NBPF3 (NBPF member 3)

Gene

• Entrez ID: 84224
• Gene name: NBPF member 3
• Gene symbol: NBPF3
• Synonyms (NCBI Gene): AE2
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT647756	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT647757	hsa-miR-5193	HITS-CLIP	23824327
MIRT647755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT647754	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT647753	hsa-miR-4279	HITS-CLIP	23824327
MIRT573035	hsa-miR-3617-5p	PAR-CLIP	20371350
MIRT573034	hsa-miR-641	PAR-CLIP	20371350
MIRT573033	hsa-miR-1324	PAR-CLIP	20371350
MIRT573032	hsa-miR-8060	PAR-CLIP	20371350
MIRT573031	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT573030	hsa-miR-549a	PAR-CLIP	20371350
MIRT573029	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT573027	hsa-miR-3942-3p	PAR-CLIP	20371350
MIRT573028	hsa-miR-30a-3p	PAR-CLIP	20371350
MIRT573026	hsa-miR-30d-3p	PAR-CLIP	20371350
MIRT573025	hsa-miR-30e-3p	PAR-CLIP	20371350
MIRT446875	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT446874	hsa-miR-4255	PAR-CLIP	22100165
MIRT446873	hsa-miR-4431	PAR-CLIP	22100165
MIRT446872	hsa-miR-3137	PAR-CLIP	22100165
MIRT446871	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT446869	hsa-miR-4522	PAR-CLIP	22100165
MIRT446870	hsa-miR-6073	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446868	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT446867	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446865	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446864	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT446875	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT446874	hsa-miR-4255	PAR-CLIP	22100165
MIRT446873	hsa-miR-4431	PAR-CLIP	22100165
MIRT446872	hsa-miR-3137	PAR-CLIP	22100165
MIRT446871	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT446869	hsa-miR-4522	PAR-CLIP	22100165
MIRT446870	hsa-miR-6073	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446868	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT446867	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446865	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446864	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT647756	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT647757	hsa-miR-5193	HITS-CLIP	23824327
MIRT647755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT647754	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT647753	hsa-miR-4279	HITS-CLIP	23824327
MIRT573035	hsa-miR-3617-5p	PAR-CLIP	20371350
MIRT573034	hsa-miR-641	PAR-CLIP	20371350
MIRT573033	hsa-miR-1324	PAR-CLIP	20371350
MIRT573032	hsa-miR-8060	PAR-CLIP	20371350
MIRT573031	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT573030	hsa-miR-549a	PAR-CLIP	20371350
MIRT573029	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT573027	hsa-miR-3942-3p	PAR-CLIP	20371350
MIRT573028	hsa-miR-30a-3p	PAR-CLIP	20371350
MIRT573026	hsa-miR-30d-3p	PAR-CLIP	20371350
MIRT573025	hsa-miR-30e-3p	PAR-CLIP	20371350
MIRT446875	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT446874	hsa-miR-4255	PAR-CLIP	22100165
MIRT446873	hsa-miR-4431	PAR-CLIP	22100165
MIRT446872	hsa-miR-3137	PAR-CLIP	22100165
MIRT446871	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT446869	hsa-miR-4522	PAR-CLIP	22100165
MIRT446870	hsa-miR-6073	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446868	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT446867	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446865	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446864	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT446875	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT446874	hsa-miR-4255	PAR-CLIP	22100165
MIRT446873	hsa-miR-4431	PAR-CLIP	22100165
MIRT446872	hsa-miR-3137	PAR-CLIP	22100165
MIRT446871	hsa-miR-20b-3p	PAR-CLIP	22100165
MIRT446869	hsa-miR-4522	PAR-CLIP	22100165
MIRT446870	hsa-miR-6073	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446868	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT446867	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT446866	hsa-miR-142-3p	PAR-CLIP	22100165
