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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	25886
Gene name	POC1 centriolar protein A
Gene symbol	POC1A
Synonyms (NCBI Gene)	PIX2SOFTWDR51A
Chromosome	3
Chromosome location	3p21.2
Summary	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 (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	23015594
GO:0000922	Component	Spindle pole	IEA
GO:0003431	Process	Growth plate cartilage chondrocyte development	IEA
GO:0005515	Function	Protein binding	IPI	23015594, 25036637, 26638075, 28514442, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	20008567, 23015594
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007052	Process	Mitotic spindle organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0010825	Process	Positive regulation of centrosome duplication	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	20008567
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060348	Process	Bone development	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
614783	24488	ENSG00000164087

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

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ateleiotic dwarfism	Pathogenic	rs397514487	RCV001838528	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs146848374	RCV005928360	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POC1A-related disorder	Likely pathogenic	rs2107090748	RCV003403757	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POC1A-related syndrome	Pathogenic	rs1703818635, rs763709592	RCV001260581 RCV001260582	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Pathogenic; Likely pathogenic	rs780164701, rs372247136, rs2107189610, rs747094191, rs2107090748, rs2470918494, rs1203995886, rs778252554, rs397514487, rs397514488, rs918352190, rs770990008, rs1698348226	RCV001553770 RCV003147640 RCV001784864 RCV005025522 RCV005025741 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24074788, 30261866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33725402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22840364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	22840364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22840364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25385269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30343070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28714975, 30343070, 31690775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24718970, 30343070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30949673, 31690775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30949673, 31690775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	30584678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	22840364, 26162852, 26336158, 26374189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	26791357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	28819016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	22840363, 26336158, 28819016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP Q	Fanconi Anemia	GENOMICS_ENGLAND_DG	22440536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26336158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26336158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22840363, 26336158, 28819016, 35234134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	22840363, 28819016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26336158, 28819016, 35234134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24074788, 30261866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29409330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35234134	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29982268		★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29409330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	22840364, 26336158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	22840364, 26162852, 26336158, 26374189		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	GENOMICS_ENGLAND_DG	26791357		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM I	Pituitary dwarfism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	26791357		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	GENOMICS_ENGLAND_DG	22440536, 26336158, 26791357		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	BEFREE	22840363, 26162852, 26374189, 26791357, 30569574, 31767933		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	ORPHANET_DG	22840363, 22840364		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	UNIPROT_DG	22840363, 22840364		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	26336158		★★★★★ ★☆☆☆☆ Found in Text Mining only

POC1A (POC1 centriolar protein A)