DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23317
• Gene name: DnaJ heat shock protein family (Hsp40) member C13
• Gene symbol: DNAJC13
• Synonyms (NCBI Gene): PARK21, RME8
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748101	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387907571	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (286)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017913	hsa-miR-335-5p	Microarray	18185580
MIRT044293	hsa-miR-106b-5p	CLASH	23622248
MIRT940581	hsa-miR-1	CLIP-seq
MIRT940582	hsa-miR-1183	CLIP-seq
MIRT940583	hsa-miR-1207-3p	CLIP-seq
MIRT940584	hsa-miR-128	CLIP-seq
MIRT940585	hsa-miR-1343	CLIP-seq
MIRT940586	hsa-miR-139-5p	CLIP-seq
MIRT940587	hsa-miR-206	CLIP-seq
MIRT940588	hsa-miR-2110	CLIP-seq
MIRT940589	hsa-miR-2682	CLIP-seq
MIRT940590	hsa-miR-27a	CLIP-seq
MIRT940591	hsa-miR-27b	CLIP-seq
MIRT940592	hsa-miR-3074-5p	CLIP-seq
MIRT940593	hsa-miR-30a	CLIP-seq
MIRT940594	hsa-miR-30b	CLIP-seq
MIRT940595	hsa-miR-30c	CLIP-seq
MIRT940596	hsa-miR-30d	CLIP-seq
MIRT940597	hsa-miR-30e	CLIP-seq
MIRT940598	hsa-miR-3124-3p	CLIP-seq
MIRT940599	hsa-miR-3135b	CLIP-seq
MIRT940600	hsa-miR-3136-5p	CLIP-seq
MIRT940601	hsa-miR-3137	CLIP-seq
MIRT940602	hsa-miR-3146	CLIP-seq
MIRT940603	hsa-miR-3164	CLIP-seq
MIRT940604	hsa-miR-3609	CLIP-seq
MIRT940605	hsa-miR-3714	CLIP-seq
MIRT940606	hsa-miR-3913-3p	CLIP-seq
MIRT940607	hsa-miR-3924	CLIP-seq
MIRT940608	hsa-miR-3977	CLIP-seq
MIRT940609	hsa-miR-4271	CLIP-seq
MIRT940610	hsa-miR-4282	CLIP-seq
MIRT940611	hsa-miR-4328	CLIP-seq
MIRT940612	hsa-miR-4439	CLIP-seq
MIRT940613	hsa-miR-4491	CLIP-seq
MIRT940614	hsa-miR-449c	CLIP-seq
MIRT940615	hsa-miR-4643	CLIP-seq
MIRT940616	hsa-miR-4657	CLIP-seq
MIRT940617	hsa-miR-466	CLIP-seq
MIRT940618	hsa-miR-4667-5p	CLIP-seq
MIRT940619	hsa-miR-4668-5p	CLIP-seq
MIRT940620	hsa-miR-4700-5p	CLIP-seq
MIRT940621	hsa-miR-4725-3p	CLIP-seq
MIRT940622	hsa-miR-4768-3p	CLIP-seq
MIRT940623	hsa-miR-4789-3p	CLIP-seq
MIRT940624	hsa-miR-489	CLIP-seq
MIRT940625	hsa-miR-511	CLIP-seq
MIRT940626	hsa-miR-513a-5p	CLIP-seq
