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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57716
Gene name	Periaxin
Gene symbol	PRX
Synonyms (NCBI Gene)	CMT4F
Chromosome	19
Chromosome location	19q13.2
Summary	This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3814290	C>A,G,T	Uncertain-significance, not-provided, pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs10425452	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant
rs104894706	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, synonymous variant, stop gained, 3 prime UTR variant
rs104894707	A>T	Pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs104894708	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs104894714	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs104894715	G>A,C	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant, stop gained
rs117336941	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, missense variant
rs139188673	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs139624657	CTCCTCCTCCTC>-,CTC,CTCCTC,CTCCTCCTC,CTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTC	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, 3 prime UTR variant, inframe insertion, coding sequence variant
rs142436391	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs142762689	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs144183238	G>A	Uncertain-significance, pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs147587689	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs147826200	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs148600818	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs148939995	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs186086914	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, coding sequence variant
rs200033507	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 3 prime UTR variant
rs281865061	G>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs281865062	C>-	Pathogenic, uncertain-significance	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs574861276	G>A,C	Pathogenic	Missense variant, stop gained, 3 prime UTR variant, coding sequence variant
rs752192677	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs754521978	G>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs756689732	G>A	Uncertain-significance, pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs757771239	A>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs765769524	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, synonymous variant, stop gained
rs773009397	G>A	Pathogenic, uncertain-significance	Coding sequence variant, 3 prime UTR variant, stop gained
rs776887800	A>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs797045102	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs964195568	T>A	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1064797244	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1210729449	G>A	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1301129751	->A	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1317590341	C>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1385904344	C>A,T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, missense variant
rs1555800610	GACGGCCACAGCCCCCTCTGCCCTCCCTTCCTCCTGGGCGCCCAGCGTGACCAGCTCCACCTCGGGGATCT>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1555801290	C>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1555802173	->TT	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1568704829	->A	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1568708792	C>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1568710514	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599651549	A>-	Uncertain-significance, likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1599651726	T>A	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1599652316	->A	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1599655206	GGAA>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1599656507	G>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1599656972	->ACTCTGGATG	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1599662669	->AGGCTGAGGCTCC	Pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599662837	->AT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021812	hsa-miR-132-3p	Microarray	17612493
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT664527	hsa-miR-5090	HITS-CLIP	19536157
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT664527	hsa-miR-5090	HITS-CLIP	19536157
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT664529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664528	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT664526	hsa-miR-5193	HITS-CLIP	23824327
MIRT664527	hsa-miR-5090	HITS-CLIP	23824327
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	23824327
MIRT664524	hsa-miR-4508	HITS-CLIP	23824327
MIRT664523	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT664522	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT664521	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT664520	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT664519	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT664518	hsa-miR-6727-5p	HITS-CLIP	23824327
MIRT664517	hsa-miR-6894-3p	HITS-CLIP	23824327
MIRT492561	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT499967	hsa-miR-3124-3p	PAR-CLIP	22012620
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	22012620
MIRT492557	hsa-miR-3960	PAR-CLIP	22012620
MIRT492556	hsa-miR-8072	PAR-CLIP	22012620
MIRT492555	hsa-miR-765	PAR-CLIP	22012620
MIRT492553	hsa-miR-4467	PAR-CLIP	22012620
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT499966	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT492546	hsa-miR-328-5p	PAR-CLIP	22012620
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	22012620
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	22012620
MIRT499965	hsa-miR-3074-5p	PAR-CLIP	22012620
MIRT499964	hsa-miR-7152-5p	PAR-CLIP	22012620
MIRT492561	hsa-miR-939-3p	PAR-CLIP	24398324
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	24398324
MIRT499967	hsa-miR-3124-3p	PAR-CLIP	24398324
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	24398324
MIRT492557	hsa-miR-3960	PAR-CLIP	24398324
MIRT492556	hsa-miR-8072	PAR-CLIP	24398324
MIRT492555	hsa-miR-765	PAR-CLIP	24398324
MIRT492553	hsa-miR-4467	PAR-CLIP	24398324
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT492552	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT499966	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT492546	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	24398324
