NRDE2 (NRDE-2, necessary for RNA interference, domain containing)

Gene

• Entrez ID: 55051
• Gene name: NRDE-2, necessary for RNA interference, domain containing
• Gene symbol: NRDE2
• Synonyms (NCBI Gene): C14orf102
• Chromosome: 14
• Chromosome location: 14q32.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048282	hsa-miR-196a-5p	CLASH	23622248
MIRT045459	hsa-miR-149-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IMP	30538148
GO:0005515	Function	Protein binding	IPI	29902117, 30538148, 30842217, 32296183
GO:0005634	Component	Nucleus	IDA	29902117
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	30538148, 30842217
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA	30842217
GO:0005730	Component	Nucleolus	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	29902117
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IMP	30538148
GO:0016607	Component	Nuclear speck	IDA	30538148, 30842217
GO:0016607	Component	Nuclear speck	IEA
GO:0031048	Process	Regulatory ncRNA-mediated heterochromatin formation	IBA
GO:0046833	Process	Positive regulation of RNA export from nucleus	IMP	30842217
GO:0048255	Process	MRNA stabilization	IMP	30842217
GO:0051301	Process	Cell division	IEA
GO:1902369	Process	Negative regulation of RNA catabolic process	IBA

Other IDs

• MIM: 618631
• HGNC: 20186
• e!Ensembl: ENSG00000119720

Protein

• UniProt ID: Q9H7Z3
• Protein name: Nuclear exosome regulator NRDE2 (Protein NRDE2 homolog)
• Protein function: Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation (PubMed:30842217). Changes the conformation of MTREX
• PDB: 6IEH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08424	NRDE-2	309 → 649	NRDE-2, necessary for RNA interference	Family

• Sequence:

  MALFPAFAGLSEAPDGGSSRKELDWLSNPSFCVGSITSLSQQTEAAPAHVSEGLPLTRSH
  LKSESSDESDTNKKLKQTSRKKKKEKKKKRKHQHHKKTKRKHGPSSSSRSETDTDSEKDK
  PSRGVGGSKKESEEPNQGNNAAADTGHRFVWLEDIQAVTGETFRTDKKPDPANWEYKSLY
  RGDIARYKRKGDSCLGINPKKQCISWEGTSTEKKHSRKQVERYFTKKSVGLMNIDGVAIS
  SKTEPPSSEPISFIPVKDLEDAAPVTTWLNPLGIYDQSTTHWLQGQGPPEQESKQPDAQP
  DSESAALKAKVEEFNRRVRENPRDTQLWMAFVAFQDEVMKSPGLYAIEEGEQEKRKRSLK
  LILEKKLAILERAIESNQSSVDLKLAKLKLCTEFWEPSTLVKEWQKLIFLHPNNTALWQK
  YLLFCQSQFSTFSISKIHSLYGKCLSTLSAVKDGSILSHPALPGTEEAMFALFLQQCHFL
  RQAGHSEKAISLFQAMVDFTFFKPDSVKDLPTKGQVEFFEPFWDSGEPRAGEKGARGWKA
  WMHQQERGGWVVINPDEDDDEPEEDDQEIKDKTLPRWQIWLAAERSRDQRHWRPWRPDKT
  KKQTEEDCEDPERQVLFDDIGQSLIRLSSHDLQFQLVEAFLQFLGVPSGFTPPASCLYLA
  MDENSIFDNGLYDEKPLTFFNPLFSGASCVGRMDRLGYPRWTRGQNREGEEFIRNVFHLV
  MPLFSGKEKSQLCFSWLQYEIAKVIWCLHTKNKKRLKSQGKNCKKLAKNLLKEPENCNNF
  CLWKQYAHLEWLLGNTEDARKVFDTALGMAGSRELKDSDLCELSLLYAELEVELSPEVRR
  AATARAVHILTKLTESSPYGPYTGQVLAVHILKARKAYEHALQDCLGDSCVSNPAPTDSC
  SRLISLAKCFMLFQYLTIGIDAAVQIYEQVFAKLNSSVFPEGSGEGDSASSQSWTSVLEA
  ITLMHTSLLRFHMKVSVYPLAPLREALSQALKLYPGNQVLWRSYVQIQNKSHSASKTRRF
  FDTITRSAKPLEPWLFAIEAEKLRKRLVETVQRLDGREIHATIPETGLMHRIQALFENAM
  RSDSGSQCPLLWRMYLNFLVSLGNKERSKGVFYKALQNCPWAKVLYLDAVEYFPDEMQEI
  LDLMTEKELRVRLPLEELELLLED

• Sequence length: 1164

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIRK-AHARONI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations