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RCN2 reticulocalbin 2 [ Homo sapiens (human) ]

Gene ID: 5955, updated on 5-Jul-2020

Summary

Official Symbol
RCN2provided by HGNC
Official Full Name
reticulocalbin 2provided by HGNC
Primary source
HGNC:HGNC:9935
See related
Ensembl:ENSG00000117906 MIM:602584
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

Genomic context

See RCN2 in Genome Data Viewer
Location:
15q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (76931749..76954393)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77223962..77242601)

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 RN7SK pseudogene 217 Neighboring gene uncharacterized LOC105370904 Neighboring gene RNA, 7SL, cytoplasmic 278, pseudogene Neighboring gene keratin 8 pseudogene 23

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001271837.2NP_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:29314
    EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)
  2. NM_002902.3NP_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
    Q14257
    Related
    ENSP00000378349.3, ENST00000394885.8
    Conserved Domains (1) summary
    cd16224
    Location:29296
    EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000015.10 Reference GRCh38.p13 Primary Assembly

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