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CLVS2 clavesin 2 [ Homo sapiens (human) ]

Gene ID: 134829, updated on 8-Dec-2022

Summary

Official Symbol
CLVS2provided by HGNC
Official Full Name
clavesin 2provided by HGNC
Primary source
HGNC:HGNC:23046
See related
Ensembl:ENSG00000146352 MIM:616945; AllianceGenome:HGNC:23046
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
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Genomic context

See CLVS2 in Genome Data Viewer
Location:
6q22.31
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122996235..123072925)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (124184480..124261165)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123317380..123394070)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATP synthase membrane subunit g pseudogene 2 Neighboring gene uncharacterized LOC124901392 Neighboring gene triadin Neighboring gene uncharacterized LOC124901393 Neighboring gene uncharacterized LOC105377984

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

EBI GWAS Catalog

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

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
enables phosphatidylinositol bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in 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)

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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
    Q5SYC0, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047418196.1XP_047274152.1  clavesin-2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    124184480..124261165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)