EPB41L4A (erythrocyte membrane protein band 4.1 like 4A)

Gene

• Entrez ID: 64097
• Gene name: Erythrocyte membrane protein band 4.1 like 4A
• Gene symbol: EPB41L4A
• Synonyms (NCBI Gene): EPB41L4, NBL4
• Chromosome: 5
• Chromosome location: 5q22.1-q22.2
• Summary: The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal cons

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882207	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019149	hsa-miR-335-5p	Microarray	18185580
MIRT965665	hsa-miR-1193	CLIP-seq
MIRT965666	hsa-miR-1273d	CLIP-seq
MIRT965667	hsa-miR-1275	CLIP-seq
MIRT965668	hsa-miR-128	CLIP-seq
MIRT965669	hsa-miR-1304	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT965671	hsa-miR-214	CLIP-seq
MIRT965672	hsa-miR-2467-5p	CLIP-seq
MIRT965673	hsa-miR-25	CLIP-seq
MIRT965674	hsa-miR-27a	CLIP-seq
MIRT965675	hsa-miR-27b	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT965677	hsa-miR-3130-5p	CLIP-seq
MIRT965678	hsa-miR-3134	CLIP-seq
MIRT965679	hsa-miR-3165	CLIP-seq
MIRT965680	hsa-miR-3188	CLIP-seq
MIRT965681	hsa-miR-32	CLIP-seq
MIRT965682	hsa-miR-3613-3p	CLIP-seq
MIRT965683	hsa-miR-3614-5p	CLIP-seq
MIRT965684	hsa-miR-3619-5p	CLIP-seq
MIRT965685	hsa-miR-363	CLIP-seq
MIRT965686	hsa-miR-3659	CLIP-seq
MIRT965687	hsa-miR-3662	CLIP-seq
MIRT965688	hsa-miR-367	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965691	hsa-miR-3691-5p	CLIP-seq
MIRT965692	hsa-miR-371-5p	CLIP-seq
MIRT965693	hsa-miR-371b-5p	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT965697	hsa-miR-3975	CLIP-seq
MIRT965698	hsa-miR-423-3p	CLIP-seq
MIRT965699	hsa-miR-4293	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT965701	hsa-miR-4433	CLIP-seq
MIRT965702	hsa-miR-4459	CLIP-seq
MIRT965703	hsa-miR-4464	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT965705	hsa-miR-4482	CLIP-seq
MIRT965706	hsa-miR-4525	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT965708	hsa-miR-4662a-3p	CLIP-seq
MIRT965709	hsa-miR-4665-5p	CLIP-seq
MIRT965710	hsa-miR-4690-5p	CLIP-seq
MIRT965711	hsa-miR-4693-3p	CLIP-seq
MIRT965712	hsa-miR-4698	CLIP-seq
MIRT965713	hsa-miR-4723-5p	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT965715	hsa-miR-4748	CLIP-seq
MIRT965716	hsa-miR-4765	CLIP-seq
MIRT965717	hsa-miR-4768-3p	CLIP-seq
MIRT965718	hsa-miR-4786-5p	CLIP-seq
MIRT965719	hsa-miR-4797-5p	CLIP-seq
MIRT965720	hsa-miR-4804-3p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT965722	hsa-miR-513a-5p	CLIP-seq
MIRT965723	hsa-miR-520d-5p	CLIP-seq
MIRT965724	hsa-miR-524-5p	CLIP-seq
MIRT965725	hsa-miR-548k	CLIP-seq
MIRT965726	hsa-miR-548n	CLIP-seq
MIRT965727	hsa-miR-579	CLIP-seq
MIRT965728	hsa-miR-607	CLIP-seq
MIRT965729	hsa-miR-625	CLIP-seq
MIRT965730	hsa-miR-761	CLIP-seq
MIRT965731	hsa-miR-92a	CLIP-seq
MIRT965732	hsa-miR-92b	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq
MIRT1986082	hsa-miR-1206	CLIP-seq
