CleftGeneDB-Search

Gene: EFNA5

Basic information

Tag	Content
Uniprot ID	P52803
Entrez ID	1946
Genbank protein ID	AAH75054.1; AAB60377.1; AAH75055.1;
Genbank nucleotide ID	NM_001962.2
Ensembl protein ID	ENSP00000328777
Ensembl nucleotide ID	ENSG00000184349
Gene name	Ephrin-A5
Gene symbol	EFNA5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion.
Sequence	MLHVEMLTLV FLVLWMCVFS QDPGSKAVAD RYAVYWNSSN PRFQRGDYHI DVCINDYLDV 60 FCPHYEDSVP EDKTERYVLY MVNFDGYSAC DHTSKGFKRW ECNRPHSPNG PLKFSEKFQL 120 FTPFSLGFEF RPGREYFYIS SAIPDNGRRS CLKLKVFVRP TNSCMKTIGV HDRVFDVNDK 180 VENSLEPADD TVHESAEPSR GENAAQTPRI PSRLLAILLF LLAMLLTL 228

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2X11
3MX0
4BK5
4BKA
4L0P
4M4R
4L0P

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	EFNA5		A0A452EE67			Capra hircus	Prediction	More>>
1:1 ortholog	EFNA5	1946	P52803			Homo sapiens	Prediction	More>>
1:1 ortholog	Efna5	13640	O08543	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	EFNA5	471594	A0A2I3SW52			Pan troglodytes	Prediction	More>>
1:1 ortholog	EFNA5		A0A287AHP3			Sus scrofa	Prediction	More>>
1:1 ortholog	Efna5		G3V989			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs771131134	p.Leu2Ser	missense variant	-	NC_000005.10:g.107670609A>G	ExAC,TOPMed,gnomAD
rs771131134	p.Leu2Trp	missense variant	-	NC_000005.10:g.107670609A>C	ExAC,TOPMed,gnomAD
rs531625106	p.His3Pro	missense variant	-	NC_000005.10:g.107670606T>G	1000Genomes,ExAC,gnomAD
rs531625106	p.His3Arg	missense variant	-	NC_000005.10:g.107670606T>C	1000Genomes,ExAC,gnomAD
rs1316921021	p.Val4Glu	missense variant	-	NC_000005.10:g.107670603A>T	gnomAD
COSM3428807	p.Glu5Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107670599C>A	NCI-TCGA Cosmic
rs1384699365	p.Leu12Pro	missense variant	-	NC_000005.10:g.107670579A>G	TOPMed
rs1298672817	p.Val13Leu	missense variant	-	NC_000005.10:g.107670577C>G	gnomAD
rs1298672817	p.Val13Leu	missense variant	-	NC_000005.10:g.107670577C>A	gnomAD
rs375348285	p.Leu14His	missense variant	-	NC_000005.10:g.107670573A>T	ESP,ExAC,TOPMed,gnomAD
rs754892007	p.Leu14Phe	missense variant	-	NC_000005.10:g.107670574G>A	ExAC,TOPMed,gnomAD
rs375348285	p.Leu14Pro	missense variant	-	NC_000005.10:g.107670573A>G	ESP,ExAC,TOPMed,gnomAD
rs750133350	p.Trp15Cys	missense variant	-	NC_000005.10:g.107670569C>G	ExAC,gnomAD
rs755615518	p.Trp15Arg	missense variant	-	NC_000005.10:g.107670571A>T	ExAC,TOPMed,gnomAD
rs755615518	p.Trp15Arg	missense variant	-	NC_000005.10:g.107670571A>G	ExAC,TOPMed,gnomAD
rs1386658762	p.Met16Lys	missense variant	-	NC_000005.10:g.107670567A>T	gnomAD
rs1165880531	p.Cys17Arg	missense variant	-	NC_000005.10:g.107670565A>G	gnomAD
rs202114413	p.Val18Gly	missense variant	-	NC_000005.10:g.107670561A>C	1000Genomes,ExAC,gnomAD
rs898892115	p.Ser20Gly	missense variant	-	NC_000005.10:g.107670556T>C	TOPMed,gnomAD
rs1221778708	p.Pro23Leu	missense variant	-	NC_000005.10:g.107670546G>A	gnomAD
rs756893997	p.Pro23Ser	missense variant	-	NC_000005.10:g.107670547G>A	ExAC,TOPMed,gnomAD
rs1294136606	p.Ser25Cys	missense variant	-	NC_000005.10:g.107670540G>C	gnomAD
rs1237772343	p.Lys26Met	missense variant	-	NC_000005.10:g.107670537T>A	TOPMed,gnomAD
rs1237772343	p.Lys26Arg	missense variant	-	NC_000005.10:g.107670537T>C	TOPMed,gnomAD
rs751892462	p.Lys26Asn	missense variant	-	NC_000005.10:g.107670536C>A	ExAC,gnomAD
rs1225360851	p.Val28Leu	missense variant	-	NC_000005.10:g.107670532C>G	gnomAD
rs370590979	p.Asp30Tyr	missense variant	-	NC_000005.10:g.107670526C>A	ESP,ExAC,TOPMed,gnomAD
