Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD more ... | CTD | PMID:19479076 more ... | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | type 2 diabetes mellitus | | EXP | | 11554173 | CTD more ... | CTD | PMID:19479076 more ... | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
SLC30A8 (Homo sapiens - human) |
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Slc30a8 (Mus musculus - house mouse) |
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Slc30a8 (Rattus norvegicus - Norway rat) |
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Slc30a8 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC30A8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC30A8 (Canis lupus familiaris - dog) |
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Slc30a8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC30A8 (Sus scrofa - pig) |
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SLC30A8 (Chlorocebus sabaeus - green monkey) |
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Slc30a8 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC30A8
48 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) | single nucleotide variant | Diabetes mellitus type 2, susceptibility to [RCV000001055]|SLC30A8-related condition [RCV003974786] | Chr8:117172544 [GRCh38] Chr8:118184783 [GRCh37] Chr8:8q24.11 |
risk factor|benign |
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 | copy number gain | See cases [RCV000050638] | Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 | copy number loss | See cases [RCV000054301] | Chr8:113288454..126716087 [GRCh38] Chr8:114300683..127728332 [GRCh37] Chr8:114369859..127797514 [NCBI36] Chr8:8q23.3-24.21 |
pathogenic |
NM_173851.2(SLC30A8):c.130G>A (p.Glu44Lys) | single nucleotide variant | Malignant melanoma [RCV000068115] | Chr8:117147012 [GRCh38] Chr8:118159251 [GRCh37] Chr8:118228432 [NCBI36] Chr8:8q24.11 |
not provided |
NM_001172813.1(SLC30A8):c.195C>T (p.Phe65=) | single nucleotide variant | Malignant melanoma [RCV000068116] | Chr8:117153014 [GRCh38] Chr8:118165253 [GRCh37] Chr8:118234434 [NCBI36] Chr8:8q24.11 |
not provided |
NM_001172813.1(SLC30A8):c.666C>T (p.Ser222=) | single nucleotide variant | Malignant melanoma [RCV000061736] | Chr8:117163514 [GRCh38] Chr8:118175753 [GRCh37] Chr8:118244934 [NCBI36] Chr8:8q24.11 |
not provided |
NM_001172813.1(SLC30A8):c.-397+19701G>A | single nucleotide variant | Lung cancer [RCV000106962] | Chr8:116970820 [GRCh38] Chr8:117983059 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_001172813.1(SLC30A8):c.-274+61280A>G | single nucleotide variant | Lung cancer [RCV000106963] | Chr8:117068393 [GRCh38] Chr8:118080632 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_001172813.1(SLC30A8):c.-273-2229G>T | single nucleotide variant | Lung cancer [RCV000106964] | Chr8:117133003 [GRCh38] Chr8:118145242 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_001172813.1(SLC30A8):c.682+958C>G | single nucleotide variant | Lung cancer [RCV000106965] | Chr8:117164488 [GRCh38] Chr8:118176727 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.412C>T (p.Arg138Ter) | single nucleotide variant | Type 2 diabetes mellitus [RCV000129930] | Chr8:117153084 [GRCh38] Chr8:118165323 [GRCh37] Chr8:8q24.11 |
protective |
NM_173851.3(SLC30A8):c.101_107del (p.Lys34fs) | deletion | Type 2 diabetes mellitus [RCV000129931] | Chr8:117146982..117146988 [GRCh38] Chr8:118159221..118159227 [GRCh37] Chr8:8q24.11 |
protective |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 | copy number loss | See cases [RCV000135291] | Chr8:113418060..120975305 [GRCh38] Chr8:114430289..121987545 [GRCh37] Chr8:114499465..122056726 [NCBI36] Chr8:8q23.3-24.12 |
pathogenic |
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 | copy number loss | See cases [RCV000135819] | Chr8:112528342..120083041 [GRCh38] Chr8:113540571..121095280 [GRCh37] Chr8:113609747..121164461 [NCBI36] Chr8:8q23.3-24.12 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 | copy number gain | See cases [RCV000135621] | Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 | copy number loss | See cases [RCV000139027] | Chr8:114560780..122594102 [GRCh38] Chr8:115573009..123606341 [GRCh37] Chr8:115642185..123675522 [NCBI36] Chr8:8q23.3-24.13 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 | copy number gain | See cases [RCV000140447] | Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 | copy number loss | See cases [RCV000140680] | Chr8:113933305..122621741 [GRCh38] Chr8:114945534..123633980 [GRCh37] Chr8:115014710..123703161 [NCBI36] Chr8:8q23.3-24.13 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 | copy number gain | See cases [RCV000141694] | Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 | copy number gain | See cases [RCV000142810] | Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1 | copy number loss | See cases [RCV000142553] | Chr8:116497730..117379167 [GRCh38] Chr8:117509968..118391406 [GRCh37] Chr8:117579149..118460587 [NCBI36] Chr8:8q23.3-24.11 |
uncertain significance |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1 | copy number loss | See cases [RCV000240065] | Chr8:117714768..119072307 [GRCh37] Chr8:8q24.11 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 | copy number loss | See cases [RCV000448650] | Chr8:107032887..120742018 [GRCh37] Chr8:8q23.1-24.12 |
pathogenic |
GRCh37/hg19 8q23.3-24.11(chr8:116902507-118942698)x1 | copy number loss | See cases [RCV000448534] | Chr8:116902507..118942698 [GRCh37] Chr8:8q23.3-24.11 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 | copy number gain | See cases [RCV000448954] | Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 | copy number gain | See cases [RCV000511761] | Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_173851.3(SLC30A8):c.502T>C (p.Tyr168His) | single nucleotide variant | Inborn genetic diseases [RCV003272248] | Chr8:117157774 [GRCh38] Chr8:118170013 [GRCh37] Chr8:8q24.11 |
likely benign |
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 | copy number gain | See cases [RCV000512401] | Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1 | copy number loss | See cases [RCV000512409] | Chr8:111137305..119897611 [GRCh37] Chr8:8q23.2-24.12 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 | copy number loss | not provided [RCV000683038] | Chr8:110250943..123515785 [GRCh37] Chr8:8q23.1-24.13 |
pathogenic |
Single allele | deletion | Trichorhinophalangeal dysplasia type I [RCV000735900] | Chr8:114508086..129040004 [GRCh37] Chr8:8q23.3-24.21 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.11(chr8:118005459-118008066)x1 | copy number loss | not provided [RCV000747789] | Chr8:118005459..118008066 [GRCh37] Chr8:8q24.11 |
benign |
NM_173851.3(SLC30A8):c.267C>T (p.Val89=) | single nucleotide variant | not provided [RCV000900304] | Chr8:117147149 [GRCh38] Chr8:118159388 [GRCh37] Chr8:8q24.11 |
likely benign |
NM_173851.3(SLC30A8):c.672T>C (p.Asp224=) | single nucleotide variant | not provided [RCV000928016] | Chr8:117161837 [GRCh38] Chr8:118174076 [GRCh37] Chr8:8q24.11 |
likely benign |
NM_173851.3(SLC30A8):c.928A>G (p.Met310Val) | single nucleotide variant | Inborn genetic diseases [RCV002536820]|not provided [RCV000880415] | Chr8:117171132 [GRCh38] Chr8:118183371 [GRCh37] Chr8:8q24.11 |
likely benign|uncertain significance |
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 | copy number loss | not provided [RCV001006131] | Chr8:111514791..123192373 [GRCh37] Chr8:8q23.2-24.13 |
pathogenic |
GRCh37/hg19 8q24.11(chr8:117972807-118034031)x1 | copy number loss | not provided [RCV001006133] | Chr8:117972807..118034031 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NC_000008.10:g.(?_117859739)_(120844804_?)del | deletion | not provided [RCV003107713] | Chr8:117859739..120844804 [GRCh37] Chr8:8q24.11-24.12 |
pathogenic |