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	24398324
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT499965	hsa-miR-3074-5p	PAR-CLIP	24398324
MIRT499964	hsa-miR-7152-5p	PAR-CLIP	24398324
MIRT492561	hsa-miR-939-3p	PAR-CLIP	23592263
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT492559	hsa-miR-637	PAR-CLIP	23592263
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT492557	hsa-miR-3960	PAR-CLIP	23592263
MIRT492556	hsa-miR-8072	PAR-CLIP	23592263
MIRT492555	hsa-miR-765	PAR-CLIP	23592263
MIRT492553	hsa-miR-4467	PAR-CLIP	23592263
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT492552	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT492551	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492550	hsa-miR-5698	PAR-CLIP	23592263
MIRT492549	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492548	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT492546	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT664527	hsa-miR-5090	HITS-CLIP	19536157
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT714688	hsa-miR-524-3p	HITS-CLIP	19536157
MIRT714687	hsa-miR-525-3p	HITS-CLIP	19536157
MIRT714686	hsa-miR-6895-5p	HITS-CLIP	19536157
MIRT714685	hsa-miR-3918	HITS-CLIP	19536157
MIRT664527	hsa-miR-5090	HITS-CLIP	19536157
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT714684	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT714683	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT714682	hsa-miR-663a	HITS-CLIP	19536157
MIRT714681	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT714680	hsa-miR-3127-5p	HITS-CLIP	19536157
MIRT664529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664528	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT664526	hsa-miR-5193	HITS-CLIP	23824327
MIRT664527	hsa-miR-5090	HITS-CLIP	23824327
MIRT664525	hsa-miR-6775-5p	HITS-CLIP	23824327
MIRT664524	hsa-miR-4508	HITS-CLIP	23824327
MIRT664523	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT664522	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT664521	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT664520	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT664519	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT664518	hsa-miR-6727-5p	HITS-CLIP	23824327
MIRT664517	hsa-miR-6894-3p	HITS-CLIP	23824327
MIRT492561	hsa-miR-939-3p	PAR-CLIP	22012620
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	22012620
MIRT499967	hsa-miR-3124-3p	PAR-CLIP	22012620
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	22012620
MIRT492557	hsa-miR-3960	PAR-CLIP	22012620
MIRT492556	hsa-miR-8072	PAR-CLIP	22012620
MIRT492555	hsa-miR-765	PAR-CLIP	22012620
MIRT492553	hsa-miR-4467	PAR-CLIP	22012620
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT499966	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT492546	hsa-miR-328-5p	PAR-CLIP	22012620
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	22012620
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	22012620
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	22012620
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	22012620
MIRT499965	hsa-miR-3074-5p	PAR-CLIP	22012620
MIRT499964	hsa-miR-7152-5p	PAR-CLIP	22012620
MIRT492561	hsa-miR-939-3p	PAR-CLIP	24398324
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	24398324
MIRT499967	hsa-miR-3124-3p	PAR-CLIP	24398324
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	24398324
MIRT492557	hsa-miR-3960	PAR-CLIP	24398324
MIRT492556	hsa-miR-8072	PAR-CLIP	24398324
MIRT492555	hsa-miR-765	PAR-CLIP	24398324
MIRT492553	hsa-miR-4467	PAR-CLIP	24398324
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT492552	hsa-miR-6829-5p	PAR-CLIP	24398324
MIRT499966	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT492546	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	24398324
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	24398324
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT499965	hsa-miR-3074-5p	PAR-CLIP	24398324
MIRT499964	hsa-miR-7152-5p	PAR-CLIP	24398324
MIRT492561	hsa-miR-939-3p	PAR-CLIP	23592263
MIRT492560	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT492559	hsa-miR-637	PAR-CLIP	23592263
MIRT492558	hsa-miR-3194-5p	PAR-CLIP	23592263
MIRT492557	hsa-miR-3960	PAR-CLIP	23592263
MIRT492556	hsa-miR-8072	PAR-CLIP	23592263
MIRT492555	hsa-miR-765	PAR-CLIP	23592263
MIRT492553	hsa-miR-4467	PAR-CLIP	23592263
MIRT492554	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT492552	hsa-miR-6829-5p	PAR-CLIP	23592263
MIRT492551	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492550	hsa-miR-5698	PAR-CLIP	23592263
MIRT492549	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492548	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT492547	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492545	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT492546	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT492544	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT492543	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT492542	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT492541	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT1268986	hsa-miR-1202	CLIP-seq
MIRT1268987	hsa-miR-3972	CLIP-seq
MIRT1268988	hsa-miR-4650-5p	CLIP-seq
MIRT1268989	hsa-miR-4690-5p	CLIP-seq
MIRT1268990	hsa-miR-4704-3p	CLIP-seq
MIRT1268991	hsa-miR-4722-3p	CLIP-seq
MIRT2305319	hsa-miR-185	CLIP-seq
MIRT2305320	hsa-miR-4306	CLIP-seq
MIRT2305321	hsa-miR-4644	CLIP-seq
MIRT2602470	hsa-miR-1254	CLIP-seq
MIRT2602471	hsa-miR-3116	CLIP-seq
MIRT2602472	hsa-miR-3144-5p	CLIP-seq
MIRT2602473	hsa-miR-3191	CLIP-seq
MIRT2602474	hsa-miR-4454	CLIP-seq
MIRT2602475	hsa-miR-4652-5p	CLIP-seq
MIRT2602476	hsa-miR-491-5p	CLIP-seq
MIRT2602477	hsa-miR-541	CLIP-seq
MIRT2602478	hsa-miR-654-5p	CLIP-seq
MIRT2602470	hsa-miR-1254	CLIP-seq
MIRT2602471	hsa-miR-3116	CLIP-seq
MIRT2602472	hsa-miR-3144-5p	CLIP-seq
MIRT2602473	hsa-miR-3191	CLIP-seq
MIRT2602474	hsa-miR-4454	CLIP-seq
MIRT2602475	hsa-miR-4652-5p	CLIP-seq
MIRT2602476	hsa-miR-491-5p	CLIP-seq
MIRT2602477	hsa-miR-541	CLIP-seq
MIRT2602478	hsa-miR-654-5p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17474147, 21044950
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24633211
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24633211
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008366	Process	Axon ensheathment	NAS	11133365
GO:0016020	Component	Membrane	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IBA
GO:0043484	Process	Regulation of RNA splicing	IBA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
605725	13797	ENSG00000105227