rs370590979	p.Asp30Asn	missense variant	-	NC_000005.10:g.107670526C>T	ESP,ExAC,TOPMed,gnomAD
rs1369687459	p.Ala33Ser	missense variant	-	NC_000005.10:g.107670517C>A	TOPMed
COSM1059355	p.Asn37Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107670504T>C	NCI-TCGA Cosmic
rs1418319152	p.Asn40Tyr	missense variant	-	NC_000005.10:g.107670496T>A	gnomAD
rs1160522580	p.Arg42Lys	missense variant	-	NC_000005.10:g.107670489C>T	gnomAD
NCI-TCGA novel	p.Phe43Ile	missense variant	-	NC_000005.10:g.107427508A>T	NCI-TCGA
rs1419224113	p.Gln44Lys	missense variant	-	NC_000005.10:g.107427505G>T	gnomAD
rs534814016	p.Gly46Val	missense variant	-	NC_000005.10:g.107427498C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs534814016	p.Gly46Asp	missense variant	-	NC_000005.10:g.107427498C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778068750	p.His49Arg	missense variant	-	NC_000005.10:g.107427489T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His49Tyr	missense variant	-	NC_000005.10:g.107427490G>A	NCI-TCGA
NCI-TCGA novel	p.Asp51Asn	missense variant	-	NC_000005.10:g.107427484C>T	NCI-TCGA
NCI-TCGA novel	p.Cys53ProPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.107427478_107427479insTTAGCTGG	NCI-TCGA
rs758824988	p.Asn55Ser	missense variant	-	NC_000005.10:g.107427471T>C	ExAC,gnomAD
rs1262499843	p.Asp59Val	missense variant	-	NC_000005.10:g.107427459T>A	gnomAD
rs765848016	p.Val60Ile	missense variant	-	NC_000005.10:g.107427457C>T	ExAC,TOPMed,gnomAD
rs201968475	p.His64Tyr	missense variant	-	NC_000005.10:g.107427445G>A	1000Genomes,ExAC,gnomAD
rs753881471	p.Tyr65His	missense variant	-	NC_000005.10:g.107427442A>G	ExAC,gnomAD
rs766457284	p.Ser68Cys	missense variant	-	NC_000005.10:g.107427432G>C	ExAC,TOPMed,gnomAD
rs766457284	p.Ser68Phe	missense variant	-	NC_000005.10:g.107427432G>A	ExAC,TOPMed,gnomAD
rs773478586	p.Val69Ile	missense variant	-	NC_000005.10:g.107427430C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu71Ter	stop gained	-	NC_000005.10:g.107427424C>A	NCI-TCGA
rs768391866	p.Asp72Val	missense variant	-	NC_000005.10:g.107427420T>A	ExAC,gnomAD
rs762750294	p.Lys73Glu	missense variant	-	NC_000005.10:g.107427418T>C	ExAC,gnomAD
rs775199182	p.Thr74Ala	missense variant	-	NC_000005.10:g.107427415T>C	ExAC,gnomAD
rs1408872308	p.Arg76His	missense variant	-	NC_000005.10:g.107427408C>T	TOPMed,gnomAD
rs550879331	p.Arg76Cys	missense variant	-	NC_000005.10:g.107427409G>A	ExAC,gnomAD
rs1211054021	p.Val78Ile	missense variant	-	NC_000005.10:g.107427403C>T	gnomAD
NCI-TCGA novel	p.Tyr80Cys	missense variant	-	NC_000005.10:g.107427396T>C	NCI-TCGA
rs1461491891	p.Met81Val	missense variant	-	NC_000005.10:g.107427394T>C	gnomAD
COSM4127007	p.Val82Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427391C>T	NCI-TCGA Cosmic
rs1373923050	p.Asp85Gly	missense variant	-	NC_000005.10:g.107427381T>C	gnomAD
rs780608946	p.Asp91Asn	missense variant	-	NC_000005.10:g.107427364C>T	ExAC,gnomAD
rs1313861624	p.Thr93Ile	missense variant	-	NC_000005.10:g.107427357G>A	TOPMed
COSM3409658	p.Thr93Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427357G>C	NCI-TCGA Cosmic
rs371145939	p.Lys95Arg	missense variant	-	NC_000005.10:g.107427351T>C	ESP,ExAC,TOPMed,gnomAD
COSM4127006	p.Gly96Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427349C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp100Cys	missense variant	-	NC_000005.10:g.107427335C>A	NCI-TCGA
NCI-TCGA novel	p.Trp100Leu	missense variant	-	NC_000005.10:g.107427336C>A	NCI-TCGA
