RAPGEF6 (Rap guanine nucleotide exchange factor 6)

Gene

• Entrez ID: 51735
• Gene name: Rap guanine nucleotide exchange factor 6
• Gene symbol: RAPGEF6
• Synonyms (NCBI Gene): KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2
• Chromosome: 5
• Chromosome location: 5q31.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030847	hsa-miR-21-5p	Microarray	18591254
MIRT036590	hsa-miR-940	CLASH	23622248
MIRT720726	hsa-miR-4698	HITS-CLIP	19536157
MIRT720725	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT720724	hsa-miR-4267	HITS-CLIP	19536157
MIRT720723	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT720722	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT720721	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT720720	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720719	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720718	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT720717	hsa-miR-4268	HITS-CLIP	19536157
MIRT720716	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT720715	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT720714	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT720713	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT720712	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT726784	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726783	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT720726	hsa-miR-4698	HITS-CLIP	19536157
MIRT720725	hsa-miR-6736-3p	HITS-CLIP	19536157
MIRT720724	hsa-miR-4267	HITS-CLIP	19536157
MIRT720723	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT720722	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT720721	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT720720	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720719	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720718	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT720717	hsa-miR-4268	HITS-CLIP	19536157
MIRT720716	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT720715	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT720714	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT720713	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT720712	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT1290906	hsa-miR-1270	CLIP-seq
MIRT1290907	hsa-miR-1273e	CLIP-seq
MIRT1290908	hsa-miR-1286	CLIP-seq
MIRT1290909	hsa-miR-130a	CLIP-seq
MIRT1290910	hsa-miR-130b	CLIP-seq
MIRT1290911	hsa-miR-1324	CLIP-seq
MIRT1290912	hsa-miR-135a	CLIP-seq
MIRT1290913	hsa-miR-135b	CLIP-seq
MIRT1290914	hsa-miR-142-5p	CLIP-seq
MIRT1290915	hsa-miR-1470	CLIP-seq
MIRT1290916	hsa-miR-205	CLIP-seq
MIRT1290917	hsa-miR-219-2-3p	CLIP-seq
MIRT1290918	hsa-miR-2355-3p	CLIP-seq
MIRT1290919	hsa-miR-2964a-3p	CLIP-seq
MIRT1290920	hsa-miR-301a	CLIP-seq
MIRT1290921	hsa-miR-301b	CLIP-seq
MIRT1290922	hsa-miR-3119	CLIP-seq
