CleftGeneDB-Search

Gene: EFNB2

Basic information

Tag	Content
Uniprot ID	P52799; Q5JV56;
Entrez ID	1948
Genbank protein ID	AAH69342.1; AAI05958.1; AAA99707.1; AAD03786.1; AAC41752.1; AAH74857.1; AAH74856.1; AAI05956.1; AAI05957.1;
Genbank nucleotide ID	NM_004093.3
Ensembl protein ID	ENSP00000493716
Ensembl nucleotide ID	ENSG00000125266
Gene name	Ephrin-B2
Gene symbol	EFNB2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cell surface transmembrane 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. Binds to receptor tyrosine kinase including EPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. May play a role in constraining the orientation of longitudinally projecting axons.
Sequence	MAVRRDSVWK YCWGVLMVLC RTAISKSIVL EPIYWNSSNS KFLPGQGLVL YPQIGDKLDI 60 ICPKVDSKTV GQYEYYKVYM VDKDQADRCT IKKENTPLLN CAKPDQDIKF TIKFQEFSPN 120 LWGLEFQKNK DYYIISTSNG SLEGLDNQEG GVCQTRAMKI LMKVGQDASS AGSTRNKDPT 180 RRPELEAGTN GRSSTTSPFV KPNPGSSTDG NSAGHSGNNI LGSEVALFAG IASGCIIFIV 240 IIITLVVLLL KYRRRHRKHS PQHTTTLSLS TLATPKRSGN NNGSEPSDII IPLRTADSVF 300 CPHYEKVSGD YGHPVYIVQE MPPQSPANIY YKV 333

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
2HLE
2I85
2VSK
2VSM
2WO2
3GXU
4UF7
6P7Y
6PDL
2I85
2VSK
2VSM

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	EFNB2		A0A5F4CFF7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EFNB2		A0A452FDT3		Capra hircus	Prediction	More>>
1:1 ortholog	EFNB2	100064730	B0LDS7		Equus caballus	Prediction	More>>
1:1 ortholog	EFNB2	1948	P52799		Homo sapiens	Prediction	More>>
1:1 ortholog	Efnb2	13642	P52800	CPO	Mus musculus	Publication	More>>
1:1 ortholog	EFNB2	735430	H2Q7S4		Pan troglodytes	Prediction	More>>
1:1 ortholog	EFNB2		G1TLS5		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Efnb2	306636	B2B9A9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	efnb2a	30219	O73874		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs775586386	p.Ala2Thr	missense variant	-	NC_000013.11:g.106534961C>T	ExAC,gnomAD
rs1164055421	p.Val3Met	missense variant	-	NC_000013.11:g.106534958C>T	gnomAD
rs376463336	p.Arg5Gly	missense variant	-	NC_000013.11:g.106534952T>C	ESP,ExAC,TOPMed,gnomAD
rs1292931544	p.Asp6His	missense variant	-	NC_000013.11:g.106534949C>G	TOPMed,gnomAD
rs1436549077	p.Asp6Gly	missense variant	-	NC_000013.11:g.106534948T>C	gnomAD
rs1292931544	p.Asp6Asn	missense variant	-	NC_000013.11:g.106534949C>T	TOPMed,gnomAD
rs1390418389	p.Cys12Tyr	missense variant	-	NC_000013.11:g.106534930C>T	gnomAD
rs1170803905	p.Gly14Ser	missense variant	-	NC_000013.11:g.106534925C>T	TOPMed,gnomAD
rs770705334	p.Val15Phe	missense variant	-	NC_000013.11:g.106534922C>A	ExAC
rs1235515076	p.Met17Leu	missense variant	-	NC_000013.11:g.106534916T>A	TOPMed
rs773088976	p.Arg21Ser	missense variant	-	NC_000013.11:g.106534902T>A	ExAC,gnomAD
rs1231204543	p.Thr22Ser	missense variant	-	NC_000013.11:g.106534900G>C	gnomAD
rs1489487155	p.Thr22Ala	missense variant	-	NC_000013.11:g.106534901T>C	gnomAD
rs200744113	p.Ala23Glu	missense variant	-	NC_000013.11:g.106534897G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1345531848	p.Ser27Ala	missense variant	-	NC_000013.11:g.106534886A>C	gnomAD
rs1427939091	p.Val29Ile	missense variant	-	NC_000013.11:g.106534880C>T	TOPMed
rs868855139	p.Val29Ala	missense variant	-	NC_000013.11:g.106534879A>G	TOPMed
rs1300468991	p.Leu30Ser	missense variant	-	NC_000013.11:g.106534876A>G	gnomAD
rs746448012	p.Glu31Asp	missense variant	-	NC_000013.11:g.106534872C>A	ExAC,gnomAD
rs1357762883	p.Pro32Ser	missense variant	-	NC_000013.11:g.106534871G>A	TOPMed
rs1295888661	p.Ile33Val	missense variant	-	NC_000013.11:g.106534868T>C	gnomAD
rs757666661	p.Tyr34His	missense variant	-	NC_000013.11:g.106534865A>G	ExAC,TOPMed,gnomAD
rs1370782117	p.Trp35Cys	missense variant	-	NC_000013.11:g.106534860C>A	gnomAD
rs754224608	p.Ser37Thr	missense variant	-	NC_000013.11:g.106534856A>T	ExAC,gnomAD
rs1244472164	p.Ser38Leu	missense variant	-	NC_000013.11:g.106534852G>A	gnomAD
rs182884414	p.Leu43Val	missense variant	-	NC_000013.11:g.106512808G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778168173	p.Gln46Arg	missense variant	-	NC_000013.11:g.106512798T>C	ExAC,TOPMed,gnomAD
rs755103788	p.Val49Leu	missense variant	-	NC_000013.11:g.106512790C>A	ExAC,TOPMed,gnomAD
rs755103788	p.Val49Ile	missense variant	-	NC_000013.11:g.106512790C>T	ExAC,TOPMed,gnomAD
rs766335326	p.Pro63Leu	missense variant	-	NC_000013.11:g.106512747G>A	ExAC,gnomAD
rs373751268	p.Val70Ile	missense variant	-	NC_000013.11:g.106512727C>T	ESP,ExAC,TOPMed,gnomAD
rs373751268	p.Val70Leu	missense variant	-	NC_000013.11:g.106512727C>G	ESP,ExAC,TOPMed,gnomAD
rs1391487901	p.Gln72Arg	missense variant	-	NC_000013.11:g.106512720T>C	gnomAD
rs1369257861	p.Asp84Asn	missense variant	-	NC_000013.11:g.106512685C>T	gnomAD
rs776251962	p.Asp84Glu	missense variant	-	NC_000013.11:g.106512683G>C	ExAC,gnomAD
rs199874504	p.Arg88Ile	missense variant	-	NC_000013.11:g.106512672C>A	gnomAD
rs768377153	p.Thr90Ala	missense variant	-	NC_000013.11:g.106512667T>C	ExAC,TOPMed,gnomAD
rs201937680	p.Thr90Ser	missense variant	-	NC_000013.11:g.106512666G>C	gnomAD
rs148660831	p.Ile91Val	missense variant	-	NC_000013.11:g.106512664T>C	ESP,ExAC,TOPMed,gnomAD
rs1322194550	p.Pro97His	missense variant	-	NC_000013.11:g.106512645G>T	TOPMed
rs369578553	p.Cys101Tyr	missense variant	-	NC_000013.11:g.106512633C>T	ESP,TOPMed
rs1488781592	p.Pro104Arg	missense variant	-	NC_000013.11:g.106512624G>C	gnomAD
rs1207542729	p.Asp107Val	missense variant	-	NC_000013.11:g.106512615T>A	gnomAD
rs1355102999	p.Ile108Thr	missense variant	-	NC_000013.11:g.106512612A>G	gnomAD
rs1277123666	p.Phe110Leu	missense variant	-	NC_000013.11:g.106512605G>C	TOPMed
rs1305432874	p.Leu121Ile	missense variant	-	NC_000013.11:g.106512574G>T	gnomAD
rs543289075	p.Lys130Asn	missense variant	-	NC_000013.11:g.106512545T>G	gnomAD
rs778256043	p.Asp131Asn	missense variant	-	NC_000013.11:g.106512544C>T	ExAC,gnomAD
rs1288872501	p.Ile134Val	missense variant	-	NC_000013.11:g.106512535T>C	TOPMed,gnomAD
rs748532324	p.Ile135Thr	missense variant	-	NC_000013.11:g.106512531A>G	ExAC,gnomAD
rs753716311	p.Asn139Ser	missense variant	-	NC_000013.11:g.106495831T>C	ExAC,gnomAD
rs1362205327	p.Leu142Val	missense variant	-	NC_000013.11:g.106495823A>C	gnomAD
rs760433262	p.Glu149Lys	missense variant	-	NC_000013.11:g.106495802C>T	ExAC,gnomAD
rs1370177680	p.Gln154His	missense variant	-	NC_000013.11:g.106495785C>G	gnomAD
rs1308922625	p.Thr155Arg	missense variant	-	NC_000013.11:g.106495783G>C	gnomAD
rs1378141589	p.Gln166His	missense variant	-	NC_000013.11:g.106495749T>G	gnomAD
rs765866206	p.Ala168Val	missense variant	-	NC_000013.11:g.106494991G>A	ExAC,gnomAD
rs765866206	p.Ala168Glu	missense variant	-	NC_000013.11:g.106494991G>T	ExAC,gnomAD
rs762444187	p.Ser169Gly	missense variant	-	NC_000013.11:g.106494989T>C	ExAC
rs777021555	p.Ser169Arg	missense variant	-	NC_000013.11:g.106494987A>C	ExAC,gnomAD
rs1268793106	p.Ala171Gly	missense variant	-	NC_000013.11:g.106494982G>C	gnomAD
rs747367813	p.Arg175Thr	missense variant	-	NC_000013.11:g.106494970C>G	ExAC,gnomAD
rs1022032711	p.Arg175Gly	missense variant	-	NC_000013.11:g.106494971T>C	TOPMed,gnomAD
rs772473336	p.Asp178Gly	missense variant	-	NC_000013.11:g.106494961T>C	ExAC,gnomAD
rs772473336	p.Asp178Ala	missense variant	-	NC_000013.11:g.106494961T>G	ExAC,gnomAD
rs746057065	p.Pro179Ala	missense variant	-	NC_000013.11:g.106494959G>C	ExAC,TOPMed,gnomAD
rs766373079	p.Pro179Leu	missense variant	-	NC_000013.11:g.106494958G>A	ExAC,gnomAD
rs757424867	p.Thr180Ile	missense variant	-	NC_000013.11:g.106494955G>A	ExAC,gnomAD
rs749323234	p.Arg182Cys	missense variant	-	NC_000013.11:g.106494950G>A	ExAC,TOPMed,gnomAD