rs377722066	p.Arg104Gly	missense variant	-	NC_000005.10:g.107427325G>C	ESP,ExAC,TOPMed,gnomAD
rs377722066	p.Arg104Trp	missense variant	-	NC_000005.10:g.107427325G>A	ESP,ExAC,TOPMed,gnomAD
rs1035548678	p.Arg104Gln	missense variant	-	NC_000005.10:g.107427324C>T	gnomAD
rs373469834	p.His106Arg	missense variant	-	NC_000005.10:g.107427318T>C	ESP,ExAC,gnomAD
COSM4127005	p.Ser107Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427315G>A	NCI-TCGA Cosmic
rs1385630940	p.Pro108Leu	missense variant	-	NC_000005.10:g.107427312G>A	gnomAD
rs199676207	p.Asn109Ser	missense variant	-	NC_000005.10:g.107427309T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly110Arg	missense variant	-	NC_000005.10:g.107427307C>T	NCI-TCGA
NCI-TCGA novel	p.Leu120Ile	missense variant	-	NC_000005.10:g.107427277G>T	NCI-TCGA
rs760794041	p.Pro123Ala	missense variant	-	NC_000005.10:g.107427268G>C	ExAC,gnomAD
COSM3607463	p.Pro123Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427268G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser125Phe	missense variant	-	NC_000005.10:g.107427261G>A	NCI-TCGA
rs142282920	p.Arg134Gly	missense variant	-	NC_000005.10:g.107427235G>C	ESP,TOPMed
rs775314064	p.Arg134Gln	missense variant	-	NC_000005.10:g.107427234C>T	ExAC,TOPMed,gnomAD
COSM2150914	p.Arg134Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.107427235G>A	NCI-TCGA Cosmic
rs1263853816	p.Ser141Phe	missense variant	-	NC_000005.10:g.107387768G>A	gnomAD
rs1395025924	p.Ile143Thr	missense variant	-	NC_000005.10:g.107387762A>G	TOPMed
rs771409651	p.Pro144Leu	missense variant	-	NC_000005.10:g.107387759G>A	gnomAD
rs1008739951	p.Asp145Gly	missense variant	-	NC_000005.10:g.107387756T>C	TOPMed
rs746331255	p.Asn146Asp	missense variant	-	NC_000005.10:g.107387754T>C	ExAC,gnomAD
rs1334662919	p.Arg148Gly	missense variant	-	NC_000005.10:g.107387748T>C	gnomAD
rs757317885	p.Arg149Lys	missense variant	-	NC_000005.10:g.107387744C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg149Met	missense variant	-	NC_000005.10:g.107387744C>A	NCI-TCGA
NCI-TCGA novel	p.Cys151Arg	missense variant	-	NC_000005.10:g.107387739A>G	NCI-TCGA
rs764308705	p.Lys155Arg	missense variant	-	NC_000005.10:g.107387726T>C	ExAC,TOPMed,gnomAD
rs1407649567	p.Val156Ile	missense variant	-	NC_000005.10:g.107387724C>T	gnomAD
rs369853743	p.Pro160Leu	missense variant	-	NC_000005.10:g.107387711G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro160GlnPheSerTerUnk	frameshift	-	NC_000005.10:g.107387711G>-	NCI-TCGA
rs1242445455	p.Thr161Ser	missense variant	-	NC_000005.10:g.107387709T>A	TOPMed
rs554807948	p.Asn162Thr	missense variant	-	NC_000005.10:g.107387315T>G	1000Genomes
rs1250324748	p.Asn162His	missense variant	-	NC_000005.10:g.107387706T>G	TOPMed,gnomAD
rs1250324748	p.Asn162Asp	missense variant	-	NC_000005.10:g.107387706T>C	TOPMed,gnomAD
rs925330825	p.Ser163Asn	missense variant	-	NC_000005.10:g.107387312C>T	TOPMed
rs1205251892	p.Cys164Tyr	missense variant	-	NC_000005.10:g.107387309C>T	TOPMed,gnomAD
rs1205251892	p.Cys164Ser	missense variant	-	NC_000005.10:g.107387309C>G	TOPMed,gnomAD
rs1289779671	p.Ile168Val	missense variant	-	NC_000005.10:g.107387298T>C	TOPMed,gnomAD
rs1289779671	p.Ile168Leu	missense variant	-	NC_000005.10:g.107387298T>A	TOPMed,gnomAD
COSM3776097	p.Asp172Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107387286C>A	NCI-TCGA Cosmic
rs1359871751	p.Arg173Cys	missense variant	-	NC_000005.10:g.107387283G>A	gnomAD
rs755846070	p.Arg173His	missense variant	-	NC_000005.10:g.107387282C>T	ExAC,TOPMed,gnomAD
