ZFR (zinc finger RNA binding protein)

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Gene

• Entrez ID: 51663
• Gene name: Zinc finger RNA binding protein
• Gene symbol: ZFR
• Synonyms (NCBI Gene): SPG71, ZFR1
• Chromosome: 5
• Chromosome location: 5p13.3
• Summary: This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expressio

miRNA Show/Hide all (313)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025344	hsa-miR-34a-5p	Proteomics	21566225
MIRT041922	hsa-miR-484	CLASH	23622248
MIRT686247	hsa-miR-5700	HITS-CLIP	23313552
MIRT686246	hsa-miR-3120-3p	HITS-CLIP	23313552
MIRT686245	hsa-miR-545-3p	HITS-CLIP	23313552
MIRT686244	hsa-miR-376a-5p	HITS-CLIP	23313552
MIRT686243	hsa-miR-4760-5p	HITS-CLIP	23313552
MIRT686242	hsa-miR-8061	HITS-CLIP	23313552
MIRT439234	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT439234	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT686247	hsa-miR-5700	HITS-CLIP	23313552
MIRT686246	hsa-miR-3120-3p	HITS-CLIP	23313552
MIRT686245	hsa-miR-545-3p	HITS-CLIP	23313552
MIRT686244	hsa-miR-376a-5p	HITS-CLIP	23313552
MIRT686243	hsa-miR-4760-5p	HITS-CLIP	23313552
MIRT686242	hsa-miR-8061	HITS-CLIP	23313552
MIRT1512082	hsa-miR-105	CLIP-seq
MIRT1512083	hsa-miR-1184	CLIP-seq
MIRT1512084	hsa-miR-1205	CLIP-seq
MIRT1512085	hsa-miR-1207-5p	CLIP-seq
MIRT1512086	hsa-miR-141	CLIP-seq
MIRT1512087	hsa-miR-200a	CLIP-seq
MIRT1512088	hsa-miR-205	CLIP-seq
MIRT1512089	hsa-miR-2054	CLIP-seq
MIRT1512090	hsa-miR-2113	CLIP-seq
MIRT1512091	hsa-miR-23a	CLIP-seq
MIRT1512092	hsa-miR-23b	CLIP-seq
MIRT1512093	hsa-miR-23c	CLIP-seq
MIRT1512094	hsa-miR-3064-3p	CLIP-seq
MIRT1512095	hsa-miR-3074-3p	CLIP-seq
MIRT1512096	hsa-miR-3156-5p	CLIP-seq
MIRT1512097	hsa-miR-3158-5p	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT1512099	hsa-miR-3613-5p	CLIP-seq
MIRT1512100	hsa-miR-3617	CLIP-seq
MIRT1512101	hsa-miR-3663-3p	CLIP-seq
MIRT1512102	hsa-miR-380	CLIP-seq
MIRT1512103	hsa-miR-4278	CLIP-seq
MIRT1512104	hsa-miR-4303	CLIP-seq
MIRT1512105	hsa-miR-4426	CLIP-seq
MIRT1512106	hsa-miR-4647	CLIP-seq
MIRT1512107	hsa-miR-4662b	CLIP-seq
MIRT1512108	hsa-miR-4699-5p	CLIP-seq
MIRT1512109	hsa-miR-4701-5p	CLIP-seq
MIRT1512110	hsa-miR-4704-5p	CLIP-seq
MIRT1512111	hsa-miR-4716-3p	CLIP-seq
MIRT1512112	hsa-miR-4736	CLIP-seq
MIRT1512113	hsa-miR-4763-3p	CLIP-seq
MIRT1512114	hsa-miR-4775	CLIP-seq
