Gene Gene information from NCBI Gene database.
Entrez ID 79664
Gene name Interactor of little elongation complex ELL subunit 2
Gene symbol ICE2
Synonyms (NCBI Gene)
BRCC1NARG2
Chromosome 15
Chromosome location 15q22.2
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
miRNA miRNA information provided by mirtarbase database.
107
miRTarBase ID miRNA Experiments Reference
MIRT741731 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT741732 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT741733 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT741734 hsa-miR-548am-3p HITS-CLIP 23824327
MIRT741735 hsa-miR-548aq-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000791 Component Euchromatin IDA 22195968, 23932780
GO:0005515 Function Protein binding IPI 21729782, 22195968, 23932780
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610835 29885 ENSG00000128915
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q659A1
Protein name Little elongation complex subunit 2 (Interactor of little elongator complex ELL subunit 2) (NMDA receptor-regulated protein 2)
Protein function Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10505 NARG2_C 720 930 NMDA receptor-regulated gene protein 2 C-terminus Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in lung and testis. {ECO:0000269|PubMed:15606750}.
Sequence
MSSKMVISEPGLNWDISPKNGLKTFFSRENYKDHSMAPSLKELRVLSNRRIGENLNASAS
SVENEPAVSSATQAKEKVKTTIGMVLLPKPRVPYPRFSRFSQREQRSYVDLLVKYAKIPA
NSKAVGINKNDYLQYLDMKKHVNEEVTEFLKFLQNSAKKCAQDYNMLSDDARLFTEKILR
ACIEQVKKYSEFYTLHEVTSLMGFFPFRVEMGLKLEKTLLALGSVKYVKTVFPSMPIKLQ
LSKDDIATIETSEQTAEAMHYDISKDPNAEKLVSRYHPQIALTSQSLFTLLNNHGPTYKE
QWEIPVCIQVIPVAGSKPVKVIYINSPLPQKKMTMRERNQIFHEVPLKFMMSKNTSVPVS
AVFMDKPEEFISEMDMSCEVNECRKIESLENLYLDFDDDVTELETFGVTTTKVSKSPSPA
STSTVPNMTDAPTAPKAGTTTVAPSAPDISANSRSLSQILMEQLQKEKQLVTGMDGGPEE
CKNKDDQGFESCEKVSNSDKPLIQDSDLKTSDALQLENSQEIETSNKNDMTIDILHADGE
RPNVLENLDNSKEKTVGSEAAKTEDTVLCSSDTDEECLIIDTECKNNSDGKTAVVGSNLS
SRPASPNSSSGQASVGNQTNTACSPEESCVLKKPIKRVYKKFDPVGEILKMQDELLKPIS
RKVPELPLMNLENSKQPSVSEQLSGPSDSSSWPKSGWPSAFQKPKGRLPYELQDYVEDTS
EYLAPQEGNFVYKLFSLQDLLLLVRCSVQRIETRPRSKKRKKIRRQFPVYVLPKVEYQAC
YGVEALTESELCRLWTESLLHSNSSFYVGHIDAFTSKLFLLEEITSEELKEKLSALKISN
LFNILQHILKKLSSLQEGSYLLSHAAEDSSLLIYKASDGKVTRTAYNLYKTHCGLPGVPS
SLSVPWVPLDPSLLLPYHIHHGRIPCTFPP
KSLDTTTQQKIGGTRMPTRSHRNPVSMETK
SSCLPAQQVETEGVAPHKRKIT
Sequence length 982
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RNA polymerase II transcribes snRNA genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ICE2-related disorder Uncertain significance; Likely benign rs745899002, rs2505763780, rs151196206, rs199727296, rs375280679, rs199560072, rs2063906754, rs766076147, rs368391917, rs143271506, rs2505763455 RCV003419166
RCV003397681
RCV003980892
RCV003981370
RCV003933991
RCV003942117
RCV003939429
RCV003949273
RCV003947075
RCV003959103
RCV003969477
NARG2-related Intellectual disability Uncertain significance rs2063909740, rs999661043 RCV004799291
RCV004799292