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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25886
Gene name Gene Name - the full gene name approved by the HGNC.	POC1 centriolar protein A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POC1A
Synonyms (NCBI Gene) Gene synonyms aliases	PIX2, SOFT, WDR51A
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SOFT
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.2
Summary Summary of gene provided in NCBI Entrez Gene.	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112213336	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397514487	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514488	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs772586602	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs866964603	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs918352190	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT724035	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT724034	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT724033	hsa-miR-663b	HITS-CLIP	19536157
MIRT724032	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT680310	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT680309	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT680308	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT680307	hsa-miR-5095	HITS-CLIP	23824327
MIRT680306	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT680305	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT677360	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT677359	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT677355	hsa-miR-1281	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677348	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT677347	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT677361	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT677360	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT677359	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT677355	hsa-miR-1281	HITS-CLIP	23824327
MIRT677354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT677353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT677352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT677351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677350	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT677349	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT677348	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT677347	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677346	hsa-miR-4284	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT677341	hsa-miR-7641	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT459965	hsa-miR-10a-5p	PAR-CLIP	23592263
MIRT459964	hsa-miR-10b-5p	PAR-CLIP	23592263
MIRT459963	hsa-miR-2278	PAR-CLIP	23592263
MIRT459962	hsa-miR-2392	PAR-CLIP	23592263
MIRT459961	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT459960	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT459959	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT459958	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT459957	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT459956	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT459955	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT459954	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT459952	hsa-miR-4468	PAR-CLIP	23592263
MIRT459953	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT459951	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT459950	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT459949	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT459948	hsa-miR-1193	PAR-CLIP	23592263
MIRT459947	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT459946	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT459945	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT459944	hsa-miR-5698	PAR-CLIP	23592263
MIRT459943	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT459941	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT459942	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT724035	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT724034	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT724033	hsa-miR-663b	HITS-CLIP	19536157
MIRT724032	hsa-miR-7108-5p	HITS-CLIP	19536157
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT680310	hsa-miR-6504-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT680309	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT680308	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT680307	hsa-miR-5095	HITS-CLIP	23824327
MIRT680306	hsa-miR-7151-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT680305	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT677360	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT677359	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT677355	hsa-miR-1281	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677348	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT677347	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT677361	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT677360	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT677359	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT677358	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT677357	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT677356	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT677355	hsa-miR-1281	HITS-CLIP	23824327
MIRT677354	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT677353	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT677352	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT677351	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT677350	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT677349	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT677348	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT677347	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677346	hsa-miR-4284	HITS-CLIP	23824327
MIRT677345	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT677344	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT677343	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT677342	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT677341	hsa-miR-7641	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT666923	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT666922	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT666921	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT666920	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT666919	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT666918	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT666917	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666916	hsa-miR-1976	HITS-CLIP	23824327
MIRT666915	hsa-miR-4682	HITS-CLIP	23824327
MIRT666914	hsa-miR-4279	HITS-CLIP	23824327
MIRT666913	hsa-miR-4303	HITS-CLIP	23824327
MIRT666912	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT666911	hsa-miR-498	HITS-CLIP	23824327
MIRT459965	hsa-miR-10a-5p	PAR-CLIP	23592263
MIRT459964	hsa-miR-10b-5p	PAR-CLIP	23592263
MIRT459963	hsa-miR-2278	PAR-CLIP	23592263
MIRT459962	hsa-miR-2392	PAR-CLIP	23592263
MIRT459961	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT459960	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT459959	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT459958	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT459957	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT459956	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT459955	hsa-miR-196b-3p	PAR-CLIP	23592263
MIRT459954	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT459952	hsa-miR-4468	PAR-CLIP	23592263
MIRT459953	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT459951	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT459950	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT459949	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT459948	hsa-miR-1193	PAR-CLIP	23592263
MIRT459947	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT459946	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT459945	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT459944	hsa-miR-5698	PAR-CLIP	23592263
MIRT459943	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT459941	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT459942	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT1246119	hsa-miR-4496	CLIP-seq
MIRT1246120	hsa-miR-4676-5p	CLIP-seq
MIRT1246121	hsa-miR-4704-3p	CLIP-seq
MIRT1246122	hsa-miR-4717-3p	CLIP-seq
MIRT1246123	hsa-miR-575	CLIP-seq
MIRT2072729	hsa-miR-1246	CLIP-seq
MIRT2072730	hsa-miR-3925-3p	CLIP-seq
MIRT2072731	hsa-miR-4685-5p	CLIP-seq
MIRT2072732	hsa-miR-4712-5p	CLIP-seq
MIRT2072733	hsa-miR-4764-5p	CLIP-seq
MIRT2072734	hsa-miR-770-5p	CLIP-seq
MIRT2299931	hsa-miR-149	CLIP-seq
MIRT2456805	hsa-miR-1303	CLIP-seq
MIRT2456806	hsa-miR-3123	CLIP-seq
MIRT2456807	hsa-miR-3925-5p	CLIP-seq
MIRT2456808	hsa-miR-4707-5p	CLIP-seq