MIRT1512115	hsa-miR-4793-5p	CLIP-seq
MIRT1512116	hsa-miR-495	CLIP-seq
MIRT1512117	hsa-miR-499-3p	CLIP-seq
MIRT1512118	hsa-miR-499a-3p	CLIP-seq
MIRT1512119	hsa-miR-500a	CLIP-seq
MIRT1512120	hsa-miR-588	CLIP-seq
MIRT1512121	hsa-miR-590-3p	CLIP-seq
MIRT1512122	hsa-miR-599	CLIP-seq
MIRT1512123	hsa-miR-641	CLIP-seq
MIRT1512083	hsa-miR-1184	CLIP-seq
MIRT1512084	hsa-miR-1205	CLIP-seq
MIRT2154151	hsa-miR-181a	CLIP-seq
MIRT2154152	hsa-miR-181b	CLIP-seq
MIRT2154153	hsa-miR-181c	CLIP-seq
MIRT2154154	hsa-miR-181d	CLIP-seq
MIRT1512095	hsa-miR-3074-3p	CLIP-seq
MIRT1512096	hsa-miR-3156-5p	CLIP-seq
MIRT1512097	hsa-miR-3158-5p	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT1512099	hsa-miR-3613-5p	CLIP-seq
MIRT2154155	hsa-miR-4262	CLIP-seq
MIRT2154156	hsa-miR-452	CLIP-seq
MIRT2154157	hsa-miR-4670-3p	CLIP-seq
MIRT2154158	hsa-miR-4676-3p	CLIP-seq
MIRT2154159	hsa-miR-4693-5p	CLIP-seq
MIRT1512110	hsa-miR-4704-5p	CLIP-seq
MIRT2154160	hsa-miR-4795-3p	CLIP-seq
MIRT2154161	hsa-miR-494	CLIP-seq
MIRT2154162	hsa-miR-520d-5p	CLIP-seq
MIRT2154163	hsa-miR-524-5p	CLIP-seq
MIRT2154164	hsa-miR-543	CLIP-seq
MIRT2154165	hsa-miR-548ae	CLIP-seq
MIRT2154166	hsa-miR-548aj	CLIP-seq
MIRT2154167	hsa-miR-548am	CLIP-seq
MIRT2154168	hsa-miR-548x	CLIP-seq
MIRT2154169	hsa-miR-586	CLIP-seq
MIRT1512082	hsa-miR-105	CLIP-seq
MIRT1512083	hsa-miR-1184	CLIP-seq
MIRT1512084	hsa-miR-1205	CLIP-seq
MIRT1512085	hsa-miR-1207-5p	CLIP-seq
MIRT2374399	hsa-miR-1208	CLIP-seq
MIRT2374400	hsa-miR-1244	CLIP-seq
MIRT2374401	hsa-miR-129-5p	CLIP-seq
MIRT2154151	hsa-miR-181a	CLIP-seq
MIRT2154152	hsa-miR-181b	CLIP-seq
MIRT2154153	hsa-miR-181c	CLIP-seq
MIRT2154154	hsa-miR-181d	CLIP-seq
MIRT1512089	hsa-miR-2054	CLIP-seq
MIRT1512090	hsa-miR-2113	CLIP-seq
MIRT2374402	hsa-miR-298	CLIP-seq
MIRT1512094	hsa-miR-3064-3p	CLIP-seq
MIRT2374403	hsa-miR-3065-5p	CLIP-seq
MIRT1512096	hsa-miR-3156-5p	CLIP-seq
MIRT1512097	hsa-miR-3158-5p	CLIP-seq
MIRT2374404	hsa-miR-330-3p	CLIP-seq
MIRT2374405	hsa-miR-3607-3p	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT1512099	hsa-miR-3613-5p	CLIP-seq
MIRT1512100	hsa-miR-3617	CLIP-seq
MIRT1512101	hsa-miR-3663-3p	CLIP-seq
MIRT2154155	hsa-miR-4262	CLIP-seq
MIRT2374406	hsa-miR-4277	CLIP-seq
MIRT1512104	hsa-miR-4303	CLIP-seq
MIRT2154156	hsa-miR-452	CLIP-seq
MIRT2154158	hsa-miR-4676-3p	CLIP-seq