rs777601389	p.Arg182His	missense variant	-	NC_000013.11:g.106494949C>T	ExAC,TOPMed,gnomAD
rs756029444	p.Ala187Gly	missense variant	-	NC_000013.11:g.106494934G>C	ExAC,gnomAD
rs1187085849	p.Thr189Ile	missense variant	-	NC_000013.11:g.106494928G>A	gnomAD
rs894985504	p.Asn190Asp	missense variant	-	NC_000013.11:g.106494926T>C	TOPMed
rs754687503	p.Ser193Cys	missense variant	-	NC_000013.11:g.106494917T>A	ExAC,gnomAD
rs751195816	p.Ser193Asn	missense variant	-	NC_000013.11:g.106494916C>T	ExAC,TOPMed,gnomAD
rs1289393194	p.Ser194Leu	missense variant	-	NC_000013.11:g.106494913G>A	gnomAD
rs1320049265	p.Ser194Ala	missense variant	-	NC_000013.11:g.106494914A>C	gnomAD
rs762378017	p.Thr196Ile	missense variant	-	NC_000013.11:g.106494907G>A	ExAC
rs1316818279	p.Pro198Thr	missense variant	-	NC_000013.11:g.106494902G>T	gnomAD
rs1225906757	p.Pro202Leu	missense variant	-	NC_000013.11:g.106494889G>A	gnomAD
rs772741398	p.Asn203Asp	missense variant	-	NC_000013.11:g.106494887T>C	ExAC,gnomAD
rs761153335	p.Gly205Val	missense variant	-	NC_000013.11:g.106493428C>A	ExAC,gnomAD
rs753243306	p.Ser207Gly	missense variant	-	NC_000013.11:g.106493423T>C	ExAC,TOPMed,gnomAD
rs774806191	p.Gly210Asp	missense variant	-	NC_000013.11:g.106493413C>T	ExAC,gnomAD
rs368363140	p.Gly210Ser	missense variant	-	NC_000013.11:g.106493414C>T	ESP,ExAC,TOPMed,gnomAD
rs1479080972	p.Ser212Gly	missense variant	-	NC_000013.11:g.106493408T>C	gnomAD
rs763200557	p.Ala213Thr	missense variant	-	NC_000013.11:g.106493405C>T	ExAC,gnomAD
rs1206370418	p.Gly214Glu	missense variant	-	NC_000013.11:g.106493401C>T	gnomAD
rs187616302	p.Gly214Arg	missense variant	-	NC_000013.11:g.106493402C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1359543963	p.His215Leu	missense variant	-	NC_000013.11:g.106493398T>A	TOPMed
rs374186548	p.His215Tyr	missense variant	-	NC_000013.11:g.106493399G>A	ESP,ExAC,TOPMed,gnomAD
rs372295978	p.Ser216Trp	missense variant	-	NC_000013.11:g.106493395G>C	ESP,ExAC,TOPMed,gnomAD
rs372295978	p.Ser216Leu	missense variant	-	NC_000013.11:g.106493395G>A	ESP,ExAC,TOPMed,gnomAD
rs1346890653	p.Asn218Ser	missense variant	-	NC_000013.11:g.106493389T>C	gnomAD
rs142444756	p.Ile220Val	missense variant	-	NC_000013.11:g.106493384T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750087469	p.Gly222Ser	missense variant	-	NC_000013.11:g.106493378C>T	ExAC,gnomAD
rs1464916257	p.Glu224Lys	missense variant	-	NC_000013.11:g.106493372C>T	TOPMed,gnomAD
rs569507869	p.Ala232Val	missense variant	-	NC_000013.11:g.106493347G>A	1000Genomes,ExAC,gnomAD
rs1176044762	p.Ser233Ter	stop gained	-	NC_000013.11:g.106493344G>C	gnomAD
rs117593693	p.Cys235Ser	missense variant	-	NC_000013.11:g.106493339A>T	1000Genomes,ExAC,gnomAD
rs1181576254	p.Ile236Val	missense variant	-	NC_000013.11:g.106493336T>C	gnomAD
rs1254330886	p.Ile237Val	missense variant	-	NC_000013.11:g.106493333T>C	gnomAD
rs766757594	p.Val240Ile	missense variant	-	NC_000013.11:g.106493324C>T	ExAC,TOPMed,gnomAD
rs763140659	p.Ile241Val	missense variant	-	NC_000013.11:g.106493321T>C	ExAC,gnomAD
rs201989523	p.Ile243Val	missense variant	-	NC_000013.11:g.106493315T>C	ESP,ExAC,TOPMed,gnomAD
rs1325617911	p.Thr244Met	missense variant	-	NC_000013.11:g.106493311G>A	TOPMed,gnomAD
rs776646689	p.Val246Ala	missense variant	-	NC_000013.11:g.106493305A>G	ExAC,gnomAD
rs775214873	p.Leu248Val	missense variant	-	NC_000013.11:g.106493300G>C	ExAC,gnomAD
rs1303819517	p.Tyr252Cys	missense variant	-	NC_000013.11:g.106493287T>C	gnomAD
rs745592223	p.Arg253Gly	missense variant	-	NC_000013.11:g.106493285G>C	ExAC,TOPMed,gnomAD
rs778657657	p.Arg253Gln	missense variant	-	NC_000013.11:g.106493284C>T	ExAC,gnomAD
rs745592223	p.Arg253Trp	missense variant	-	NC_000013.11:g.106493285G>A	ExAC,TOPMed,gnomAD
rs748856177	p.His256Tyr	missense variant	-	NC_000013.11:g.106493276G>A	ExAC,gnomAD
rs755606363	p.Ser260Thr	missense variant	-	NC_000013.11:g.106493264A>T	ExAC,TOPMed,gnomAD