MIRT1290923	hsa-miR-3140-3p	CLIP-seq
MIRT1290924	hsa-miR-3153	CLIP-seq
MIRT1290925	hsa-miR-3157-5p	CLIP-seq
MIRT1290926	hsa-miR-3163	CLIP-seq
MIRT1290927	hsa-miR-3166	CLIP-seq
MIRT1290928	hsa-miR-3173-3p	CLIP-seq
MIRT1290929	hsa-miR-340	CLIP-seq
MIRT1290930	hsa-miR-3614-5p	CLIP-seq
MIRT1290931	hsa-miR-365	CLIP-seq
MIRT1290932	hsa-miR-3666	CLIP-seq
MIRT1290933	hsa-miR-3940-5p	CLIP-seq
MIRT1290934	hsa-miR-3978	CLIP-seq
MIRT1290935	hsa-miR-4282	CLIP-seq
MIRT1290936	hsa-miR-4295	CLIP-seq
MIRT1290937	hsa-miR-4424	CLIP-seq
MIRT1290938	hsa-miR-4469	CLIP-seq
MIRT1290939	hsa-miR-4477a	CLIP-seq
MIRT1290940	hsa-miR-4507	CLIP-seq
MIRT1290941	hsa-miR-454	CLIP-seq
MIRT1290942	hsa-miR-4646-3p	CLIP-seq
MIRT1290943	hsa-miR-4667-3p	CLIP-seq
MIRT1290944	hsa-miR-4671-3p	CLIP-seq
MIRT1290945	hsa-miR-4683	CLIP-seq
MIRT1290946	hsa-miR-4690-3p	CLIP-seq
MIRT1290947	hsa-miR-4694-3p	CLIP-seq
MIRT1290948	hsa-miR-4695-5p	CLIP-seq
MIRT1290949	hsa-miR-4700-3p	CLIP-seq
MIRT1290950	hsa-miR-4712-3p	CLIP-seq
MIRT1290951	hsa-miR-4717-5p	CLIP-seq
MIRT1290952	hsa-miR-4722-5p	CLIP-seq
MIRT1290953	hsa-miR-5095	CLIP-seq
MIRT1290954	hsa-miR-513a-3p	CLIP-seq
MIRT1290955	hsa-miR-548l	CLIP-seq
MIRT1290956	hsa-miR-548n	CLIP-seq
MIRT1290957	hsa-miR-569	CLIP-seq
MIRT1290958	hsa-miR-587	CLIP-seq
MIRT1290959	hsa-miR-606	CLIP-seq
MIRT1290960	hsa-miR-620	CLIP-seq
MIRT1290961	hsa-miR-676	CLIP-seq
MIRT1290962	hsa-miR-7	CLIP-seq
MIRT1290963	hsa-miR-922	CLIP-seq
MIRT1290964	hsa-miR-103a	CLIP-seq
MIRT1290965	hsa-miR-107	CLIP-seq
MIRT1290966	hsa-miR-1180	CLIP-seq
MIRT1290967	hsa-miR-1245b-5p	CLIP-seq
MIRT1290968	hsa-miR-1271	CLIP-seq
MIRT1290969	hsa-miR-182	CLIP-seq
MIRT1290970	hsa-miR-185	CLIP-seq
MIRT1290971	hsa-miR-19a	CLIP-seq
MIRT1290972	hsa-miR-19b	CLIP-seq
MIRT1290973	hsa-miR-224	CLIP-seq
MIRT1290974	hsa-miR-23a	CLIP-seq
MIRT1290975	hsa-miR-23b	CLIP-seq
MIRT1290976	hsa-miR-23c	CLIP-seq
MIRT1290977	hsa-miR-2682	CLIP-seq
MIRT1290978	hsa-miR-3142	CLIP-seq
MIRT1290979	hsa-miR-3145-3p	CLIP-seq
MIRT1290925	hsa-miR-3157-5p	CLIP-seq
MIRT1290980	hsa-miR-3192	CLIP-seq
MIRT1290981	hsa-miR-3664-5p	CLIP-seq
MIRT1290982	hsa-miR-3714	CLIP-seq
MIRT1290983	hsa-miR-3935	CLIP-seq
MIRT1290984	hsa-miR-4306	CLIP-seq
MIRT1290985	hsa-miR-4463	CLIP-seq
MIRT1290986	hsa-miR-4470	CLIP-seq
MIRT1290939	hsa-miR-4477a	CLIP-seq
MIRT1290987	hsa-miR-4477b	CLIP-seq
MIRT1290988	hsa-miR-449c	CLIP-seq
MIRT1290989	hsa-miR-4644	CLIP-seq
MIRT1290990	hsa-miR-4645-5p	CLIP-seq
MIRT1290991	hsa-miR-4673	CLIP-seq
MIRT1290992	hsa-miR-4696	CLIP-seq
MIRT1290993	hsa-miR-4699-3p	CLIP-seq
MIRT1290994	hsa-miR-4704-5p	CLIP-seq
MIRT1290995	hsa-miR-4774-5p	CLIP-seq
MIRT1290996	hsa-miR-4796-3p	CLIP-seq
MIRT1290997	hsa-miR-507	CLIP-seq
MIRT1290998	hsa-miR-518a-5p	CLIP-seq
MIRT1290999	hsa-miR-520g	CLIP-seq
MIRT1291000	hsa-miR-520h	CLIP-seq
MIRT1291001	hsa-miR-527	CLIP-seq