MIRT2374407	hsa-miR-4684-3p	CLIP-seq
MIRT2154159	hsa-miR-4693-5p	CLIP-seq
MIRT2374408	hsa-miR-4696	CLIP-seq
MIRT1512110	hsa-miR-4704-5p	CLIP-seq
MIRT2374409	hsa-miR-4714-3p	CLIP-seq
MIRT1512112	hsa-miR-4736	CLIP-seq
MIRT1512113	hsa-miR-4763-3p	CLIP-seq
MIRT2374410	hsa-miR-4781-3p	CLIP-seq
MIRT2154161	hsa-miR-494	CLIP-seq
MIRT1512117	hsa-miR-499-3p	CLIP-seq
MIRT1512118	hsa-miR-499a-3p	CLIP-seq
MIRT1512119	hsa-miR-500a	CLIP-seq
MIRT2154164	hsa-miR-543	CLIP-seq
MIRT2374411	hsa-miR-548a-3p	CLIP-seq
MIRT2374412	hsa-miR-548e	CLIP-seq
MIRT2374413	hsa-miR-548f	CLIP-seq
MIRT2374414	hsa-miR-548g	CLIP-seq
MIRT2374415	hsa-miR-548n	CLIP-seq
MIRT2374416	hsa-miR-548p	CLIP-seq
MIRT1512122	hsa-miR-599	CLIP-seq
MIRT2374417	hsa-miR-607	CLIP-seq
MIRT1512123	hsa-miR-641	CLIP-seq
MIRT2374418	hsa-miR-656	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT2435003	hsa-miR-4799-5p	CLIP-seq
MIRT1512082	hsa-miR-105	CLIP-seq
MIRT1512083	hsa-miR-1184	CLIP-seq
MIRT1512084	hsa-miR-1205	CLIP-seq
MIRT1512085	hsa-miR-1207-5p	CLIP-seq
MIRT2374399	hsa-miR-1208	CLIP-seq
MIRT2374400	hsa-miR-1244	CLIP-seq
MIRT2666924	hsa-miR-1272	CLIP-seq
MIRT1512086	hsa-miR-141	CLIP-seq
MIRT2154151	hsa-miR-181a	CLIP-seq
MIRT2154152	hsa-miR-181b	CLIP-seq
MIRT2154153	hsa-miR-181c	CLIP-seq
MIRT2154154	hsa-miR-181d	CLIP-seq
MIRT1512087	hsa-miR-200a	CLIP-seq
MIRT1512088	hsa-miR-205	CLIP-seq
MIRT1512089	hsa-miR-2054	CLIP-seq
MIRT1512090	hsa-miR-2113	CLIP-seq
MIRT2666925	hsa-miR-224	CLIP-seq
MIRT1512091	hsa-miR-23a	CLIP-seq
MIRT1512092	hsa-miR-23b	CLIP-seq
MIRT1512093	hsa-miR-23c	CLIP-seq
MIRT2374402	hsa-miR-298	CLIP-seq
MIRT1512094	hsa-miR-3064-3p	CLIP-seq
MIRT1512095	hsa-miR-3074-3p	CLIP-seq
MIRT2666926	hsa-miR-3154	CLIP-seq
MIRT1512096	hsa-miR-3156-5p	CLIP-seq
MIRT1512097	hsa-miR-3158-5p	CLIP-seq
MIRT2666927	hsa-miR-3177-5p	CLIP-seq
MIRT2666928	hsa-miR-3179	CLIP-seq
MIRT2374404	hsa-miR-330-3p	CLIP-seq
MIRT2374405	hsa-miR-3607-3p	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT1512099	hsa-miR-3613-5p	CLIP-seq
MIRT1512100	hsa-miR-3617	CLIP-seq
MIRT2666929	hsa-miR-3647-3p	CLIP-seq
MIRT2666930	hsa-miR-365	CLIP-seq
MIRT2666931	hsa-miR-3653	CLIP-seq
MIRT2666932	hsa-miR-3658	CLIP-seq
MIRT1512101	hsa-miR-3663-3p	CLIP-seq
MIRT2666933	hsa-miR-3692	CLIP-seq
MIRT2666934	hsa-miR-369-3p	CLIP-seq
MIRT2666935	hsa-miR-374a	CLIP-seq
MIRT2666936	hsa-miR-374b	CLIP-seq
MIRT2666937	hsa-miR-374c	CLIP-seq
MIRT2666938	hsa-miR-376a	CLIP-seq
MIRT2666939	hsa-miR-376b	CLIP-seq
MIRT1512102	hsa-miR-380	CLIP-seq
MIRT2666940	hsa-miR-3913-3p	CLIP-seq
MIRT2666941	hsa-miR-3936	CLIP-seq
MIRT2666942	hsa-miR-421	CLIP-seq
MIRT2154155	hsa-miR-4262	CLIP-seq
MIRT2374406	hsa-miR-4277	CLIP-seq
MIRT1512104	hsa-miR-4303	CLIP-seq
MIRT1512105	hsa-miR-4426	CLIP-seq
MIRT2666943	hsa-miR-4436b-5p	CLIP-seq
MIRT2666944	hsa-miR-4477a	CLIP-seq
MIRT2666945	hsa-miR-4501	CLIP-seq
MIRT2154156	hsa-miR-452	CLIP-seq
MIRT2666946	hsa-miR-4528	CLIP-seq
MIRT1512106	hsa-miR-4647	CLIP-seq
MIRT1512107	hsa-miR-4662b	CLIP-seq
MIRT2154157	hsa-miR-4670-3p	CLIP-seq
MIRT2666947	hsa-miR-4672	CLIP-seq
MIRT2154158	hsa-miR-4676-3p	CLIP-seq
MIRT2154159	hsa-miR-4693-5p	CLIP-seq
MIRT2666948	hsa-miR-4698	CLIP-seq
MIRT1512108	hsa-miR-4699-5p	CLIP-seq
MIRT2666949	hsa-miR-4709-5p	CLIP-seq
MIRT2666950	hsa-miR-4718	CLIP-seq
MIRT2666951	hsa-miR-4731-3p	CLIP-seq
MIRT1512112	hsa-miR-4736	CLIP-seq
MIRT1512113	hsa-miR-4763-3p	CLIP-seq
MIRT1512114	hsa-miR-4775	CLIP-seq
MIRT2374410	hsa-miR-4781-3p	CLIP-seq
MIRT2666952	hsa-miR-4789-5p	CLIP-seq
MIRT1512115	hsa-miR-4793-5p	CLIP-seq
MIRT2435003	hsa-miR-4799-5p	CLIP-seq
MIRT2666953	hsa-miR-4801	CLIP-seq
MIRT2666954	hsa-miR-4803	CLIP-seq
MIRT2666955	hsa-miR-487a	CLIP-seq
MIRT2666956	hsa-miR-489	CLIP-seq
MIRT2154161	hsa-miR-494	CLIP-seq
MIRT1512116	hsa-miR-495	CLIP-seq
MIRT1512117	hsa-miR-499-3p	CLIP-seq
MIRT1512118	hsa-miR-499a-3p	CLIP-seq
MIRT1512119	hsa-miR-500a	CLIP-seq
MIRT2666957	hsa-miR-501-5p	CLIP-seq
MIRT2154162	hsa-miR-520d-5p	CLIP-seq
MIRT2154163	hsa-miR-524-5p	CLIP-seq
MIRT2154164	hsa-miR-543	CLIP-seq
MIRT2154165	hsa-miR-548ae	CLIP-seq
MIRT2154166	hsa-miR-548aj	CLIP-seq
MIRT2154167	hsa-miR-548am	CLIP-seq
MIRT2374415	hsa-miR-548n	CLIP-seq
MIRT2374416	hsa-miR-548p	CLIP-seq
MIRT2154168	hsa-miR-548x	CLIP-seq
MIRT1512121	hsa-miR-590-3p	CLIP-seq
MIRT1512122	hsa-miR-599	CLIP-seq
MIRT2374417	hsa-miR-607	CLIP-seq
MIRT1512123	hsa-miR-641	CLIP-seq
MIRT2666958	hsa-miR-655	CLIP-seq
MIRT2666959	hsa-miR-659	CLIP-seq
MIRT2666960	hsa-miR-889	CLIP-seq
MIRT2666961	hsa-miR-938	CLIP-seq
MIRT1512083	hsa-miR-1184	CLIP-seq
MIRT1512084	hsa-miR-1205	CLIP-seq
MIRT1512085	hsa-miR-1207-5p	CLIP-seq
MIRT2666924	hsa-miR-1272	CLIP-seq
MIRT2154151	hsa-miR-181a	CLIP-seq