rs755606363	p.Ser260Pro	missense variant	-	NC_000013.11:g.106493264A>G	ExAC,TOPMed,gnomAD
rs752089244	p.Ser260Leu	missense variant	-	NC_000013.11:g.106493263G>A	ExAC,TOPMed,gnomAD
rs765521052	p.Thr264Met	missense variant	-	NC_000013.11:g.106493251G>A	ExAC,TOPMed,gnomAD
rs1464995228	p.Thr265Asn	missense variant	-	NC_000013.11:g.106493248G>T	gnomAD
rs1262087515	p.Thr266Ala	missense variant	-	NC_000013.11:g.106493246T>C	gnomAD
rs190855238	p.Thr266Met	missense variant	-	NC_000013.11:g.106493245G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1313807581	p.Leu267Val	missense variant	-	NC_000013.11:g.106493243G>C	TOPMed,gnomAD
rs954164031	p.Ser268Leu	missense variant	-	NC_000013.11:g.106493239G>A	gnomAD
rs771862640	p.Leu269Pro	missense variant	-	NC_000013.11:g.106493236A>G	ExAC,gnomAD
rs1435870127	p.Ser270Asn	missense variant	-	NC_000013.11:g.106493233C>T	gnomAD
rs1387180956	p.Thr271Ala	missense variant	-	NC_000013.11:g.106493231T>C	TOPMed,gnomAD
rs1387180956	p.Thr271Pro	missense variant	-	NC_000013.11:g.106493231T>G	TOPMed,gnomAD
rs1481927436	p.Leu272Val	missense variant	-	NC_000013.11:g.106493228G>C	TOPMed
rs1178422650	p.Ala273Thr	missense variant	-	NC_000013.11:g.106493225C>T	TOPMed
rs377711689	p.Arg277Cys	missense variant	-	NC_000013.11:g.106493213G>A	ESP,ExAC,gnomAD
rs374559924	p.Arg277Leu	missense variant	-	NC_000013.11:g.106493212C>A	ESP,ExAC,TOPMed,gnomAD
rs374559924	p.Arg277His	missense variant	-	NC_000013.11:g.106493212C>T	ESP,ExAC,TOPMed,gnomAD
rs764803364	p.Gly279Val	missense variant	-	NC_000013.11:g.106493206C>A	ExAC,TOPMed,gnomAD
rs1187894749	p.Gly279Ser	missense variant	-	NC_000013.11:g.106493207C>T	TOPMed,gnomAD
rs764803364	p.Gly279Asp	missense variant	-	NC_000013.11:g.106493206C>T	ExAC,TOPMed,gnomAD
rs1263156198	p.Asn281Asp	missense variant	-	NC_000013.11:g.106493201T>C	gnomAD
rs747541545	p.Gly283Asp	missense variant	-	NC_000013.11:g.106493194C>T	ExAC,gnomAD
rs370876035	p.Ser284Leu	missense variant	-	NC_000013.11:g.106493191G>A	ESP,ExAC,TOPMed,gnomAD
rs757543125	p.Ser287Gly	missense variant	-	NC_000013.11:g.106493183T>C	ExAC,gnomAD
rs1229730192	p.Asp288Asn	missense variant	-	NC_000013.11:g.106493180C>T	gnomAD
rs1299202339	p.Pro292Leu	missense variant	-	NC_000013.11:g.106493167G>A	gnomAD
rs767538286	p.Ala296Ser	missense variant	-	NC_000013.11:g.106493156C>A	ExAC,TOPMed,gnomAD
rs1305239957	p.Ala296Val	missense variant	-	NC_000013.11:g.106493155G>A	TOPMed,gnomAD
rs1368423495	p.Asp297Asn	missense variant	-	NC_000013.11:g.106493153C>T	gnomAD
rs1167748685	p.Ser298Asn	missense variant	-	NC_000013.11:g.106493149C>T	gnomAD
rs770833245	p.Val299Ile	missense variant	-	NC_000013.11:g.106493147C>T	ExAC,TOPMed,gnomAD
rs1474059835	p.Cys301Tyr	missense variant	-	NC_000013.11:g.106493140C>T	TOPMed
rs780547614	p.Glu305Asp	missense variant	-	NC_000013.11:g.106493127C>G	ExAC,TOPMed,gnomAD
rs535855285	p.Glu305Lys	missense variant	-	NC_000013.11:g.106493129C>T	ExAC,TOPMed,gnomAD
rs141594061	p.Ser308Arg	missense variant	-	NC_000013.11:g.106493118G>T	ESP,ExAC,TOPMed,gnomAD
rs530509657	p.Gly309Arg	missense variant	-	NC_000013.11:g.106493117C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759930636	p.Gly312Arg	missense variant	-	NC_000013.11:g.106493108C>T	ExAC,TOPMed,gnomAD
rs931101990	p.His313Gln	missense variant	-	NC_000013.11:g.106493103G>C	TOPMed,gnomAD
rs1271072181	p.Pro314Leu	missense variant	-	NC_000013.11:g.106493101G>A	TOPMed
rs1307104888	p.Ile317Val	missense variant	-	NC_000013.11:g.106493093T>C	gnomAD
rs767489766	p.Glu320Ter	stop gained	-	NC_000013.11:g.106493084C>A	ExAC
rs759571591	p.Pro322Ala	missense variant	-	NC_000013.11:g.106493078G>C	ExAC,gnomAD
rs766350222	p.Pro323Ser	missense variant	-	NC_000013.11:g.106493075G>A	ExAC,TOPMed,gnomAD
rs766350222	p.Pro323Thr	missense variant	-	NC_000013.11:g.106493075G>T	ExAC,TOPMed,gnomAD
rs183251835	p.Pro323Leu	missense variant	-	NC_000013.11:g.106493074G>A	1000Genomes,ExAC,gnomAD
rs761345466	p.Pro326Leu	missense variant	-	NC_000013.11:g.106493065G>A	ExAC,TOPMed,gnomAD
rs761345466	p.Pro326Arg	missense variant	-	NC_000013.11:g.106493065G>C	ExAC,TOPMed,gnomAD
rs761345466	p.Pro326Gln	missense variant	-	NC_000013.11:g.106493065G>T	ExAC,TOPMed,gnomAD
rs1182962612	p.Ala327Thr	missense variant	-	NC_000013.11:g.106493063C>T	gnomAD
rs776275451	p.Ala327Gly	missense variant	-	NC_000013.11:g.106493062G>C	ExAC,TOPMed,gnomAD
rs776275451	p.Ala327Val	missense variant	-	NC_000013.11:g.106493062G>A	ExAC,TOPMed,gnomAD
rs1409820027	p.Asn328Asp	missense variant	-	NC_000013.11:g.106493060T>C	TOPMed,gnomAD
rs1409820027	p.Asn328Tyr	missense variant	-	NC_000013.11:g.106493060T>A	TOPMed,gnomAD
rs142390625	p.Ile329Val	missense variant	-	NC_000013.11:g.106493057T>C	ESP,ExAC,TOPMed,gnomAD
rs1324905301	p.Lys332Arg	missense variant	-	NC_000013.11:g.106493047T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003864	Arthritis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004114	Astrocytoma	disease	BEFREE
C0004565	Melanoma, B16	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE
C0009375	Colonic Neoplasms	group	LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE;LHGDN
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0017168	Gastroesophageal reflux disease	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018834	Heartburn	phenotype	BEFREE
C0022658	Kidney Diseases	group	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE;CTD_human
C0024121	Lung Neoplasms	group	CTD_human
C0024299	Lymphoma	group	BEFREE
C0024419	Waldenstrom Macroglobulinemia	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE;LHGDN
C0032927	Precancerous Conditions	group	CTD_human
C0035126	Reperfusion Injury	disease	CTD_human
C0035309	Retinal Diseases	group	BEFREE
C0036220	Kaposi Sarcoma	disease	BEFREE;LHGDN
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0038356	Stomach Neoplasms	group	LHGDN
C0151718	Hypocholesterolemia	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0242379	Malignant neoplasm of lung	disease	CTD_human
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0282313	Condition, Preneoplastic	phenotype	CTD_human
C0345904	Malignant neoplasm of liver	disease	CTD_human
C0549473	Thyroid carcinoma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2945695	Limb ischemia	disease	BEFREE
C3714514	Infection	group	LHGDN

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001618	virus receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0046875	ephrin receptor binding	IPI
GO:0046875	ephrin receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001945	lymph vessel development	IEA
GO:0002042	cell migration involved in sprouting angiogenesis	IDA
GO:0007155	cell adhesion	IDA
GO:0007267	cell-cell signaling	TAS
GO:0007411	axon guidance	IBA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0009653	anatomical structure morphogenesis	TAS
GO:0009887	animal organ morphogenesis	IEA
GO:0010839	negative regulation of keratinocyte proliferation	IEA
GO:0010977	negative regulation of neuron projection development	IDA
GO:0031295	T cell costimulation	IEA
GO:0034332	adherens junction organization	IEA
GO:0046718	viral entry into host cell	IEA
GO:0048013	ephrin receptor signaling pathway	IDA
GO:0048013	ephrin receptor signaling pathway	IBA
GO:0048013	ephrin receptor signaling pathway	TAS
GO:0048514	blood vessel morphogenesis	IBA
GO:0048845	venous blood vessel morphogenesis	IEA
GO:0050920	regulation of chemotaxis	IDA
GO:0072178	nephric duct morphogenesis	IEA
GO:0099054	presynapse assembly	IEA
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA
GO:1901216	positive regulation of neuron death	IDA
GO:1903849	positive regulation of aorta morphogenesis	IEA
