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	256764
Gene name	WD repeat domain 72
Gene symbol	WDR72
Synonyms (NCBI Gene)	AI2A3
Chromosome	15
Chromosome location	15q21.3
Summary	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143816093	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, non coding transcript variant
rs267607178	G>A,C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, stop gained
rs557128345	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs606231351	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs606231462	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs768446132	A>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs770804941	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs774263130	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1266819147	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained, genic upstream transcript variant
rs1376457227	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

292

Show/Hide all (292)

miRTarBase ID	miRNA	Experiments	Reference
MIRT515415	hsa-miR-8485	HITS-CLIP	21572407
MIRT515414	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT515413	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT515412	hsa-miR-603	HITS-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515409	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT515408	hsa-miR-567	HITS-CLIP	21572407
MIRT515407	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515405	hsa-miR-3941	HITS-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515402	hsa-miR-3924	HITS-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	HITS-CLIP	21572407
MIRT515400	hsa-miR-297	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23313552
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT515409	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT515407	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT515405	hsa-miR-3941	HITS-CLIP	23313552
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT515414	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT515413	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT515412	hsa-miR-603	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515405	hsa-miR-3941	HITS-CLIP	23824327
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515415	hsa-miR-8485	PAR-CLIP	21572407
MIRT515414	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515413	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515412	hsa-miR-603	PAR-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515408	hsa-miR-567	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515405	hsa-miR-3941	PAR-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515402	hsa-miR-3924	PAR-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT515400	hsa-miR-297	PAR-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515415	hsa-miR-8485	PAR-CLIP	23446348
MIRT515414	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515413	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515412	hsa-miR-603	PAR-CLIP	23446348
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515409	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT515408	hsa-miR-567	PAR-CLIP	23446348
MIRT515407	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515405	hsa-miR-3941	PAR-CLIP	23446348
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515402	hsa-miR-3924	PAR-CLIP	23446348
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT515400	hsa-miR-297	PAR-CLIP	23446348
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515415	hsa-miR-8485	HITS-CLIP	21572407
MIRT515414	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT515413	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT515412	hsa-miR-603	HITS-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT515409	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT515408	hsa-miR-567	HITS-CLIP	21572407
MIRT515407	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515405	hsa-miR-3941	HITS-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515402	hsa-miR-3924	HITS-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	HITS-CLIP	21572407
MIRT515400	hsa-miR-297	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23313552
MIRT515411	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT515410	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT515409	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT515407	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT515406	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT515405	hsa-miR-3941	HITS-CLIP	23313552
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT515403	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT515414	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT515413	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT515412	hsa-miR-603	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515405	hsa-miR-3941	HITS-CLIP	23824327
MIRT515404	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT515415	hsa-miR-8485	HITS-CLIP	23824327
MIRT633493	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT633492	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT633491	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT633490	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT633489	hsa-miR-4262	HITS-CLIP	23824327
MIRT633488	hsa-miR-4719	HITS-CLIP	23824327