MIRT2154152	hsa-miR-181b	CLIP-seq
MIRT2154153	hsa-miR-181c	CLIP-seq
MIRT2154154	hsa-miR-181d	CLIP-seq
MIRT1512088	hsa-miR-205	CLIP-seq
MIRT1512089	hsa-miR-2054	CLIP-seq
MIRT1512090	hsa-miR-2113	CLIP-seq
MIRT1512091	hsa-miR-23a	CLIP-seq
MIRT1512092	hsa-miR-23b	CLIP-seq
MIRT1512093	hsa-miR-23c	CLIP-seq
MIRT2374402	hsa-miR-298	CLIP-seq
MIRT1512094	hsa-miR-3064-3p	CLIP-seq
MIRT1512095	hsa-miR-3074-3p	CLIP-seq
MIRT1512096	hsa-miR-3156-5p	CLIP-seq
MIRT1512097	hsa-miR-3158-5p	CLIP-seq
MIRT2666927	hsa-miR-3177-5p	CLIP-seq
MIRT2374405	hsa-miR-3607-3p	CLIP-seq
MIRT1512098	hsa-miR-3613-3p	CLIP-seq
MIRT1512099	hsa-miR-3613-5p	CLIP-seq
MIRT1512100	hsa-miR-3617	CLIP-seq
MIRT2666929	hsa-miR-3647-3p	CLIP-seq
MIRT2666930	hsa-miR-365	CLIP-seq
MIRT1512101	hsa-miR-3663-3p	CLIP-seq
MIRT2666933	hsa-miR-3692	CLIP-seq
MIRT1512102	hsa-miR-380	CLIP-seq
MIRT2666940	hsa-miR-3913-3p	CLIP-seq
MIRT2666942	hsa-miR-421	CLIP-seq
MIRT2154155	hsa-miR-4262	CLIP-seq
MIRT2374406	hsa-miR-4277	CLIP-seq
MIRT1512104	hsa-miR-4303	CLIP-seq
MIRT1512105	hsa-miR-4426	CLIP-seq
MIRT2666943	hsa-miR-4436b-5p	CLIP-seq
MIRT2666945	hsa-miR-4501	CLIP-seq
MIRT2154156	hsa-miR-452	CLIP-seq
MIRT1512106	hsa-miR-4647	CLIP-seq
MIRT1512107	hsa-miR-4662b	CLIP-seq
MIRT2154157	hsa-miR-4670-3p	CLIP-seq
MIRT2666947	hsa-miR-4672	CLIP-seq
MIRT2154158	hsa-miR-4676-3p	CLIP-seq
MIRT2154159	hsa-miR-4693-5p	CLIP-seq
MIRT2666948	hsa-miR-4698	CLIP-seq
MIRT1512108	hsa-miR-4699-5p	CLIP-seq
MIRT1512109	hsa-miR-4701-5p	CLIP-seq
MIRT2666949	hsa-miR-4709-5p	CLIP-seq
MIRT2666950	hsa-miR-4718	CLIP-seq
MIRT2666951	hsa-miR-4731-3p	CLIP-seq
MIRT1512112	hsa-miR-4736	CLIP-seq
MIRT1512113	hsa-miR-4763-3p	CLIP-seq
MIRT1512114	hsa-miR-4775	CLIP-seq
MIRT2666952	hsa-miR-4789-5p	CLIP-seq
MIRT1512115	hsa-miR-4793-5p	CLIP-seq
MIRT2435003	hsa-miR-4799-5p	CLIP-seq
MIRT2666953	hsa-miR-4801	CLIP-seq
MIRT2666956	hsa-miR-489	CLIP-seq
MIRT2154161	hsa-miR-494	CLIP-seq
MIRT1512116	hsa-miR-495	CLIP-seq
MIRT1512117	hsa-miR-499-3p	CLIP-seq
MIRT1512118	hsa-miR-499a-3p	CLIP-seq
MIRT1512119	hsa-miR-500a	CLIP-seq
MIRT2154162	hsa-miR-520d-5p	CLIP-seq
MIRT2154163	hsa-miR-524-5p	CLIP-seq
MIRT2154164	hsa-miR-543	CLIP-seq
MIRT1512120	hsa-miR-588	CLIP-seq
MIRT1512121	hsa-miR-590-3p	CLIP-seq
MIRT1512122	hsa-miR-599	CLIP-seq
MIRT1512123	hsa-miR-641	CLIP-seq
MIRT2666961	hsa-miR-938	CLIP-seq

