RMP64 (ribonuclease MRP subunit p64)

Gene

• Entrez ID: 25871
• Gene name: Ribonuclease MRP subunit p64
• Gene symbol: RMP64
• Synonyms (NCBI Gene): ANXD3, C3orf17, NEPRO, NET17
• Chromosome: 3
• Chromosome location: 3q13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT442141	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT442140	hsa-miR-3614-5p	PAR-CLIP	22100165
MIRT442139	hsa-miR-4650-3p	PAR-CLIP	22100165
MIRT442138	hsa-miR-3529-5p	PAR-CLIP	22100165
MIRT442137	hsa-miR-379-5p	PAR-CLIP	22100165
MIRT442136	hsa-miR-4451	PAR-CLIP	22100165
MIRT442141	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT442140	hsa-miR-3614-5p	PAR-CLIP	22100165
MIRT442139	hsa-miR-4650-3p	PAR-CLIP	22100165
MIRT442138	hsa-miR-3529-5p	PAR-CLIP	22100165
MIRT442137	hsa-miR-379-5p	PAR-CLIP	22100165
MIRT442136	hsa-miR-4451	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IBA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS

Other IDs

• MIM: 617089
• HGNC: 24496
• e!Ensembl: ENSG00000163608

Protein

• UniProt ID: Q6NW34
• Protein name: Nucleolus and neural progenitor protein
• Protein function: May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14780	DUF4477	12 → 202	Domain of unknown function (DUF4477)	Family

• Sequence:

  MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAALDLCIAAVIKECHLVILSLKSQTLDA
  ETDVLCAVLYSNHNRMGRHKPHLALKQVEQCLKRLKNMNLEGSIQDLFELFSSNENQPLT
  TKVCVVPSQPVVELVLMKVLGACKLLLRLLDCCCKTFLLTVKHLGLQEFIILNLVMVGLV
  SRLWVLYKGVLKRLILLYEPLFGLLQEVARIQPMPYFKDFTFPSDITEFLGQPYFEAFKK
  KMPIAFAAKGINKLLNKLFLINEQSPRASEETLLGISKKAKQMKINVQNNVDLGQPVKNK
  RVFKEESSEFDVRAFCNQLKHKATQETSFDFKCSQSRLKTTKYSSQKVIGTPHAKSFVQR
  FREAESFTQLSEEIQMAVVWCRSKKLKAQAIFLGNKLLKSNRLKHLEAQGTSLPKKLECI
  KTSICNHLLRGSGIKTSKHHLRQRRSQNKFLRRQRKPQRKLQSTLLREIQQFSQGTRKSA
  TDTSAKWRLSHCTVHRTDLYPNSKQLLNSGVSMPVIQTKEKMIHENLRGIHENETDSWTV
  MQINKNSTSGTIKETDDIDDIFALMGV

• Sequence length: 567

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anauxetic dysplasia 3	Pathogenic	rs769447751	RCV001089594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cerebral white matter morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAUXETIC DYSPLASIA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPRO-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RMP64-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anauxetic dysplasia	Anauxetic Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	29620724		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29620724		★☆☆☆☆ Found in Text Mining only