DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13)

Gene

• Entrez ID: 374407
• Gene name: DnaJ heat shock protein family (Hsp40) member B13
• Gene symbol: DNAJB13
• Synonyms (NCBI Gene): CILD34, RSPH16A, TSARG5, TSARG6
• Disease Acronyms (UniProt): CILD34
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein ass

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs754776389	T>C,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs775700619	G>A,C	Pathogenic	Genic upstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT706852	hsa-miR-216a-5p	HITS-CLIP	21572407
MIRT706851	hsa-miR-6760-3p	HITS-CLIP	21572407
MIRT706850	hsa-miR-1208	HITS-CLIP	21572407
MIRT706849	hsa-miR-6736-3p	HITS-CLIP	21572407
MIRT628738	hsa-miR-1304-3p	HITS-CLIP	21572407
MIRT706848	hsa-miR-6787-3p	HITS-CLIP	21572407
MIRT706847	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706846	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706845	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706844	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706842	hsa-miR-3652	HITS-CLIP	21572407
MIRT706843	hsa-miR-4430	HITS-CLIP	21572407
MIRT706841	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706840	hsa-miR-6726-3p	HITS-CLIP	21572407
MIRT706839	hsa-miR-5698	HITS-CLIP	21572407
MIRT684761	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684760	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684759	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684758	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684757	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684756	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684755	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684754	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684753	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684752	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684751	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684750	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684749	hsa-miR-302e	HITS-CLIP	23313552
MIRT684748	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684747	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684746	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684745	hsa-miR-520b	HITS-CLIP	23313552
MIRT684744	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684743	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684742	hsa-miR-520e	HITS-CLIP	23313552
MIRT684741	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684740	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684739	hsa-miR-520h	HITS-CLIP	23313552
MIRT684738	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684737	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT684736	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT684735	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684734	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684733	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT684761	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684760	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684759	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684758	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684757	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684756	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684755	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684754	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684753	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684752	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684751	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684750	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684749	hsa-miR-302e	HITS-CLIP	23313552
MIRT684748	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684747	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684746	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684745	hsa-miR-520b	HITS-CLIP	23313552
MIRT684744	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684743	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684742	hsa-miR-520e	HITS-CLIP	23313552
MIRT684741	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684740	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684739	hsa-miR-520h	HITS-CLIP	23313552
MIRT684738	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684737	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT684736	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT684735	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684734	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684733	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT628738	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT495789	hsa-miR-7109-3p	PAR-CLIP	22291592
MIRT495788	hsa-miR-1254	PAR-CLIP	22291592
MIRT495787	hsa-miR-3116	PAR-CLIP	22291592
MIRT706852	hsa-miR-216a-5p	HITS-CLIP	21572407
MIRT706851	hsa-miR-6760-3p	HITS-CLIP	21572407
MIRT706850	hsa-miR-1208	HITS-CLIP	21572407
MIRT706849	hsa-miR-6736-3p	HITS-CLIP	21572407
MIRT628738	hsa-miR-1304-3p	HITS-CLIP	21572407
MIRT706848	hsa-miR-6787-3p	HITS-CLIP	21572407
MIRT706847	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706846	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706845	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706844	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706842	hsa-miR-3652	HITS-CLIP	21572407
MIRT706843	hsa-miR-4430	HITS-CLIP	21572407
MIRT706841	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706840	hsa-miR-6726-3p	HITS-CLIP	21572407
MIRT706839	hsa-miR-5698	HITS-CLIP	21572407
MIRT684761	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684760	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684759	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684758	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684757	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684756	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684755	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684754	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684753	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684752	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684751	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684750	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684749	hsa-miR-302e	HITS-CLIP	23313552
MIRT684748	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684747	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684746	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684745	hsa-miR-520b	HITS-CLIP	23313552
MIRT684744	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684743	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684742	hsa-miR-520e	HITS-CLIP	23313552
MIRT684741	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684740	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684739	hsa-miR-520h	HITS-CLIP	23313552
MIRT684738	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684737	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT684736	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT684735	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684734	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684733	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT684761	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT684760	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT684759	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT684758	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT684757	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT684756	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT684755	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT684754	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT684753	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT684752	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT684751	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT684750	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT684749	hsa-miR-302e	HITS-CLIP	23313552
MIRT684748	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT684747	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT684746	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT684745	hsa-miR-520b	HITS-CLIP	23313552
MIRT684744	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT684743	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT684742	hsa-miR-520e	HITS-CLIP	23313552
MIRT684741	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT684740	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684739	hsa-miR-520h	HITS-CLIP	23313552
MIRT684738	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT684737	hsa-miR-1234-3p	HITS-CLIP	23313552
MIRT684736	hsa-miR-7107-5p	HITS-CLIP	23313552
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT684735	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT684734	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT684733	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT628738	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT626180	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT626179	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626178	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT626177	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626176	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626175	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT626174	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT626173	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT626172	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT626171	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626170	hsa-miR-4284	HITS-CLIP	23824327
MIRT626169	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT626168	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT626167	hsa-miR-8057	HITS-CLIP	23824327
MIRT495789	hsa-miR-7109-3p	PAR-CLIP	22291592
MIRT495788	hsa-miR-1254	PAR-CLIP	22291592
MIRT495787	hsa-miR-3116	PAR-CLIP	22291592
MIRT2386951	hsa-miR-1908	CLIP-seq
MIRT2386952	hsa-miR-342-5p	CLIP-seq
MIRT2386953	hsa-miR-4316	CLIP-seq
MIRT2386954	hsa-miR-4651	CLIP-seq
MIRT2386955	hsa-miR-4664-5p	CLIP-seq
MIRT2386956	hsa-miR-4710	CLIP-seq
MIRT2386957	hsa-miR-608	CLIP-seq
MIRT2386958	hsa-miR-663	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21994455, 32296183
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005930	Component	Axoneme	IEA
GO:0031514	Component	Motile cilium	IDA	27486783
GO:0036126	Component	Sperm flagellum	IDA	27486783
GO:0051082	Function	Unfolded protein binding	IBA	21873635
GO:0051085	Process	Chaperone cofactor-dependent protein refolding	IBA	21873635
GO:0051087	Function	Chaperone binding	IBA	21873635
GO:0097224	Component	Sperm connecting piece	ISS
GO:1904158	Process	Axonemal central apparatus assembly	IMP	27486783

Other IDs

• MIM: 610263
• HGNC: 30718
• e!Ensembl: ENSG00000187726

Protein

• UniProt ID: P59910
• Protein name: DnaJ homolog subfamily B member 13 (Testis and spermatogenesis cell-related protein 6) (Testis spermatocyte apoptosis-related gene 6 protein) (Testis spermatogenesis apoptosis-related gene 3 protein) (Testis spermatogenesis apoptosis-related gene 6 protei
• Protein function: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	4 → 65	DnaJ domain	Domain
  PF01556	DnaJ_C	140 → 299	DnaJ C terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in testis and trachea. {ECO:0000269|PubMed:27486783}.
• Sequence:

  MGQDYYSVLGITRNSEDAQIKQAYRRLALKHHPLKSNEPSSAEIFRQIAEAYDVLSDPMK
  RGIYDKFGEEGLKGGIPLEFGSQTPWTTGYVFHGKPEKVFHEFFGGNNPFSEFFDAEGSE
  VDLNFGGLQGRGVKKQDPQVERDLYLSLEDLFFGCTKKIKISRRVLNEDGYSSTIKDKIL
  TIDVKPGWRQGTRITFEKEGDQGPNIIPADIIFIVKEKLHPRFRRENDNLFFVNPIPLGK
  ALTCCTVEVRTLDDRLLNIPINDIIHPKYFKKVPGEGMPLPEDPTKKGDLFIFFDIQFPT
  RLTPQKKQMLRQALLT

• Sequence length: 316

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Ciliary dyskinesia	CILIARY DYSKINESIA, PRIMARY, 34, Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia	rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450, rs121908854, rs121908855, rs1554294478, rs79967166, rs121908853, rs1580543863, rs62642057, rs62638634, rs137852549, rs606231180, rs606231181, rs387907021, rs397515392, rs397515393, rs387907092, rs387907093, rs387907151, rs387907152, rs397515395, rs587776910, rs145457535, rs368260932, rs147718607, rs606231238, rs606231239, rs201133219, rs606231240, rs672601333, rs751785066, rs397514561, rs397515413, rs397515414, rs397515424, rs141945265, rs397515425, rs200321595, rs312262868, rs587776997, rs142371860, rs373501414, rs397515540, rs397515541, rs397515563, rs587778819, rs587778820, rs587778821, rs587778822, rs138815960, rs587777043, rs587777044, rs397515460, rs587777045, rs200913791, rs397515461, rs587777047, rs587777048, rs587777049, rs138320978, rs587777058, rs587777059, rs151107532, rs397518455, rs397518456, rs397515340, rs397515488, rs397515621, rs397515622, rs397518458, rs201740530, rs886037653, rs863223325, rs143740376, rs398122401, rs869320683, rs398122960, rs369037463, rs398123336, rs281865301, rs62635001, rs62635002, rs62653029, rs281865304, rs281865296, rs62635010, rs62635009, rs62635011, rs62635013, rs62650215, rs62638627, rs62638626, rs62638639, rs62638642, rs281865297, rs62650216, rs62638652, rs62638655, rs62640586, rs62640588, rs62640592, rs281865295, rs587777199, rs587777498, rs587777499, rs587777500, rs587777501, rs587777502, rs587777503, rs587777635, rs587777780, rs727502975, rs727502971, rs727504802, rs727502977, rs727504815, rs727503394, rs730882261, rs780175755, rs769054713, rs374909386, rs796052117, rs796052118, rs875989825, rs796052119, rs797045086, rs797045085, rs797044945, rs397515341, rs544674332, rs771663107, rs797045152, rs797045151, rs777031813, rs142800871, rs760123202, rs145742175, rs202094637, rs863224531, rs756235547, rs863224503, rs769458738, rs863224504, rs754867753, rs863224519, rs771214648, rs748688175, rs755553133, rs566755911, rs779506456, rs748618094, rs148891849, rs864622512, rs762664261, rs1060501460, rs753614861, rs72657316, rs200693106, rs876657683, rs876657637, rs752924362, rs750708201, rs878855279, rs773801386, rs878855280, rs571919972, rs755407407, rs775946081, rs755596256, rs878854458, rs878854457, rs762081081, rs144711161, rs878854441, rs72657321, rs757013900, rs878854444, rs878854445, rs878854446, rs72657393, rs878854435, rs878854436, rs1554294459, rs878855036, rs878854968, rs769284314, rs200669099, rs878855078, rs878855041, rs878855042, rs879253744, rs201213030, rs771920114, rs868755574, rs754776389, rs775700619, rs886037888, rs886037889, rs886039500, rs886039340, rs769346541, rs886041376, rs753101269, rs886042735, rs886044152, rs201943194, rs886044302, rs775696136, rs78484669, rs773498002, rs138890576, rs577069249, rs587621539, rs200901816, rs1060501456, rs773711154, rs752925056, rs1554020233, rs1060501464, rs769691189, rs767019228, rs1060501461, rs1060501467, rs1060501455, rs1060501459, rs1060501457, rs1060501466, rs1060501458, rs775051461, rs1060501454, rs781469274, rs759059925, rs766256391, rs1060503056, rs1060503063, rs1060503388, rs371374918, rs1060503107, rs144405450, rs752479330, rs1060503041, rs774903187, rs1060503104, rs763569711, rs1060503495, rs1060503515, rs752795172, rs1060501178, rs372572996, rs902156961, rs1060502829, rs1060503433, rs1060502202, rs200708870, rs775299709, rs370706991, rs141581673, rs774081599, rs757536895, rs756430359, rs770143722, rs1064792947, rs1060501861, rs1060500990, rs1060502831, rs372166228, rs1060501181, rs1060500123, rs772219642, rs1064795496, rs1064794014, rs575017579, rs1555354198, rs779490893, rs1555961832, rs1555961852, rs1555964133, rs768986129, rs1355068287, rs751845138, rs745800344, rs1553800956, rs1210953680, rs1007345781, rs1553805885, rs1553803540, rs1553804209, rs1553804640, rs746049858, rs1554049087, rs1554058577, rs1474945018, rs1554074565, rs753397685, rs754698253, rs1554033855, rs1353723750, rs763440781, rs367877988, rs747900131, rs749082955, rs1554062097, rs1554090622, rs1554090927, rs767716511, rs1554017211, rs753130398, rs745918507, rs1273352530, rs1354919632, rs368644722, rs1161303371, rs1283070426, rs755136231, rs1443540935, rs548521732, rs989235687, rs776686983, rs1554101045, rs116128702, rs1554132747, rs376576474, rs775136764, rs1034327724, rs902750903, rs750528020, rs753496815, rs771781357, rs1261703349, rs765025514, rs1554309352, rs1286036654, rs72657333, rs1554269295, rs373844629, rs767595964, rs1554293484, rs775720394, rs1212535211, rs1162526607, rs769637393, rs1554312483, rs1164659091, rs1275718084, rs202236144, rs972753865, rs147811057, rs1554248794, rs1554248887, rs950490534, rs1554291973, rs1275662909, rs1229952265, rs1554255966, rs1465404366, rs1409069267, rs1555174708, rs777108430, rs1555328022, rs1555328130, rs1555328047, rs758650222, rs1555526915, rs746242380, rs1555519999, rs762843285, rs758109864, rs1555614910, rs751191119, rs756868374, rs773796940, rs1555875358, rs556286752, rs1186608353, rs1555723797, rs745465871, rs773208371, rs745993158, rs1554082275, rs1555961677, rs1349668884, rs751610886, rs376496894, rs1554292398, rs1555327917, rs375053470, rs981267400, rs1555721837, rs769795916, rs1462578042, rs146412095, rs1553804220, rs1415346246, rs1553805740, rs1553804100, rs1275367324, rs886059965, rs1554081658, rs754982008, rs1554035330, rs1554050517, rs1554072027, rs756032160, rs77377082, rs79185772, rs775866092, rs1304504006, rs1193586811, rs1554082872, rs768881056, rs1554019966, rs1554247978, rs774393276, rs1554248617, rs766707325, rs756868889, rs1554249521, rs1437893220, rs770372463, rs749731714, rs1233811324, rs1554281038, rs757784023, rs551275210, rs750603177, rs769220870, rs1380083184, rs1554282583, rs763900107, rs769224534, rs747121305, rs1554822213, rs1555328087, rs1555327928, rs1233603821, rs745495583, rs1555527001, rs897911822, rs780116486, rs1421531868, rs746361802, rs1555968248, rs144037391, rs1305797678, rs1555071691, rs561237622, rs767760877, rs754773453, rs1555069023, rs372118787, rs774493427, rs1569237206, rs1560079213, rs1560086701, rs1560092440, rs1370489117, rs1561097225, rs914675446, rs748171209, rs1188507108, rs1561487416, rs1561073938, rs769691641, rs1561215953, rs1175877764, rs146087064, rs1561532139, rs574586008, rs1561117442, rs1444391928, rs145974361, rs1561836628, rs376903331, rs769929539, rs1436804091, rs1285431486, rs180897552, rs1562590250, rs1562684798, rs374107286, rs1562521048, rs1175443221, rs1563815206, rs753580394, rs1560090006, rs1560092160, rs778577109, rs1561122898, rs745885469, rs1561477725, rs757801770, rs1561524235, rs771956532, rs1391084505, rs769267893, rs1297857806, rs751920647, rs755782051, rs756616538, rs767713588, rs1297261096, rs768447289, rs374718437, rs1484826593, rs1561241156, rs769544175, rs565076112, rs1158185476, rs776176679, rs1562782355, rs1223799853, rs776791493, rs368248592, rs753649614, rs148810969, rs1346603171, rs371595543, rs1418585908, rs1567818236, rs761851970, rs748869874, rs766394527, rs753915759, rs1159887305, rs770403610, rs1240172375, rs764011276, rs770946088, rs764551914, rs1480671731, rs1568667609, rs1568709952, rs747233125, rs750658321, rs543369426, rs1569122408, rs1561449604, rs750649191, rs1564805053, rs1564805039, rs372959912, rs1564800859, rs577714887, rs766482965, rs1267599270, rs763238622, rs143007518, rs1567808990, rs969193071, rs867177356, rs1569162748, rs1561476089, rs377691013, rs1309805676, rs1569237077, rs1327282449, rs767308949, rs139416233, rs1567819753, rs1448501611, rs748600370, rs1601943268, rs750136163, rs1576941580, rs1256848235, rs747980515, rs1245822059, rs760742856, rs1579881985, rs762673561, rs1579942226, rs1579942510, rs1579980919, rs1580072662, rs369683202, rs1580150353, rs764948792, rs760595654, rs1580180757, rs1580203399, rs560398270, rs1309660408, rs981622980, rs1580363231, rs1580457416, rs767779749, rs116524991, rs1580543538, rs1580578744, rs1221785647, rs1252973555, rs1580809557, rs778780449, rs1164037667, rs1580853061, rs1580412021, rs1398588555, rs1561121987, rs753041231, rs748664881, rs1400425886, rs760122351, rs757935663, rs149070832, rs747123680, rs1582373132, rs1554149875, rs559143773, rs1583508118, rs949492765, rs1583567611, rs373946181, rs1237605731, rs756115857, rs1583806864, rs761855200, rs759332741, rs1489856215, rs201507046, rs1583517442, rs770251775, rs1586586381, rs369669370, rs1588663203, rs776979382, rs1003676784, rs1594608287, rs1489377964, rs1598330492, rs1598342751, rs755004291, rs1278589861, rs1277185772, rs763874734, rs753105954, rs373312648, rs369312501, rs1580179985, rs1580411207, rs1580465796, rs1579894454, rs1580143916, rs1582865345, rs200115379, rs372080325, rs1583570354, rs1583647043, rs72657354, rs767624733, rs1587089935, rs1587067513, rs1587091911, rs746849797, rs1598278059, rs1580731750, rs368110732, rs1597843267, rs1598348312, rs1217845018, rs1598372830, rs1598372841, rs1598372878, rs1598372791, rs1580402818, rs752527657, rs1601917999, rs1601922202, rs1601961064, rs1601982532, rs759302236, rs1597643228, rs1598293348, rs1601918140, rs745839898, rs1555961440, rs1601920423, rs907856232, rs281865302, rs1601972255, rs1601931052, rs1745570250, rs149368374, rs1601943325, rs1253689023, rs1575588483, rs1575215909, rs766982731, rs782603932, rs201244916, rs781864891, rs372955658, rs758482424, rs1601920532, rs1601924055, rs1601982474, rs1663812465, rs757823891, rs771057685, rs1711717951, rs1743041017, rs1744302993, rs1744309029, rs1744699899, rs1750171365, rs1750339039, rs1751962280, rs1752478598, rs1561215326, rs1264701182, rs1754234425, rs1465499923, rs1762460445, rs1762470883, rs148139814, rs760081822, rs1772369775, rs189080233, rs1778379197, rs1291689114, rs1176911729, rs769899297, rs1745583820, rs757303224, rs762267064, rs1416631904, rs749372718, rs72655998, rs756850884, rs765778415, rs1479385947, rs72658823, rs1162823375, rs370565524, rs746849639, rs973819096, rs1818211696, rs979934112, rs772133192, rs2051792816, rs2053367000, rs1567876609, rs2038617610, rs2085791151, rs770306950, rs2067876063, rs1468349011, rs1815572053, rs1268770869, rs1360420006, rs1772232595, rs774855011, rs1785786687, rs1788083949, rs2051550027, rs2037540861, rs753831132, rs937290981, rs766759197, rs1336208372, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067140471, rs2067144007, rs2067146007, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067172824, rs2067174697, rs1233849070, rs2067182354, rs2067182636, rs2067184023, rs2067187127, rs2067187618, rs2067188031, rs2067191335, rs2067193056, rs2067194648, rs2067406342, rs2067451355, rs2067700774, rs2067878321, rs2067878443, rs1718119792, rs1704217868, rs1704650728, rs1273109738, rs1768634470, rs1769225531, rs1298746949, rs1784195520, rs1788086604, rs1789346276, rs2058179740, rs2038565518, rs781949585, rs2038760864, rs1718195095, rs1783569129, rs1739374011, rs2082305577, rs2067148119, rs2067166789, rs2067172385, rs2067179633, rs2067200470, rs2067498092, rs771953930	27486783
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Kartagener syndrome	Kartagener Syndrome, Polynesian Bronchiectasis	rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532, rs201740530, rs869320683, rs587777780, rs587778819, rs397515341, rs544674332, rs771663107, rs760123202, rs876657683, rs769284314, rs200669099, rs1060503515, rs773208371, rs745993158, rs1554082275, rs751920647, rs368248592	27486783
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			ClinVar
Otitis media	Otitis Media with Effusion, Chronic otitis media			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Asthenozoospermia	Associate	31342671
Bovine Respiratory Disease Complex	Associate	27486783
Ciliary Motility Disorders	Associate	27486783
Infertility Male	Associate	27486783