NHERF2 (NHERF family PDZ scaffold protein 2)

Gene

• Entrez ID: 9351
• Gene name: NHERF family PDZ scaffold protein 2
• Gene symbol: NHERF2
• Synonyms (NCBI Gene): E3KARP, NHE3RF2, NHERF-2, OCTS2, SIP-1, SIP1, SLC9A3R2, TKA-1
• Chromosome: 16
• Chromosome location: 16p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005146	hsa-miR-30a-5p	pSILAC	18668040
MIRT005146	hsa-miR-30a-5p	pSILAC	18668040
MIRT020575	hsa-miR-155-5p	Proteomics	18668040
MIRT005146	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT045974	hsa-miR-125b-5p	CLASH	23622248
MIRT618018	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT618017	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618016	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618009	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT618007	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT618006	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT618005	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT618004	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618003	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT618002	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT618018	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT618017	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618016	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618015	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT618014	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT618013	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT618012	hsa-miR-3921	HITS-CLIP	23824327
MIRT618011	hsa-miR-4653-5p	HITS-CLIP	23824327
MIRT618010	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT618009	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT618008	hsa-miR-4522	HITS-CLIP	23824327
MIRT618007	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT618006	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT618005	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT618004	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618003	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT618002	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT486846	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT486845	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT486844	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT486843	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT486842	hsa-miR-5698	PAR-CLIP	23592263
MIRT486841	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT486840	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT618018	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT618017	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618016	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618009	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT618007	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT618006	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT618005	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT618004	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618003	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT618002	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT618018	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT618017	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT618016	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT618015	hsa-miR-146a-3p	HITS-CLIP	23824327
MIRT618014	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT618013	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT618012	hsa-miR-3921	HITS-CLIP	23824327
MIRT618011	hsa-miR-4653-5p	HITS-CLIP	23824327
MIRT618010	hsa-miR-345-5p	HITS-CLIP	23824327
MIRT618009	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT618008	hsa-miR-4522	HITS-CLIP	23824327
MIRT618007	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT618006	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT618005	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT618004	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT618003	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT618002	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT486846	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT486845	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT486844	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT486843	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT486842	hsa-miR-5698	PAR-CLIP	23592263
