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RCN2 reticulocalbin 2 [ Homo sapiens (human) ]

Gene ID: 5955, updated on 26-May-2016
Official Symbol
RCN2provided by HGNC
Official Full Name
reticulocalbin 2provided by HGNC
Primary source
HGNC:HGNC:9935
See related
Ensembl:ENSG00000117906 HPRD:03993; 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]
Orthologs
Location:
15q23
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (76931621..76950260)
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 transfer RNA-Lys (CTT) 16-1 Neighboring gene S-phase cyclin A associated protein in the ER Neighboring gene microRNA 3713 Neighboring gene uncharacterized LOC105370904 Neighboring gene keratin 8 pseudogene 23 Neighboring gene proline-serine-threonine phosphatase interacting protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
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
 
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)

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_001271837.1NP_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, OTTHUMP00000184902, ENST00000320963, OTTHUMT00000289796
    Conserved Domains (2) summary
    pfam13499
    Location:257308
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:65121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. NM_002902.2NP_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, OTTHUMP00000184901, ENST00000394885, OTTHUMT00000289795
    Conserved Domains (2) summary
    pfam13499
    Location:239290
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:65121
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    76931621..76950260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    77342151..77360793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)