CD244 (CD244 molecule) - Rat Genome Database

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Gene: CD244 (CD244 molecule) Homo sapiens
Analyze
Symbol: CD244
Name: CD244 molecule
RGD ID: 736436
HGNC Page HGNC:18171
Description: Enables MHC class I protein binding activity. Involved in natural killer cell activation involved in immune response and positive regulation of cellular biosynthetic process. Located in external side of plasma membrane. Implicated in rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2B4; CD244 molecule, natural killer cell receptor 2B4; h2B4; NAIL; natural killer cell receptor 2B4; NK cell activation inducing ligand NAIL; NK cell activation-inducing ligand; NK cell type I receptor protein 2B4; NKR2B4; Nmrk; non mhc restricted killing associated; signaling lymphocytic activation molecule 4; SLAM family member 4; SLAMF4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,830,160 - 160,862,887 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,830,160 - 160,862,887 (-)EnsemblGRCh38hg38GRCh38
GRCh371160,799,950 - 160,832,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,066,574 - 159,099,269 (-)NCBINCBI36Build 36hg18NCBI36
Build 341157,613,023 - 157,645,718NCBI
Celera1133,868,617 - 133,900,871 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,156,082 - 132,188,997 (-)NCBIHuRef
CHM1_11162,195,333 - 162,228,071 (-)NCBICHM1_1
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# 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
Additional References at PubMed
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  


Genomics

Comparative Map Data
CD244
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,830,160 - 160,862,887 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,830,160 - 160,862,887 (-)EnsemblGRCh38hg38GRCh38
GRCh371160,799,950 - 160,832,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,066,574 - 159,099,269 (-)NCBINCBI36Build 36hg18NCBI36
Build 341157,613,023 - 157,645,718NCBI
Celera1133,868,617 - 133,900,871 (-)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,156,082 - 132,188,997 (-)NCBIHuRef
CHM1_11162,195,333 - 162,228,071 (-)NCBICHM1_1
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBIT2T-CHM13v2.0
Cd244a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391171,386,761 - 171,412,884 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1171,386,761 - 171,437,314 (+)EnsemblGRCm39 Ensembl
GRCm381171,558,718 - 171,585,316 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,559,193 - 171,609,746 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,489,324 - 173,515,447 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,395,874 - 173,420,233 (+)NCBIMGSCv36mm8
MGSCv361172,839,241 - 172,863,626 (+)NCBIMGSCv36mm8
Celera1174,415,055 - 174,442,954 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.52NCBI
Cd244
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81386,583,727 - 86,606,902 (+)NCBIGRCr8
mRatBN7.21384,051,339 - 84,082,864 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1384,052,493 - 84,074,492 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01389,997,710 - 90,004,364 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera1383,706,022 - 83,712,677 (+)NCBICelera
Cytogenetic Map13q24NCBI
Cd244
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546812,534,064 - 12,559,434 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546812,532,937 - 12,559,859 (-)NCBIChiLan1.0ChiLan1.0
CD244
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,983,026 - 89,018,767 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1188,723,340 - 88,759,051 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,186,906 - 136,219,669 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11140,109,626 - 140,142,212 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1140,110,808 - 140,123,065 (-)Ensemblpanpan1.1panPan2
CD244
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,495,649 - 21,522,656 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,495,720 - 21,517,043 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3821,569,007 - 21,595,662 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03821,612,462 - 21,640,210 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3821,612,683 - 21,640,215 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,500,470 - 21,527,135 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03821,914,237 - 21,940,917 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,324,134 - 22,350,862 (+)NCBIUU_Cfam_GSD_1.0
Cd244
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050586,937,563 - 6,965,410 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936903146,108 - 162,410 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD244
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl489,668,239 - 89,700,972 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1489,668,221 - 89,700,974 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2497,546,648 - 97,579,398 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD244
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1203,103,226 - 3,138,322 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660382,143,657 - 2,178,756 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd244
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624794447,584 - 472,778 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624794447,572 - 472,700 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CD244
22 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1148
Count of miRNA genes:694
Interacting mature miRNAs:765
Transcripts:ENST00000322302, ENST00000368032, ENST00000368033, ENST00000368034, ENST00000481677, ENST00000492063
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.

Markers in Region
D1S2348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,811,920 - 160,812,052UniSTSGRCh37
Build 361159,078,544 - 159,078,676RGDNCBI36
Celera1133,880,576 - 133,880,708RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,168,004 - 132,168,136UniSTS
Whitehead-RH Map1702.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-80670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,799,628 - 160,799,962UniSTSGRCh37
Build 361159,066,252 - 159,066,586RGDNCBI36
Celera1133,868,295 - 133,868,629RGD
Cytogenetic Map1q23.3UniSTS
HuRef1132,155,760 - 132,156,094UniSTS
TNG Radiation Hybrid Map172807.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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

Sequence

Nucleotide Sequences
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:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,831,271 - 160,862,700 (-)Ensembl
RefSeq Acc Id: ENST00000368033   ⟹   ENSP00000357012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,831,183 - 160,862,760 (-)Ensembl
RefSeq Acc Id: ENST00000368034   ⟹   ENSP00000357013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,830,160 - 160,862,887 (-)Ensembl
RefSeq Acc Id: ENST00000481677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,832,519 - 160,839,165 (-)Ensembl
RefSeq Acc Id: ENST00000492063   ⟹   ENSP00000432636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,831,271 - 160,862,700 (-)Ensembl
RefSeq Acc Id: NM_001166663   ⟹   NP_001160135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,830,160 - 160,862,887 (-)NCBI
GRCh371160,799,950 - 160,832,692 (-)ENTREZGENE
HuRef1132,156,082 - 132,188,997 (-)ENTREZGENE
CHM1_11162,195,333 - 162,228,071 (-)NCBI
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166664   ⟹   NP_001160136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,830,160 - 160,862,887 (-)NCBI
GRCh371160,799,950 - 160,832,692 (-)ENTREZGENE
HuRef1132,156,082 - 132,188,997 (-)ENTREZGENE
CHM1_11162,195,333 - 162,228,071 (-)NCBI
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016382   ⟹   NP_057466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,830,160 - 160,862,887 (-)NCBI
GRCh371160,799,950 - 160,832,692 (-)ENTREZGENE
Build 361159,066,574 - 159,099,269 (-)NCBI Archive
HuRef1132,156,082 - 132,188,997 (-)ENTREZGENE
CHM1_11162,195,333 - 162,228,071 (-)NCBI
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509621   ⟹   XP_011507923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,832,583 - 160,862,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509622   ⟹   XP_011507924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,832,519 - 160,862,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509623   ⟹   XP_011507925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,830,160 - 160,862,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422535   ⟹   XP_047278491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,830,160 - 160,862,887 (-)NCBI
RefSeq Acc Id: XM_054337007   ⟹   XP_054192982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBI
RefSeq Acc Id: XM_054337008   ⟹   XP_054192983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01159,969,622 - 159,999,910 (-)NCBI
RefSeq Acc Id: XM_054337009   ⟹   XP_054192984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01159,969,558 - 159,999,910 (-)NCBI
RefSeq Acc Id: XM_054337010   ⟹   XP_054192985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01159,967,199 - 159,999,910 (-)NCBI
Protein Sequences
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)
Protein Domains
Ig-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZW8-F1-model_v2 AlphaFold Q9BZW8 1-370 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
Build 361159,098,941 - 159,099,441 (-)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
GRCh381160,862,760 - 160,862,820EPDNEW
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:
Human AssemblyChrPosition (strand)Source
GRCh381160,862,887 - 160,862,947EPDNEW

Additional Information

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


Nomenclature History
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