GO:2000727	positive regulation of cardiac muscle cell differentiation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0005912	adherens junction	IEA
GO:0005925	focal adhesion	HDA
GO:0098685	Schaffer collateral - CA1 synapse	IEA
GO:0098978	glutamatergic synapse	IEA
GO:0099056	integral component of presynaptic membrane	IEA
GO:0099061	integral component of postsynaptic density membrane	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-3928662	EPHB-mediated forward signaling	TAS
R-HSA-3928662	EPHB-mediated forward signaling	IEA
R-HSA-3928664	Ephrin signaling	IEA
R-HSA-3928664	Ephrin signaling	TAS
R-HSA-3928665	EPH-ephrin mediated repulsion of cells	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of EFNB2 mRNA	26377693
C569107	1-(2-chlorobenzyl)-5'-phenyl-3'H-spiro(indoline-3,2'-(1,3,4)thiadiazol)-2-one	1-(2-chlorobenzyl)-5'-phenyl-3'H-spiro(indoline-3,2'-(1,3,4)thiadiazol)-2-one results in decreased expression of EFNB2 mRNA	23826121
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of EFNB2 mRNA	19933214
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of EFNB2 mRNA	19167446
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of EFNB2 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide results in increased expression of EFNB2 protein	25670856
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 EFNB2 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 results in decreased expression of EFNB2 mRNA	20018196
C496492	abrine	abrine results in increased expression of EFNB2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of EFNB2 mRNA	21420995
D000111	Acetylcysteine	Acetylcysteine results in decreased expression of EFNB2 mRNA	16084531
D020106	Acrylamide	Acrylamide results in decreased expression of EFNB2 mRNA	28959563
D000393	Air Pollutants	Air Pollutants analog results in increased expression of EFNB2 mRNA	21757418
D000447	Aldehydes	Aldehydes results in increased expression of EFNB2 mRNA	25014914
D000661	Amphetamine	Amphetamine results in decreased expression of EFNB2 mRNA	30779732
D001151	Arsenic	Arsenic results in decreased expression of EFNB2 mRNA	19654921
D001280	Atrazine	Atrazine results in decreased expression of EFNB2 mRNA	22378314
C547126	AZM551248	AZM551248 results in decreased expression of EFNB2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EFNB2 mRNA	21569818
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of EFNB2 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EFNB2 mRNA	22300585
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of EFNB2 mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of EFNB2 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of EFNB2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of EFNB2 mRNA	16474171; 29275510;
C006780	bisphenol A	bisphenol A results in increased expression of EFNB2 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of EFNB2 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of EFNB2 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of EFNB2 mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of EFNB2 mRNA	16002434; 21592394;
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of EFNB2 mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of EFNB2 mRNA	17484886
C100187	chloropicrin	chloropicrin results in increased expression of EFNB2 mRNA	26352163
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of EFNB2 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of EFNB2 mRNA	28472532
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of EFNB2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of EFNB2 mRNA	27392435
D003042	Cocaine	Cocaine results in increased expression of EFNB2 mRNA	15691709
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of EFNB2 mRNA	20971185
D003300	Copper	Copper results in increased expression of EFNB2 mRNA	30556269