rs945394967	p.Asp176Asn	missense variant	-	NC_000005.10:g.107387274C>T	TOPMed,gnomAD
rs767566280	p.Asn178Asp	missense variant	-	NC_000005.10:g.107387268T>C	ExAC,gnomAD
COSM3826518	p.Asn178Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107387267T>C	NCI-TCGA Cosmic
rs191210570	p.Asp179Asn	missense variant	-	NC_000005.10:g.107387265C>T	1000Genomes,ExAC,gnomAD
rs1302129174	p.Val181Leu	missense variant	-	NC_000005.10:g.107387259C>G	gnomAD
rs1366552663	p.Glu182Ala	missense variant	-	NC_000005.10:g.107387255T>G	gnomAD
NCI-TCGA novel	p.Glu186Val	missense variant	-	NC_000005.10:g.107387243T>A	NCI-TCGA
NCI-TCGA novel	p.Glu186Gln	missense variant	-	NC_000005.10:g.107387244C>G	NCI-TCGA
NCI-TCGA novel	p.Ala188Val	missense variant	-	NC_000005.10:g.107387237G>A	NCI-TCGA
rs1292992308	p.Asp190Asn	missense variant	-	NC_000005.10:g.107381374C>T	gnomAD
rs913570798	p.Thr191Asn	missense variant	-	NC_000005.10:g.107381370G>T	TOPMed,gnomAD
rs199566187	p.Val192Ile	missense variant	-	NC_000005.10:g.107381368C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1437929277	p.His193Pro	missense variant	-	NC_000005.10:g.107381364T>G	TOPMed,gnomAD
rs1171980334	p.His193Gln	missense variant	-	NC_000005.10:g.107381363A>C	TOPMed
rs989378071	p.Glu194Gly	missense variant	-	NC_000005.10:g.107381361T>C	TOPMed
rs761234031	p.Ala196Val	missense variant	-	NC_000005.10:g.107381355G>A	ExAC,TOPMed
rs772569777	p.Glu197Lys	missense variant	-	NC_000005.10:g.107381353C>T	ExAC,TOPMed,gnomAD
rs748179054	p.Pro198Thr	missense variant	-	NC_000005.10:g.107381350G>T	ExAC,gnomAD
rs150981361	p.Arg200His	missense variant	-	NC_000005.10:g.107381343C>T	ESP,ExAC,TOPMed,gnomAD
rs774448128	p.Arg200Cys	missense variant	-	NC_000005.10:g.107381344G>A	ExAC,gnomAD
rs148423632	p.Gly201Ser	missense variant	-	NC_000005.10:g.107381341C>T	ESP,ExAC,TOPMed,gnomAD
rs746761754	p.Glu202Lys	missense variant	-	NC_000005.10:g.107381338C>T	ExAC,TOPMed,gnomAD
rs758317600	p.Ala204Thr	missense variant	-	NC_000005.10:g.107381332C>T	ExAC,TOPMed,gnomAD
rs758317600	p.Ala204Ser	missense variant	-	NC_000005.10:g.107381332C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala204Gly	missense variant	-	NC_000005.10:g.107381331G>C	NCI-TCGA
NCI-TCGA novel	p.Gln206His	missense variant	-	NC_000005.10:g.107381324T>A	NCI-TCGA
rs1307667399	p.Pro208Leu	missense variant	-	NC_000005.10:g.107381319G>A	gnomAD
rs200334393	p.Pro208Ala	missense variant	-	NC_000005.10:g.107381320G>C	1000Genomes,ExAC,gnomAD
COSM3918430	p.Pro208Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107381320G>A	NCI-TCGA Cosmic
rs1230985810	p.Ile210Thr	missense variant	-	NC_000005.10:g.107381313A>G	gnomAD
rs994027099	p.Pro211Ser	missense variant	-	NC_000005.10:g.107381311G>A	TOPMed,gnomAD
rs994027099	p.Pro211Ala	missense variant	-	NC_000005.10:g.107381311G>C	TOPMed,gnomAD
rs1004258412	p.Pro211His	missense variant	-	NC_000005.10:g.107381310G>T	TOPMed,gnomAD
rs994027099	p.Pro211Thr	missense variant	-	NC_000005.10:g.107381311G>T	TOPMed,gnomAD
rs1396722950	p.Ser212Arg	missense variant	-	NC_000005.10:g.107381306G>T	TOPMed,gnomAD
rs754669041	p.Arg213Cys	missense variant	-	NC_000005.10:g.107381305G>A	ExAC,gnomAD
rs753480388	p.Arg213His	missense variant	-	NC_000005.10:g.107381304C>T	ExAC,TOPMed,gnomAD
rs753480388	p.Arg213Pro	missense variant	-	NC_000005.10:g.107381304C>G	ExAC,TOPMed,gnomAD
rs754669041	p.Arg213Ser	missense variant	-	NC_000005.10:g.107381305G>T	ExAC,gnomAD
