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ICE2 interactor of little elongation complex ELL subunit 2 [ Homo sapiens (human) ]

Gene ID: 79664, updated on 13-Mar-2020

Summary

Official Symbol
ICE2provided by HGNC
Official Full Name
interactor of little elongation complex ELL subunit 2provided by HGNC
Primary source
HGNC:HGNC:29885
See related
Ensembl:ENSG00000128915 MIM:610835
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
BRCC1; NARG2
Summary
This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in thyroid (RPKM 5.8), ovary (RPKM 4.5) and 25 other tissues See more
Orthologs

Genomic context

See ICE2 in Genome Data Viewer
Location:
15q22.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (60419609..60479142, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (60711808..60771359, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 44 Neighboring gene annexin A2 Neighboring gene ribosomal protein S10 pseudogene 22 Neighboring gene RORA antisense RNA 1 Neighboring gene RAR related orphan receptor A Neighboring gene CYCS pseudogene 38 Neighboring gene uncharacterized LOC105370846

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase III IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase III IMP
Inferred from Mutant Phenotype
more info
PubMed 
snRNA transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
snRNA transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
snRNA transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
snRNA transcription by RNA polymerase III IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
snRNA transcription by RNA polymerase III IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
histone locus body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription elongation factor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcriptionally active chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
little elongation complex subunit 2
Names
NMDA receptor regulated 2
NMDA receptor-regulated gene 2
NMDA receptor-regulated protein 2
breast cancer cell 1
interactor of little elongator complex ELL subunit 2

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.

Genomic

  1. NG_054881.1 RefSeqGene

    Range
    5019..64552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018089.3NP_001018099.1  little elongation complex subunit 2 isoform b

    See identical proteins and their annotated locations for NP_001018099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC087385, BU738348, BX647873, CN342776
    UniProtKB/Swiss-Prot
    Q659A1
    Conserved Domains (1) summary
    pfam10505
    Location:585793
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  2. NM_001276385.2NP_001263314.1  little elongation complex subunit 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but includes an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) is significantly shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC087385, BC151844, CN342776
    Consensus CDS
    CCDS61657.1
    UniProtKB/TrEMBL
    H0YNU9
    Related
    ENSP00000454162.1, ENST00000561114.5
  3. NM_024611.6NP_078887.2  little elongation complex subunit 2 isoform a

    See identical proteins and their annotated locations for NP_078887.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC087385, BC140894, BU738348, CN342776
    Consensus CDS
    CCDS10176.1
    UniProtKB/Swiss-Prot
    Q659A1
    UniProtKB/TrEMBL
    A0A024R5V9
    Related
    ENSP00000261520.4, ENST00000261520.9
    Conserved Domains (1) summary
    pfam10505
    Location:722930
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus

RNA

  1. NR_147171.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC087385, BU738348
    Related
    ENST00000558181.5

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
    60419609..60479142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450051.1XP_024305819.1  little elongation complex subunit 2 isoform X2

    Conserved Domains (1) summary
    pfam10505
    Location:585793
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  2. XM_011522010.2XP_011520312.1  little elongation complex subunit 2 isoform X2

    See identical proteins and their annotated locations for XP_011520312.1

    Conserved Domains (1) summary
    pfam10505
    Location:585793
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  3. XM_005254662.2XP_005254719.1  little elongation complex subunit 2 isoform X2

    See identical proteins and their annotated locations for XP_005254719.1

    Conserved Domains (1) summary
    pfam10505
    Location:585793
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  4. XM_011522011.2XP_011520313.1  little elongation complex subunit 2 isoform X2

    See identical proteins and their annotated locations for XP_011520313.1

    Conserved Domains (1) summary
    pfam10505
    Location:585793
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  5. XM_011522009.2XP_011520311.1  little elongation complex subunit 2 isoform X1

    See identical proteins and their annotated locations for XP_011520311.1

    UniProtKB/Swiss-Prot
    Q659A1
    UniProtKB/TrEMBL
    A0A024R5V9
    Conserved Domains (1) summary
    pfam10505
    Location:722930
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  6. XM_017022569.2XP_016878058.1  little elongation complex subunit 2 isoform X1

    UniProtKB/Swiss-Prot
    Q659A1
    UniProtKB/TrEMBL
    A0A024R5V9
    Conserved Domains (1) summary
    pfam10505
    Location:722930
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus
  7. XM_005254661.2XP_005254718.1  little elongation complex subunit 2 isoform X1

    See identical proteins and their annotated locations for XP_005254718.1

    UniProtKB/Swiss-Prot
    Q659A1
    UniProtKB/TrEMBL
    A0A024R5V9
    Conserved Domains (1) summary
    pfam10505
    Location:722930
    NARG2_C; NMDA receptor-regulated gene protein 2 C-terminus

RNA

  1. XR_931902.3 RNA Sequence

  2. XR_001751386.2 RNA Sequence

  3. XR_931903.3 RNA Sequence

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