SLC39A14

solute carrier family 39 member 14

Summary

This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

Known Variants207 total

rsidPosition (GRCh37)AllelesClassClinVar
rs287252348:22,228,970G/T——
rs353058498:22,239,587G/Aintron variant—
rs111360218:22,244,672T/G——
rs354865298:22,251,868C/G——
rs607124518:22,259,626A/Gintron variant—
rs791443838:22,261,975G/T—benign
rs760098018:22,262,054A/G—benign
rs8963758:22,262,098A/G—benign
rs70125038:22,262,139C/T—benign
rs8963768:22,262,142G/A—benign
rs8963778:22,262,183G/C—benign
rs7702494148:22,262,244C/G—uncertain significance
rs343287878:22,262,246C/G—conflicting classifications of pathogenicity
rs1125686518:22,262,247A/G—conflicting classifications of pathogenicity
rs12260478388:22,262,249C/T—uncertain significance
rs7762402448:22,262,255A/G—uncertain significance
rs7583354848:22,262,274C/T—likely benign
rs9838678998:22,262,275C/T—likely benign
rs1839889808:22,262,281G/A—conflicting classifications of pathogenicity
rs7513253998:22,262,287T/C—uncertain significance
rs24870399578:22,262,298C/T—likely benign
rs1173491898:22,262,300C/T—uncertain significance
rs13903905578:22,262,302G/A—uncertain significance
rs11682391338:22,262,303A/G—uncertain significance
rs8963788:22,262,321T/C—benign
rs24870406038:22,262,325T/A—likely benign
rs7747254068:22,262,340C/T—likely benign
rs24870410248:22,262,343T/C—likely benign
rs7763986838:22,262,357A/G—uncertain significance
rs7616158088:22,262,359G/A—uncertain significance
rs339994428:22,262,379T/C—benign
rs18351199478:22,262,394C/T—likely benign
rs18351203608:22,262,401C/T—pathogenic
rs22931448:22,262,418A/G—benign
rs7563298068:22,262,421C/G—likely benign
rs21323103238:22,262,443G/C—uncertain significance
rs7777685798:22,262,446C/T—uncertain significance
rs7464345408:22,262,455G/A—uncertain significance
rs14883768948:22,262,462A/G—uncertain significance
rs7725510308:22,262,466C/T—likely benign
rs1503776398:22,262,467G/A—uncertain significance
rs14099133488:22,262,479A/G—uncertain significance
rs5541006578:22,262,492C/T—likely benign
rs18351294908:22,262,512C/T—likely benign
rs101130268:22,262,630G/A—benign
rs22931458:22,262,654A/T—benign
rs78236698:22,264,316A/Gregulatory region variant—
rs78280898:22,264,334T/A——
rs3764522668:22,265,803C/A—likely benign
rs1126877248:22,265,818T/C—likely benign
rs2015224428:22,265,827T/A—uncertain significance
rs8792537638:22,265,844T/Gmissense variantpathogenic
rs8792537648:22,265,865G/Tstop gainedpathogenic
rs1381144388:22,265,873G/A—likely benign
rs7814858718:22,265,875G/A—uncertain significance
rs24870772218:22,265,894C/G—likely benign
rs18353540098:22,265,909C/T—likely benign
rs3676234988:22,265,918C/T—likely benign
rs15545190118:22,265,919C/T—not provided
rs12914907438:22,265,934C/T—conflicting classifications of pathogenicity
rs11619573298:22,265,939C/G—likely benign
rs1862254498:22,265,944C/T—uncertain significance
rs1437242148:22,265,947C/T—uncertain significance
rs1901538988:22,265,948G/A—benign
rs7780690798:22,265,963C/T—likely benign
rs10342848658:22,265,969G/T—uncertain significance
rs7531237578:22,265,980C/T—uncertain significance
rs7568151738:22,265,981G/A—likely benign
rs9588134308:22,265,989G/A—uncertain significance
rs9741121538:22,265,992G/A—uncertain significance
rs18353615408:22,265,993G/T—likely benign
rs7578888348:22,266,000G/A—uncertain significance
rs38174458:22,266,054G/T—benign
rs760542978:22,266,082T/G—benign
rs132665418:22,266,135G/A—benign
rs170608328:22,266,152C/T—benign
rs78165568:22,267,170T/A——
rs38021998:22,267,385G/A—benign
rs7494582538:22,267,444C/T—likely benign
rs18354703588:22,267,458G/T—uncertain significance
rs763697968:22,267,466C/T—benign
rs798565628:22,267,473T/G—likely benign
rs8792537658:22,267,478——pathogenic
rs15545193038:22,267,513G/A—not provided
rs21323337318:22,267,526G/A—likely benign
rs7526780048:22,267,544G/A—likely benign
rs5712439398:22,267,553C/T—likely benign
rs7611855008:22,267,575G/A—uncertain significance
rs7769411138:22,267,578C/T—likely benign
rs7656392398:22,267,591C/T—likely benign
rs7512124528:22,267,592G/A—likely benign
rs1444726798:22,267,604C/T—likely benign
rs24870974618:22,267,621T/C—likely benign
rs1484032098:22,267,622C/A—likely benign
rs759821508:22,269,454G/T—benign
rs7778639358:22,269,531C/T—likely benign
rs7591741818:22,269,540C/T—likely benign
rs5412830088:22,269,541G/A—likely benign
rs3759069258:22,269,544C/T—likely benign
rs5600262058:22,269,545G/A—conflicting classifications of pathogenicity

Showing 100 of 207 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.