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RCN2 reticulocalbin 2 [ Homo sapiens (human) ]

Gene ID: 5955, updated on 7-Apr-2024

Summary

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Official Symbol
RCN2provided by HGNC
Official Full Name
reticulocalbin 2provided by HGNC
Primary source
HGNC:HGNC:9935
See related
Ensembl:ENSG00000117906 MIM:602584; AllianceGenome:HGNC:9935
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
E6BP; ERC55; ERC-55; TCBP49
Summary
The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in testis (RPKM 51.1), brain (RPKM 32.7) and 24 other tissues See more
Orthologs
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Genomic context

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See RCN2 in Genome Data Viewer
Location:
15q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (76931749..76954393)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (74790799..74813427)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77224090..77246734)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene S-phase cyclin A associated protein in the ER Neighboring gene microRNA 3713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76991672-76992172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76992173-76992673 Neighboring gene RN7SK pseudogene 217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:77197527-77198027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77208364-77208864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77208865-77209365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6693 Neighboring gene uncharacterized LOC105370904 Neighboring gene RNA, 7SL, cytoplasmic 278, pseudogene Neighboring gene keratin 8 pseudogene 23

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RCN2 promotes Nasopharyngeal carcinoma progression by curbing Calcium flow and Mitochondrial apoptosis.
    Title: RCN2 promotes Nasopharyngeal carcinoma progression by curbing Calcium flow and Mitochondrial apoptosis.
  2. Reticulocalbin 2 as a Potential Biomarker and Therapeutic Target for Atherosclerosis.
    Title: Reticulocalbin 2 as a Potential Biomarker and Therapeutic Target for Atherosclerosis.
  3. Long non-coding RNA DUXAP8 elevates RCN2 expression and facilitates cell malignant behaviors and angiogenesis in cervical cancer via sponging miR-1297.
    Title: Long non-coding RNA DUXAP8 elevates RCN2 expression and facilitates cell malignant behaviors and angiogenesis in cervical cancer via sponging miR-1297.
  4. High expression of RCN2 is associated with vascular calcification in diabetes.
    Title: Reticulocalbin 2 enhances osteogenic differentiation of human vascular smooth muscle cells in diabetic conditions.
  5. RCN2 plays a pivotal role in hepatocellular carcinoma cell proliferation and tumor growth presumably through regulating activation of the EGFR-ERK pathway.
    Title: Reticulocalbin-2 enhances hepatocellular carcinoma proliferation via modulating the EGFR-ERK pathway.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
  7. Confirmed is the existence of several ERC-55 splicing variants including ERC-55-C localized in the cytosol in association with the cytoskeleton.
    Title: Identification and characterization of novel ERC-55 interacting proteins: evidence for the existence of several ERC-55 splicing variants; including the cytosolic ERC-55-C.
  8. RCN2 is implicated in idiopathic absence epilepsy.
    Title: Gene expression analysis in absence epilepsy using a monozygotic twin design.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with reticulocalbin 2, EF-hand calcium binding domain (RCN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
reticulocalbin-2
Names
E6-binding protein
calcium-binding protein ERC-55
reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)

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_001271837.2 → NP_001258766.1  reticulocalbin-2 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional in-frame exon in the coding region, compared to variant 1. The resulting isoform (b) is longer than isoform a.
    Source sequence(s)
    AC051643, AK313833, AV711990, BP275421, DB452318
    Consensus CDS
    CCDS61719.1
    UniProtKB/Swiss-Prot
    Q14257
    Related
    ENSP00000319739.5, ENST00000320963.9
    Conserved Domains (1) summary
    cd16224
    Location:29 → 314
    EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)

  2. NM_002902.3 → NP_002893.1  reticulocalbin-2 isoform a precursor

    See identical proteins and their annotated locations for NP_002893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is a predominant transcript and encodes isoform a.
    Source sequence(s)
    AC051643, AK313833, DB452318
    Consensus CDS
    CCDS10291.1
    UniProtKB/Swiss-Prot
    A8MTG6, F8WCY5, Q14257, Q53XN8
    Related
    ENSP00000378349.3, ENST00000394885.8
    Conserved Domains (1) summary
    cd16224
    Location:29 → 296
    EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    76931749..76954393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    74790799..74813427
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14257.1 GenPept UniProtKB/Swiss-Prot:Q14257

Gene LinkOut

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