MIRT486841	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT486840	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1368789	hsa-miR-1207-5p	CLIP-seq
MIRT1368790	hsa-miR-1270	CLIP-seq
MIRT1368791	hsa-miR-1275	CLIP-seq
MIRT1368792	hsa-miR-1303	CLIP-seq
MIRT1368793	hsa-miR-137	CLIP-seq
MIRT1368794	hsa-miR-147	CLIP-seq
MIRT1368795	hsa-miR-15a	CLIP-seq
MIRT1368796	hsa-miR-15b	CLIP-seq
MIRT1368797	hsa-miR-16	CLIP-seq
MIRT1368798	hsa-miR-1909	CLIP-seq
MIRT1368799	hsa-miR-195	CLIP-seq
MIRT1368800	hsa-miR-214	CLIP-seq
MIRT1368801	hsa-miR-2278	CLIP-seq
MIRT1368802	hsa-miR-2392	CLIP-seq
MIRT1368803	hsa-miR-2467-5p	CLIP-seq
MIRT1368804	hsa-miR-25	CLIP-seq
MIRT1368805	hsa-miR-3064-3p	CLIP-seq
MIRT1368806	hsa-miR-3135b	CLIP-seq
MIRT1368807	hsa-miR-3136-3p	CLIP-seq
MIRT1368808	hsa-miR-3148	CLIP-seq
MIRT1368809	hsa-miR-3179	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT1368811	hsa-miR-3188	CLIP-seq
MIRT1368812	hsa-miR-32	CLIP-seq
MIRT1368813	hsa-miR-3202	CLIP-seq
MIRT1368814	hsa-miR-361-3p	CLIP-seq
MIRT1368815	hsa-miR-3619-5p	CLIP-seq
MIRT1368816	hsa-miR-363	CLIP-seq
MIRT1368817	hsa-miR-367	CLIP-seq
MIRT1368818	hsa-miR-3911	CLIP-seq
MIRT1368819	hsa-miR-3929	CLIP-seq
MIRT1368820	hsa-miR-3975	CLIP-seq
MIRT1368821	hsa-miR-3978	CLIP-seq
MIRT1368822	hsa-miR-424	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368824	hsa-miR-4271	CLIP-seq
MIRT1368825	hsa-miR-4283	CLIP-seq
MIRT1368826	hsa-miR-4284	CLIP-seq
MIRT1368827	hsa-miR-4291	CLIP-seq
MIRT1368828	hsa-miR-4300	CLIP-seq
MIRT1368829	hsa-miR-4419b	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368831	hsa-miR-4437	CLIP-seq
MIRT1368832	hsa-miR-4456	CLIP-seq
MIRT1368833	hsa-miR-4478	CLIP-seq
MIRT1368834	hsa-miR-4487	CLIP-seq
MIRT1368835	hsa-miR-4488	CLIP-seq
MIRT1368836	hsa-miR-4505	CLIP-seq
MIRT1368837	hsa-miR-4508	CLIP-seq
MIRT1368838	hsa-miR-4525	CLIP-seq
MIRT1368839	hsa-miR-4633-3p	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368841	hsa-miR-4649-3p	CLIP-seq
MIRT1368842	hsa-miR-4655-5p	CLIP-seq
MIRT1368843	hsa-miR-4665-5p	CLIP-seq
MIRT1368844	hsa-miR-4683	CLIP-seq
MIRT1368845	hsa-miR-4688	CLIP-seq
MIRT1368846	hsa-miR-4690-5p	CLIP-seq
MIRT1368847	hsa-miR-4697-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368849	hsa-miR-4704-3p	CLIP-seq
MIRT1368850	hsa-miR-4707-5p	CLIP-seq
MIRT1368851	hsa-miR-4712-5p	CLIP-seq
MIRT1368852	hsa-miR-4716-3p	CLIP-seq
MIRT1368853	hsa-miR-4719	CLIP-seq
MIRT1368854	hsa-miR-4725-3p	CLIP-seq
MIRT1368855	hsa-miR-4728-5p	CLIP-seq
MIRT1368856	hsa-miR-4731-5p	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368858	hsa-miR-4763-3p	CLIP-seq
MIRT1368859	hsa-miR-485-5p	CLIP-seq
MIRT1368860	hsa-miR-486-3p	CLIP-seq
MIRT1368861	hsa-miR-497	CLIP-seq
MIRT1368862	hsa-miR-541	CLIP-seq
MIRT1368863	hsa-miR-545	CLIP-seq
MIRT1368864	hsa-miR-548p	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT1368867	hsa-miR-593	CLIP-seq
MIRT1368868	hsa-miR-619	CLIP-seq
MIRT1368869	hsa-miR-620	CLIP-seq
MIRT1368870	hsa-miR-625	CLIP-seq
MIRT1368871	hsa-miR-637	CLIP-seq
MIRT1368872	hsa-miR-644	CLIP-seq
MIRT1368873	hsa-miR-654-5p	CLIP-seq
MIRT1368874	hsa-miR-761	CLIP-seq
MIRT1368875	hsa-miR-770-5p	CLIP-seq
MIRT1368876	hsa-miR-920	CLIP-seq
MIRT1368877	hsa-miR-922	CLIP-seq
MIRT1368878	hsa-miR-92a	CLIP-seq
MIRT1368879	hsa-miR-92b	CLIP-seq
MIRT1368880	hsa-miR-939	CLIP-seq
MIRT1368881	hsa-miR-944	CLIP-seq
MIRT1368793	hsa-miR-137	CLIP-seq
MIRT1368882	hsa-miR-1908	CLIP-seq
MIRT1368883	hsa-miR-2467-3p	CLIP-seq
MIRT1368804	hsa-miR-25	CLIP-seq
MIRT1368884	hsa-miR-3180	CLIP-seq
MIRT1368885	hsa-miR-3180-3p	CLIP-seq
MIRT1368886	hsa-miR-3184	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT1368887	hsa-miR-3196	CLIP-seq
MIRT1368812	hsa-miR-32	CLIP-seq
MIRT1368816	hsa-miR-363	CLIP-seq
MIRT1368817	hsa-miR-367	CLIP-seq
MIRT1368888	hsa-miR-3678-3p	CLIP-seq
MIRT1368889	hsa-miR-3919	CLIP-seq
MIRT1368890	hsa-miR-423-5p	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368891	hsa-miR-4464	CLIP-seq
MIRT1368835	hsa-miR-4488	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368892	hsa-miR-4663	CLIP-seq
MIRT1368847	hsa-miR-4697-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368893	hsa-miR-4706	CLIP-seq
MIRT1368855	hsa-miR-4728-5p	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368894	hsa-miR-4748	CLIP-seq