MIRT1986083	hsa-miR-1273	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT1986084	hsa-miR-3180-5p	CLIP-seq
MIRT965683	hsa-miR-3614-5p	CLIP-seq
MIRT1986085	hsa-miR-3665	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT965698	hsa-miR-423-3p	CLIP-seq
MIRT965699	hsa-miR-4293	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT1986086	hsa-miR-4486	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT1986087	hsa-miR-4649-5p	CLIP-seq
MIRT965708	hsa-miR-4662a-3p	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT1986088	hsa-miR-4793-3p	CLIP-seq
MIRT965719	hsa-miR-4797-5p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT1986089	hsa-miR-508-5p	CLIP-seq
MIRT1986090	hsa-miR-520a-5p	CLIP-seq
MIRT1986091	hsa-miR-525-5p	CLIP-seq
MIRT1986092	hsa-miR-661	CLIP-seq
MIRT1986093	hsa-miR-759	CLIP-seq
MIRT1986094	hsa-miR-766	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq
MIRT2220518	hsa-miR-1	CLIP-seq
MIRT965665	hsa-miR-1193	CLIP-seq
MIRT2220519	hsa-miR-1253	CLIP-seq
MIRT2220520	hsa-miR-125a-3p	CLIP-seq
MIRT2220521	hsa-miR-1269	CLIP-seq
MIRT2220522	hsa-miR-1269b	CLIP-seq
MIRT1986083	hsa-miR-1273	CLIP-seq
MIRT2220523	hsa-miR-1273e	CLIP-seq
MIRT965668	hsa-miR-128	CLIP-seq
MIRT2220524	hsa-miR-1296	CLIP-seq
MIRT2220525	hsa-miR-146a	CLIP-seq
MIRT2220526	hsa-miR-146b-5p	CLIP-seq
MIRT2220527	hsa-miR-148a	CLIP-seq
MIRT2220528	hsa-miR-148b	CLIP-seq
MIRT2220529	hsa-miR-152	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT2220530	hsa-miR-185	CLIP-seq
MIRT2220531	hsa-miR-1908	CLIP-seq
MIRT2220532	hsa-miR-204	CLIP-seq
MIRT2220533	hsa-miR-205	CLIP-seq
MIRT2220534	hsa-miR-206	CLIP-seq
MIRT2220535	hsa-miR-211	CLIP-seq
MIRT2220536	hsa-miR-2278	CLIP-seq
MIRT2220537	hsa-miR-28-5p	CLIP-seq
MIRT2220538	hsa-miR-2909	CLIP-seq
MIRT2220539	hsa-miR-3065-3p	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT2220540	hsa-miR-3125	CLIP-seq
MIRT965678	hsa-miR-3134	CLIP-seq
MIRT2220541	hsa-miR-3139	CLIP-seq
MIRT2220542	hsa-miR-3140-5p	CLIP-seq
MIRT2220543	hsa-miR-3150a-3p	CLIP-seq
MIRT2220544	hsa-miR-3158-3p	CLIP-seq
MIRT2220545	hsa-miR-3160-3p	CLIP-seq
MIRT2220546	hsa-miR-3160-5p	CLIP-seq
MIRT965679	hsa-miR-3165	CLIP-seq
MIRT2220547	hsa-miR-3175	CLIP-seq
MIRT1986084	hsa-miR-3180-5p	CLIP-seq
MIRT2220548	hsa-miR-3192	CLIP-seq
MIRT2220549	hsa-miR-330-3p	CLIP-seq
MIRT2220550	hsa-miR-339-5p	CLIP-seq
MIRT965683	hsa-miR-3614-5p	CLIP-seq
MIRT2220551	hsa-miR-3646	CLIP-seq
MIRT1986085	hsa-miR-3665	CLIP-seq
MIRT2220552	hsa-miR-3672	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965691	hsa-miR-3691-5p	CLIP-seq
MIRT2220553	hsa-miR-371b-3p	CLIP-seq
MIRT2220554	hsa-miR-376c	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT2220555	hsa-miR-3916	CLIP-seq
MIRT2220556	hsa-miR-3923	CLIP-seq
MIRT2220557	hsa-miR-3925-5p	CLIP-seq
MIRT2220558	hsa-miR-3926	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT2220559	hsa-miR-3935	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT2220560	hsa-miR-3978	CLIP-seq