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT515409	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT515407	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515415	hsa-miR-8485	PAR-CLIP	21572407
MIRT515414	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515413	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515412	hsa-miR-603	PAR-CLIP	21572407
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515408	hsa-miR-567	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515405	hsa-miR-3941	PAR-CLIP	21572407
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515402	hsa-miR-3924	PAR-CLIP	21572407
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT515400	hsa-miR-297	PAR-CLIP	21572407
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515409	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT515407	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515415	hsa-miR-8485	PAR-CLIP	23446348
MIRT515414	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515413	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515412	hsa-miR-603	PAR-CLIP	23446348
MIRT515411	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515410	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515409	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT515408	hsa-miR-567	PAR-CLIP	23446348
MIRT515407	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515406	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515405	hsa-miR-3941	PAR-CLIP	23446348
MIRT515404	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT515403	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515402	hsa-miR-3924	PAR-CLIP	23446348
MIRT515401	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT515400	hsa-miR-297	PAR-CLIP	23446348
MIRT515399	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT1491278	hsa-miR-101	CLIP-seq
MIRT1491279	hsa-miR-1227	CLIP-seq
MIRT1491280	hsa-miR-127-5p	CLIP-seq
MIRT1491281	hsa-miR-1303	CLIP-seq
MIRT1491282	hsa-miR-144	CLIP-seq
MIRT1491283	hsa-miR-151-5p	CLIP-seq
MIRT1491284	hsa-miR-151b	CLIP-seq
MIRT1491285	hsa-miR-2467-5p	CLIP-seq
MIRT1491286	hsa-miR-300	CLIP-seq
MIRT1491287	hsa-miR-3074-5p	CLIP-seq
MIRT1491288	hsa-miR-3127-3p	CLIP-seq
MIRT1491289	hsa-miR-3131	CLIP-seq
MIRT1491290	hsa-miR-3164	CLIP-seq
MIRT1491291	hsa-miR-3168	CLIP-seq
MIRT1491292	hsa-miR-3188	CLIP-seq
MIRT1491293	hsa-miR-3200-3p	CLIP-seq
MIRT1491294	hsa-miR-329	CLIP-seq
MIRT1491295	hsa-miR-338-5p	CLIP-seq
MIRT1491296	hsa-miR-3545-3p	CLIP-seq
MIRT1491297	hsa-miR-3616-5p	CLIP-seq
MIRT1491298	hsa-miR-3647-5p	CLIP-seq
MIRT1491299	hsa-miR-3667-3p	CLIP-seq
MIRT1491300	hsa-miR-3667-5p	CLIP-seq
MIRT1491301	hsa-miR-381	CLIP-seq
MIRT1491302	hsa-miR-3928	CLIP-seq
MIRT1491303	hsa-miR-3973	CLIP-seq
MIRT1491304	hsa-miR-3975	CLIP-seq
MIRT1491305	hsa-miR-4277	CLIP-seq
MIRT1491306	hsa-miR-4281	CLIP-seq
MIRT1491307	hsa-miR-4282	CLIP-seq
MIRT1491308	hsa-miR-4635	CLIP-seq
MIRT1491309	hsa-miR-4642	CLIP-seq
MIRT1491310	hsa-miR-4649-3p	CLIP-seq
MIRT1491311	hsa-miR-4666-3p	CLIP-seq
MIRT1491312	hsa-miR-4735-5p	CLIP-seq
MIRT1491313	hsa-miR-4738-3p	CLIP-seq
MIRT1491314	hsa-miR-4742-3p	CLIP-seq
MIRT1491315	hsa-miR-4760-5p	CLIP-seq
MIRT1491316	hsa-miR-4775	CLIP-seq
MIRT1491317	hsa-miR-4795-5p	CLIP-seq
MIRT1491318	hsa-miR-485-5p	CLIP-seq
MIRT1491319	hsa-miR-495	CLIP-seq
MIRT1491320	hsa-miR-513a-3p	CLIP-seq
MIRT1491321	hsa-miR-520g	CLIP-seq
MIRT1491322	hsa-miR-520h	CLIP-seq
MIRT1491323	hsa-miR-544b	CLIP-seq
MIRT1491324	hsa-miR-548g	CLIP-seq
MIRT1491325	hsa-miR-573	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT1491327	hsa-miR-590-3p	CLIP-seq
MIRT1491328	hsa-miR-611	CLIP-seq
MIRT1491329	hsa-miR-630	CLIP-seq
MIRT1491330	hsa-miR-659	CLIP-seq
MIRT1491331	hsa-miR-889	CLIP-seq
MIRT1491332	hsa-miR-942	CLIP-seq
MIRT2148110	hsa-miR-1224-3p	CLIP-seq
MIRT2148111	hsa-miR-1260	CLIP-seq
MIRT2148112	hsa-miR-1260b	CLIP-seq
MIRT2148113	hsa-miR-1280	CLIP-seq
MIRT2148114	hsa-miR-1305	CLIP-seq
MIRT2148115	hsa-miR-1976	CLIP-seq
MIRT2148116	hsa-miR-217	CLIP-seq
MIRT2148117	hsa-miR-3140-3p	CLIP-seq
MIRT2148118	hsa-miR-324-5p	CLIP-seq
MIRT1491294	hsa-miR-329	CLIP-seq
MIRT2148119	hsa-miR-3618	CLIP-seq
MIRT2148120	hsa-miR-374a	CLIP-seq
MIRT2148121	hsa-miR-374b	CLIP-seq
MIRT2148122	hsa-miR-4263	CLIP-seq
MIRT2148123	hsa-miR-4328	CLIP-seq
MIRT2148124	hsa-miR-4418	CLIP-seq
MIRT2148125	hsa-miR-4421	CLIP-seq
MIRT1491316	hsa-miR-4775	CLIP-seq
MIRT2148126	hsa-miR-4799-5p	CLIP-seq
MIRT2148127	hsa-miR-509-3-5p	CLIP-seq
MIRT2148128	hsa-miR-509-5p	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT1491327	hsa-miR-590-3p	CLIP-seq
MIRT2148129	hsa-miR-607	CLIP-seq
MIRT2148130	hsa-miR-934	CLIP-seq
MIRT2368587	hsa-miR-145	CLIP-seq
MIRT2368588	hsa-miR-25	CLIP-seq
MIRT2368589	hsa-miR-3120-3p	CLIP-seq
MIRT2148117	hsa-miR-3140-3p	CLIP-seq
MIRT2368590	hsa-miR-3180-5p	CLIP-seq
MIRT2368591	hsa-miR-32	CLIP-seq
MIRT1491297	hsa-miR-3616-5p	CLIP-seq
MIRT2368592	hsa-miR-363	CLIP-seq
MIRT1491298	hsa-miR-3647-5p	CLIP-seq
MIRT2368593	hsa-miR-367	CLIP-seq
MIRT2148122	hsa-miR-4263	CLIP-seq
MIRT2368594	hsa-miR-4645-5p	CLIP-seq
MIRT2368595	hsa-miR-4673	CLIP-seq
MIRT2368596	hsa-miR-4795-3p	CLIP-seq
MIRT1491317	hsa-miR-4795-5p	CLIP-seq
MIRT2368597	hsa-miR-548c-3p	CLIP-seq
MIRT1491325	hsa-miR-573	CLIP-seq
MIRT1491326	hsa-miR-576-5p	CLIP-seq
MIRT2368598	hsa-miR-92a	CLIP-seq
MIRT2368599	hsa-miR-92b	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20938048
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

