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CLVS2 clavesin 2 [ Homo sapiens (human) ]

Gene ID: 134829, updated on 15-Jun-2019

Summary

Official Symbol
CLVS2provided by HGNC
Official Full Name
clavesin 2provided by HGNC
Primary source
HGNC:HGNC:23046
See related
Ensembl:ENSG00000146352 MIM:616945
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
RLBP1L2; C6orf212; C6orf213; bA160A10.4
Summary
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]
Expression
Biased expression in brain (RPKM 3.1), prostate (RPKM 0.6) and 1 other tissue See more
Orthologs

Genomic context

See CLVS2 in Genome Data Viewer
Location:
6q22.31
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (122995971..123072920)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123317582..123385063)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sphingomyelin phosphodiesterase acid like 3A Neighboring gene ATP synthase membrane subunit g pseudogene 2 Neighboring gene uncharacterized LOC105377984 Neighboring gene triadin Neighboring gene TRDN antisense RNA 1

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
NHGRI GWA Catalog

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120572

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
clavesin-2
Names
clathrin vesicle-associated Sec14 protein 2
retinaldehyde binding protein 1-like 2

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.

mRNA and Protein(s)

  1. NM_001010852.4NP_001010852.2  clavesin-2

    See identical proteins and their annotated locations for NP_001010852.2

    Status: REVIEWED

    Source sequence(s)
    AK095527, AK295158, AL591428, BM684470
    Consensus CDS
    CCDS34525.1
    UniProtKB/Swiss-Prot
    Q5SYC1
    Related
    ENSP00000275162.4, ENST00000275162.10
    Conserved Domains (2) summary
    smart01100
    Location:2975
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    cd00170
    Location:106251
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

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.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    122996235..123072925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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