MIRT1368895	hsa-miR-4749-5p	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT1368867	hsa-miR-593	CLIP-seq
MIRT1368896	hsa-miR-663	CLIP-seq
MIRT1368878	hsa-miR-92a	CLIP-seq
MIRT1368879	hsa-miR-92b	CLIP-seq
MIRT1368881	hsa-miR-944	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT1368803	hsa-miR-2467-5p	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT1368811	hsa-miR-3188	CLIP-seq
MIRT1368820	hsa-miR-3975	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368855	hsa-miR-4728-5p	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368859	hsa-miR-485-5p	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT1368867	hsa-miR-593	CLIP-seq
MIRT1368880	hsa-miR-939	CLIP-seq
MIRT1368789	hsa-miR-1207-5p	CLIP-seq
MIRT1368791	hsa-miR-1275	CLIP-seq
MIRT2332804	hsa-miR-1285	CLIP-seq
MIRT2332805	hsa-miR-1286	CLIP-seq
MIRT1368798	hsa-miR-1909	CLIP-seq
MIRT1368802	hsa-miR-2392	CLIP-seq
MIRT1368803	hsa-miR-2467-5p	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT2332806	hsa-miR-3187-5p	CLIP-seq
MIRT1368811	hsa-miR-3188	CLIP-seq
MIRT2332807	hsa-miR-378g	CLIP-seq
MIRT2332808	hsa-miR-3925-3p	CLIP-seq
MIRT1368819	hsa-miR-3929	CLIP-seq
MIRT1368820	hsa-miR-3975	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368825	hsa-miR-4283	CLIP-seq
MIRT1368826	hsa-miR-4284	CLIP-seq
MIRT1368828	hsa-miR-4300	CLIP-seq
MIRT2332809	hsa-miR-4314	CLIP-seq
MIRT1368829	hsa-miR-4419b	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368831	hsa-miR-4437	CLIP-seq
MIRT1368832	hsa-miR-4456	CLIP-seq
MIRT1368833	hsa-miR-4478	CLIP-seq
MIRT2332810	hsa-miR-4486	CLIP-seq
MIRT1368835	hsa-miR-4488	CLIP-seq
MIRT2332811	hsa-miR-4489	CLIP-seq
MIRT2332812	hsa-miR-4492	CLIP-seq
MIRT2332813	hsa-miR-4498	CLIP-seq
MIRT1368836	hsa-miR-4505	CLIP-seq
MIRT1368837	hsa-miR-4508	CLIP-seq
MIRT1368838	hsa-miR-4525	CLIP-seq
MIRT2332814	hsa-miR-455-3p	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368841	hsa-miR-4649-3p	CLIP-seq
MIRT1368842	hsa-miR-4655-5p	CLIP-seq
MIRT2332815	hsa-miR-4656	CLIP-seq
MIRT1368843	hsa-miR-4665-5p	CLIP-seq
MIRT1368845	hsa-miR-4688	CLIP-seq
MIRT1368847	hsa-miR-4697-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368856	hsa-miR-4731-5p	CLIP-seq
MIRT2332816	hsa-miR-4736	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368858	hsa-miR-4763-3p	CLIP-seq
MIRT1368859	hsa-miR-485-5p	CLIP-seq
MIRT1368860	hsa-miR-486-3p	CLIP-seq
MIRT1368862	hsa-miR-541	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT2332817	hsa-miR-612	CLIP-seq
MIRT1368870	hsa-miR-625	CLIP-seq
MIRT1368871	hsa-miR-637	CLIP-seq
MIRT1368873	hsa-miR-654-5p	CLIP-seq
MIRT2332818	hsa-miR-762	CLIP-seq
MIRT1368876	hsa-miR-920	CLIP-seq
MIRT1368880	hsa-miR-939	CLIP-seq
MIRT1368810	hsa-miR-3187-3p	CLIP-seq
MIRT1368823	hsa-miR-4252	CLIP-seq
MIRT1368830	hsa-miR-4435	CLIP-seq
MIRT1368840	hsa-miR-4646-5p	CLIP-seq
MIRT1368848	hsa-miR-4701-5p	CLIP-seq
MIRT1368857	hsa-miR-4747-5p	CLIP-seq
MIRT1368865	hsa-miR-548s	CLIP-seq
MIRT1368866	hsa-miR-588	CLIP-seq
MIRT2459933	hsa-miR-1915	CLIP-seq
MIRT2459934	hsa-miR-3156-3p	CLIP-seq
MIRT2459935	hsa-miR-3664-3p	CLIP-seq
MIRT2459936	hsa-miR-4301	CLIP-seq
MIRT2459937	hsa-miR-4726-3p	CLIP-seq
MIRT2459938	hsa-miR-510	CLIP-seq
MIRT2459939	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	16456542
GO:0005515	Function	Protein binding	IPI	9054412, 11285285, 11786550, 12369822, 12444019, 15523054, 16166090, 16203867, 16456542, 16615918, 17110338, 17242191, 17979986, 19027007, 19555689, 20618342, 22587461, 24255178, 25519916, 26618866, 27018634, 27173435, 28360110, 31324722, 32296183, 33961781, 35271311, 36012204
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9054412
GO:0005886	Component	Plasma membrane	IDA	11786550
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9748260
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	17242191
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019902	Function	Phosphatase binding	IPI	16456542
GO:0031799	Function	Type 2 metabotropic glutamate receptor binding	ISS
GO:0031800	Function	Type 3 metabotropic glutamate receptor binding	ISS
GO:0042802	Function	Identical protein binding	IPI	22587461
GO:0043495	Function	Protein-membrane adaptor activity	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	9748260
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072659	Process	Protein localization to plasma membrane	IBA

