Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC35B2 | Human | hypomyelinating leukodystrophy 26 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC35B2 | Human | hypomyelinating leukodystrophy 26 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:12477932 | PMID:12716889 | PMID:12761501 | PMID:14574404 | PMID:15146197 | PMID:15489334 | PMID:16303743 | PMID:16344560 | PMID:17081983 | PMID:19773279 | PMID:20978009 |
PMID:21873635 | PMID:22810586 | PMID:23464991 | PMID:24576181 | PMID:24623722 | PMID:25124574 | PMID:26186194 | PMID:26496610 | PMID:28514442 | PMID:31073040 | PMID:31871319 | PMID:32296183 |
PMID:32694731 | PMID:32807901 | PMID:33951064 | PMID:33961781 | PMID:34011540 | PMID:34079125 | PMID:34349018 | PMID:35271311 | PMID:35325049 | PMID:35420441 | PMID:35501530 | PMID:35559673 |
PMID:35696571 | PMID:35944360 | PMID:36168628 | PMID:36180527 | PMID:36215168 | PMID:37774976 |
SLC35B2 (Homo sapiens - human) |
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Slc35b2 (Mus musculus - house mouse) |
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Slc35b2 (Rattus norvegicus - Norway rat) |
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Slc35b2 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC35B2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC35B2 (Canis lupus familiaris - dog) |
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Slc35b2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC35B2 (Sus scrofa - pig) |
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SLC35B2 (Chlorocebus sabaeus - green monkey) |
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Slc35b2 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC35B2
34 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 | copy number loss | See cases [RCV000051011] | Chr6:42368558..44590544 [GRCh38] Chr6:42336296..44558281 [GRCh37] Chr6:42444274..44666259 [NCBI36] Chr6:6p21.1 |
pathogenic |
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 | copy number loss | See cases [RCV000052181] | Chr6:37777369..45653843 [GRCh38] Chr6:37745145..45621580 [GRCh37] Chr6:37853123..45729558 [NCBI36] Chr6:6p21.2-21.1 |
pathogenic |
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 | copy number loss | See cases [RCV000052182] | Chr6:41638061..46512949 [GRCh38] Chr6:41605799..46480686 [GRCh37] Chr6:41713777..46588645 [NCBI36] Chr6:6p21.1-12.3 |
pathogenic |
GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3 | copy number gain | See cases [RCV000140726] | Chr6:43656888..44382430 [GRCh38] Chr6:43624625..44350167 [GRCh37] Chr6:43732603..44458145 [NCBI36] Chr6:6p21.1 |
likely benign|uncertain significance |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 | copy number loss | See cases [RCV000446897] | Chr6:43636308..50947320 [GRCh37] Chr6:6p21.1-12.3 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_178148.4(SLC35B2):c.548T>C (p.Met183Thr) | single nucleotide variant | not specified [RCV004333057] | Chr6:44255457 [GRCh38] Chr6:44223194 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1072A>G (p.Thr358Ala) | single nucleotide variant | not specified [RCV004320720] | Chr6:44254933 [GRCh38] Chr6:44222670 [GRCh37] Chr6:6p21.1 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_178148.4(SLC35B2):c.450G>A (p.Thr150=) | single nucleotide variant | not provided [RCV000970142] | Chr6:44255555 [GRCh38] Chr6:44223292 [GRCh37] Chr6:6p21.1 |
benign |
NM_178148.4(SLC35B2):c.1024C>G (p.Leu342Val) | single nucleotide variant | not provided [RCV000963032] | Chr6:44254981 [GRCh38] Chr6:44222718 [GRCh37] Chr6:6p21.1 |
benign |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_178148.4(SLC35B2):c.442C>T (p.Arg148Cys) | single nucleotide variant | not specified [RCV004316336] | Chr6:44255563 [GRCh38] Chr6:44223300 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del) | deletion | Leukodystrophy, hypomyelinating, 26, with chondrodysplasia [RCV003152620]|Primary bone dysplasia with multiple joint dislocations [RCV001264615] | Chr6:44254785..44254787 [GRCh38] Chr6:44222522..44222524 [GRCh37] Chr6:6p21.1 |
pathogenic |
