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

1615

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
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 RCV000789535 RCV000789544 RCV000789543 RCV000790326 RCV000789550 RCV000789536 RCV000789546 RCV001172758 RCV001172754 RCV001172759 RCV001172760 RCV001172755
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 RCV001928690 RCV002016456 RCV001871462 RCV002026469 RCV003094076 RCV002596714 RCV000458979 RCV000688310 RCV001222897 RCV000474032 RCV000701391 RCV002514085 RCV001048951 RCV001057364 RCV003583307 RCV003745646 RCV003745747 RCV003745971 RCV003745924 RCV003744099 RCV003744217 RCV003744256 RCV003743078 RCV003743075 RCV003876820 RCV001217420 RCV000654042 RCV000696663 RCV000703893 RCV000699801 RCV000807484 RCV001037817 RCV001869224 RCV001385890 RCV001869235 RCV002535808 RCV000800697 RCV000809034 RCV000804288 RCV001043695 RCV005056747 RCV001037080 RCV001046029 RCV001216021 RCV001225113 RCV001231331
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 RCV000005057 RCV000032004 RCV000032006 RCV000190618 RCV000664232 RCV006440033 RCV000785029 RCV005409738 RCV005870871 RCV005392408 RCV001796241 RCV000985146 RCV001030788 RCV001196692 RCV002305577
Charcot-Marie-Tooth disease, type I	Likely pathogenic; Pathogenic	rs756689732, rs1599656851	RCV000857052 RCV000857065
Dejerine-Sottas disease	Pathogenic; Likely pathogenic	rs2079443119, rs104894708, rs773009397, rs1555801290, rs144183238, rs756689732	RCV002250269 RCV000005061 RCV000789534 RCV000501756 RCV005409738 RCV005392408
Developmental cataract	Likely pathogenic	rs2145733964	RCV001775019
Gaucher disease	Pathogenic	rs752192677	RCV004526818
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs104894715	RCV001813951
PRX-related disorder	Pathogenic; Likely pathogenic	rs104894714, rs2514807382, rs146342432, rs752192677	RCV004751202 RCV003977384 RCV004702566 RCV004579570
Tip-toe gait	Likely pathogenic	rs1568707185	RCV001312241

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Distal spinal muscular atrophy	Uncertain significance	rs201389706, rs1340773932, rs759471716, rs568618329	RCV000857055 RCV000857058 RCV000857059 RCV000857061

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	31426691
Cataract	Associate	36161833
Charcot Marie Tooth Disease	Associate	18504680, 25164601, 36833258, 36870952
Charcot Marie Tooth disease Type 4E	Associate	31426691
Demyelinating Diseases	Associate	18504680
Foot Deformities	Associate	21840889
Hereditary Sensory and Autonomic Neuropathy Type Ie	Associate	18504680
Hereditary Sensory and Motor Neuropathy	Associate	26059842, 31426691, 36833258, 36870952
Heredodegenerative Disorders Nervous System	Associate	23832213
Muscle Weakness	Associate	31426691
Muscular Atrophy	Associate	36870952
Nervous System Diseases	Associate	23832213
Neural Tube Defects	Associate	12393181
Otitis Media	Associate	27632927
Otitis Media with Effusion	Associate	27632927
Peripheral Nervous System Diseases	Associate	25164601, 26059842, 32018185
Polyradiculoneuropathy	Associate	18504680
Sensation Disorders	Associate	18504680
Spastic ataxia Charlevoix Saguenay type	Associate	36833258
Talipes Cavus	Associate	31426691

PRX (periaxin)