CLVS2 clavesin 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 6q22.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (122996235..123072925)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (124184248..124261165)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (123317380..123394070)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clavesin protein family appears to provide a unique neuron-specific regulation of late endosome/lysosome morphology.
Title: The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-1299 (e-PCR)
- UniSTS:42369

G19602 (e-PCR)
- UniSTS:50398

AFM342xc1 (e-PCR)
- UniSTS:12531

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_001010852.4 → NP_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

B3KTG5, B4DHL0, C8UZT4, Q5SYC0, Q5SYC1

Related

ENSP00000275162.4, ENST00000275162.10

Conserved Domains (2) summary

smart01100
Location:29 → 75

CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

cd00170
Location:106 → 251

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 ...