MIRT446865	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT446864	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT1175488	hsa-miR-1255a	CLIP-seq
MIRT1175489	hsa-miR-1255b	CLIP-seq
MIRT1175490	hsa-miR-1910	CLIP-seq
MIRT1175491	hsa-miR-2681	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT1175493	hsa-miR-3591-3p	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT1175495	hsa-miR-3617	CLIP-seq
MIRT1175496	hsa-miR-3622b-5p	CLIP-seq
MIRT1175497	hsa-miR-3668	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT1175499	hsa-miR-425	CLIP-seq
MIRT1175500	hsa-miR-4251	CLIP-seq
MIRT1175501	hsa-miR-4252	CLIP-seq
MIRT1175502	hsa-miR-4329	CLIP-seq
MIRT1175503	hsa-miR-433	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175507	hsa-miR-4475	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT1175509	hsa-miR-4527	CLIP-seq
MIRT1175510	hsa-miR-4680-3p	CLIP-seq
MIRT1175511	hsa-miR-4701-5p	CLIP-seq
MIRT1175512	hsa-miR-4720-5p	CLIP-seq
MIRT1175513	hsa-miR-4727-3p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT1175515	hsa-miR-4799-3p	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT1175517	hsa-miR-549	CLIP-seq
MIRT1175518	hsa-miR-552	CLIP-seq
MIRT1175519	hsa-miR-556-5p	CLIP-seq
MIRT1175520	hsa-miR-580	CLIP-seq
MIRT1175521	hsa-miR-588	CLIP-seq
MIRT1175522	hsa-miR-610	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq
MIRT2050783	hsa-miR-1202	CLIP-seq
MIRT2050784	hsa-miR-1207-5p	CLIP-seq
MIRT2050785	hsa-miR-124	CLIP-seq
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT1175488	hsa-miR-1255a	CLIP-seq
MIRT1175489	hsa-miR-1255b	CLIP-seq
MIRT2050786	hsa-miR-1304	CLIP-seq
MIRT2050787	hsa-miR-135a	CLIP-seq
MIRT2050788	hsa-miR-135b	CLIP-seq
MIRT2050789	hsa-miR-1470	CLIP-seq
MIRT2050790	hsa-miR-155	CLIP-seq
MIRT1175490	hsa-miR-1910	CLIP-seq
MIRT2050791	hsa-miR-1914	CLIP-seq
MIRT1175491	hsa-miR-2681	CLIP-seq
MIRT2050792	hsa-miR-30a	CLIP-seq
MIRT2050793	hsa-miR-30b	CLIP-seq
MIRT2050794	hsa-miR-30c	CLIP-seq
MIRT2050795	hsa-miR-30d	CLIP-seq
MIRT2050796	hsa-miR-30e	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT2050797	hsa-miR-3134	CLIP-seq
MIRT2050798	hsa-miR-3152-3p	CLIP-seq
MIRT2050799	hsa-miR-3157-5p	CLIP-seq
MIRT2050800	hsa-miR-3180-5p	CLIP-seq
MIRT2050801	hsa-miR-3194-5p	CLIP-seq
MIRT2050802	hsa-miR-345	CLIP-seq
MIRT1175493	hsa-miR-3591-3p	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT2050803	hsa-miR-3646	CLIP-seq
MIRT2050804	hsa-miR-3684	CLIP-seq
MIRT2050805	hsa-miR-3919	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT2050806	hsa-miR-3972	CLIP-seq
MIRT1175503	hsa-miR-433	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT2050807	hsa-miR-4514	CLIP-seq
MIRT2050808	hsa-miR-4520a-3p	CLIP-seq
MIRT2050809	hsa-miR-4520b-3p	CLIP-seq
MIRT2050810	hsa-miR-4529-3p	CLIP-seq
MIRT2050811	hsa-miR-4534	CLIP-seq
MIRT2050812	hsa-miR-4661-3p	CLIP-seq
MIRT2050813	hsa-miR-4666-3p	CLIP-seq
MIRT2050814	hsa-miR-4667-3p	CLIP-seq
MIRT1175510	hsa-miR-4680-3p	CLIP-seq
MIRT2050815	hsa-miR-4691-3p	CLIP-seq
MIRT2050816	hsa-miR-4692	CLIP-seq
MIRT2050817	hsa-miR-4704-5p	CLIP-seq
MIRT2050818	hsa-miR-4728-3p	CLIP-seq
MIRT2050819	hsa-miR-4738-5p	CLIP-seq
MIRT2050820	hsa-miR-4756-3p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT2050821	hsa-miR-4763-3p	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT2050822	hsa-miR-495	CLIP-seq
MIRT2050823	hsa-miR-506	CLIP-seq
MIRT2050824	hsa-miR-513a-3p	CLIP-seq
MIRT2050825	hsa-miR-548ad	CLIP-seq
MIRT2050826	hsa-miR-548an	CLIP-seq
MIRT2050827	hsa-miR-548p	CLIP-seq
MIRT1175519	hsa-miR-556-5p	CLIP-seq
MIRT2050828	hsa-miR-603	CLIP-seq
MIRT1175522	hsa-miR-610	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq
MIRT2050829	hsa-miR-940	CLIP-seq
MIRT2050784	hsa-miR-1207-5p	CLIP-seq
MIRT2050785	hsa-miR-124	CLIP-seq
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT1175488	hsa-miR-1255a	CLIP-seq
MIRT1175489	hsa-miR-1255b	CLIP-seq
MIRT2050787	hsa-miR-135a	CLIP-seq
MIRT2050788	hsa-miR-135b	CLIP-seq
MIRT2279882	hsa-miR-150	CLIP-seq
MIRT2279883	hsa-miR-1587	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT1175493	hsa-miR-3591-3p	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT2050803	hsa-miR-3646	CLIP-seq