Q9BXM0

Protein name

Periaxin

Protein function

Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for

PDB

4CMZ

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804). {ECO:0000269|PubMed:11133365, ECO:0000269|PubMed:11157804}.

Sequence

MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFVRELREDSPAARSLSLQ
EGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPTGDLALRPGTVSGYEIKGP
RAKVAKLNIQSLSPVKKKKMVPGALGVPADLAPVDVEFSFPKFSRLRRGLKAEAVKGPVP
AAPARRRLQLPRLRVREVAEEAQAARLAAAAPPPRKAKVEAEVAAGARFTAPQVELVGPR
LPGAEVGVPQVSAPKAAPSAEAAGGFALHLPTLGLGAPAPPAVEAPAVGIQVPQVELPAL
PSLPTLPTLPCLETREGAVSVVVPTLDVAAPTVGVDLALPGAEVEARGEAPEVALKMPRL
SFPRFGARAKEVAEAKVAKVSPEARVKGPRLRMPTFGLSLLEPRPAAPEVVESKLKLPTI
KMPSLGIGVSGPEVKVPKGPEVKLPKAPEVKLPKVPEAALPEVRLPEVELPKVSEMKLPK
VPEMAVPEVRLPEVELPKVSEMKLPKVPEMAVPEVRLPEVQLLKVSEMKLPKVPEMAVPE
VRLPEVQLPKVSEMKLPEVSEVAVPEVRLPEVQLPKVPEMKVPEMKLPKVPEMKLPEMKL
PEVQLPKVPEMAVPDVHLPEVQLPKVPEMKLPEMKLPEVKLPKVPEMAVPDVHLPEVQLP
KVPEMKLPKMPEMAVPEVRLPEVQLPKVSEMKLPKVPEMAVPDVHLPEVQLPKVCEMKVP
DMKLPEIKLPKVPEMAVPDVHLPEVQLPKVSEIRLPEMQVPKVPDVHLPKAPEVKLPRAP
EVQLKATKAEQAEGMEFGFKMPKMTMPKLGRAESPSRGKPGEAGAEVSGKLVTLPCLQPE
VDGEAHVGVPSLTLPSVELDLPGALGLQGQVPAAKMGKGERVEGPEVAAGVREVGFRVPS
VEIVTPQLPAVEIEEGRLEMIETKVKPSSKFSLPKFGLSGPKVAKAEAEGAGRATKLKVS
KFAISLPKARVGAEAEAKGAGEAGLLPALDLSIPQLSLDAHLPSGKVEVAGADLKFKGPR
FALPKFGVRGRDTEAAELVPGVAELEGKGWGWDGRVKMPKLKMPSFGLARGKEAEVQGDR
ASPGEKAESTAVQLKIPEVELVTLGAQEEGRAEGAVAVSGMQLSGLKVSTAGQVVTEGHD
AGLRMPPLGISLPQVELTGFGEAGTPGQQAQSTVPSAEGTAGYRVQVPQVTLSLPGAQVA
GGELLVGEGVFKMPTVTVPQLELDVGLSREAQAGEAATGEGGLRLKLPTLGARARVGGEG
AEEQPPGAERTFCLSLPDVELSPSGGNHAEYQVAEGEGEAGHKLKVRLPRFGLVRAKEGA
EEGEKAKSPKLRLPRVGFSQSEMVTGEGSPSPEEEEEEEEEGSGEGASGRRGRVRVRLPR
VGLAAPSKASRGQEGDAAPKSPVREKSPKFRFPRVSLSPKARSGSGDQEEGGLRVRLPSV
GFSETGAPGPARMEGAQAAAV

Sequence length

1461

Interactions

View interactions

	Reactome
			EGR2 and SOX10-mediated initiation of Schwann cell myelination

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive Dejerine-Sottas syndrome	Pathogenic; Likely pathogenic	rs104894714, rs104894715, rs797045102, rs754521978	RCV000005053 RCV000005055 RCV000005056 RCV000005054	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs104894714, rs104894706, rs104894707, rs1555800610, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1599662861, rs1599662669, rs2079512634, rs2079512694, rs2079512738, rs2079512784 View all (2 more)	RCV001172752 RCV000789537 RCV001172756 RCV001172753 RCV000789718 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Pathogenic; Likely pathogenic	rs2145731305, rs2079467367, rs2079511684, rs1474525486, rs752095452, rs1252279085, rs767591489, rs2145727806, rs2145726269, rs2145727241, rs1210940629, rs104894714, rs104894715, rs104894706, rs104894707 View all (34 more)	RCV001389087 RCV001389527 RCV002031444 RCV001896441 RCV002004723 View all (46 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4F	Likely pathogenic; Pathogenic	rs2079426412, rs2145728259, rs2145727241, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs797045102, rs1385904344, rs574861276, rs1568708792, rs144183238, rs1599662861, rs756689732 View all (5 more)	RCV001330567 RCV002509699 RCV002250961 RCV000201141 RCV001353155 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, type I	Likely pathogenic; Pathogenic	rs756689732, rs1599656851	RCV000857052 RCV000857065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dejerine-Sottas disease	Pathogenic; Likely pathogenic	rs2079443119, rs104894708, rs773009397, rs1555801290, rs144183238, rs756689732	RCV002250269 RCV000005061 RCV000789534 RCV000501756 RCV005409738 RCV005392408 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Likely pathogenic	rs2145733964	RCV001775019	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gaucher disease	Pathogenic	rs752192677	RCV004526818	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs104894715	RCV001813951	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRX-related disorder	Pathogenic; Likely pathogenic	rs104894714, rs2514807382, rs146342432, rs752192677	RCV004751202 RCV003977384 RCV004702566 RCV004579570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs1568707185	RCV001312241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND MOTOR NEUROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 46	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28659575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31426691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	29574296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	36161833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10848494, 11112660, 11157804, 11835375, 12094560, 12112076, 15197604, 16534116, 16770524, 18410371, 18504680, 19922348, 21741241, 22847150, 28587902, 31011849, 31024253 View all (2 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	15197604		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	11133365, 12112076, 15197604, 15469949, 16770524, 22847150, 25614874, 26059842, 27862672		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	BEFREE	12090399		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	10848494		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	Charcot-Marie-Tooth Disease	CLINVAR_DG	11133365		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	Charcot-Marie-Tooth Disease	BEFREE	12090399, 12094560		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	Charcot-Marie-Tooth Disease	UNIPROT_DG	22847150		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2B2	Charcot-Marie-Tooth disease	BEFREE	11112660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27832933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	GENOMICS_ENGLAND_DG	27081207		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	10848494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG	11133365, 11157804, 15197604, 21079185, 22847150, 24078732, 26059842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	ORPHANET_DG	11133365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	12090399, 12094560, 12112076, 15197604, 18410371, 22847150, 26059842, 31523542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas syndrome	Dejerine-Sottas Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating Diseases	BEFREE	10839370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	18504680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	18504680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	26059842, 31426691, 36833258, 36870952	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary, Type VII, Motor and Sensory Neuropathy	Motor and Sensory Neuropathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28392436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29554978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31280208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29428200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	23832213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	12393181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	12393181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12858066, 16534116, 18410371, 21079185, 27629714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28392436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	GWASCAT_DG	27632927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	CLINVAR_DG	11157804, 15197604, 21079185, 22847150, 26059842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	12090399, 12858066, 18410371, 31024253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12094560, 28587902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25164601, 26059842, 32018185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28587902		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27660222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31280208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	29696577		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRX (periaxin)