MIRT940627	hsa-miR-548ah	CLIP-seq
MIRT940628	hsa-miR-548an	CLIP-seq
MIRT940629	hsa-miR-548t	CLIP-seq
MIRT940630	hsa-miR-590-3p	CLIP-seq
MIRT940631	hsa-miR-613	CLIP-seq
MIRT940632	hsa-miR-653	CLIP-seq
MIRT940633	hsa-miR-665	CLIP-seq
MIRT940634	hsa-miR-765	CLIP-seq
MIRT940635	hsa-miR-943	CLIP-seq
MIRT940636	hsa-miR-95	CLIP-seq
MIRT1978146	hsa-miR-1185	CLIP-seq
MIRT1978147	hsa-miR-1224-5p	CLIP-seq
MIRT1978148	hsa-miR-141	CLIP-seq
MIRT1978149	hsa-miR-193a-3p	CLIP-seq
MIRT1978150	hsa-miR-193b	CLIP-seq
MIRT1978151	hsa-miR-200a	CLIP-seq
MIRT940589	hsa-miR-2682	CLIP-seq
MIRT1978152	hsa-miR-3176	CLIP-seq
MIRT1978153	hsa-miR-3179	CLIP-seq
MIRT1978154	hsa-miR-3605-5p	CLIP-seq
MIRT1978155	hsa-miR-3615	CLIP-seq
MIRT1978156	hsa-miR-3679-5p	CLIP-seq
MIRT940605	hsa-miR-3714	CLIP-seq
MIRT1978157	hsa-miR-3915	CLIP-seq
MIRT1978158	hsa-miR-3922-3p	CLIP-seq
MIRT940614	hsa-miR-449c	CLIP-seq
MIRT1978159	hsa-miR-4689	CLIP-seq
MIRT940622	hsa-miR-4768-3p	CLIP-seq
MIRT940628	hsa-miR-548an	CLIP-seq
MIRT1978160	hsa-miR-593	CLIP-seq
MIRT940633	hsa-miR-665	CLIP-seq
MIRT940581	hsa-miR-1	CLIP-seq
MIRT940582	hsa-miR-1183	CLIP-seq
MIRT1978146	hsa-miR-1185	CLIP-seq
MIRT940583	hsa-miR-1207-3p	CLIP-seq
MIRT1978147	hsa-miR-1224-5p	CLIP-seq
MIRT2213662	hsa-miR-1271	CLIP-seq
MIRT940584	hsa-miR-128	CLIP-seq
MIRT940585	hsa-miR-1343	CLIP-seq
MIRT1978148	hsa-miR-141	CLIP-seq
MIRT2213663	hsa-miR-142-5p	CLIP-seq
MIRT2213664	hsa-miR-1909	CLIP-seq
MIRT1978149	hsa-miR-193a-3p	CLIP-seq
MIRT1978150	hsa-miR-193b	CLIP-seq
MIRT1978151	hsa-miR-200a	CLIP-seq
MIRT940587	hsa-miR-206	CLIP-seq
MIRT940588	hsa-miR-2110	CLIP-seq
MIRT2213665	hsa-miR-218	CLIP-seq
MIRT940589	hsa-miR-2682	CLIP-seq
MIRT940590	hsa-miR-27a	CLIP-seq
MIRT940591	hsa-miR-27b	CLIP-seq
MIRT940592	hsa-miR-3074-5p	CLIP-seq
MIRT940593	hsa-miR-30a	CLIP-seq
MIRT940594	hsa-miR-30b	CLIP-seq
MIRT940595	hsa-miR-30c	CLIP-seq
MIRT940596	hsa-miR-30d	CLIP-seq
MIRT940597	hsa-miR-30e	CLIP-seq
MIRT940598	hsa-miR-3124-3p	CLIP-seq
MIRT940599	hsa-miR-3135b	CLIP-seq
MIRT940600	hsa-miR-3136-5p	CLIP-seq
MIRT940601	hsa-miR-3137	CLIP-seq
MIRT2213666	hsa-miR-3138	CLIP-seq
MIRT2213667	hsa-miR-3160-5p	CLIP-seq
MIRT940603	hsa-miR-3164	CLIP-seq
MIRT1978152	hsa-miR-3176	CLIP-seq
MIRT2213668	hsa-miR-3177-5p	CLIP-seq
MIRT1978153	hsa-miR-3179	CLIP-seq
MIRT2213669	hsa-miR-330-3p	CLIP-seq
MIRT2213670	hsa-miR-340	CLIP-seq
MIRT1978154	hsa-miR-3605-5p	CLIP-seq
MIRT940604	hsa-miR-3609	CLIP-seq
MIRT1978155	hsa-miR-3615	CLIP-seq
MIRT1978156	hsa-miR-3679-5p	CLIP-seq
MIRT2213671	hsa-miR-3689a-5p	CLIP-seq
MIRT2213672	hsa-miR-3689b	CLIP-seq
MIRT2213673	hsa-miR-3689e	CLIP-seq
MIRT2213674	hsa-miR-3689f	CLIP-seq
MIRT940605	hsa-miR-3714	CLIP-seq
MIRT2213675	hsa-miR-374a	CLIP-seq
MIRT2213676	hsa-miR-374b	CLIP-seq
MIRT1978157	hsa-miR-3915	CLIP-seq
MIRT1978158	hsa-miR-3922-3p	CLIP-seq
MIRT2213677	hsa-miR-3938	CLIP-seq
MIRT2213678	hsa-miR-3942-3p	CLIP-seq
MIRT940608	hsa-miR-3977	CLIP-seq
MIRT940609	hsa-miR-4271	CLIP-seq
MIRT2213679	hsa-miR-4274	CLIP-seq
MIRT2213680	hsa-miR-4318	CLIP-seq
MIRT940611	hsa-miR-4328	CLIP-seq
MIRT2213681	hsa-miR-4420	CLIP-seq
MIRT940612	hsa-miR-4439	CLIP-seq
MIRT940613	hsa-miR-4491	CLIP-seq
MIRT940614	hsa-miR-449c	CLIP-seq
MIRT940616	hsa-miR-4657	CLIP-seq
MIRT2213682	hsa-miR-4661-3p	CLIP-seq
MIRT2213683	hsa-miR-4666-3p	CLIP-seq
MIRT940618	hsa-miR-4667-5p	CLIP-seq
MIRT940619	hsa-miR-4668-5p	CLIP-seq
MIRT2213684	hsa-miR-4676-5p	CLIP-seq
MIRT2213685	hsa-miR-4677-3p	CLIP-seq
MIRT1978159	hsa-miR-4689	CLIP-seq
MIRT2213686	hsa-miR-4693-5p	CLIP-seq
MIRT940620	hsa-miR-4700-5p	CLIP-seq
MIRT940621	hsa-miR-4725-3p	CLIP-seq
MIRT940622	hsa-miR-4768-3p	CLIP-seq
MIRT2213687	hsa-miR-4771	CLIP-seq
MIRT2213688	hsa-miR-4789-5p	CLIP-seq
MIRT2213689	hsa-miR-4797-5p	CLIP-seq
MIRT2213690	hsa-miR-4800-5p	CLIP-seq
MIRT2213691	hsa-miR-495	CLIP-seq
MIRT2213692	hsa-miR-499a-5p	CLIP-seq
MIRT940625	hsa-miR-511	CLIP-seq
MIRT940626	hsa-miR-513a-5p	CLIP-seq
MIRT2213693	hsa-miR-520f	CLIP-seq
MIRT940627	hsa-miR-548ah	CLIP-seq
MIRT940628	hsa-miR-548an	CLIP-seq
MIRT940629	hsa-miR-548t	CLIP-seq
MIRT2213694	hsa-miR-561	CLIP-seq
