Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18794858 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | rheumatoid arthritis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:18794858 | |
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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 |
PMID:3772297 | PMID:8376943 | PMID:9834056 | PMID:9841922 | PMID:10358138 | PMID:10359122 | PMID:10458320 | PMID:10556801 | PMID:10934222 | PMID:11003394 | PMID:11034353 | PMID:11163399 |
PMID:11342640 | PMID:11477068 | PMID:11489943 | PMID:11689425 | PMID:11714776 | PMID:11714782 | PMID:11774610 | PMID:11815622 | PMID:11917118 | PMID:11986947 | PMID:12077228 | PMID:12363025 |
PMID:12477932 | PMID:12515815 | PMID:15153464 | PMID:15169881 | PMID:15195244 | PMID:15340161 | PMID:15356108 | PMID:15489334 | PMID:15611233 | PMID:15677558 | PMID:15713798 | PMID:15841490 |
PMID:16002700 | PMID:16049493 | PMID:16081768 | PMID:16177062 | PMID:16410313 | PMID:16585556 | PMID:16621032 | PMID:16803907 | PMID:16920955 | PMID:16983070 | PMID:17111350 | PMID:17171759 |
PMID:17207965 | PMID:17213291 | PMID:17300754 | PMID:17599905 | PMID:17609265 | PMID:17981603 | PMID:18296487 | PMID:18479751 | PMID:18523281 | PMID:18794858 | PMID:19499526 | PMID:19586919 |
PMID:19638467 | PMID:19790054 | PMID:19904767 | PMID:20164429 | PMID:20237496 | PMID:20345977 | PMID:20379614 | PMID:20437071 | PMID:20813844 | PMID:21064032 | PMID:21102463 | PMID:21214542 |
PMID:21270395 | PMID:21439641 | PMID:21586211 | PMID:21606496 | PMID:21625589 | PMID:21873635 | PMID:22230401 | PMID:22438812 | PMID:23128233 | PMID:23225218 | PMID:23346089 | PMID:23360454 |
PMID:23913963 | PMID:24496997 | PMID:24505299 | PMID:24642916 | PMID:24659462 | PMID:24985396 | PMID:25545687 | PMID:25722295 | PMID:25824372 | PMID:26022178 | PMID:26150504 | PMID:26170387 |
PMID:26186194 | PMID:26221972 | PMID:26314831 | PMID:26439863 | PMID:26860368 | PMID:27221592 | PMID:27249817 | PMID:28126968 | PMID:28341747 | PMID:28386908 | PMID:28514442 | PMID:28593610 |
PMID:28768726 | PMID:30546369 | PMID:31045575 | PMID:32217758 | PMID:32796294 | PMID:33219153 | PMID:33401997 | PMID:33608984 | PMID:33961781 | PMID:34691037 | PMID:37516949 | PMID:37634081 |
CD244 (Homo sapiens - human) |
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Cd244a (Mus musculus - house mouse) |
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Cd244 (Rattus norvegicus - Norway rat) |
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Cd244 (Chinchilla lanigera - long-tailed chinchilla) |
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CD244 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CD244 (Canis lupus familiaris - dog) |
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Cd244 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CD244 (Sus scrofa - pig) |
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CD244 (Chlorocebus sabaeus - green monkey) |
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Cd244 (Heterocephalus glaber - naked mole-rat) |
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Variants in CD244
22 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_016382.4(CD244):c.834+526A>G | single nucleotide variant | Rheumatoid arthritis [RCV000005173] | Chr1:160837925 [GRCh38] Chr1:160807715 [GRCh37] Chr1:1q23.3 |
risk factor |
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 | copy number loss | See cases [RCV000051172] | Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1 |
pathogenic |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 | copy number gain | See cases [RCV000051854] | Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] | Chr1:160789732..168617494 [GRCh38] Chr1:160759522..168586732 [GRCh37] Chr1:159026146..166853356 [NCBI36] Chr1:1q23.3-24.2 |
pathogenic |
NM_016382.3(CD244):c.978G>A (p.Arg326=) | single nucleotide variant | Malignant melanoma [RCV000064264] | Chr1:160832558 [GRCh38] Chr1:160802348 [GRCh37] Chr1:159068972 [NCBI36] Chr1:1q23.3 |
not provided |
NM_016382.4(CD244):c.971G>A (p.Arg324Lys) | single nucleotide variant | Malignant tumor of prostate [RCV000149080] | Chr1:160832565 [GRCh38] Chr1:160802355 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) | copy number loss | not provided [RCV000767779] | Chr1:160369890..175796325 [GRCh37] Chr1:1q23.2-25.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 | copy number loss | not provided [RCV000736717] | Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2 |
pathogenic |
GRCh37/hg19 1q23.3(chr1:160779495-161116022)x3 | copy number gain | not provided [RCV000749204] | Chr1:160779495..161116022 [GRCh37] Chr1:1q23.3 |