COSM1432035	p.Leu215Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107381298A>G	NCI-TCGA Cosmic
rs1371404497	p.Ile217Val	missense variant	-	NC_000005.10:g.107381293T>C	TOPMed
NCI-TCGA novel	p.Leu218Ile	missense variant	-	NC_000005.10:g.107381290G>T	NCI-TCGA
rs1170260907	p.Leu221Ile	missense variant	-	NC_000005.10:g.107381281G>T	gnomAD
rs201008479	p.Ala223Val	missense variant	-	NC_000005.10:g.107381274G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu226Ter	frameshift	-	NC_000005.10:g.107381265A>-	NCI-TCGA
NCI-TCGA novel	p.Leu226Phe	missense variant	-	NC_000005.10:g.107381264C>G	NCI-TCGA
rs767938203	p.Thr227Ile	missense variant	-	NC_000005.10:g.107381262G>A	ExAC,gnomAD
rs1194678457	p.Leu228Ter	stop gained	-	NC_000005.10:g.107381259A>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002902	Anencephaly	disease	MGD
C0003838	Arterial Occlusive Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0010674	Cystic Fibrosis	disease	BEFREE
C0013238	Dry Eye Syndromes	group	BEFREE
C0020597	Hypobetalipoproteinemias	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0035126	Reperfusion Injury	disease	CTD_human
C0036341	Schizophrenia	disease	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE
C0149654	Conduct Disorder	disease	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0314719	Dryness of eye	phenotype	BEFREE
C0544852	Hypertrichosis, universal	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C1840362	HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)	disease	BEFREE
C1862596	Familial hypobetalipoproteinemia	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	LHGDN
C2239176	Liver carcinoma	disease	BEFREE
C4315130	Hippocampal atrophy	phenotype	GWASCAT;GWASDB

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005168	neurotrophin TRKA receptor binding	NAS
GO:0005169	neurotrophin TRKB receptor binding	NAS
GO:0005170	neurotrophin TRKC receptor binding	NAS
GO:0005515	protein binding	IPI
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS
GO:0045499	chemorepellent activity	IEA
GO:0046875	ephrin receptor binding	IPI
GO:0046875	ephrin receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001934	positive regulation of protein phosphorylation	NAS
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA
GO:0007399	nervous system development	TAS
GO:0007411	axon guidance	IBA
GO:0022407	regulation of cell-cell adhesion	IDA
GO:0022407	regulation of cell-cell adhesion	IBA
GO:0022604	regulation of cell morphogenesis	IDA
GO:0031290	retinal ganglion cell axon guidance	IEA
GO:0032956	regulation of actin cytoskeleton organization	IDA
GO:0032956	regulation of actin cytoskeleton organization	IBA
GO:0043087	regulation of GTPase activity	ISS
GO:0043087	regulation of GTPase activity	IDA
GO:0048013	ephrin receptor signaling pathway	IDA
GO:0048013	ephrin receptor signaling pathway	IBA
GO:0048013	ephrin receptor signaling pathway	TAS
GO:0048668	collateral sprouting	IEA
GO:0048672	positive regulation of collateral sprouting	IEA
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS
GO:0050919	negative chemotaxis	IEA
GO:0051893	regulation of focal adhesion assembly	IDA
GO:0051965	positive regulation of synapse assembly	IEA
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0070507	regulation of microtubule cytoskeleton organization	IDA
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA
GO:0099560	synaptic membrane adhesion	IEA
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	IDA
GO:1904322	cellular response to forskolin	IEA