Gene ontology (GO) Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003727	Function	Single-stranded RNA binding	IBA
GO:0005515	Function	Protein binding	IPI	20195357
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA

Other IDs

• MIM: 615635
• HGNC: 17277
• e!Ensembl: ENSG00000056097

Protein

• UniProt ID: Q96KR1
• Protein name: Zinc finger RNA-binding protein (hZFR) (M-phase phosphoprotein homolog)
• Protein function: Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07528	DZF	790 → 1038	DZF domain	Domain
  PF12874	zf-met	331 → 355		Domain
  PF12874	zf-met	382 → 406		Domain
  PF12874	zf-met	582 → 606		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung, liver, lymphocytes, heart, pancreas, placenta, brain and kidney. {ECO:0000269|PubMed:11574164}.
• Sequence:

  MIPICPVVSFTYVPSRLGEDAKMATGNYFGFTHSGAAAAAAAAQYSQQPASGVAYSHPTT
  VASYTVHQAPVAAHTVTAAYAPAAATVAVARPAPVAVAAAATAAAYGGYPTAHTATDYGY
  TQRQQEAPPPPPPATTQNYQDSYSYVRSTAPAVAYDSKQYYQQPTATAAAVAAAAQPQPS
  VAETYYQTAPKAGYSQGATQYTQAQQTRQVTAIKPATPSPATTTFSIYPVSSTVQPVAAA
  ATVVPSYTQSATYSTTAVTYSGTSYSGYEAAVYSAASSYYQQQQQQQKQAAAAAAAAAAT
  AAWTGTTFTKKAPFQNKQLKPKQPPKPPQIHYCDVCKISCAGPQTYKEHLEGQKHKKKEA
  ALKASQNTSSSNSSTRGTQNQLRCELCDVSCTGADAYAAHIRGAKHQKVVKLHTKLGKPI
  PSTEPNVVSQATSSTAVSASKPTASPSSIAANNCTVNTSSVATSSMKGLTTTGNSSLNST
  SNTKVSAVPTNMAAKKTSTPKINFVGGNKLQSTGNKAEDIKGTECVKSTPVTSAVQIPEV
  KQDTVSEPVTPASLAALQSDVQPVGHDYVEEVRNDEGKVIRFHCKLCECSFNDPNAKEMH
  LKGRRHRLQYKKKVNPDLQVEVKPSIRARKIQEEKMRKQMQKEEYWRRREEEERWRMEMR
  RYEEDMYWRRMEEEQHHWDDRRRMPDGGYPHGPPGPLGLLGVRPGMPPQPQGPAPLRRPD
  SSDDRYVMTKHATIYPTEEELQAVQKIVSITERALKLVSDSLSEHEKNKNKEGDDKKEGG
  KDRALKGVLRVGVLAKGLLLRGDRNVNLVLLCSEKPSKTLLSRIAENLPKQLAVISPEKY
  DIKCAVSEAAIILNSCVEPKMQVTITLTSPIIREENMREGDVTSGMVKDPPDVLDRQKCL
  DALAALRHAKWFQARANGLQSCVIIIRILRDLCQRVPTWSDFPSWAMELLVEKAISSASS
  PQSPGDALRRVFECISSGIILKGSPGLLDPCEKDPFDTLATMTDQQREDITSSAQFALRL
  LAFRQIHKVLGMDPLPQMSQRFNIHNNRKRRRDSDGVDGFEAEGKKDKKDYDNF

• Sequence length: 1074

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 (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASPHYXIA NEONATORUM	—	GWAS catalog	34985809	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	24482476, 24482476	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	34985809	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	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
Nonpapillary renal cell carcinoma	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
Pure or complex autosomal recessive spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	34323000	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZFR-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (19)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal recessive spastic paraplegia type 71	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Digestive System	Gastric Cancer	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33090396	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30914198		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30914198		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27177590, 29933757		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31010678		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28979805, 29361817, 30611568, 31010678		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28979805, 30611568		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27177590, 29933757		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27177590		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	29361817		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35127342	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ARSI 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 3 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. ARL6IP1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 3 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. REEP2 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 3 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. DDHD1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 3 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet. CYP2U1 2 shared diseasesSpastic paraplegia, Hereditary spastic paraplegia 3 shared evidence sourcesOrphanet (Spastic paraplegia), Disgenet (Spastic paraplegia), Disgenet (Hereditary spastic paraplegia) Related via 2 shared diseases including Spastic paraplegia, Hereditary spastic paraplegia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ARSI	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	3	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)"]
ARL6IP1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	3	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)"]
REEP2	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	3	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)"]
DDHD1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	3	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)"]
CYP2U1	2	["Spastic paraplegia","Hereditary spastic paraplegia"]	0	[]	3	["Orphanet (Spastic paraplegia)","Disgenet (Spastic paraplegia)","Disgenet (Hereditary spastic paraplegia)"]

Diseases Linked via Similar Genes

Autism Linked via 3 of 5 related genesARSI, DDHD1, CYP2U1 Alzheimer disease Linked via 1 of 5 related genesARSI Dementia Linked via 1 of 5 related genesARSI Glioma Linked via 1 of 5 related genesARSI Prostatic neoplasms Linked via 1 of 5 related genesARL6IP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	3	["ARSI","DDHD1","CYP2U1"]
Alzheimer disease	1	["ARSI"]
Dementia	1	["ARSI"]
Glioma	1	["ARSI"]
Prostatic neoplasms	1	["ARL6IP1"]