Other IDs

• MIM: 606553
• HGNC: 11076
• e!Ensembl: ENSG00000065054

Protein

• UniProt ID: Q15599
• Protein name: Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (NHERF-2) (NHE3 kinase A regulatory protein E3KARP) (SRY-interacting protein 1) (SIP-1) (Sodium-hydrogen exchanger regulatory factor 2) (Solute carrier family 9 isoform A3 regulatory factor 2) (Tyrosine kina
• Protein function: Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylatio
• PDB: 2D11, 2HE4, 2OCS, 4P0C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	12 → 88	PDZ domain	Domain
  PF00595	PDZ	151 → 228	PDZ domain	Domain
  PF09007	EBP50_C	232 → 278	EBP50, C-terminal	Domain
  PF09007	EBP50_C	261 → 337	EBP50, C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9054412, ECO:0000269|PubMed:9096337}.
• Sequence:

  MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSPAEAAALRAGDRLVEVN
  GVNVEGETHHQVVQRIKAVEGQTRLLVVDQETDEELRRRQLTCTEEMAQRGLPPAHDPWE
  PKPDWAHTGSHSSEAGKKDVSGPLRELRPRLCHLRKGPQGYGFNLHSDKSRPGQYIRSVD
  PGSPAARSGLRAQDRLIEVNGQNVEGLRHAEVVASIKAREDEARLLVVDPETDEHFKRLR
  VTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSRSDLPGSDKDTEDGSAWKQDPFQESGL
  HLSPTAAEAKEKARAMRVNKRAPQMDWNRKREIFSNF

• Sequence length: 337

Pathways

KEGG:

Aldosterone-regulated sodium reabsorption

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
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21134377		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	22103974		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12369822		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	26867566		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	28887601		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28421464		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21617757		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22103974, 28887601		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22103974, 28887601		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30111501		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	GWASDB_DG	20098615		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19706487		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16568083, 24771346		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16273209, 17299729		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33059309	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19706487		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19536615		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	19381684		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	23143680		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30119219		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30119219		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15252840		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15728708		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21134377		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26867566		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	17258401		★☆☆☆☆ Found in Text Mining only
Cystic Disease Of Lung	Cystic lung disease	Pubtator	26140448	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28455101		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	12784289, 16618617, 24576558, 29600337		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	34662886	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28423728		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17660978		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15026811, 16461895, 21645397		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30867848	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	16996643		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16568083, 24771346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20715109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19536615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20551052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12414534, 28662499		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19706487		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15026811, 16996643, 19536615, 19706487, 20551052, 26867566, 28662499		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30119219		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15252840		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16568083		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	16088920, 17103451		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	12784289		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	11943600		★☆☆☆☆ Found in Text Mining only
Mowat-Wilson syndrome	Mowat-Wilson Syndrome	BEFREE	18182442, 18812405, 24243579, 26319231, 30056076, 30266271		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	16088920, 17103451		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20452118, 21645397, 22343917, 23150175, 24771346, 26867566, 31597772		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19846957, 20452118		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	19536615		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20551052		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	23150175		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	17258401		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	26319231		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10562276, 10909848, 11181573, 9323129		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16273209, 19381684		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21913013, 24887090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21913013		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12414534, 28662499		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31597772	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16611372		★☆☆☆☆ Found in Text Mining only