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Aliases for CLVS2 Gene

Aliases for CLVS2 Gene

  • Clavesin 2 2 3 5
  • 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

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

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

No data available for Regulatory Elements 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

Proteomics data for CLVS2 Gene at MOPED

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).
genes like me logo Genes that share phenotypes with CLVS2: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0005768 endosome IDA 19651769
GO:0032588 trans-Golgi network membrane TAS --
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:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with CLVS2: view

No data available for SIGNOR curated interactions for CLVS2 Gene

Drugs & Compounds for CLVS2 Gene

No Compound Related Data Available

Transcripts for CLVS2 Gene

mRNA/cDNA for CLVS2 Gene

(1) 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

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



SOURCE GeneReport for Unigene cluster for CLVS2 Gene Hs.486361

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

Protein tissue co-expression partners for CLVS2 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CLVS2 35
  • 93.58 (n)
  • 99.69 (a)
CLVS2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLVS2 35
  • 94.29 (n)
  • 100 (a)
CLVS2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clvs2 35
  • 90.72 (n)
  • 97.86 (a)
Clvs2 16
Clvs2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLVS2 35
  • 99.8 (n)
  • 100 (a)
CLVS2 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLVS2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLVS2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLVS2 35
  • 86.44 (n)
  • 97.25 (a)
CLVS2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLVS2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clvs2 35
  • 79.51 (n)
  • 95.41 (a)
zebrafish
(Danio rerio)
Actinopterygii clvs2 35
  • 78.7 (n)
  • 89.3 (a)
clvs2 36
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008133 35
  • 55.66 (n)
  • 53.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10300 36
  • 19 (a)
ManyToMany
CG10301 36
  • 18 (a)
ManyToMany
CG10657 36
  • 27 (a)
ManyToMany
CG11550 36
  • 17 (a)
ManyToMany
CG12926 36
  • 22 (a)
ManyToMany
CG1902 36
  • 21 (a)
ManyToMany
CG2663 36
  • 21 (a)
ManyToMany
CG30339 36
  • 21 (a)
ManyToMany
CG3091 36
  • 17 (a)
ManyToMany
CG31636 36
  • 23 (a)
ManyToMany
CG3191 36
  • 19 (a)
ManyToMany
CG33514 36
  • 23 (a)
ManyToMany
CG33965 36
  • 18 (a)
ManyToMany
CG33966 36
  • 25 (a)
ManyToMany
CG3823 36
  • 19 (a)
ManyToMany
Cralbp 36
  • 23 (a)
ManyToMany
pinta 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
Species with no ortholog for CLVS2:
  • 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
rs4255003 -- 123,033,561(+) aaaat(G/T)aattc intron-variant
rs4266510 -- 123,012,485(+) TTTTT(C/T)TTTCC intron-variant
rs4397245 -- 123,068,488(+) AAATT(A/G)CAATG utr-variant-3-prime
rs4280987 -- 123,014,320(+) cagca(C/T)ctgtt intron-variant
rs4401679 -- 123,060,417(+) CACTT(C/G)TGATT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2732655 CNV Deletion 23290073
esv2671436 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
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 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for CLVS2 Gene

Sources for CLVS2 Gene

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