MIRT1291002	hsa-miR-548aa	CLIP-seq
MIRT1291003	hsa-miR-557	CLIP-seq
MIRT1291004	hsa-miR-561	CLIP-seq
MIRT1291005	hsa-miR-661	CLIP-seq
MIRT1291006	hsa-miR-935	CLIP-seq
MIRT1291007	hsa-miR-96	CLIP-seq
MIRT1290939	hsa-miR-4477a	CLIP-seq
MIRT1291008	hsa-miR-4775	CLIP-seq
MIRT1291009	hsa-miR-590-3p	CLIP-seq
MIRT1290964	hsa-miR-103a	CLIP-seq
MIRT1290965	hsa-miR-107	CLIP-seq
MIRT1291010	hsa-miR-1205	CLIP-seq
MIRT1290968	hsa-miR-1271	CLIP-seq
MIRT1291011	hsa-miR-1276	CLIP-seq
MIRT1290909	hsa-miR-130a	CLIP-seq
MIRT1290910	hsa-miR-130b	CLIP-seq
MIRT1290911	hsa-miR-1324	CLIP-seq
MIRT1290912	hsa-miR-135a	CLIP-seq
MIRT1290913	hsa-miR-135b	CLIP-seq
MIRT1290915	hsa-miR-1470	CLIP-seq
MIRT1290969	hsa-miR-182	CLIP-seq
MIRT1291012	hsa-miR-1909	CLIP-seq
MIRT1291013	hsa-miR-2467-5p	CLIP-seq
MIRT1290920	hsa-miR-301a	CLIP-seq
MIRT1290921	hsa-miR-301b	CLIP-seq
MIRT1290922	hsa-miR-3119	CLIP-seq
MIRT1291014	hsa-miR-3132	CLIP-seq
MIRT1291015	hsa-miR-3148	CLIP-seq
MIRT1291016	hsa-miR-3149	CLIP-seq
MIRT1290924	hsa-miR-3153	CLIP-seq
MIRT1291017	hsa-miR-3188	CLIP-seq
MIRT1291018	hsa-miR-3607-3p	CLIP-seq
MIRT1291019	hsa-miR-3617	CLIP-seq
MIRT1291020	hsa-miR-3652	CLIP-seq
MIRT1291021	hsa-miR-3658	CLIP-seq
MIRT1290932	hsa-miR-3666	CLIP-seq
MIRT1291022	hsa-miR-3686	CLIP-seq
MIRT1291023	hsa-miR-3691-3p	CLIP-seq
MIRT1291024	hsa-miR-3921	CLIP-seq
MIRT1291025	hsa-miR-3975	CLIP-seq
MIRT1291026	hsa-miR-4263	CLIP-seq
MIRT1290936	hsa-miR-4295	CLIP-seq
MIRT1291027	hsa-miR-4311	CLIP-seq
MIRT1291028	hsa-miR-4325	CLIP-seq
MIRT1291029	hsa-miR-4422	CLIP-seq
MIRT1291030	hsa-miR-4430	CLIP-seq
MIRT1290938	hsa-miR-4469	CLIP-seq
MIRT1290986	hsa-miR-4470	CLIP-seq
MIRT1290987	hsa-miR-4477b	CLIP-seq
MIRT1290941	hsa-miR-454	CLIP-seq
MIRT1291031	hsa-miR-4639-3p	CLIP-seq
MIRT1291032	hsa-miR-4652-3p	CLIP-seq
MIRT1291033	hsa-miR-4653-5p	CLIP-seq
MIRT1290943	hsa-miR-4667-3p	CLIP-seq
MIRT1291034	hsa-miR-4668-5p	CLIP-seq
MIRT1290944	hsa-miR-4671-3p	CLIP-seq
MIRT1291035	hsa-miR-4682	CLIP-seq
MIRT1291036	hsa-miR-4714-5p	CLIP-seq
MIRT1291037	hsa-miR-4795-3p	CLIP-seq
MIRT1291038	hsa-miR-4797-5p	CLIP-seq
MIRT1291039	hsa-miR-4799-5p	CLIP-seq
MIRT1291040	hsa-miR-485-5p	CLIP-seq
MIRT1290997	hsa-miR-507	CLIP-seq
MIRT1291041	hsa-miR-511	CLIP-seq
MIRT1290955	hsa-miR-548l	CLIP-seq
MIRT1290956	hsa-miR-548n	CLIP-seq
MIRT1291003	hsa-miR-557	CLIP-seq
MIRT1291004	hsa-miR-561	CLIP-seq
MIRT1291042	hsa-miR-568	CLIP-seq
MIRT1290957	hsa-miR-569	CLIP-seq
MIRT1291043	hsa-miR-576-5p	CLIP-seq
MIRT1291044	hsa-miR-583	CLIP-seq
MIRT1291009	hsa-miR-590-3p	CLIP-seq
MIRT1290959	hsa-miR-606	CLIP-seq
MIRT1291045	hsa-miR-641	CLIP-seq
MIRT1291046	hsa-miR-660	CLIP-seq
MIRT1291047	hsa-miR-875-3p	CLIP-seq
MIRT1291007	hsa-miR-96	CLIP-seq
MIRT2086527	hsa-miR-217	CLIP-seq
MIRT1290982	hsa-miR-3714	CLIP-seq
MIRT1291041	hsa-miR-511	CLIP-seq