GO:0006915	apoptotic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005604	basement membrane	IEA
GO:0005886	plasma membrane	ISS
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005901	caveola	IEA
GO:0005912	adherens junction	IEA
GO:0031362	anchored component of external side of plasma membrane	IDA
GO:0098982	GABA-ergic synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-2682334	EPH-Ephrin signaling	TAS
R-HSA-2682334	EPH-Ephrin signaling	IEA
R-HSA-3928663	EPHA-mediated growth cone collapse	TAS
R-HSA-3928663	EPHA-mediated growth cone collapse	IEA
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	TAS
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	IEA
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of EFNA5 mRNA	29038090
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of EFNA5 mRNA	30723492
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of EFNA5 mRNA	20382639
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of EFNA5 mRNA	20018196
D000082	Acetaminophen	Acetaminophen affects the expression of EFNA5 mRNA	17562736
D020106	Acrylamide	Acrylamide affects the expression of EFNA5 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of EFNA5 gene	27153756
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of EFNA5 mRNA	21298039
D001151	Arsenic	Arsenic affects the methylation of EFNA5 gene	25304211
D001280	Atrazine	Atrazine results in decreased expression of EFNA5 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of EFNA5 mRNA	29505797
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of EFNA5 mRNA	27685785
C006780	bisphenol A	bisphenol A results in increased expression of EFNA5 mRNA	27685785
C006780	bisphenol A	bisphenol A results in decreased expression of EFNA5 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of EFNA5 gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of EFNA5 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of EFNA5 mRNA	12160620
D002117	Calcitriol	Calcitriol results in increased expression of EFNA5 mRNA	26485663
D002220	Carbamazepine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNA5 mRNA	22701549
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of EFNA5 mRNA	12734012
C084597	chlorcyclizine	chlorcyclizine results in increased expression of EFNA5 mRNA	21058326
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of EFNA5 gene	20938992
D003042	Cocaine	Cocaine results in increased expression of EFNA5 mRNA	15691709
D003471	Cuprizone	Cuprizone results in increased expression of EFNA5 mRNA	26577399
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of EFNA5 mRNA	23914054
D000077209	Decitabine	Decitabine results in decreased methylation of EFNA5 gene	27923600
D004041	Dietary Fats	Dietary Fats results in increased expression of EFNA5 mRNA	19030233
D004041	Dietary Fats	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of EFNA5 mRNA]	19030233
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of EFNA5 mRNA	31163220
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of EFNA5 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of EFNA5 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of EFNA5 mRNA	22079256
D004958	Estradiol	Estradiol results in decreased expression of EFNA5 mRNA	21185374
D000431	Ethanol	Ethanol affects the splicing of EFNA5 mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of EFNA5 mRNA	28973697
D005473	Fluoxetine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNA5 mRNA	22701549
