Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	25871
Gene name	Ribonuclease MRP subunit p64
Gene symbol	RMP64
Synonyms (NCBI Gene)	ANXD3C3orf17NEPRONET17
Chromosome	3
Chromosome location	3q13.2

12 Show/Hide all (12)

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

10 Show/Hide all (10)

GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
617089	24496	ENSG00000163608

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

Interactions

View interactions

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (13)
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	31250547, 31250547	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

RMP64 (ribonuclease MRP subunit p64)

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