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) | copy number loss | not specified [RCV002053568] | Chr6:43636308..50947320 [GRCh37] Chr6:6p21.1-12.3 |
pathogenic |
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 | copy number gain | not provided [RCV002221457] | Chr6:43636308..64947206 [GRCh37] Chr6:6p21.1-q12 |
likely pathogenic |
NM_178148.4(SLC35B2):c.1231G>A (p.Ala411Thr) | single nucleotide variant | not specified [RCV004333163] | Chr6:44254774 [GRCh38] Chr6:44222511 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.495T>G (p.Ile165Met) | single nucleotide variant | not specified [RCV004189966] | Chr6:44255510 [GRCh38] Chr6:44223247 [GRCh37] Chr6:6p21.1 |
likely benign |
NM_178148.4(SLC35B2):c.619G>A (p.Val207Ile) | single nucleotide variant | not specified [RCV004214393] | Chr6:44255386 [GRCh38] Chr6:44223123 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1241G>C (p.Arg414Pro) | single nucleotide variant | not specified [RCV004084975] | Chr6:44254764 [GRCh38] Chr6:44222501 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.563T>C (p.Phe188Ser) | single nucleotide variant | not specified [RCV004173372] | Chr6:44255442 [GRCh38] Chr6:44223179 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.434C>T (p.Pro145Leu) | single nucleotide variant | not specified [RCV004222458] | Chr6:44255571 [GRCh38] Chr6:44223308 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1083G>C (p.Gln361His) | single nucleotide variant | not specified [RCV004239059] | Chr6:44254922 [GRCh38] Chr6:44222659 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1199T>C (p.Val400Ala) | single nucleotide variant | not specified [RCV004235642] | Chr6:44254806 [GRCh38] Chr6:44222543 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1278G>C (p.Glu426Asp) | single nucleotide variant | not specified [RCV004192989] | Chr6:44254727 [GRCh38] Chr6:44222464 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu) | single nucleotide variant | not specified [RCV004150462] | Chr6:44255109 [GRCh38] Chr6:44222846 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.839C>T (p.Ala280Val) | single nucleotide variant | not specified [RCV004205453] | Chr6:44255166 [GRCh38] Chr6:44222903 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1235G>A (p.Arg412Gln) | single nucleotide variant | not specified [RCV004096916] | Chr6:44254770 [GRCh38] Chr6:44222507 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.596G>A (p.Cys199Tyr) | single nucleotide variant | not specified [RCV004155056] | Chr6:44255409 [GRCh38] Chr6:44223146 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1057C>A (p.Leu353Ile) | single nucleotide variant | not specified [RCV004069747] | Chr6:44254948 [GRCh38] Chr6:44222685 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.425C>T (p.Ala142Val) | single nucleotide variant | not specified [RCV004101496] | Chr6:44255580 [GRCh38] Chr6:44223317 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1211C>G (p.Ala404Gly) | single nucleotide variant | not specified [RCV004128834] | Chr6:44254794 [GRCh38] Chr6:44222531 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.80C>A (p.Pro27His) | single nucleotide variant | not specified [RCV004075876] | Chr6:44256810 [GRCh38] Chr6:44224547 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.545C>A (p.Pro182His) | single nucleotide variant | not specified [RCV004101497] | Chr6:44255460 [GRCh38] Chr6:44223197 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.998G>A (p.Arg333Gln) | single nucleotide variant | not specified [RCV004188726] | Chr6:44255007 [GRCh38] Chr6:44222744 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.706G>A (p.Glu236Lys) | single nucleotide variant | not specified [RCV004162869] | Chr6:44255299 [GRCh38] Chr6:44223036 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.785G>C (p.Arg262Pro) | single nucleotide variant | not specified [RCV004217774] | Chr6:44255220 [GRCh38] Chr6:44222957 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.784C>T (p.Arg262Cys) | single nucleotide variant | not specified [RCV004173928] | Chr6:44255221 [GRCh38] Chr6:44222958 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1224_1225del (p.Arg408fs) | microsatellite | Leukodystrophy, hypomyelinating, 26, with chondrodysplasia [RCV003152568] | Chr6:44254780..44254781 [GRCh38] Chr6:44222517..44222518 [GRCh37] Chr6:6p21.1 |