MIRT2213695	hsa-miR-569	CLIP-seq
MIRT2213696	hsa-miR-575	CLIP-seq
MIRT1978160	hsa-miR-593	CLIP-seq
MIRT940631	hsa-miR-613	CLIP-seq
MIRT2213697	hsa-miR-633	CLIP-seq
MIRT2213698	hsa-miR-636	CLIP-seq
MIRT2213699	hsa-miR-640	CLIP-seq
MIRT2213700	hsa-miR-651	CLIP-seq
MIRT940632	hsa-miR-653	CLIP-seq
MIRT940633	hsa-miR-665	CLIP-seq
MIRT2213701	hsa-miR-759	CLIP-seq
MIRT940634	hsa-miR-765	CLIP-seq
MIRT2213702	hsa-miR-892a	CLIP-seq
MIRT940635	hsa-miR-943	CLIP-seq
MIRT940636	hsa-miR-95	CLIP-seq
MIRT2213703	hsa-miR-96	CLIP-seq
MIRT940581	hsa-miR-1	CLIP-seq
MIRT940583	hsa-miR-1207-3p	CLIP-seq
MIRT940587	hsa-miR-206	CLIP-seq
MIRT940599	hsa-miR-3135b	CLIP-seq
MIRT2213666	hsa-miR-3138	CLIP-seq
MIRT940613	hsa-miR-4491	CLIP-seq
MIRT940616	hsa-miR-4657	CLIP-seq
MIRT2213690	hsa-miR-4800-5p	CLIP-seq
MIRT940631	hsa-miR-613	CLIP-seq
MIRT940634	hsa-miR-765	CLIP-seq
MIRT940636	hsa-miR-95	CLIP-seq
MIRT2428323	hsa-miR-129-5p	CLIP-seq
MIRT2428324	hsa-miR-1298	CLIP-seq
MIRT2428325	hsa-miR-4448	CLIP-seq
MIRT2428326	hsa-miR-450b-5p	CLIP-seq
MIRT2428327	hsa-miR-507	CLIP-seq
MIRT2428328	hsa-miR-513a-3p	CLIP-seq
MIRT2428329	hsa-miR-557	CLIP-seq
MIRT2428323	hsa-miR-129-5p	CLIP-seq
MIRT2428324	hsa-miR-1298	CLIP-seq
MIRT2428325	hsa-miR-4448	CLIP-seq
MIRT2428326	hsa-miR-450b-5p	CLIP-seq
MIRT2428327	hsa-miR-507	CLIP-seq
MIRT2428329	hsa-miR-557	CLIP-seq
MIRT940585	hsa-miR-1343	CLIP-seq
MIRT940588	hsa-miR-2110	CLIP-seq
MIRT940592	hsa-miR-3074-5p	CLIP-seq
MIRT940598	hsa-miR-3124-3p	CLIP-seq
MIRT940603	hsa-miR-3164	CLIP-seq
MIRT940604	hsa-miR-3609	CLIP-seq
MIRT940609	hsa-miR-4271	CLIP-seq
MIRT940618	hsa-miR-4667-5p	CLIP-seq
MIRT940619	hsa-miR-4668-5p	CLIP-seq
MIRT940620	hsa-miR-4700-5p	CLIP-seq
MIRT940621	hsa-miR-4725-3p	CLIP-seq
MIRT940627	hsa-miR-548ah	CLIP-seq
MIRT940629	hsa-miR-548t	CLIP-seq
MIRT940581	hsa-miR-1	CLIP-seq
MIRT940582	hsa-miR-1183	CLIP-seq
MIRT2213662	hsa-miR-1271	CLIP-seq
MIRT940586	hsa-miR-139-5p	CLIP-seq
MIRT1978148	hsa-miR-141	CLIP-seq
MIRT1978151	hsa-miR-200a	CLIP-seq
MIRT940587	hsa-miR-206	CLIP-seq
MIRT940589	hsa-miR-2682	CLIP-seq
MIRT940600	hsa-miR-3136-5p	CLIP-seq
MIRT940601	hsa-miR-3137	CLIP-seq
MIRT2213666	hsa-miR-3138	CLIP-seq
MIRT940602	hsa-miR-3146	CLIP-seq
MIRT2517549	hsa-miR-3613-3p	CLIP-seq
MIRT940605	hsa-miR-3714	CLIP-seq
MIRT940608	hsa-miR-3977	CLIP-seq
MIRT940612	hsa-miR-4439	CLIP-seq
MIRT2517550	hsa-miR-4476	CLIP-seq
MIRT940613	hsa-miR-4491	CLIP-seq
MIRT940614	hsa-miR-449c	CLIP-seq
MIRT940616	hsa-miR-4657	CLIP-seq
MIRT940622	hsa-miR-4768-3p	CLIP-seq
MIRT2213690	hsa-miR-4800-5p	CLIP-seq
MIRT940625	hsa-miR-511	CLIP-seq
MIRT2517551	hsa-miR-520d-5p	CLIP-seq
MIRT2517552	hsa-miR-524-5p	CLIP-seq
MIRT2517553	hsa-miR-548ae	CLIP-seq
MIRT2517554	hsa-miR-548aj	CLIP-seq
MIRT2517555	hsa-miR-548am	CLIP-seq
MIRT940628	hsa-miR-548an	CLIP-seq
MIRT2517556	hsa-miR-548x	CLIP-seq
MIRT2213694	hsa-miR-561	CLIP-seq
MIRT940631	hsa-miR-613	CLIP-seq
MIRT940632	hsa-miR-653	CLIP-seq
MIRT940633	hsa-miR-665	CLIP-seq
MIRT940634	hsa-miR-765	CLIP-seq
MIRT940635	hsa-miR-943	CLIP-seq
MIRT2213703	hsa-miR-96	CLIP-seq
MIRT940582	hsa-miR-1183	CLIP-seq
MIRT940583	hsa-miR-1207-3p	CLIP-seq
MIRT940586	hsa-miR-139-5p	CLIP-seq
MIRT1978148	hsa-miR-141	CLIP-seq
MIRT1978151	hsa-miR-200a	CLIP-seq
MIRT940589	hsa-miR-2682	CLIP-seq
MIRT940599	hsa-miR-3135b	CLIP-seq
MIRT940600	hsa-miR-3136-5p	CLIP-seq
MIRT940601	hsa-miR-3137	CLIP-seq
MIRT940602	hsa-miR-3146	CLIP-seq
MIRT2517549	hsa-miR-3613-3p	CLIP-seq
MIRT940605	hsa-miR-3714	CLIP-seq
MIRT940608	hsa-miR-3977	CLIP-seq
MIRT940612	hsa-miR-4439	CLIP-seq
MIRT2517550	hsa-miR-4476	CLIP-seq
MIRT940614	hsa-miR-449c	CLIP-seq
MIRT940622	hsa-miR-4768-3p	CLIP-seq
MIRT2517551	hsa-miR-520d-5p	CLIP-seq
MIRT2517552	hsa-miR-524-5p	CLIP-seq
MIRT2517553	hsa-miR-548ae	CLIP-seq
MIRT2517554	hsa-miR-548aj	CLIP-seq
MIRT2517555	hsa-miR-548am	CLIP-seq
MIRT940628	hsa-miR-548an	CLIP-seq
MIRT2517556	hsa-miR-548x	CLIP-seq
MIRT2213694	hsa-miR-561	CLIP-seq
MIRT940632	hsa-miR-653	CLIP-seq
MIRT940633	hsa-miR-665	CLIP-seq
MIRT940634	hsa-miR-765	CLIP-seq
MIRT940635	hsa-miR-943	CLIP-seq
MIRT940636	hsa-miR-95	CLIP-seq

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0005515	Function	Protein binding	IPI	24643499, 28514442, 33961781
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006898	Process	Receptor-mediated endocytosis	IBA
GO:0007032	Process	Endosome organization	IEA
GO:0007032	Process	Endosome organization	IMP	24643499
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	24643499
GO:0010008	Component	Endosome membrane	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016020	Component	Membrane	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031901	Component	Early endosome membrane	IDA	18256511
GO:0031901	Component	Early endosome membrane	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071203	Component	WASH complex	IDA	24643499
GO:1902954	Process	Regulation of early endosome to recycling endosome transport	IMP	18256511
GO:2000641	Process	Regulation of early endosome to late endosome transport	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	IMP	18256511

Other IDs

• MIM: 614334
• HGNC: 30343
• e!Ensembl: ENSG00000138246

Protein

• UniProt ID: O75165
• Protein name: DnaJ homolog subfamily C member 13 (Required for receptor-mediated endocytosis 8) (RME-8)
• Protein function: Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF an
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	1301 → 1360	DnaJ domain	Domain
  PF14237	GYF_2	976 → 1026	GYF domain 2	Domain

• Sequence:

  MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAITTYNPNTLEVTNQWPYGDICSISPV
  GKGQGTEFNLTFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFSEGKITGRRYNCYKHH
  WSDSRKPVILEVTPGGFDQINPATNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLH
  LFASEQREEIIKSAIDHAGNYIGISLRIRKEPLEFEQYLNLRFGKYSTDESITSLAEFVV
  QKISPRHSEPVKRVLALTETCLVERDPATYNIATLKPLGEVFALVCDSENPQLFTIEFIK
  GQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMTPTHKGQRWGLLSMPVDEEVESLHLR
  FLATPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVA
  SNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGVKVVKALKRSNNGIIHAAVDMLCA
  LMCPMHDDYDLRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALC
  APYSETTEGQQFDMLLEMVASNGRTLFKLFQHPSMAIIKGAGLVMKAIIEEGDKEIATKM
  QELALSEGALPRHLHTAMFTISSDQRMLTNRQLSRHLVGLWTADNATATNLLKRILPPGL
  LAYLESSDLVPEKDADRMHVRDNVKIAMDQYGKFNKVPEWQRLAGKAAKEVEKFAKEKVD
  LVLMHWRDRMGIAQKENINQKPVVLRKRRQRIKIEANWDLFYYRFGQDHARSNLIWNFKT
  REELKDTLESEMRAFNIDRELGSANVISWNHHEFEVKYECLAEEIKIGDYYLRLLLEEDE
  NEESGSIKRSYEFFNELYHRFLLTPKVNMKCLCLQALAIVYGRCHEEIGPFTDTRYIIGM
  LERCTDKLERDRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSN
  VIEAAPDMKRESEKEWYFGNADKERSGPYGFHEMQELWTKGMLNAKTRCWAQGMDGWRPL
  QSIPQLKWCLLASGQAVLNETDLATLILNMLITMCGYFPSRDQDNAIIRPLPKVKRLLSD
  STCLPHIIQLLLTFDPILVEKVAILLYHIMQDNPQLPRLYLSGVFFFIMMYTGSNVLPVA
  RFLKYTHTKQAFKSEETKGQDIFQRSILGHILPEAMVCYLENYEPEKFSEIFLGEFDTPE
  AIWSSEMRRLMIEKIAAHLADFTPRLQSNTRALYQYCPIPIINYPQLENELFCNIYYLKQ
  LCDTLRFPDWPIKDPVKLLKDTLDAWKKEVEKKPPMMSIDDAYEVLNLPQGQGPHDESKI
  RKAYFRLAQKYHPDKNPEGRDMFEKVNKAYEFLCTKSAKIVDGPDPENIILILKTQSILF
  NRHKEDLQPYKYAGYPMLIRTITMETSDDLLFSKESPLLPAATELAFHTVNCSALNAEEL
  RRENGLEVLQEAFSRCVAVLTRASKPSDMSVQVCGYISKCYSVAAQFEECREKITEMPSI
  IKDLCRVLYFGKSIPRVAALGVECVSSFAVDFWLQTHLFQAGILWYLLGFLFNYDYTLEE
  SGIQKSEETNQQEVANSLAKLSVHALSRLGGYLAEEQATPENPTIRKSLAGMLTPYVARK
  LAVASVTEILKMLNSNTESPYLIWNNSTRAELLEFLESQQENMIKKGDCDKTYGSEFVYS
  DHAKELIVGEIFVRVYNEVPTFQLEVPKAFAASLLDYIGSQAQYLHTFMAITHAAKVESE
  QHGDRLPRVEMALEALRNVIKYNPGSESECIGHFKLIFSLLRVHGAGQVQQLALEVVNIV
  TSNQDCVNNIAESMVLSSLLALLHSLPSSRQLVLETLYALTSSTKIIKEAMAKGALIYLL
  DMFCNSTHPQVRAQTAELFAKMTADKLIGPKVRITLMKFLPSVFMDAMRDNPEAAVHIFE
  GTHENPELIWNDNSRDKVSTTVREMMLEHFKNQQDNPEANWKLPEDFAVVFGEAEGELAV
  GGVFLRIFIAQPAWVLRKPREFLIALLEKLTELLEKNNPHGETLETLTMATVCLFSAQPQ
  LADQVPPLGHLPKVIQAMNHRNNAIPKSAIRVIHALSENELCVRAMASLETIGPLMNGMK
  KRADTVGLACEAINRMFQKEQSELVAQALKADLVPYLLKLLEGIGLENLDSPAATKAQIV
  KALKAMTRSLQYGEQVNEILCRSSVWSAFKDQKHDLFISESQTAGYLTGPGVAGYLTAGT
  STSVMSNLPPPVDHEAGDLGYQT

• Sequence length: 2243

Pathways

Reactome Pathway:

Neutrophil degranulation

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (35)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAJC13-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential tremor	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528, 33356394	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE ONSET PARKINSON DISEASE	—	CTD	24218364	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE-ONSET PARKINSON DISEASE	—	Orphanet	24218364	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease 21	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	24218364,33505021,17620502,12847165,12730996,12629236,19966284,29311685,25393719,16148263,31658403,19846850,27270108,12761037,31261387,19286695,28193887,18332251	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson disease, late-onset	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (36)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18307993		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25550792	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	25118025	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Essential Tremor	Tremor	BEFREE	25118025		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Essential Tremor	Tremor	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary late-onset Parkinson disease	Hereditary Parkinson`s Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	26278106		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39311489	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	24218364, 26278106	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26278106		★☆☆☆☆ Found in Text Mining only
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	32349771	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18307993		★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 3	Nephronophthisis	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26965686		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24126164, 24218364, 25118025, 25186792, 26278106, 27236598, 28733970, 29309590, 29887357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24218364, 25118025, 26278106, 27236598, 30537300, 33818904, 34148545, 40717240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	24218364, 40717240	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CLINVAR_DG	24218364		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	UNIPROT_DG	24218364, 25393719		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinsonian Disorders	Parkinson disease	Pubtator	24218364	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	25186792, 25330418, 25393719, 29124790, 31082451, 31120186		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35681439	Stimulate	★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SNCAIP 1 shared diseaseHereditary parkinson disease 3 shared evidence sourcesDisgenet (Parkinson disease), CTD (Hereditary parkinson disease), Disgenet (Hereditary parkinson disease) Related via 1 shared disease including Hereditary parkinson disease — evidence mostly Disgenet. EIF4G1 1 shared diseaseHereditary parkinson disease 3 shared evidence sourcesDisgenet (Parkinson disease), Disgenet (Hereditary parkinson disease), Orphanet (Hereditary parkinson disease) Related via 1 shared disease including Hereditary parkinson disease — evidence mostly Disgenet. TMEM230 1 shared diseaseHereditary parkinson disease 2 shared evidence sourcesDisgenet (Parkinson disease), Disgenet (Hereditary parkinson disease) Related via 1 shared disease including Hereditary parkinson disease — evidence mostly Disgenet. VPS35 1 shared diseaseHereditary parkinson disease 3 shared evidence sourcesDisgenet (Parkinson disease), Disgenet (Hereditary parkinson disease), Orphanet (Hereditary parkinson disease) Related via 1 shared disease including Hereditary parkinson disease — evidence mostly Disgenet. ADH1C 1 shared diseaseHereditary parkinson disease 3 shared evidence sourcesDisgenet (Parkinson disease), CTD (Hereditary parkinson disease), Disgenet (Hereditary parkinson disease) Related via 1 shared disease including Hereditary parkinson disease — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SNCAIP	1	["Hereditary parkinson disease"]	0	[]	3	["Disgenet (Parkinson disease)","CTD (Hereditary parkinson disease)","Disgenet (Hereditary parkinson disease)"]
EIF4G1	1	["Hereditary parkinson disease"]	0	[]	3	["Disgenet (Parkinson disease)","Disgenet (Hereditary parkinson disease)","Orphanet (Hereditary parkinson disease)"]
TMEM230	1	["Hereditary parkinson disease"]	0	[]	2	["Disgenet (Parkinson disease)","Disgenet (Hereditary parkinson disease)"]
VPS35	1	["Hereditary parkinson disease"]	0	[]	3	["Disgenet (Parkinson disease)","Disgenet (Hereditary parkinson disease)","Orphanet (Hereditary parkinson disease)"]
ADH1C	1	["Hereditary parkinson disease"]	0	[]	3	["Disgenet (Parkinson disease)","CTD (Hereditary parkinson disease)","Disgenet (Hereditary parkinson disease)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 2 of 5 related genesEIF4G1, ADH1C Diabetic neuropathy Linked via 1 of 5 related genesSNCAIP Autism Linked via 1 of 5 related genesEIF4G1 Multiple myeloma Linked via 1 of 5 related genesEIF4G1 Ear, patella, short stature syndrome Linked via 1 of 5 related genesVPS35

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	2	["EIF4G1","ADH1C"]
Diabetic neuropathy	1	["SNCAIP"]
Autism	1	["EIF4G1"]
Multiple myeloma	1	["EIF4G1"]
Ear, patella, short stature syndrome	1	["VPS35"]