Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5822
Gene name	PWP2 small subunit processome component
Gene symbol	PWP2
Synonyms (NCBI Gene)	EHOC-17PWP2HUTP1
Chromosome	21
Chromosome location	21q22.3

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025543	hsa-miR-34a-5p	Proteomics	21566225
MIRT049529	hsa-miR-92a-3p	CLASH	23622248
MIRT047296	hsa-miR-181b-5p	CLASH	23622248
MIRT043708	hsa-miR-342-3p	CLASH	23622248
MIRT037820	hsa-miR-455-3p	CLASH	23622248
MIRT1278676	hsa-miR-1264	CLIP-seq
MIRT1278677	hsa-miR-4772-3p	CLIP-seq
MIRT1278677	hsa-miR-4772-3p	CLIP-seq
MIRT1278677	hsa-miR-4772-3p	CLIP-seq
MIRT2307796	hsa-miR-1207-5p	CLIP-seq
MIRT2307797	hsa-miR-1343	CLIP-seq
MIRT2307798	hsa-miR-1825	CLIP-seq
MIRT2307799	hsa-miR-4287	CLIP-seq
MIRT2307800	hsa-miR-4292	CLIP-seq
MIRT2307801	hsa-miR-4308	CLIP-seq
MIRT2307802	hsa-miR-4469	CLIP-seq
MIRT2307803	hsa-miR-4640-5p	CLIP-seq
MIRT2307804	hsa-miR-4685-3p	CLIP-seq
MIRT2307805	hsa-miR-4726-5p	CLIP-seq
MIRT2307806	hsa-miR-4736	CLIP-seq
MIRT2307807	hsa-miR-4763-3p	CLIP-seq
MIRT2307808	hsa-miR-764	CLIP-seq
MIRT1278677	hsa-miR-4772-3p	CLIP-seq
MIRT2439751	hsa-miR-1305	CLIP-seq
MIRT2439752	hsa-miR-139-3p	CLIP-seq
MIRT2439753	hsa-miR-181a	CLIP-seq
MIRT2439754	hsa-miR-181b	CLIP-seq
MIRT2439755	hsa-miR-181c	CLIP-seq
MIRT2439756	hsa-miR-181d	CLIP-seq
MIRT2439757	hsa-miR-421	CLIP-seq
MIRT2439758	hsa-miR-4262	CLIP-seq
MIRT2439759	hsa-miR-543	CLIP-seq
MIRT2605085	hsa-miR-1207-3p	CLIP-seq
MIRT2605086	hsa-miR-144	CLIP-seq
MIRT2605087	hsa-miR-2117	CLIP-seq
MIRT2605088	hsa-miR-326	CLIP-seq
MIRT2605089	hsa-miR-330-5p	CLIP-seq
MIRT2605090	hsa-miR-378	CLIP-seq
MIRT2605091	hsa-miR-378b	CLIP-seq
MIRT2605092	hsa-miR-378c	CLIP-seq
MIRT2605093	hsa-miR-378d	CLIP-seq
MIRT2605094	hsa-miR-378e	CLIP-seq
MIRT2605095	hsa-miR-378f	CLIP-seq
MIRT2605096	hsa-miR-378h	CLIP-seq
MIRT2605097	hsa-miR-378i	CLIP-seq
MIRT2605098	hsa-miR-422a	CLIP-seq
MIRT2605099	hsa-miR-4273	CLIP-seq
MIRT2605100	hsa-miR-4638-3p	CLIP-seq
MIRT2605101	hsa-miR-4645-3p	CLIP-seq
MIRT2605102	hsa-miR-542-3p	CLIP-seq
MIRT2605103	hsa-miR-711	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000028	Process	Ribosomal small subunit assembly	IBA
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0032040	Component	Small-subunit processome	IBA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0034388	Component	Pwp2p-containing subcomplex of 90S preribosome	IBA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797

MIM	HGNC	e!Ensembl
601475	9711	ENSG00000241945

Q15269

Protein name

Periodic tryptophan protein 2 homolog

Protein function

Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat

PDB

7MQ8 , 7MQ9 , 7MQA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	362 → 401	WD domain, G-beta repeat	Repeat
PF00400	WD40	405 → 443	WD domain, G-beta repeat	Repeat
PF00400	WD40	491 → 529	WD domain, G-beta repeat	Repeat
PF04003	Utp12	770 → 875	Dip2/Utp12 Family	Family

Sequence

MKFAYRFSNLLGTVYRRGNLNFTCDGNSVISPVGNRVTVFDLKNNKSDTLPLATRYNVKC
VGLSPDGRLAIIVDEGGDALLVSLVCRSVLHHFHFKGSVHSVSFSPDGRKFVVTKGNIAQ
MYHAPGKKREFNAFVLDKTYFGPYDETTCIDWTDDSRCFVVGSKDMSTWVFGAERWDNLI
YYALGGHKDAIVACFFESNSLDLYSLSQDGVLCMWQCDTPPEGLRLKPPAGWKADLLQRE
EEEEEEEDQEGDRETTIRGKATPAEEEKTGKVKYSRLAKYFFNKEGDFNNLTAAAFHKKS
HLLVTGFASGIFHLHELPEFNLIHSLSISDQSIASVAINSSGDWIAFGCSGLGQLLVWEW
QSESYVLKQQGHFNSMVALAYSPDGQYIVTGGDDGKVKVWNTLSGFCFVTFTEHSSGVTG
VTFTATGYVVVTSSMDGTVRAFDLHRYRNFRTFTSPRPTQFSCVAVDASGEIVSAGAQDS
FEIFVWSMQTGRLLDVLSGHEGPISGLCFNPMKSVLASASWDKTVRLWDMFDSWRTKETL
ALTSDALAVTFRPDGAELAVATLNSQITFWDPENAVQTGSIEGRHDLKTGRKELDKITAK
HAAKGKAFTALCYSADGHSILAGGMSKFVCIYHVREQILMKRFEISCNLSLDAMEEFLNR
RKMTEFGNLALIDQDAGQEDGVAIPLPGVRKGDMSSRHFKPEIRVTSLRFSPTGRCWAAT
TTEGLLIYSLDTRVLFDPFELDTSVTPGRVREALRQQDFTRAILMALRLNESKLVQEALE
AVPRGEIEVVTSSLPELYVEKVLEFLASSFEVSRHLEFYLLWTHKLLMLHGQKLKSRAGT
LLPVIQFLQKSIQRHLDDLSKLCSWNHYNMQYALAVSKQRGTKRSLDPLGSEEEAEASED
DSLHLLGGGGRDSEEEMLA

Sequence length

919

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Major pathway of rRNA processing in the nucleolus and cytosol

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	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.
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Developmental Disabilities	Associate	37501076	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	37501076	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	34413861	★★★★★ ★☆☆☆☆ Found in Text Mining only

PWP2 (PWP2 small subunit processome component)