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of EFNA5 gene	20938992
D005665	Furosemide	Furosemide results in increased expression of EFNA5 mRNA	16526316
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of EFNA5 mRNA	21396975
C561695	(+)-JQ1 compound	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of EFNA5 mRNA	25119042
D048628	Ketolides	Ketolides analog results in decreased expression of EFNA5 mRNA	24967691
D008558	Melphalan	Melphalan results in decreased expression of EFNA5 mRNA	22363485
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of EFNA5 gene	20938992
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of EFNA5 mRNA	20713471
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of EFNA5 mRNA	27188386
C000627226	momfluorothrin	momfluorothrin results in decreased expression of EFNA5 mRNA	28520973
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of EFNA5 mRNA	25554681
C029938	nickel sulfate	nickel sulfate results in decreased expression of EFNA5 mRNA	22714537
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of EFNA5 mRNA	26272509
C506614	PD 0325901	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of EFNA5 mRNA	25119042
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of EFNA5 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of EFNA5 mRNA	18301758; 23811191;
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of EFNA5 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of EFNA5 mRNA	22079256
D011374	Progesterone	Progesterone results in decreased expression of EFNA5 mRNA	23012394
D000074262	Rapeseed Oil	Rapeseed Oil metabolite results in decreased expression of EFNA5 mRNA	27363782
D000077285	Rimonabant	Rimonabant inhibits the reaction [Dietary Fats results in increased expression of EFNA5 mRNA]	19030233
D012834	Silver	Silver results in decreased expression of EFNA5 mRNA	27131904
D000077210	Sunitinib	Sunitinib results in decreased expression of EFNA5 mRNA	31533062
D013853	Thioacetamide	Thioacetamide results in decreased expression of EFNA5 mRNA	23411599
D014212	Tretinoin	Tretinoin results in decreased expression of EFNA5 mRNA	21934132
C011559	tributyltin	tributyltin results in increased expression of EFNA5 mRNA	29505797
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of EFNA5 mRNA	22723015; 24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in decreased expression of EFNA5 mRNA	28973697
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EFNA5 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of EFNA5 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of EFNA5 mRNA	17963808
D014635	Valproic Acid	Valproic Acid results in decreased expression of EFNA5 mRNA	29427782
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of EFNA5 gene	25560391
D000069470	Venlafaxine Hydrochloride	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in increased expression of EFNA5 mRNA	22701549
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of EFNA5 mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-0221	Differentiation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0336	GPI-anchor
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0524	Neurogenesis
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR008972	Cupredoxin
IPR031328	Ephrin
IPR034252	Ephrin-A_Ecto
IPR019765	Ephrin_CS
IPR001799	Ephrin_RBD

PROSITE

PROSITE ID	PROSITE Term
PS01299	EPHRIN_RBD_1
PS51551	EPHRIN_RBD_2

Pfam

Pfam ID	Pfam Term
PF00812	Ephrin

Gene: EFNA5

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction