)
oppossum
(Monodelphis domestica)
Mammalia CLVS2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clvs2 34 16 35
  • 90.72 (n)
chicken
(Gallus gallus)
Aves CLVS2 34 35
  • 86.44 (n)
lizard
(Anolis carolinensis)
Reptilia CLVS2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clvs2 34
  • 79.51 (n)
zebrafish
(Danio rerio)
Actinopterygii clvs2 34 35
  • 78.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008133 34
  • 55.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10657 35
  • 27 (a)
ManyToMany
CG33966 35
  • 25 (a)
ManyToMany
CG31636 35
  • 23 (a)
ManyToMany
CG33514 35
  • 23 (a)
ManyToMany
Cralbp 35
  • 23 (a)
ManyToMany
CG12926 35
  • 22 (a)
ManyToMany
CG1902 35
  • 21 (a)
ManyToMany
CG2663 35
  • 21 (a)
ManyToMany
CG30339 35
  • 21 (a)
ManyToMany
pinta 35
  • 20 (a)
ManyToMany
CG10300 35
  • 19 (a)
ManyToMany
CG3191 35
  • 19 (a)
ManyToMany
CG3823 35
  • 19 (a)
ManyToMany
CG10301 35
  • 18 (a)
ManyToMany
CG33965 35
  • 18 (a)
ManyToMany
CG11550 35
  • 17 (a)
ManyToMany
CG3091 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
ManyToMany
Species where no ortholog for CLVS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CLVS2 Gene

ENSEMBL:
Gene Tree for CLVS2 (if available)
TreeFam:
Gene Tree for CLVS2 (if available)

Paralogs for CLVS2 Gene

Paralogs for CLVS2 Gene

(5) SIMAP similar genes for CLVS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CLVS2: view

Variants for CLVS2 Gene

Sequence variations from dbSNP and Humsavar for CLVS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10046343 -- 123,009,551(+) TCACT(G/T)TATCA intron-variant
rs10155723 -- 123,052,376(+) GGAGA(G/T)GGGTT intron-variant
rs10214926 -- 123,044,403(+) gacgt(A/G)cctgg intron-variant
rs10665635 -- 123,016,339(+) TTTTT(-/GG/GGGG)GGGGG intron-variant
rs111250448 -- 123,034,752(+) ACAGG(C/T)TCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLVS2 Gene

Variant ID Type Subtype PubMed ID
esv2671436 CNV deletion 23128226
esv2732655 CNV deletion 23290073
esv3540403 CNV deletion 23714750
esv3610621 CNV loss 21293372
nsv474462 CNV novel sequence insertion 20440878
nsv955900 CNV deletion 24416366

Variation tolerance for CLVS2 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLVS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLVS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLVS2 Gene

Disorders for CLVS2 Gene

Relevant External Links for CLVS2

Genetic Association Database (GAD)
CLVS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLVS2

No disorders were found for CLVS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLVS2 Gene

Publications for CLVS2 Gene

  1. The clavesin family: neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology. (PMID: 19651769) Katoh Y. … McPherson P.S. (J. Biol. Chem. 2009) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  4. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for CLVS2 Gene

Sources for CLVS2 Gene

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