MIRT2279884	hsa-miR-3662	CLIP-seq
MIRT2279885	hsa-miR-369-3p	CLIP-seq
MIRT2279886	hsa-miR-374a	CLIP-seq
MIRT2279887	hsa-miR-374b	CLIP-seq
MIRT2279888	hsa-miR-3913-3p	CLIP-seq
MIRT2050805	hsa-miR-3919	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT2279889	hsa-miR-3978	CLIP-seq
MIRT1175499	hsa-miR-425	CLIP-seq
MIRT2279890	hsa-miR-4261	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT2279891	hsa-miR-4492	CLIP-seq
MIRT2279892	hsa-miR-4498	CLIP-seq
MIRT2050807	hsa-miR-4514	CLIP-seq
MIRT2279893	hsa-miR-4639-3p	CLIP-seq
MIRT2279894	hsa-miR-4656	CLIP-seq
MIRT2279895	hsa-miR-4675	CLIP-seq
MIRT2050816	hsa-miR-4692	CLIP-seq
MIRT2279896	hsa-miR-4698	CLIP-seq
MIRT2279897	hsa-miR-4713-5p	CLIP-seq
MIRT2050819	hsa-miR-4738-5p	CLIP-seq
MIRT2279898	hsa-miR-4741	CLIP-seq
MIRT2050820	hsa-miR-4756-3p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT2050821	hsa-miR-4763-3p	CLIP-seq
MIRT2279899	hsa-miR-4763-5p	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT2279900	hsa-miR-489	CLIP-seq
MIRT2050823	hsa-miR-506	CLIP-seq
MIRT2050824	hsa-miR-513a-3p	CLIP-seq
MIRT2279901	hsa-miR-532-3p	CLIP-seq
MIRT2279902	hsa-miR-548aa	CLIP-seq
MIRT2279903	hsa-miR-548ac	CLIP-seq
MIRT2050826	hsa-miR-548an	CLIP-seq
MIRT2279904	hsa-miR-548d-3p	CLIP-seq
MIRT2279905	hsa-miR-548z	CLIP-seq
MIRT1175519	hsa-miR-556-5p	CLIP-seq
MIRT1175522	hsa-miR-610	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq
MIRT2279906	hsa-miR-762	CLIP-seq
MIRT2050829	hsa-miR-940	CLIP-seq
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT2050787	hsa-miR-135a	CLIP-seq
MIRT2050788	hsa-miR-135b	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT2391401	hsa-miR-3170	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT2391402	hsa-miR-4684-5p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq
MIRT2391403	hsa-miR-888	CLIP-seq
MIRT2391404	hsa-miR-942	CLIP-seq
MIRT2050783	hsa-miR-1202	CLIP-seq
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT2578393	hsa-miR-2115	CLIP-seq
MIRT2578394	hsa-miR-2116	CLIP-seq
MIRT2578395	hsa-miR-2392	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT2050801	hsa-miR-3194-5p	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT2050803	hsa-miR-3646	CLIP-seq
MIRT2279884	hsa-miR-3662	CLIP-seq
MIRT2578396	hsa-miR-378g	CLIP-seq
MIRT2050805	hsa-miR-3919	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT2050806	hsa-miR-3972	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT2279896	hsa-miR-4698	CLIP-seq
MIRT2578397	hsa-miR-4700-3p	CLIP-seq
MIRT2050820	hsa-miR-4756-3p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT2279899	hsa-miR-4763-5p	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT2578398	hsa-miR-488	CLIP-seq
MIRT2578399	hsa-miR-5095	CLIP-seq
MIRT2578400	hsa-miR-593	CLIP-seq
MIRT2578401	hsa-miR-626	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq
MIRT2050783	hsa-miR-1202	CLIP-seq
MIRT1175487	hsa-miR-1252	CLIP-seq
MIRT2685882	hsa-miR-125a-5p	CLIP-seq
MIRT2685883	hsa-miR-125b	CLIP-seq
MIRT2578393	hsa-miR-2115	CLIP-seq
MIRT2578394	hsa-miR-2116	CLIP-seq
MIRT2578395	hsa-miR-2392	CLIP-seq
MIRT1175492	hsa-miR-3117-5p	CLIP-seq
MIRT2050801	hsa-miR-3194-5p	CLIP-seq
MIRT1175494	hsa-miR-3612	CLIP-seq
MIRT2050803	hsa-miR-3646	CLIP-seq
MIRT2279884	hsa-miR-3662	CLIP-seq
MIRT2578396	hsa-miR-378g	CLIP-seq
MIRT2685884	hsa-miR-3915	CLIP-seq
MIRT2050805	hsa-miR-3919	CLIP-seq
MIRT2685885	hsa-miR-3928	CLIP-seq
MIRT1175498	hsa-miR-3929	CLIP-seq
MIRT2050806	hsa-miR-3972	CLIP-seq
MIRT2685886	hsa-miR-4319	CLIP-seq
MIRT1175504	hsa-miR-4419b	CLIP-seq
MIRT1175505	hsa-miR-4443	CLIP-seq
MIRT1175506	hsa-miR-4468	CLIP-seq
MIRT1175508	hsa-miR-4478	CLIP-seq
MIRT2279896	hsa-miR-4698	CLIP-seq
MIRT2578397	hsa-miR-4700-3p	CLIP-seq
MIRT2050820	hsa-miR-4756-3p	CLIP-seq
MIRT1175514	hsa-miR-4759	CLIP-seq
MIRT2279899	hsa-miR-4763-5p	CLIP-seq
MIRT1175516	hsa-miR-485-5p	CLIP-seq
MIRT2578399	hsa-miR-5095	CLIP-seq
MIRT2685887	hsa-miR-544b	CLIP-seq
MIRT2578400	hsa-miR-593	CLIP-seq
MIRT2578401	hsa-miR-626	CLIP-seq
MIRT1175523	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA

Other IDs

• MIM: 612992
• HGNC: 25076
• e!Ensembl: ENSG00000142794

Protein

• UniProt ID: Q9H094
• Protein name: NBPF family member NBPF3 (Neuroblastoma breakpoint family member 3) (Protein AE2) (Protein SHIIIa4)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06758	Olduvai	234 → 296	Olduvai domain	Domain
  PF06758	Olduvai	320 → 382	Olduvai domain	Domain
  PF06758	Olduvai	392 → 457	Olduvai domain	Domain
  PF06758	Olduvai	467 → 532	Olduvai domain	Domain
  PF06758	Olduvai	542 → 607	Olduvai domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis and fetal heart, as well as in non small cell lung carcinoma and neuroblastoma cell line. {ECO:0000269|PubMed:16079250}.
• Sequence:

  MPLTPTVQGFQWTLRGPDVETSPFGAPRAASHGVGRHQELRDPTVPGPTSSATNVSMVVS
  AGPWSGEKAEMNILEINKKSRPQLAENKQQFRNLKQKCLVTQVAYFLANRQNNYDYEDCK
  DLIKSMLRDERLLTEEKLAEELGQAEELRQYKVLVHSQERELTQLREKLQEGRDASRSLN
  QHLQALLTPDEPDNSQGRDLREQLAEGCRLAQHLVQKLSPENDDDEDEDVKVEEAEKVQE
  LYAPREVQKAEEKEVPEDSLEECAITCSNSHHPCESNQPYGNTRITFEEDQVDSTLIDSS
  SHDEWLDAVCIIPENESDHEQEEEKGPVSPRNLQESEEEEAPQESWDEGDWTLSIPPDMS
  ASYQSDRSTFHSVEEQQVGLALDIGRHWCDQVKKEDQEATSPRLSRELLDEKEPEVLQDS
  LDRFYSTPFEYLELPDLCQPYRSDFYSLQEQHLGLALDLDRMKKDQEEEEDQGPPCPRLS
  RELPEVVEPEDLQDSLDRWYSTPFSYPELPDSCQPYGSCFYSLEEEHVGFSLDVDEIEKY
  QEGEEDQKPPCPRLNEVLMEAEEPEVLQDSLDRCYSTTSTYFQLHASFQQYRSAFYSFEE
  QDVSLALDVDNRFFTLTVIRHHLAFQMGVIFPH

• Sequence length: 633

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29191842		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	30358741	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19224338		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21691115		★☆☆☆☆ Found in Text Mining only