MIRT2220561	hsa-miR-4251	CLIP-seq
MIRT2220562	hsa-miR-4261	CLIP-seq
MIRT2220563	hsa-miR-4276	CLIP-seq
MIRT2220564	hsa-miR-4277	CLIP-seq
MIRT2220565	hsa-miR-4282	CLIP-seq
MIRT2220566	hsa-miR-4287	CLIP-seq
MIRT2220567	hsa-miR-4291	CLIP-seq
MIRT2220568	hsa-miR-4292	CLIP-seq
MIRT2220569	hsa-miR-4305	CLIP-seq
MIRT2220570	hsa-miR-4306	CLIP-seq
MIRT2220571	hsa-miR-4308	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT965701	hsa-miR-4433	CLIP-seq
MIRT2220572	hsa-miR-4434	CLIP-seq
MIRT2220573	hsa-miR-4436b-5p	CLIP-seq
MIRT2220574	hsa-miR-4446-3p	CLIP-seq
MIRT2220575	hsa-miR-4446-5p	CLIP-seq
MIRT2220576	hsa-miR-4453	CLIP-seq
MIRT965702	hsa-miR-4459	CLIP-seq
MIRT2220577	hsa-miR-4462	CLIP-seq
MIRT2220578	hsa-miR-4469	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT1986086	hsa-miR-4486	CLIP-seq
MIRT2220579	hsa-miR-4505	CLIP-seq
MIRT2220580	hsa-miR-450b-5p	CLIP-seq
MIRT2220581	hsa-miR-4516	CLIP-seq
MIRT2220582	hsa-miR-4529-3p	CLIP-seq
MIRT2220583	hsa-miR-4536	CLIP-seq
MIRT2220584	hsa-miR-4538	CLIP-seq
MIRT2220585	hsa-miR-4644	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT1986087	hsa-miR-4649-5p	CLIP-seq
MIRT965708	hsa-miR-4662a-3p	CLIP-seq
MIRT2220586	hsa-miR-4667-5p	CLIP-seq
MIRT2220587	hsa-miR-4685-3p	CLIP-seq
MIRT2220588	hsa-miR-4700-5p	CLIP-seq
MIRT2220589	hsa-miR-4703-3p	CLIP-seq
MIRT2220590	hsa-miR-4713-5p	CLIP-seq
MIRT2220591	hsa-miR-4718	CLIP-seq
MIRT2220592	hsa-miR-4719	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT2220593	hsa-miR-4730	CLIP-seq
MIRT2220594	hsa-miR-4755-5p	CLIP-seq
MIRT2220595	hsa-miR-4766-5p	CLIP-seq
MIRT965717	hsa-miR-4768-3p	CLIP-seq
MIRT965718	hsa-miR-4786-5p	CLIP-seq
MIRT1986088	hsa-miR-4793-3p	CLIP-seq
MIRT965719	hsa-miR-4797-5p	CLIP-seq
MIRT2220596	hsa-miR-4802-5p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT2220597	hsa-miR-488	CLIP-seq
MIRT2220598	hsa-miR-494	CLIP-seq
MIRT1986089	hsa-miR-508-5p	CLIP-seq
MIRT2220599	hsa-miR-518a-5p	CLIP-seq
MIRT1986090	hsa-miR-520a-5p	CLIP-seq
MIRT1986091	hsa-miR-525-5p	CLIP-seq
MIRT2220600	hsa-miR-527	CLIP-seq
MIRT2220601	hsa-miR-548c-3p	CLIP-seq
MIRT2220602	hsa-miR-548m	CLIP-seq
MIRT2220603	hsa-miR-548s	CLIP-seq
MIRT2220604	hsa-miR-552	CLIP-seq
MIRT2220605	hsa-miR-570	CLIP-seq
MIRT2220606	hsa-miR-577	CLIP-seq
MIRT965727	hsa-miR-579	CLIP-seq
MIRT2220607	hsa-miR-589	CLIP-seq
MIRT2220608	hsa-miR-604	CLIP-seq
MIRT2220609	hsa-miR-613	CLIP-seq
MIRT2220610	hsa-miR-623	CLIP-seq
MIRT2220611	hsa-miR-628-3p	CLIP-seq
MIRT2220612	hsa-miR-642a	CLIP-seq
MIRT2220613	hsa-miR-647	CLIP-seq
MIRT1986092	hsa-miR-661	CLIP-seq
MIRT2220614	hsa-miR-663	CLIP-seq
MIRT2220615	hsa-miR-670	CLIP-seq
MIRT2220616	hsa-miR-708	CLIP-seq
MIRT1986094	hsa-miR-766	CLIP-seq
MIRT2220617	hsa-miR-802	CLIP-seq
MIRT2220618	hsa-miR-885-3p	CLIP-seq
MIRT2220619	hsa-miR-939	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq
MIRT1986083	hsa-miR-1273	CLIP-seq
MIRT2220550	hsa-miR-339-5p	CLIP-seq
MIRT2220559	hsa-miR-3935	CLIP-seq
MIRT965698	hsa-miR-423-3p	CLIP-seq
MIRT965699	hsa-miR-4293	CLIP-seq
MIRT2220575	hsa-miR-4446-5p	CLIP-seq
MIRT1986086	hsa-miR-4486	CLIP-seq
MIRT1986087	hsa-miR-4649-5p	CLIP-seq
MIRT2220594	hsa-miR-4755-5p	CLIP-seq
MIRT965718	hsa-miR-4786-5p	CLIP-seq
MIRT1986088	hsa-miR-4793-3p	CLIP-seq
MIRT1986089	hsa-miR-508-5p	CLIP-seq
MIRT2220599	hsa-miR-518a-5p	CLIP-seq
MIRT2220600	hsa-miR-527	CLIP-seq
MIRT1986092	hsa-miR-661	CLIP-seq
MIRT2220615	hsa-miR-670	CLIP-seq
MIRT1986094	hsa-miR-766	CLIP-seq
MIRT2220519	hsa-miR-1253	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT2220542	hsa-miR-3140-5p	CLIP-seq
MIRT2220548	hsa-miR-3192	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT2220572	hsa-miR-4434	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT2220579	hsa-miR-4505	CLIP-seq
MIRT2220581	hsa-miR-4516	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT2220595	hsa-miR-4766-5p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT2220605	hsa-miR-570	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT2220530	hsa-miR-185	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT2220549	hsa-miR-330-3p	CLIP-seq
MIRT965683	hsa-miR-3614-5p	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT965698	hsa-miR-423-3p	CLIP-seq
MIRT2220570	hsa-miR-4306	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT965701	hsa-miR-4433	CLIP-seq
MIRT965702	hsa-miR-4459	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT1986086	hsa-miR-4486	CLIP-seq
MIRT2220585	hsa-miR-4644	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT1986087	hsa-miR-4649-5p	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT965717	hsa-miR-4768-3p	CLIP-seq
MIRT1986088	hsa-miR-4793-3p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT1986089	hsa-miR-508-5p	CLIP-seq
MIRT2220604	hsa-miR-552	CLIP-seq
MIRT1986092	hsa-miR-661	CLIP-seq
MIRT1986094	hsa-miR-766	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq
MIRT1986083	hsa-miR-1273	CLIP-seq
MIRT965670	hsa-miR-1827	CLIP-seq
MIRT965676	hsa-miR-3122	CLIP-seq
MIRT965683	hsa-miR-3614-5p	CLIP-seq
MIRT965689	hsa-miR-3689a-3p	CLIP-seq
MIRT965690	hsa-miR-3689c	CLIP-seq
MIRT965694	hsa-miR-3913-5p	CLIP-seq
MIRT965695	hsa-miR-3929	CLIP-seq
MIRT965696	hsa-miR-3937	CLIP-seq
MIRT965698	hsa-miR-423-3p	CLIP-seq
MIRT965700	hsa-miR-4419b	CLIP-seq
MIRT965704	hsa-miR-4478	CLIP-seq
MIRT1986086	hsa-miR-4486	CLIP-seq
MIRT965707	hsa-miR-4649-3p	CLIP-seq
MIRT1986087	hsa-miR-4649-5p	CLIP-seq
MIRT965714	hsa-miR-4728-5p	CLIP-seq
MIRT1986088	hsa-miR-4793-3p	CLIP-seq
MIRT965721	hsa-miR-485-5p	CLIP-seq
MIRT1986089	hsa-miR-508-5p	CLIP-seq
MIRT1986092	hsa-miR-661	CLIP-seq
MIRT1986094	hsa-miR-766	CLIP-seq
MIRT965733	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0031032	Process	Actomyosin structure organization	IBA