pathogenic |
NM_178148.4(SLC35B2):c.554G>A (p.Arg185Gln) | single nucleotide variant | not specified [RCV004258914] | Chr6:44255451 [GRCh38] Chr6:44223188 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.791C>T (p.Ser264Phe) | single nucleotide variant | not specified [RCV004280527] | Chr6:44255214 [GRCh38] Chr6:44222951 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.645C>T (p.Ala215=) | single nucleotide variant | not provided [RCV003457139] | Chr6:44255360 [GRCh38] Chr6:44223097 [GRCh37] Chr6:6p21.1 |
likely benign |
GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3 | copy number gain | not specified [RCV003986637] | Chr6:44185578..44552951 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1096G>A (p.Val366Ile) | single nucleotide variant | not specified [RCV004459222] | Chr6:44254909 [GRCh38] Chr6:44222646 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1252C>T (p.Arg418Trp) | single nucleotide variant | not specified [RCV004459224] | Chr6:44254753 [GRCh38] Chr6:44222490 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.635A>T (p.Gln212Leu) | single nucleotide variant | not specified [RCV004459226] | Chr6:44255370 [GRCh38] Chr6:44223107 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.703T>C (p.Tyr235His) | single nucleotide variant | not specified [RCV004459227] | Chr6:44255302 [GRCh38] Chr6:44223039 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1085T>A (p.Phe362Tyr) | single nucleotide variant | not specified [RCV004459221] | Chr6:44254920 [GRCh38] Chr6:44222657 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.1117C>T (p.Leu373Phe) | single nucleotide variant | not specified [RCV004459223] | Chr6:44254888 [GRCh38] Chr6:44222625 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.287C>G (p.Pro96Arg) | single nucleotide variant | not specified [RCV004354489] | Chr6:44256415 [GRCh38] Chr6:44224152 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.748G>A (p.Val250Ile) | single nucleotide variant | not specified [RCV004341202] | Chr6:44255257 [GRCh38] Chr6:44222994 [GRCh37] Chr6:6p21.1 |
uncertain significance |
NM_178148.4(SLC35B2):c.677T>C (p.Met226Thr) | single nucleotide variant | not specified [RCV004353684] | Chr6:44255328 [GRCh38] Chr6:44223065 [GRCh37] Chr6:6p21.1 |
uncertain significance |
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. |
D6S1157E |
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A006I17 |
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GDB:451694 |
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WI-21703 |
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SLC35B2_8181 |
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RH36212 |
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SHGC-32848 |
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RH65822 |
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RH15775 |
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RH41920 |
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NFKBIE_3084 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2436 | 2338 | 1706 | 608 | 1469 | 449 | 4270 | 1963 | 3353 | 411 | 1457 | 1612 | 175 | 1 | 1202 | 2702 | 6 | 2 |
Low | 3 | 653 | 20 | 16 | 482 | 16 | 87 | 234 | 381 | 8 | 3 | 1 | 2 | 86 | ||||
Below cutoff |
RefSeq Transcripts | NG_028283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001286509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_178148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB097021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB097039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB106538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK223028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY491520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC016839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC024288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI769501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN370928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA370522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA383304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA424392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA817588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB010939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY044970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000393810 ⟹ ENSP00000377399 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000393812 ⟹ ENSP00000377401 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000537814 ⟹ ENSP00000440340 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000538577 ⟹ ENSP00000443845 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000615337 ⟹ ENSP00000480681 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000619636 ⟹ ENSP00000483181 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001286509 ⟹ NP_001273438 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001286510 ⟹ NP_001273439 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286511 ⟹ NP_001273440 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286512 ⟹ NP_001273441 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286513 ⟹ NP_001273442 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286517 ⟹ NP_001273446 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286519 ⟹ NP_001273448 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286520 ⟹ NP_001273449 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_178148 ⟹ NP_835361 | ||||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001273438 | (Get FASTA) | NCBI Sequence Viewer |
NP_001273439 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273440 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273441 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273442 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273446 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273448 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001273449 | (Get FASTA) | NCBI Sequence Viewer | |
NP_835361 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH16839 | (Get FASTA) | NCBI Sequence Viewer |
AAH24288 | (Get FASTA) | NCBI Sequence Viewer | |
AAS79661 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11631 | (Get FASTA) | NCBI Sequence Viewer | |
BAC77374 | (Get FASTA) | NCBI Sequence Viewer | |
BAC77392 | (Get FASTA) | NCBI Sequence Viewer | |
BAC79117 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96748 | (Get FASTA) | NCBI Sequence Viewer | |
BAG53951 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56783 | (Get FASTA) | NCBI Sequence Viewer | |
BAG56860 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04261 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000377399.1 | ||
ENSP00000377401 | |||
ENSP00000377401.3 | |||
ENSP00000440340 | |||
ENSP00000440340.1 | |||
ENSP00000443845 | |||
ENSP00000443845.1 | |||
ENSP00000480681 | |||
ENSP00000480681.1 | |||
GenBank Protein | Q8TB61 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_835361 ⟸ NM_178148 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q8NBK6 (UniProtKB/Swiss-Prot), Q7Z2G3 (UniProtKB/Swiss-Prot), Q5T9W2 (UniProtKB/Swiss-Prot), Q5T9W1 (UniProtKB/Swiss-Prot), Q53GA3 (UniProtKB/Swiss-Prot), Q2VY06 (UniProtKB/Swiss-Prot), F5H7Y9 (UniProtKB/Swiss-Prot), B4DDU9 (UniProtKB/Swiss-Prot), B4DDM2 (UniProtKB/Swiss-Prot), Q96AR6 (UniProtKB/Swiss-Prot), Q8TB61 (UniProtKB/Swiss-Prot), B3KVY9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001273440 ⟸ NM_001286511 |
- Peptide Label: | isoform c |
- UniProtKB: | B3KVY9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001273448 ⟸ NM_001286519 |
- Peptide Label: | isoform f |
- UniProtKB: | Q8TB61 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001273446 ⟸ NM_001286517 |
- Peptide Label: | isoform e |
- UniProtKB: | Q8TB61 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001273442 ⟸ NM_001286513 |
- Peptide Label: | isoform d precursor |
- UniProtKB: | Q8TB61 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001273438 ⟸ NM_001286509 |
- Peptide Label: | isoform b |
- UniProtKB: | B3KVY9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001273449 ⟸ NM_001286520 |
- Peptide Label: | isoform f |
- UniProtKB: | Q8TB61 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001273439 ⟸ NM_001286510 |
- Peptide Label: | isoform b |
- UniProtKB: | B3KVY9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001273441 ⟸ NM_001286512 |
- Peptide Label: | isoform c |
- UniProtKB: | B3KVY9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000480681 ⟸ ENST00000615337 |
RefSeq Acc Id: | ENSP00000440340 ⟸ ENST00000537814 |
RefSeq Acc Id: | ENSP00000443845 ⟸ ENST00000538577 |
RefSeq Acc Id: | ENSP00000377399 ⟸ ENST00000393810 |
RefSeq Acc Id: | ENSP00000377401 ⟸ ENST00000393812 |
RefSeq Acc Id: | ENSP00000483181 ⟸ ENST00000619636 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TB61-F1-model_v2 | AlphaFold | Q8TB61 | 1-432 | view protein structure |
RGD ID: | 7208203 | ||||||||
Promoter ID: | EPDNEW_H9847 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC35B2_2 | ||||||||
Description: | solute carrier family 35 member B2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H9848 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7208205 | ||||||||
Promoter ID: | EPDNEW_H9848 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC35B2_1 | ||||||||
Description: | solute carrier family 35 member B2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H9847 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6814776 | ||||||||
Promoter ID: | HG_XEF:6850 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | NM_079665, NM_205635 | ||||||||
Position: |
|
RGD ID: | 6804083 | ||||||||
Promoter ID: | HG_KWN:53704 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000341553, ENST00000393810, OTTHUMT00000040723, OTTHUMT00000040724 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:16872 | AgrOrtholog |
COSMIC | SLC35B2 | COSMIC |
Ensembl Genes | ENSG00000157593 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000393810.5 | UniProtKB/TrEMBL |
ENST00000393812 | ENTREZGENE | |
ENST00000393812.4 | UniProtKB/Swiss-Prot | |
ENST00000495706 | ENTREZGENE | |
ENST00000537814 | ENTREZGENE | |
ENST00000537814.2 | UniProtKB/Swiss-Prot | |
ENST00000538577 | ENTREZGENE | |
ENST00000538577.5 | UniProtKB/Swiss-Prot | |
ENST00000615337 | ENTREZGENE | |
ENST00000615337.4 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000157593 | GTEx |
HGNC ID | HGNC:16872 | ENTREZGENE |
Human Proteome Map | SLC35B2 | Human Proteome Map |
InterPro | SCL35B1-4/HUT1 | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
KEGG Report | hsa:347734 | UniProtKB/Swiss-Prot |
NCBI Gene | 347734 | ENTREZGENE |
OMIM | 610788 | OMIM |
PANTHER | ADENOSINE 3'-PHOSPHO 5'-PHOSPHOSULFATE TRANSPORTER 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10778 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | UAA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134927864 | PharmGKB |
Superfamily-SCOP | Multidrug resistance efflux transporter EmrE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0A0MS46_HUMAN | UniProtKB/TrEMBL |
B3KVY9 | ENTREZGENE, UniProtKB/TrEMBL | |
B4DDM2 | ENTREZGENE | |
B4DDU9 | ENTREZGENE | |
F5H7Y9 | ENTREZGENE | |
Q2VY06 | ENTREZGENE | |
Q53GA3 | ENTREZGENE | |
Q5T9W1 | ENTREZGENE | |
Q5T9W2 | ENTREZGENE | |
Q7Z2G3 | ENTREZGENE | |
Q8NBK6 | ENTREZGENE | |
Q8TB61 | ENTREZGENE | |
Q96AR6 | ENTREZGENE | |
S35B2_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B4DDM2 | UniProtKB/Swiss-Prot |
B4DDU9 | UniProtKB/Swiss-Prot | |
F5H7Y9 | UniProtKB/Swiss-Prot | |
Q2VY06 | UniProtKB/Swiss-Prot | |
Q53GA3 | UniProtKB/Swiss-Prot | |
Q5T9W1 | UniProtKB/Swiss-Prot | |
Q5T9W2 | UniProtKB/Swiss-Prot | |
Q7Z2G3 | UniProtKB/Swiss-Prot | |
Q8NBK6 | UniProtKB/Swiss-Prot | |
Q96AR6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-23 | SLC35B2 | solute carrier family 35 member B2 | SLC35B2 | solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 | Symbol and/or name change | 5135510 | APPROVED |
2013-07-23 | SLC35B2 | solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 | SLC35B2 | solute carrier family 35, member B2 | Symbol and/or name change | 5135510 | APPROVED |