benign |
NM_016382.4(CD244):c.39C>T (p.Leu13=) | single nucleotide variant | not provided [RCV000961314] | Chr1:160862639 [GRCh38] Chr1:160832429 [GRCh37] Chr1:1q23.3 |
benign |
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 | copy number gain | not provided [RCV000846649] | Chr1:159808188..161011163 [GRCh37] Chr1:1q23.2-23.3 |
uncertain significance |
NM_016382.4(CD244):c.685A>G (p.Ile229Val) | single nucleotide variant | not provided [RCV000966766] | Chr1:160839020 [GRCh38] Chr1:160808810 [GRCh37] Chr1:1q23.3 |
benign |
NC_000001.10:g.(?_160786670)_(161332233_?)dup | duplication | Gastrointestinal stromal tumor [RCV000792787] | Chr1:160816880..161362443 [GRCh38] Chr1:160786670..161332233 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 | copy number gain | not provided [RCV000849025] | Chr1:160744174..162583871 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 | copy number loss | not provided [RCV000848773] | Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2 |
pathogenic |
NM_016382.4(CD244):c.*578T>C | single nucleotide variant | not provided [RCV001620239] | Chr1:160830769 [GRCh38] Chr1:160800559 [GRCh37] Chr1:1q23.3 |
benign |
NC_000001.11:g.(?_160816880)_(161362518_?)dup | duplication | Gastrointestinal stromal tumor [RCV001031279] | Chr1:160786670..161332308 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) | copy number loss | not specified [RCV002053658] | Chr1:160417296..166197042 [GRCh37] Chr1:1q23.2-24.1 |
pathogenic |
NC_000001.10:g.(?_158581054)_(162750036_?)dup | duplication | Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] | Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
NM_016382.4(CD244):c.417G>T (p.Lys139Asn) | single nucleotide variant | Inborn genetic diseases [RCV002906735] | Chr1:160841448 [GRCh38] Chr1:160811238 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.380-3C>T | single nucleotide variant | Inborn genetic diseases [RCV002906115] | Chr1:160841488 [GRCh38] Chr1:160811278 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.380-4C>T | single nucleotide variant | Inborn genetic diseases [RCV002906114] | Chr1:160841489 [GRCh38] Chr1:160811279 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3 | copy number gain | not provided [RCV002475740] | Chr1:160778879..161190622 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.132A>G (p.Ile44Met) | single nucleotide variant | Inborn genetic diseases [RCV002762301] | Chr1:160841831 [GRCh38] Chr1:160811621 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.707T>C (p.Phe236Ser) | single nucleotide variant | Inborn genetic diseases [RCV002784406] | Chr1:160838998 [GRCh38] Chr1:160808788 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.223C>A (p.Pro75Thr) | single nucleotide variant | Inborn genetic diseases [RCV002706869] | Chr1:160841740 [GRCh38] Chr1:160811530 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016382.4(CD244):c.654G>T (p.Gln218His) | single nucleotide variant | Inborn genetic diseases [RCV002645227] | Chr1:160841211 [GRCh38] Chr1:160811001 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016382.4(CD244):c.248T>A (p.Phe83Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002673967] | Chr1:160841715 [GRCh38] Chr1:160811505 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.1080C>A (p.Asn360Lys) | single nucleotide variant | Inborn genetic diseases [RCV002878674] | Chr1:160831365 [GRCh38] Chr1:160801155 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.651T>G (p.His217Gln) | single nucleotide variant | Inborn genetic diseases [RCV002961671] | Chr1:160841214 [GRCh38] Chr1:160811004 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.535T>C (p.Tyr179His) | single nucleotide variant | Inborn genetic diseases [RCV002724840] | Chr1:160841330 [GRCh38] Chr1:160811120 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016382.4(CD244):c.611G>A (p.Ser204Asn) | single nucleotide variant | Inborn genetic diseases [RCV003277982] | Chr1:160841254 [GRCh38] Chr1:160811044 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016382.4(CD244):c.968C>A (p.Ser323Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003203547] | Chr1:160832568 [GRCh38] Chr1:160802358 [GRCh37] Chr1:1q23.3 |
uncertain significance |
NM_016382.4(CD244):c.793A>G (p.Ile265Val) | single nucleotide variant | Inborn genetic diseases [RCV003214369] | Chr1:160838492 [GRCh38] Chr1:160808282 [GRCh37] Chr1:1q23.3 |
likely benign |
NM_016382.4(CD244):c.904C>A (p.Pro302Thr) | single nucleotide variant | Inborn genetic diseases [RCV003372036] | Chr1:160834107 [GRCh38] Chr1:160803897 [GRCh37] Chr1:1q23.3 |
uncertain significance |