Other IDs

• MIM: 612141
• HGNC: 13278
• e!Ensembl: ENSG00000129595

Protein

• UniProt ID: Q9HCS5
• Protein name: Band 4.1-like protein 4A (Erythrocyte membrane protein band 4.1-like 4A) (Protein NBL4)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	15 → 83	FERM N-terminal domain	Domain
  PF00373	FERM_M	102 → 211	FERM central domain	Domain
  PF09380	FERM_C	215 → 303	FERM C-terminal PH-like domain	Domain
  PF08736	FA	311 → 355	FERM adjacent (FA)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues. High levels of expression in brain, liver, thymus and peripheral blood leukocytes and low levels of expression in heart, kidney, testis and colon.
• Sequence:

  MGCFCAVPEEFYCEVLLLDESKLTLTTQQQGIKKSTKGSVVLDHVFHHVNLVEIDYFGLR
  YCDRSHQTYWLDPAKTLAEHKELINTGPPYTLYFGIKFYAEDPCKLKEEITRYQFFLQVK
  QDVLQGRLPCPVNTAAQLGAYAIQSELGDYDPYKHTAGYVSEYRFVPDQKEELEEAIERI
  HKTLMGQIPSEAELNYLRTAKSLEMYGVDLHPVYGENKSEYFLGLTPVGVVVYKNKKQVG
  KYFWPRITKVHFKETQFELRVLGKDCNETSFFFEARSKTACKHLWKCSVEHHTFFRMPEN
  ESNSLSRKLSKFGSIRYKHRYSGRTALQMSRDLSIQLPRPDQNVTRSRSKTYPKRIAQTQ
  PAESNSISRITANMENGENEGTIKIIAPSPVKSFKKAKNENSPDTQRSKSHAPWEENGPQ
  SGLYNSPSDRTKSPKFPYTRRRNPSCGSDNDSVQPVRRRKAHNSGEDSDLKQRRRSRSRC
  NTSSGSESENSNREYRKKRNRIRQENDMVDSAPQWEAVLRRQKEKNQADPNNRRSRHRSR
  SRSPDIQAKEELWKHIQKELVDPSGLSEEQLKEIPYTKIETQGDPIRIRHSHSPRSYRQY
  RRSQCSDGERSVLSEVNSKTDLVPPLPVTRSSDAQGSGDATVHQRRNGSKDSLMEEKPQT
  STNNLAGKHTAKTIKTIQASRLKTET

• Sequence length: 686

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Failure to thrive	Likely pathogenic	rs730882207	RCV000162113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic	rs730882207	RCV000162113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOPENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	30764831, 36274054	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	30959550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34040677, 36611858	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	36187128	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29703930	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36187128	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35184403	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36187128	Associate	★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	29703930	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	35184403	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34116676	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	36998043	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35676670	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37418994	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31403267	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33203992	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33203992	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	GWASCAT_DG	28195142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	28195142	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32377727	Associate	★☆☆☆☆ Found in Text Mining only