MIM	HGNC	e!Ensembl
613214	26790	ENSG00000166415

Q3MJ13

Protein name

WD repeat-containing protein 72

Protein function

Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	452 → 495	WD domain, G-beta repeat	Repeat
PF00400	WD40	547 → 585	WD domain, G-beta repeat	Repeat

Sequence

MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFG
HSASVTCLARARDFSKQPYIVSAAENGEMCVWNVTNGQCMEKATLPYRHTAICYYHCSFR
MTGEGWLLCCGEYQDVLIIDAKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSV
AGELKVWDLSSSINSIQEKQDVYEKESKFLESLNCQTIRFCTYTERLLLVVFSKCWKVYD
YCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYIYQLLNSGLSKSIYPADGRVL
KETIYPHLLCSTSVQENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRITLWHIPDVPVS
KFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI
CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQS
WMLSGDLDSCVILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLRGEQIICCVCGDHSVA
LLHLEGKSCLLHARKHLFPVRMIKWHPVENFLIVGCADDSVYIWEIETGTLERHETGERA
RIILNCCDDSQLVKSVLPIASETLKHKSIEQRSSSPYQLGPLPCPGLQVESSCKVTDAKF
CPRPFNVLPVKTKWSNVGFHILLFDLENLVELLLPTPLSDVDSSSSFYGGEVLRRAKSTV
EKKTLTLRKSKTACGPLSAEALAKPITESLAQGDNTIKFSEENDGIKRQKKMKISKKMQP
KPSRKVDASLTIDTAKLFLSCLLPWGVDKDLDYLCIKHLNILKLQGPISLGISLNEDNFS
LMLPGWDLCNSGMIKDYSGVNLFSRKVLDLSDKYTATLPNQVGIPRGLENNCDSLRESDT
IVYLLSRLFLVNKLVNMPLELACRVGSSFRMESIHNKMRGAGNDILNMSSFYSCLRNGKN
ESHVPEADLSLLKLISCWRDQSVQVTEAIQAVLLAEVQQHMKSLGKIPVNSQPVSMAENG
NCEMKQMLPKLEWTEELELQCVRNTLPLQTPVSPVKHDSNSNSANFQDVEDMPDRCALEE
SESPGEPRHHSWIAKVCPCKVS

Sequence length

1102

Interactions

View interactions

282

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Pathogenic; Likely pathogenic	rs2543070545, rs764406738, rs2542089179, rs779460257, rs770804941	RCV003313811 RCV003314736 RCV003314737 RCV004018350 RCV000604368
Amelogenesis imperfecta hypomaturation type 2A3	Pathogenic; Likely pathogenic	rs267607178, rs143816093, rs606231351, rs606231462, rs142154661, rs2542109823, rs757690372, rs756471926, rs2543065306, rs2017517553, rs1431736022, rs779460257, rs770804941, rs557128345	RCV000000255 RCV000000256 RCV000000257 RCV000148931 RCV003154853 RCV003154854 RCV003154857 RCV003154858 RCV003232053 RCV003989994 RCV003990417 RCV005006363 RCV002272302 RCV002491342
Distal renal tubular acidosis	Likely pathogenic; Pathogenic	rs1469562355, rs2140558454	RCV001849578 RCV001849708
Hypophosphatemic rickets	Likely pathogenic; Pathogenic	rs1469562355	RCV001845037
Renal tubular acidosis, distal, 4, with hemolytic anemia	Pathogenic	rs557128345, rs768446132	RCV000677370 RCV000677369
Renal tubulopathies	Pathogenic	rs606231351	RCV006272126

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amelogenesis Imperfecta, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs17730281, rs6416452, rs551225, rs690337, rs690346, rs34828731, rs886051282, rs201133545, rs181220553, rs7175439, rs1555402394, rs777102975, rs796396291, rs886051286, rs1555402422 View all (46 more)	RCV000271084 RCV000374023 RCV000395326 RCV000305918 RCV000360705 RCV000261294 RCV000314022 RCV000331630 RCV000365012 RCV000325673 RCV000286064 RCV000337687 RCV000376928 RCV000284894 RCV000279164 RCV000309509 RCV000378066 RCV000281235 RCV000321047 RCV000395515 RCV000306737 RCV000299679 RCV000302451 RCV000276815 RCV000343117 RCV000334884 RCV000397887 RCV000314727 RCV000264798 RCV000305543 RCV000272993 RCV000382563 RCV000324806 RCV000336582 RCV000366589 RCV000269662 RCV000372177 RCV000280000 RCV000399327 RCV000265596 RCV000387979 RCV000341062 RCV000327100 RCV000381734 RCV000273124 RCV000268015 RCV000261681 RCV000355817 RCV000299590 RCV000356649 RCV000274143 RCV000367805 RCV000360592 RCV000319861 RCV000346282 RCV000356738 RCV000330361 RCV000353977 RCV000378207 RCV000281212 RCV000366046 RCV000321461 RCV000344777 RCV000370960 RCV000397949 RCV000401600 RCV000315500 RCV000327013 RCV000305639 RCV000387232 RCV000381502 RCV000289347 RCV000402275 RCV000350167 RCV000344229
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs17630660	RCV005893398
Gastric cancer	Likely benign	rs188590145	RCV005913745
Thymoma	Conflicting classifications of pathogenicity	rs17630660	RCV005893397
WDR72-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs7164808, rs138555114, rs767988638, rs57737580, rs114363728, rs34123953, rs150548151, rs140373011	RCV003977317 RCV003951445 RCV003976877 RCV003910197 RCV003969887 RCV003983014 RCV003920330 RCV003938470 RCV003953487

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	30779877
Acidosis Renal Tubular	Associate	30779877
Amelogenesis Imperfecta	Associate	20938048, 21196691, 21597265, 22243262, 30779877, 31959358, 35181734
Amelogenesis Imperfecta hypomaturation type	Associate	19853237, 20938048, 21196691
Amelogenesis Imperfecta Hypomaturation Type Iia3	Associate	30779877
Carcinoma Non Small Cell Lung	Associate	37197572
Carcinoma Renal Cell	Associate	33234734, 38048211
Colorectal Neoplasms	Associate	32749190, 37158531
Developmental Defects of Enamel	Associate	35181734
Diabetic Nephropathies	Associate	30552240
Esophageal Neoplasms	Associate	26631031
Hypoxia	Associate	38287425
Kidney Calculi	Associate	30476138
Lung Neoplasms	Associate	37197572
Neoplasms	Associate	26631031, 32749190, 37197572
Neoplasms	Inhibit	33234734
Renal Insufficiency Chronic	Associate	20383146
Scrub Typhus	Associate	33807835

WDR72 (WD repeat domain 72)