Show/Hide all(7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	23015594
GO:0005515	Function	Protein binding	IPI	23015594, 25036637, 26638075, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005814	Component	Centriole	IDA	20008567, 23015594
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA	20008567

MIM	HGNC	e!Ensembl
614783	24488	ENSG00000164087

Protein

UniProt ID

Q8NBT0

Protein name

POC1 centriolar protein homolog A (Pix2) (Proteome of centriole protein 1A) (WD repeat-containing protein 51A)

Protein function

Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	9 → 47	WD domain, G-beta repeat	Repeat
PF00400	WD40	51 → 89	WD domain, G-beta repeat	Repeat
PF00400	WD40	94 → 130	WD domain, G-beta repeat	Repeat
PF00400	WD40	135 → 173	WD domain, G-beta repeat	Repeat
PF00400	WD40	177 → 215	WD domain, G-beta repeat	Repeat
PF00400	WD40	261 → 299	WD domain, G-beta repeat	Repeat

Sequence

MAAPCAEDPSLERHFKGHRDAVTCVDFSINTKQLASGSMDSCLMVWHMKPQSRAYRFTGH
KDAVTCVNFSPSGHLLASGSRDKTVRIWVPNVKGESTVFRAHTATVRSVHFCSDGQSFVT
ASDDKTVKVWATHRQKFLFSLSQHINWVRCAKFSPDGRLIVSASDDKTVKLWDKSSRECV
HSYCEHGGFVTYVDFHPSGTCIAAAGMDNTVKVWDVRTHRLLQHYQLHSAAVNGLSFHPS
GNYLITASSDSTLKILDLMEGRLLYTLHGHQGPATTVAFSRTGEYFASGGSDEQVMVWKS
NFDIVDHGEVTKVPRPPATLASSMGNLPEVDFPVPPGRGRSVESVQSQPQEPVSVPQTLT
STLEHIVGQLDVLTQTVSILEQRLTLTEDKLKQCLENQQLIMQRATP

Sequence length

407

Interactions

View interactions

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Fanconi anemia	FANCONI ANEMIA, COMPLEMENTATION GROUP Q	rs121918164, rs118203997, rs118203998, rs118203999, rs397507552, rs778507965, rs747851434, rs587776570, rs121907930, rs794726660, rs137852986, rs730880277, rs730880278, rs104894221, rs587778340 View all (653 more)	22440536
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Microcephaly	Microcephaly, Primary microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)	26791357
Oligospermia	Oligospermia	rs1602125411, rs377712900
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	rs397514487, rs397514488, rs918352190	22840364, 22440536, 26336158, 22840363, 26791357

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	GenCC
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining
Alcohol Related Disorders	Associate	34419044
Alopecia	Associate	28819016
Cholangiocarcinoma	Associate	33725402
Ciliopathies	Associate	22840364
Congenital Abnormalities	Associate	22840364
Dyslipidemias	Associate	28819016
Facial Dysmorphism with Multiple Malformations	Associate	22840363, 26336158, 28819016
Fatty Liver	Associate	26336158
Growth Disorders	Associate	22840363, 26336158, 28819016, 35234134
HEM dysplasia	Associate	26336158
Hirsutism	Associate	28819016
Hypotrichosis	Associate	22840363, 28819016
Insulin Resistance	Associate	26336158, 28819016, 35234134
Microcephaly	Associate	35234134
Muscle Cramp	Associate	35234134
Nail dysplasia isolated congenital	Associate	22840363, 28819016
Neoplasms	Associate	31067633
Neoplasms Adipose Tissue	Associate	26336158
Pituitary dwarfism 1	Associate	22840364, 26336158
Short Stature Facial Dysmorphism Severe Brachydactyly and Syndactyly	Associate	33955509
Syndrome	Associate	28819016, 33955509, 34419044, 35234134

POC1A (POC1 centriolar protein A)