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of EFNB2 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of EFNB2 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of EFNB2 mRNA	19167446
D003609	Dactinomycin	Dactinomycin inhibits the reaction [Tretinoin results in increased expression of EFNB2 mRNA]	16688769
D000077209	Decitabine	Decitabine results in decreased expression of EFNB2 mRNA	27915011
D004041	Dietary Fats	Dietary Fats results in decreased expression of EFNB2 mRNA	29844565
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 EFNB2 mRNA	27188386
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in increased expression of EFNB2 mRNA	23811387
C118739	entinostat	entinostat results in decreased expression of EFNB2 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 EFNB2 mRNA	27188386
C045651	epigallocatechin gallate	epigallocatechin gallate results in decreased expression of EFNB2 mRNA	16084531
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of EFNB2 mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of EFNB2 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of EFNB2 mRNA	16474171
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of EFNB2 mRNA	17404688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of EFNB2 mRNA	23129252
D017313	Fenretinide	Fenretinide results in increased expression of EFNB2 mRNA	28973697
D005472	Fluorouracil	EFNB2 protein affects the susceptibility to Fluorouracil	15352031; 16217747;
D005472	Fluorouracil	Fluorouracil results in decreased expression of EFNB2 protein	15352031
D005485	Flutamide	Flutamide results in increased expression of EFNB2 mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of EFNB2 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of EFNB2 mRNA	20655997
C039281	furan	furan results in decreased expression of EFNB2 mRNA	25539665
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of EFNB2 mRNA	29432896
C106014	gedunin	gedunin results in decreased expression of EFNB2 mRNA	17010675
D019833	Genistein	Genistein results in decreased expression of EFNB2 mRNA	16474171; 26865667;
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of EFNB2 mRNA	20044591
C492448	ICG 001	ICG 001 results in decreased expression of EFNB2 mRNA	26191083
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of EFNB2 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of EFNB2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of EFNB2 mRNA	26752646; 27292261;
D008095	Lithocholic Acid	Lithocholic Acid inhibits the reaction [[EPHB4 protein binds to EFNB2 protein] which results in increased phosphorylation of EPHB4 protein]	21479221
D008694	Methamphetamine	Methamphetamine results in decreased expression of EFNB2 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of EFNB2 gene	20938992
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of EFNB2 mRNA	16809437
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EFNB2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EFNB2 mRNA	25554681
D009285	Naphthoquinones	Naphthoquinones results in increased expression of EFNB2 mRNA	23811387
C007350	nitrofen	nitrofen results in increased expression of EFNB2 mRNA	30106123
C007350	nitrofen	nitrofen results in increased expression of EFNB2 protein	30106123
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of EFNB2 mRNA	20971185
D010126	Ozone	Ozone results in decreased expression of EFNB2 mRNA	12763052
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of EFNB2 mRNA	29432896
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of EFNB2 mRNA	18593933
C046012	pentanal	pentanal results in increased expression of EFNB2 mRNA	26079696
D010634	Phenobarbital	Phenobarbital affects the methylation of EFNB2 gene	19233941
C006253	pirinixic acid	pirinixic acid results in increased expression of EFNB2 mRNA	23811191
D010938	Plant Oils	Plant Oils results in increased expression of EFNB2 mRNA	23370395
D011078	Polychlorinated Biphenyls	Polychlorinated Biphenyls analog results in decreased expression of EFNB2 mRNA	16474171
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of EFNB2 mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of EFNB2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of EFNB2 mRNA	22079256
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of EFNB2 mRNA	17404688
D011374	Progesterone	Progesterone results in decreased expression of EFNB2 mRNA	17404688
C005556	propionaldehyde	propionaldehyde results in increased expression of EFNB2 mRNA	26079696
D011794	Quercetin	Quercetin results in increased expression of EFNB2 mRNA	21632981
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of EFNB2 mRNA	19167446
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of EFNB2 mRNA	23806026; 25895662;
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of EFNB2 mRNA	25351596
C017947	sodium arsenite	sodium arsenite results in decreased expression of EFNB2 mRNA	12727804; 28595984;
D013311	Streptozocin	Streptozocin affects the expression of EFNB2 mRNA	26073000
D000077210	Sunitinib	Sunitinib results in increased expression of EFNB2 mRNA	31533062
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of EFNB2 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of EFNB2 mRNA	21592394
C004648	testosterone enanthate	testosterone enanthate affects the expression of EFNB2 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of EFNB2 mRNA	19933214
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of EFNB2 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of EFNB2 mRNA	20133372
D014118	Toxins, Biological	Toxins, Biological affects the expression of EFNB2 mRNA	19682533
D014212	Tretinoin	Tretinoin affects the expression of EFNB2 mRNA	16251210
D014212	Tretinoin	Dactinomycin inhibits the reaction [Tretinoin results in increased expression of EFNB2 mRNA]	16688769
D014212	Tretinoin	Tretinoin results in increased expression of EFNB2 mRNA	16688769; 23724009; 23830798;
C012589	trichostatin A	trichostatin A results in increased expression of EFNB2 mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of EFNB2 mRNA	19042947
C050414	tripterine	tripterine results in decreased expression of EFNB2 mRNA	17010675
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of EFNB2 mRNA	29024780
D000077288	Troglitazone	Troglitazone results in increased expression of EFNB2 mRNA	17569031
D014415	Tunicamycin	Tunicamycin results in decreased expression of EFNB2 mRNA	22378314
D014415	Tunicamycin	Tunicamycin results in increased expression of EFNB2 mRNA	17127020
D014520	Urethane	Urethane results in increased expression of EFNB2 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of EFNB2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of EFNB2 mRNA	24383497; 24935251; 29154799;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of EFNB2 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of EFNB2 mRNA	19015723
D024483	Vitamin K 3	Vitamin K 3 results in decreased expression of EFNB2 mRNA	25270620
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of EFNB2 mRNA	18593933
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of EFNB2 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0037	Angiogenesis
KW-0965	Cell junction
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-0221	Differentiation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1183	Host cell receptor for virus entry
KW-0945	Host-virus interaction
KW-0472	Membrane
KW-0488	Methylation
KW-0524	Neurogenesis
KW-0597	Phosphoprotein
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR008972	Cupredoxin
IPR031328	Ephrin
IPR034255	Ephrin-B_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: EFNB2

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