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 | copy number loss | not provided [RCV003483944] | Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3 |
likely pathogenic |
GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1 | copy number loss | not provided [RCV003483955] | Chr1:160368624..160871262 [GRCh37] Chr1:1q23.2-23.3 |
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. |
D1S2348 |
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SHGC-80670 |
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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 | 4 | 469 | 4 | 3 | 1036 | 3 | 3 | 2 | 5 | 13 | 34 | 29 | 2 | |||
Low | 685 | 1139 | 770 | 430 | 782 | 374 | 1020 | 77 | 539 | 197 | 989 | 962 | 56 | 791 | 538 | 1 |
Below cutoff | 1614 | 1338 | 911 | 173 | 76 | 68 | 3026 | 1941 | 2899 | 168 | 345 | 439 | 108 | 382 | 2141 | 1 |
RefSeq Transcripts | NG_015991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001166663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001166664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_016382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047422535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001737229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF105261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF107761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF117711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF145782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF242540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF297616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF363452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ245375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ245376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ245377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL354714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS173034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000322302 ⟹ ENSP00000313619 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000368033 ⟹ ENSP00000357012 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000368034 ⟹ ENSP00000357013 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481677 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000492063 ⟹ ENSP00000432636 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001166663 ⟹ NP_001160135 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001166664 ⟹ NP_001160136 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_016382 ⟹ NP_057466 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509621 ⟹ XP_011507923 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509622 ⟹ XP_011507924 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509623 ⟹ XP_011507925 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047422535 ⟹ XP_047278491 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337007 ⟹ XP_054192982 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337008 ⟹ XP_054192983 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337009 ⟹ XP_054192984 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337010 ⟹ XP_054192985 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001160135 | (Get FASTA) | NCBI Sequence Viewer |
NP_001160136 | (Get FASTA) | NCBI Sequence Viewer | |
NP_057466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011507923 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011507924 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011507925 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047278491 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192982 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192983 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192984 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054192985 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD32538 | (Get FASTA) | NCBI Sequence Viewer |
AAD37838 | (Get FASTA) | NCBI Sequence Viewer | |
AAD38951 | (Get FASTA) | NCBI Sequence Viewer | |
AAF28833 | (Get FASTA) | NCBI Sequence Viewer | |
AAH28073 | (Get FASTA) | NCBI Sequence Viewer | |
AAH53985 | (Get FASTA) | NCBI Sequence Viewer | |
AAK00233 | (Get FASTA) | NCBI Sequence Viewer | |
AAK50015 | (Get FASTA) | NCBI Sequence Viewer | |
AAK57926 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36017 | (Get FASTA) | NCBI Sequence Viewer | |
BAG58732 | (Get FASTA) | NCBI Sequence Viewer | |
CAC00647 | (Get FASTA) | NCBI Sequence Viewer | |
CAC00648 | (Get FASTA) | NCBI Sequence Viewer | |
CAC00649 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ33698 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52691 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52692 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52693 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52694 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000313619 | ||
ENSP00000313619.7 | |||
ENSP00000357012 | |||
ENSP00000357012.3 | |||
ENSP00000357013 | |||
ENSP00000357013.4 | |||
ENSP00000432636 | |||
ENSP00000432636.1 | |||
GenBank Protein | Q9BZW8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001160136 ⟸ NM_001166664 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | Q9BZW8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_057466 ⟸ NM_016382 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001160135 ⟸ NM_001166663 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q9NQD3 (UniProtKB/Swiss-Prot), Q9NQD2 (UniProtKB/Swiss-Prot), Q96T47 (UniProtKB/Swiss-Prot), Q5VYI7 (UniProtKB/Swiss-Prot), Q5VYI6 (UniProtKB/Swiss-Prot), Q5VYI2 (UniProtKB/Swiss-Prot), Q9Y288 (UniProtKB/Swiss-Prot), Q9BZW8 (UniProtKB/Swiss-Prot), B2R820 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011507925 ⟸ XM_011509623 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011507924 ⟸ XM_011509622 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011507923 ⟸ XM_011509621 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000432636 ⟸ ENST00000492063 |
RefSeq Acc Id: | ENSP00000313619 ⟸ ENST00000322302 |
RefSeq Acc Id: | ENSP00000357012 ⟸ ENST00000368033 |
RefSeq Acc Id: | ENSP00000357013 ⟸ ENST00000368034 |
RefSeq Acc Id: | XP_047278491 ⟸ XM_047422535 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054192985 ⟸ XM_054337010 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054192982 ⟸ XM_054337007 |
- Peptide Label: | isoform X1 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054192984 ⟸ XM_054337009 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054192983 ⟸ XM_054337008 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B2R820 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BZW8-F1-model_v2 | AlphaFold | Q9BZW8 | 1-370 | view protein structure |
RGD ID: | 6785209 | ||||||||
Promoter ID: | HG_KWN:5790 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000368032, NM_001166663, NM_001166664, NM_016382, UC009WTP.1 | ||||||||
Position: |
|
RGD ID: | 6857810 | ||||||||
Promoter ID: | EPDNEW_H2070 | ||||||||
Type: | initiation region | ||||||||
Name: | CD244_2 | ||||||||
Description: | CD244 molecule | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2071 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6857812 | ||||||||
Promoter ID: | EPDNEW_H2071 | ||||||||
Type: | initiation region | ||||||||
Name: | CD244_1 | ||||||||
Description: | CD244 molecule | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2070 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18171 | AgrOrtholog |
COSMIC | CD244 | COSMIC |
Ensembl Genes | ENSG00000122223 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000322302 | ENTREZGENE |
ENST00000322302.7 | UniProtKB/Swiss-Prot | |
ENST00000368033 | ENTREZGENE | |
ENST00000368033.7 | UniProtKB/Swiss-Prot | |
ENST00000368034 | ENTREZGENE | |
ENST00000368034.9 | UniProtKB/Swiss-Prot | |
ENST00000492063 | ENTREZGENE | |
ENST00000492063.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000122223 | GTEx |
HGNC ID | HGNC:18171 | ENTREZGENE |
Human Proteome Map | CD244 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NK_rcpt_2B4_Ig_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:51744 | UniProtKB/Swiss-Prot |
NCBI Gene | 51744 | ENTREZGENE |
OMIM | 605554 | OMIM |
PANTHER | NATURAL KILLER CELL RECEPTOR 2B4 | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
SIGNALING LYMPHOCYTIC ACTIVATION MOLECULE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Receptor_2B4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134905192 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Immunoglobulin | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
UniProt | B2R820 | ENTREZGENE, UniProtKB/TrEMBL |
CD244_HUMAN | UniProtKB/Swiss-Prot | |
Q5VYI2 | ENTREZGENE | |
Q5VYI6 | ENTREZGENE | |
Q5VYI7 | ENTREZGENE | |
Q96T47 | ENTREZGENE | |
Q9BZW8 | ENTREZGENE | |
Q9NQD2 | ENTREZGENE | |
Q9NQD3 | ENTREZGENE | |
Q9Y288 | ENTREZGENE | |
UniProt Secondary | Q5VYI2 | UniProtKB/Swiss-Prot |
Q5VYI6 | UniProtKB/Swiss-Prot | |
Q5VYI7 | UniProtKB/Swiss-Prot | |
Q96T47 | UniProtKB/Swiss-Prot | |
Q9NQD2 | UniProtKB/Swiss-Prot | |
Q9NQD3 | UniProtKB/Swiss-Prot | |
Q9Y288 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-12 | CD244 | CD244 molecule | CD244 molecule, natural killer cell receptor 2B4 | Symbol and/or name change | 5135510 | APPROVED |