NM_173851.3(SLC30A8):c.72T>C (p.Ser24=) | single nucleotide variant | not provided [RCV000974240] | Chr8:117146954 [GRCh38] Chr8:118159193 [GRCh37] Chr8:8q24.11 |
benign |
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 | copy number gain | not provided [RCV001259025] | Chr8:108421573..123429638 [GRCh37] Chr8:8q23.1-24.13 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 | copy number gain | See cases [RCV002285066] | Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q23.3-24.11(chr8:117255161-118322087)x3 | copy number gain | not provided [RCV001829194] | Chr8:117255161..118322087 [GRCh37] Chr8:8q23.3-24.11 |
uncertain significance |
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) | copy number loss | not specified [RCV002053793] | Chr8:107032887..120742018 [GRCh37] Chr8:8q23.1-24.12 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) | copy number gain | not specified [RCV002053772] | Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NC_000008.10:g.(?_116426251)_(120844804_?)del | deletion | Multiple congenital exostosis [RCV001958684]|Trichorhinophalangeal syndrome, type III [RCV001975070] | Chr8:116426251..120844804 [GRCh37] Chr8:8q23.3-24.12 |
pathogenic |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) | copy number gain | not provided [RCV002221452] | Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NC_000008.10:g.(?_117647788)_(120797526_?)dup | duplication | Multiple congenital exostosis [RCV003119346] | Chr8:117647788..120797526 [GRCh37] Chr8:8q23.3-24.12 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 | copy number gain | See cases [RCV002292707] | Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NM_173851.3(SLC30A8):c.746C>T (p.Pro249Leu) | single nucleotide variant | Inborn genetic diseases [RCV003281829] | Chr8:117163447 [GRCh38] Chr8:118175686 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.544T>C (p.Ser182Pro) | single nucleotide variant | Inborn genetic diseases [RCV002902165] | Chr8:117157816 [GRCh38] Chr8:118170055 [GRCh37] Chr8:8q24.11 |
uncertain significance |
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 | copy number gain | not provided [RCV002474526] | Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11 |
pathogenic |
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 | copy number loss | not provided [RCV002474553] | Chr8:112234557..133668379 [GRCh37] Chr8:8q23.3-24.22 |
pathogenic |
NM_173851.3(SLC30A8):c.632A>G (p.Asn211Ser) | single nucleotide variant | Inborn genetic diseases [RCV002969437] | Chr8:117161797 [GRCh38] Chr8:118174036 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.172A>C (p.Lys58Gln) | single nucleotide variant | Inborn genetic diseases [RCV002849488] | Chr8:117147054 [GRCh38] Chr8:118159293 [GRCh37] Chr8:8q24.11 |
likely benign |
NM_173851.3(SLC30A8):c.132G>T (p.Glu44Asp) | single nucleotide variant | Inborn genetic diseases [RCV002956676] | Chr8:117147014 [GRCh38] Chr8:118159253 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.235G>A (p.Ala79Thr) | single nucleotide variant | Inborn genetic diseases [RCV002745075] | Chr8:117147117 [GRCh38] Chr8:118159356 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.646G>A (p.Ala216Thr) | single nucleotide variant | Inborn genetic diseases [RCV003004158] | Chr8:117161811 [GRCh38] Chr8:118174050 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.133C>A (p.Leu45Met) | single nucleotide variant | Inborn genetic diseases [RCV002931768] | Chr8:117147015 [GRCh38] Chr8:118159254 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.835C>T (p.Pro279Ser) | single nucleotide variant | Inborn genetic diseases [RCV002718801] | Chr8:117171039 [GRCh38] Chr8:118183278 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.970A>G (p.Ser324Gly) | single nucleotide variant | Inborn genetic diseases [RCV002669844] | Chr8:117172541 [GRCh38] Chr8:118184780 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.755C>T (p.Thr252Ile) | single nucleotide variant | Inborn genetic diseases [RCV002898351] | Chr8:117163456 [GRCh38] Chr8:118175695 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.980G>C (p.Ser327Thr) | single nucleotide variant | Inborn genetic diseases [RCV002655314] | Chr8:117172551 [GRCh38] Chr8:118184790 [GRCh37] Chr8:8q24.11 |
uncertain significance |
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 | copy number gain | Neurodevelopmental disorder [RCV003327615] | Chr8:115586904..135607135 [GRCh38] Chr8:8q23.3-24.23 |
pathogenic |
NM_173851.3(SLC30A8):c.883G>A (p.Asp295Asn) | single nucleotide variant | Inborn genetic diseases [RCV003185986] | Chr8:117171087 [GRCh38] Chr8:118183326 [GRCh37] Chr8:8q24.11 |
uncertain significance |
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 | copy number loss | Exostoses, multiple, type 1 [RCV003329505] | Chr8:118185471..126635744 [GRCh37] Chr8:8q24.11-24.13 |
pathogenic |
NM_173851.3(SLC30A8):c.1080C>T (p.Asp360=) | single nucleotide variant | not provided [RCV003435609] | Chr8:117172651 [GRCh38] Chr8:118184890 [GRCh37] Chr8:8q24.11 |
likely benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not specified [RCV003986742] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 | copy number loss | not specified [RCV003986782] | Chr8:118071721..132774256 [GRCh37] Chr8:8q24.11-24.22 |
pathogenic |
NM_173851.3(SLC30A8):c.64C>T (p.Leu22=) | single nucleotide variant | SLC30A8-related condition [RCV003903882] | Chr8:117135391 [GRCh38] Chr8:118147630 [GRCh37] Chr8:8q24.11 |
likely benign |
NM_173851.3(SLC30A8):c.493C>T (p.Arg165Cys) | single nucleotide variant | SLC30A8-related condition [RCV003914157] | Chr8:117157765 [GRCh38] Chr8:118170004 [GRCh37] Chr8:8q24.11 |
benign |
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 | copy number gain | not provided [RCV003885521] | Chr8:113392581..146364022 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
NM_173851.3(SLC30A8):c.592C>T (p.Gln198Ter) | single nucleotide variant | Type 2 diabetes mellitus [RCV003988671] | Chr8:117161757 [GRCh38] Chr8:118173996 [GRCh37] Chr8:8q24.11 |
uncertain significance |
NM_173851.3(SLC30A8):c.974G>A (p.Arg325Gln) | single nucleotide variant | SLC30A8-related condition [RCV003921881] | Chr8:117172545 [GRCh38] Chr8:118184784 [GRCh37] Chr8:8q24.11 |
benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D8S1673 |
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D8S1201 |
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SHGC-147089 |
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SHGC-154540 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 1 | 2 | 2 | 5 | 2 | 1 | 1 | 1 | 6 | 6 | 6 | 1 | ||||
Low | 405 | 28 | 194 | 28 | 53 | 13 | 225 | 165 | 144 | 93 | 475 | 155 | 15 | 3 | 69 | 1 |
Below cutoff | 1827 | 1403 | 998 | 183 | 815 | 89 | 2032 | 1112 | 2730 | 157 | 626 | 1075 | 100 | 447 | 1356 | 2 |
RefSeq Acc Id: | ENST00000427715 ⟹ ENSP00000407505 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000456015 ⟹ ENSP00000415011 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518396 ⟹ ENSP00000485167 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518521 ⟹ ENSP00000485566 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000519688 ⟹ ENSP00000431069 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000520469 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000521035 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000521243 ⟹ ENSP00000428545 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000524274 ⟹ ENSP00000427760 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001172811 ⟹ NP_001166282 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001172813 ⟹ NP_001166284 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001172814 ⟹ NP_001166285 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001172815 ⟹ NP_001166286 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_173851 ⟹ NP_776250 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024447083 ⟹ XP_024302851 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_001166282 ⟸ NM_001172811 |
- Peptide Label: | isoform b |
- UniProtKB: | Q8IWU4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001166284 ⟸ NM_001172813 |
- Peptide Label: | isoform b |
- UniProtKB: | Q8IWU4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001166286 ⟸ NM_001172815 |
- Peptide Label: | isoform b |
- UniProtKB: | Q8IWU4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001166285 ⟸ NM_001172814 |
- Peptide Label: | isoform b |
- UniProtKB: | Q8IWU4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_776250 ⟸ NM_173851 |
- Peptide Label: | isoform a |
- UniProtKB: | B4DPE0 (UniProtKB/Swiss-Prot), A5YM39 (UniProtKB/Swiss-Prot), A0AVP9 (UniProtKB/Swiss-Prot), Q8TCL3 (UniProtKB/Swiss-Prot), Q8IWU4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024302851 ⟸ XM_024447083 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000485566 ⟸ ENST00000518521 |
RefSeq Acc Id: | ENSP00000485167 ⟸ ENST00000518396 |
RefSeq Acc Id: | ENSP00000431069 ⟸ ENST00000519688 |
RefSeq Acc Id: | ENSP00000407505 ⟸ ENST00000427715 |
RefSeq Acc Id: | ENSP00000415011 ⟸ ENST00000456015 |
RefSeq Acc Id: | ENSP00000428545 ⟸ ENST00000521243 |
RefSeq Acc Id: | ENSP00000427760 ⟸ ENST00000524274 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8IWU4-F1-model_v2 | AlphaFold | Q8IWU4 | 1-369 | view protein structure |
RGD ID: | 7214035 | ||||||||
Promoter ID: | EPDNEW_H12763 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC30A8_2 | ||||||||
Description: | solute carrier family 30 member 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12764 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7214037 | ||||||||
Promoter ID: | EPDNEW_H12764 | ||||||||
Type: | single initiation site | ||||||||
Name: | SLC30A8_1 | ||||||||
Description: | solute carrier family 30 member 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H12763 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:20303 | AgrOrtholog |
COSMIC | SLC30A8 | COSMIC |
Ensembl Genes | ENSG00000164756 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000427715 | ENTREZGENE |
ENST00000427715.2 | UniProtKB/Swiss-Prot | |
ENST00000456015 | ENTREZGENE | |
ENST00000456015.7 | UniProtKB/Swiss-Prot | |
ENST00000518396.5 | UniProtKB/TrEMBL | |
ENST00000518521.5 | UniProtKB/TrEMBL | |
ENST00000519688 | ENTREZGENE | |
ENST00000519688.5 | UniProtKB/Swiss-Prot | |
ENST00000521243 | ENTREZGENE | |
ENST00000521243.5 | UniProtKB/Swiss-Prot | |
ENST00000524274.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1510.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000164756 | GTEx |
HGNC ID | HGNC:20303 | ENTREZGENE |
Human Proteome Map | SLC30A8 | Human Proteome Map |
InterPro | Cation_efflux | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cation_efflux_CTD_sf | UniProtKB/Swiss-Prot | |
Cation_efflux_TMD_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:169026 | UniProtKB/Swiss-Prot |
NCBI Gene | 169026 | ENTREZGENE |
OMIM | 611145 | OMIM |
PANTHER | CATION EFFLUX PROTEIN/ ZINC TRANSPORTER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11562:SF37 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cation_efflux | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134915546 | PharmGKB |
Superfamily-SCOP | SSF160240 | UniProtKB/Swiss-Prot |
SSF161111 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A096LNR0_HUMAN | UniProtKB/TrEMBL |
A0A096LPF3_HUMAN | UniProtKB/TrEMBL | |
A0AVP9 | ENTREZGENE | |
A5YM39 | ENTREZGENE | |
B4DPE0 | ENTREZGENE | |
E5RG87_HUMAN | UniProtKB/TrEMBL | |
Q8IWU4 | ENTREZGENE | |
Q8TCL3 | ENTREZGENE | |
ZNT8_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A0AVP9 | UniProtKB/Swiss-Prot |
A5YM39 | UniProtKB/Swiss-Prot | |
B4DPE0 | UniProtKB/Swiss-Prot | |
Q8TCL3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-08 | SLC30A8 | solute carrier family 30 member 8 | solute carrier family 30 (zinc transporter), member 8 | Symbol and/or name change | 5135510 | APPROVED |