MIRT2086528	hsa-miR-3671	CLIP-seq
MIRT1291009	hsa-miR-590-3p	CLIP-seq
MIRT1290982	hsa-miR-3714	CLIP-seq
MIRT1290922	hsa-miR-3119	CLIP-seq
MIRT1290982	hsa-miR-3714	CLIP-seq
MIRT2432443	hsa-miR-129-5p	CLIP-seq
MIRT1290922	hsa-miR-3119	CLIP-seq
MIRT2607981	hsa-miR-10a	CLIP-seq
MIRT2607982	hsa-miR-10b	CLIP-seq
MIRT2607983	hsa-miR-1252	CLIP-seq
MIRT2607984	hsa-miR-155	CLIP-seq
MIRT2607985	hsa-miR-214	CLIP-seq
MIRT2607986	hsa-miR-221	CLIP-seq
MIRT2607987	hsa-miR-222	CLIP-seq
MIRT2607988	hsa-miR-33a	CLIP-seq
MIRT2607989	hsa-miR-33b	CLIP-seq
MIRT2607990	hsa-miR-3591-3p	CLIP-seq
MIRT2607991	hsa-miR-3619-5p	CLIP-seq
MIRT2607992	hsa-miR-3688-5p	CLIP-seq
MIRT2607993	hsa-miR-3692	CLIP-seq
MIRT2607994	hsa-miR-3907	CLIP-seq
MIRT2607995	hsa-miR-4297	CLIP-seq
MIRT1290987	hsa-miR-4477b	CLIP-seq
MIRT2607996	hsa-miR-4530	CLIP-seq
MIRT2607997	hsa-miR-4728-3p	CLIP-seq
MIRT2607998	hsa-miR-4786-5p	CLIP-seq
MIRT2607999	hsa-miR-548ag	CLIP-seq
MIRT2608000	hsa-miR-548ai	CLIP-seq
MIRT2608001	hsa-miR-548v	CLIP-seq
MIRT2608002	hsa-miR-579	CLIP-seq
MIRT2608003	hsa-miR-634	CLIP-seq
MIRT2608004	hsa-miR-657	CLIP-seq
MIRT2608005	hsa-miR-761	CLIP-seq
MIRT2608006	hsa-miR-769-5p	CLIP-seq
MIRT2608007	hsa-miR-885-3p	CLIP-seq
MIRT2607983	hsa-miR-1252	CLIP-seq
MIRT2607984	hsa-miR-155	CLIP-seq
MIRT2607986	hsa-miR-221	CLIP-seq
MIRT2607987	hsa-miR-222	CLIP-seq
MIRT1290973	hsa-miR-224	CLIP-seq
MIRT2607988	hsa-miR-33a	CLIP-seq
MIRT2607989	hsa-miR-33b	CLIP-seq
MIRT2607994	hsa-miR-3907	CLIP-seq
MIRT1290983	hsa-miR-3935	CLIP-seq
MIRT1290987	hsa-miR-4477b	CLIP-seq
MIRT2607997	hsa-miR-4728-3p	CLIP-seq
MIRT2607998	hsa-miR-4786-5p	CLIP-seq
MIRT2607999	hsa-miR-548ag	CLIP-seq
MIRT2608000	hsa-miR-548ai	CLIP-seq
MIRT2608001	hsa-miR-548v	CLIP-seq
MIRT2608006	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11524421
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12095257, 14698303, 17240990, 23434281
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA	22797597
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11524421
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	NAS	11524421
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	22797597
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030033	Process	Microvillus assembly	IEA
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030139	Component	Endocytic vesicle	IDA	22797597
GO:0030742	Function	GTP-dependent protein binding	IDA	11524421
GO:0031267	Function	Small GTPase binding	IDA	11524421
GO:0043087	Process	Regulation of GTPase activity	NAS	11524421
GO:0070300	Function	Phosphatidic acid binding	IDA	22797597
GO:0070300	Function	Phosphatidic acid binding	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090557	Process	Establishment of endothelial intestinal barrier	IMP	23885123
GO:1903698	Process	Positive regulation of microvillus assembly	IGI	22797597

Other IDs

• MIM: 610499
• HGNC: 20655
• e!Ensembl: ENSG00000158987

Protein

• UniProt ID: Q8TEU7
• Protein name: Rap guanine nucleotide exchange factor 6 (PDZ domain-containing guanine nucleotide exchange factor 2) (PDZ-GEF2) (RA-GEF-2)
• Protein function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.
• PDB: 2D93, 3LNY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00027	cNMP_binding	300 → 382	Cyclic nucleotide-binding domain	Domain
  PF00618	RasGEF_N	415 → 502	RasGEF N-terminal motif	Domain
  PF00595	PDZ	530 → 609	PDZ domain	Domain
  PF00788	RA	749 → 835	Ras association (RalGDS/AF-6) domain	Domain
  PF00617	RasGEF	863 → 1041	RasGEF domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 3 has highest expression levels in the brain, heart, liver, lung and placenta and is barely detectable in skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11524421}.
• Sequence:

  MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSG
  NQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVEN
  AKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPH
  PQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEI
  DRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEV
  VEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVR
  TKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKAT
  PERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLL
  WVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRES
  PLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRN
  NTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKG
  SKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMP
  IPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHA
  VHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNMETETLC
  SDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHL
  KRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLA
  SVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDM
  TFLHEGNDSKVDGLVNFEKLRMISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLD
  VQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGT
  LTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKD
  PALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHKGYTLIPSAKSDN
  LSDSSHSEISSRSSIVSNCSVDSMSAALQDERCSSQALAVPESTGALEKTEHASGIGDHS
  QHGPGWTLLKPSLIKCLAVSSSVSNEEISQEHIIIEAADSGRGSWTSCSSSSHDNFQSLP
  NPKSWDFLNSYRHTHLDDPIAEVEPTDSEPYSCSKSCSRTCGQCKGSLERKSWTSSSSLS
  DTYEPNYGTVKQRVLESTPAESSEGLDPKDATDPVYKTVTSSTEKGLIVYCVTSPKKDDR
  YREPPPTPPGYLGISLADLKEGPHTHLKPPDYSVAVQRSKMMHNSLSRLPPASLSSNLVA
  CVPSKIVTQPQRHNLQPFHPKLGDVTDADSEADENEQVSAV

• Sequence length: 1601

Pathways

KEGG:

Rap1 signaling pathway
Tight junction

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	25778476		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	21429211		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21429211		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17030554, 18718982, 28917843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17030554, 18718982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17030554, 18718982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations