Gene Ontology Annotations Click to see Annotation Detail View
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Gene Ontology Annotations Click to see Annotation Detail View
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:15057824 | PMID:16368877 | PMID:20951346 | PMID:33845483 |
TMEM221 (Homo sapiens - human) |
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Tmem221 (Mus musculus - house mouse) |
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Tmem221 (Rattus norvegicus - Norway rat) |
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Tmem221 (Chinchilla lanigera - long-tailed chinchilla) |
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TMEM221 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TMEM221 (Canis lupus familiaris - dog) |
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Tmem221 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TMEM221 (Sus scrofa - pig) |
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TMEM221 (Chlorocebus sabaeus - green monkey) |
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Tmem221 (Heterocephalus glaber - naked mole-rat) |
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Variants in TMEM221
21 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 | copy number gain | See cases [RCV000050635] | Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11 |
pathogenic |
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 | copy number gain | See cases [RCV000052912] | Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11 |
pathogenic |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 | copy number gain | See cases [RCV000136696] | Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12 |
pathogenic|likely pathogenic |
GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1 | copy number loss | See cases [RCV000141610] | Chr19:17308207..17705382 [GRCh38] Chr19:17419016..17816191 [GRCh37] Chr19:17280016..17677191 [NCBI36] Chr19:19p13.11 |
uncertain significance |
GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1 | copy number loss | See cases [RCV000143571] | Chr19:17246895..17730147 [GRCh38] Chr19:17357704..17840956 [GRCh37] Chr19:17218704..17701956 [NCBI36] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3 | copy number gain | See cases [RCV000240346] | Chr19:17514059..17899363 [GRCh37] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 | copy number gain | not provided [RCV000752593] | Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11 |
pathogenic |
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 | copy number loss | not provided [RCV000487468] | Chr19:15970389..17893528 [GRCh37] Chr19:19p13.12-13.11 |
pathogenic |
GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1 | copy number loss | See cases [RCV000511154] | Chr19:17325373..17840956 [GRCh37] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001190844.2(TMEM221):c.529C>T (p.Arg177Trp) | single nucleotide variant | not specified [RCV004289745] | Chr19:17436805 [GRCh38] Chr19:17547614 [GRCh37] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001190844.2(TMEM221):c.83C>T (p.Ala28Val) | single nucleotide variant | not specified [RCV004305769] | Chr19:17448380 [GRCh38] Chr19:17559189 [GRCh37] Chr19:19p13.11 |
uncertain significance |
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 | copy number gain | not provided [RCV001259370] | Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12 |
pathogenic |
NM_001190844.2(TMEM221):c.436G>A (p.Glu146Lys) | single nucleotide variant | not specified [RCV004299052] | Chr19:17436898 [GRCh38] Chr19:17547707 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NC_000019.9:g.(?_17448421)_(17571678_?)dup | duplication | not provided [RCV004579786] | Chr19:17448421..17571678 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.374T>G (p.Leu125Arg) | single nucleotide variant | not specified [RCV004263186] | Chr19:17445231 [GRCh38] Chr19:17556040 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.148G>A (p.Gly50Ser) | single nucleotide variant | not specified [RCV004333780] | Chr19:17448315 [GRCh38] Chr19:17559124 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.819G>A (p.Met273Ile) | single nucleotide variant | not specified [RCV004309409] | Chr19:17436515 [GRCh38] Chr19:17547324 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.172G>C (p.Gly58Arg) | single nucleotide variant | not specified [RCV004078519] | Chr19:17448291 [GRCh38] Chr19:17559100 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.185A>C (p.Asp62Ala) | single nucleotide variant | not specified [RCV004092712] | Chr19:17448278 [GRCh38] Chr19:17559087 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.238G>C (p.Val80Leu) | single nucleotide variant | not specified [RCV004191403] | Chr19:17448225 [GRCh38] Chr19:17559034 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.542G>A (p.Arg181His) | single nucleotide variant | not specified [RCV004236872] | Chr19:17436792 [GRCh38] Chr19:17547601 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.158T>C (p.Leu53Pro) | single nucleotide variant | not specified [RCV004124829] | Chr19:17448305 [GRCh38] Chr19:17559114 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.298G>A (p.Ala100Thr) | single nucleotide variant | not specified [RCV004192599] | Chr19:17448165 [GRCh38] Chr19:17558974 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.649C>T (p.Arg217Trp) | single nucleotide variant | not provided [RCV003331446]|not specified [RCV004076609] | Chr19:17436685 [GRCh38] Chr19:17547494 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.852G>A (p.Met284Ile) | single nucleotide variant | not specified [RCV004071103] | Chr19:17436482 [GRCh38] Chr19:17547291 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.25G>A (p.Val9Met) | single nucleotide variant | not specified [RCV004077695] | Chr19:17448438 [GRCh38] Chr19:17559247 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.442G>A (p.Glu148Lys) | single nucleotide variant | not specified [RCV004254399] | Chr19:17436892 [GRCh38] Chr19:17547701 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.329G>T (p.Trp110Leu) | single nucleotide variant | not specified [RCV004347109] | Chr19:17445276 [GRCh38] Chr19:17556085 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.124C>G (p.Arg42Gly) | single nucleotide variant | not specified [RCV004341355] | Chr19:17448339 [GRCh38] Chr19:17559148 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.520C>T (p.Arg174Trp) | single nucleotide variant | not specified [RCV004340021] | Chr19:17436814 [GRCh38] Chr19:17547623 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.810G>A (p.Thr270=) | single nucleotide variant | not provided [RCV003423437] | Chr19:17436524 [GRCh38] Chr19:17547333 [GRCh37] Chr19:19p13.11 |
likely benign |
GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3 | copy number gain | not specified [RCV003986122] | Chr19:13970692..18139376 [GRCh37] Chr19:19p13.13-13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.785G>T (p.Gly262Val) | single nucleotide variant | not specified [RCV004467537] | Chr19:17436549 [GRCh38] Chr19:17547358 [GRCh37] Chr19:19p13.11 |
uncertain significance |
NM_001190844.2(TMEM221):c.814G>A (p.Glu272Lys) | single nucleotide variant | not specified [RCV004467538] | Chr19:17436520 [GRCh38] Chr19:17547329 [GRCh37] Chr19:19p13.11 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH78467 |
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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 | 1 | 40 | 4 | 1 | 2 | 43 | 1 | 173 | 4 | |||||||||
Low | 1603 | 874 | 1269 | 187 | 416 | 78 | 2526 | 789 | 3461 | 215 | 1173 | 1162 | 116 | 1 | 937 | 1297 | 2 | 2 |
Below cutoff | 783 | 2014 | 377 | 405 | 1247 | 354 | 1762 | 1348 | 215 | 179 | 89 | 390 | 57 | 266 | 1441 |
Ensembl Acc Id: | ENST00000341130 ⟹ ENSP00000342162 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000593461 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001190844 ⟹ NP_001177773 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011527603 ⟹ XP_011525905 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054319457 ⟹ XP_054175432 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001177773 | (Get FASTA) | NCBI Sequence Viewer |
XP_011525905 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054175432 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A6NGB7 | (Get FASTA) | NCBI Sequence Viewer |
EAW84606 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000342162 | ||
ENSP00000342162.5 |
RefSeq Acc Id: | NP_001177773 ⟸ NM_001190844 |
- UniProtKB: | A6NGB7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011525905 ⟸ XM_011527603 |
- Peptide Label: | isoform X1 |
- Sequence: |
Ensembl Acc Id: | ENSP00000342162 ⟸ ENST00000341130 |
RefSeq Acc Id: | XP_054175432 ⟸ XM_054319457 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A6NGB7-F1-model_v2 | AlphaFold | A6NGB7 | 1-291 | view protein structure |
RGD ID: | 6795173 | ||||||||
Promoter ID: | HG_KWN:29247 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3 | ||||||||
Transcripts: | ENST00000341130, UC002NGR.2 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:21943 | AgrOrtholog |
COSMIC | TMEM221 | COSMIC |
Ensembl Genes | ENSG00000188051 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000341130 | ENTREZGENE |
ENST00000341130.6 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000188051 | GTEx |
HGNC ID | HGNC:21943 | ENTREZGENE |
Human Proteome Map | TMEM221 | Human Proteome Map |
InterPro | Jiraiya | UniProtKB/Swiss-Prot |
TM221 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:100130519 | UniProtKB/Swiss-Prot |
NCBI Gene | 100130519 | ENTREZGENE |
PANTHER | TRANSMEMBRANE PROTEIN 221 | UniProtKB/Swiss-Prot |
TRANSMEMBRANE PROTEIN 221 | UniProtKB/Swiss-Prot | |
Pfam | Jiraiya | UniProtKB/Swiss-Prot |
PharmGKB | PA162406588 | PharmGKB |
UniProt | A6NGB7 | ENTREZGENE, UniProtKB/Swiss-Prot |