EPHB2

EPH receptor B2

Summary

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

Known Variants104 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs78655189	1:23,046,887	C/T	downstream gene variant	—
rs142300927	1:23,051,567	C/T	intron variant	—
rs28455953	1:23,060,951	A/C	—	—
rs4263970	1:23,063,930	T/C	intron variant	—
rs4612601	1:23,067,044	G/A	intron variant	—
rs148608341	1:23,082,027	A/T	intron variant	—
rs202156735	1:23,110,922	C/T	—	uncertain significance
rs1159845464	1:23,110,928	G/A	—	uncertain significance
rs1355744617	1:23,110,968	C/T	—	likely benign
rs1570271096	1:23,110,998	C/A	—	likely benign
rs774815177	1:23,111,019	C/T	—	likely benign
rs371651342	1:23,111,037	G/A	—	likely benign
rs1557672162	1:23,111,102	A/G	—	uncertain significance
rs774252771	1:23,111,149	A/G	—	uncertain significance
rs746387783	1:23,111,151	G/A	—	uncertain significance
rs2148424377	1:23,111,188	G/A	—	uncertain significance
rs751856545	1:23,111,260	C/T	—	uncertain significance
rs61732489	1:23,111,268	C/T	—	benign
rs567475875	1:23,111,270	G/A	—	uncertain significance
rs752597558	1:23,111,305	G/A	—	uncertain significance
rs1570271850	1:23,111,319	C/T	—	likely benign
rs763878876	1:23,111,323	G/A	—	uncertain significance
rs1020423787	1:23,111,353	C/T	—	not provided
rs141122680	1:23,111,382	G/A	—	benign
rs149351655	1:23,111,412	G/T	—	likely benign
rs1371869	1:23,111,415	G/A	—	benign
rs2522831390	1:23,111,431	A/G	—	uncertain significance
rs751678134	1:23,111,439	C/T	—	likely benign
rs374426229	1:23,111,448	G/A	—	likely benign
rs768617454	1:23,111,484	C/T	—	likely benign
rs761772326	1:23,111,490	C/T	—	likely benign
rs778010315	1:23,111,538	C/T	—	likely benign
rs150803261	1:23,111,545	G/A	—	likely benign
rs10465543	1:23,134,218	G/A	intron variant	—
rs60120500	1:23,140,982	G/A	intron variant	—
rs12090415	1:23,155,231	A/C	—	—
rs7514049	1:23,175,046	T/C	regulatory region variant	—
rs1553171703	1:23,189,527	C/G	—	uncertain significance
rs35882952	1:23,189,553	G/T	missense variant	pathogenic
rs1256565919	1:23,189,627	T/C	—	likely benign
rs75882465	1:23,189,648	C/T	—	benign
rs752199354	1:23,189,663	C/G	—	uncertain significance
rs774519713	1:23,191,363	G/A	—	likely benign
rs199559345	1:23,191,383	G/A	—	likely benign
rs141626076	1:23,191,508	G/A	—	likely benign
rs902421968	1:23,191,552	C/T	—	uncertain significance
rs1570408054	1:23,191,587	C/T	—	likely benign
rs2521676193	1:23,191,588	A/G	—	uncertain significance
rs550152998	1:23,191,635	G/C	—	benign
rs149014913	1:23,191,642	G/A	—	uncertain significance
rs866069361	1:23,191,648	G/A	—	uncertain significance
rs771598124	1:23,208,888	G/A	—	uncertain significance
rs200120268	1:23,208,913	G/A	—	likely benign
rs764896361	1:23,208,921	A/G	—	uncertain significance
rs2229872	1:23,208,925	G/A	—	benign
rs138075206	1:23,219,377	G/A	—	likely benign
rs370664820	1:23,219,424	G/A	—	likely benign
rs373865135	1:23,219,449	G/A	—	uncertain significance
rs309472	1:23,219,493	T/C	—	benign
rs2148566890	1:23,219,526	G/C	—	uncertain significance
rs781320568	1:23,221,975	G/C	—	uncertain significance
rs35847739	1:23,222,062	C/A	—	benign
rs374837404	1:23,222,083	G/A	—	likely benign
rs376417187	1:23,222,910	G/A	—	likely benign
rs56264796	1:23,222,928	C/T	—	benign
rs753914148	1:23,222,955	C/T	—	likely benign
rs192570926	1:23,232,471	G/T	—	benign
rs142696573	1:23,232,502	C/T	—	likely benign
rs2522051799	1:23,232,524	G/A	—	uncertain significance
rs558302888	1:23,232,531	A/G	—	uncertain significance
rs200952273	1:23,232,567	T/A	—	likely benign
rs184594165	1:23,232,611	C/T	—	benign
rs1381291444	1:23,233,245	G/T	—	uncertain significance
rs142173175	1:23,233,263	T/C	—	benign
rs55927202	1:23,233,270	C/T	—	likely benign
rs572806847	1:23,233,345	C/T	—	likely benign
rs28936395	1:23,233,346	G/A	missense variant	likely benign
rs757754267	1:23,233,348	C/A	—	uncertain significance
rs1329983524	1:23,233,441	C/T	—	likely benign
rs121912582	1:23,234,473	C/T	stop gained	pathogenic
rs149590849	1:23,234,535	T/C	—	likely benign
rs761749948	1:23,234,542	C/T	—	pathogenic
rs141476431	1:23,234,574	C/T	—	likely benign
rs201156841	1:23,234,584	G/A	—	uncertain significance
rs141632768	1:23,234,628	C/T	—	likely benign
rs376647308	1:23,235,517	C/T	—	likely benign
rs138551214	1:23,235,518	G/A	missense variant	—
rs201751121	1:23,235,571	C/T	—	likely benign
rs373295870	1:23,235,577	G/A	—	likely benign
rs1265310750	1:23,236,892	G/T	—	uncertain significance
rs549199396	1:23,236,932	G/A	—	uncertain significance
rs55993650	1:23,236,997	G/A	—	benign
rs753505053	1:23,237,008	C/T	—	uncertain significance
rs147815673	1:23,237,012	A/G	—	likely benign
rs2522099513	1:23,237,061	T/C	—	uncertain significance
rs1482826393	1:23,237,062	C/A	—	uncertain significance
rs772539501	1:23,238,928	C/T	—	likely benign
rs1365133140	1:23,238,973	C/A	—	uncertain significance
rs138093963	1:23,238,991	G/A	—	likely benign
rs1406319873	1:23,239,032	A/C	—	uncertain significance

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.