XKR4 (XK related 4) - Rat Genome Database

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Gene: XKR4 (XK related 4) Homo sapiens
Analyze
Symbol: XKR4
Name: XK related 4
RGD ID: 1606184
HGNC Page HGNC:29394
Description: Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hXKR4; KIAA1889; X Kell blood group precursor-related family, member 4; X-linked Kx blood group related 4; XK, Kell blood group complex subunit-related family, member 4; XK-related protein 4; XRG4
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
GRCh38855,102,028 - 55,542,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl855,102,028 - 55,542,054 (+)EnsemblGRCh38hg38GRCh38
GRCh37856,014,588 - 56,454,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36856,177,571 - 56,601,268 (+)NCBINCBI36Build 36hg18NCBI36
Celera852,005,765 - 52,428,770 (+)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef851,483,309 - 51,906,398 (+)NCBIHuRef
CHM1_1856,066,642 - 56,490,559 (+)NCBICHM1_1
T2T-CHM13v2.0855,479,588 - 55,919,328 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11572484   PMID:18187620   PMID:18521090   PMID:19573479   PMID:20379614   PMID:20607790   PMID:21873635   PMID:22610502   PMID:24852370   PMID:26638075   PMID:33725486   PMID:33961781  
PMID:37696806  


Genomics

Comparative Map Data
XKR4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38855,102,028 - 55,542,054 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl855,102,028 - 55,542,054 (+)EnsemblGRCh38hg38GRCh38
GRCh37856,014,588 - 56,454,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36856,177,571 - 56,601,268 (+)NCBINCBI36Build 36hg18NCBI36
Celera852,005,765 - 52,428,770 (+)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef851,483,309 - 51,906,398 (+)NCBIHuRef
CHM1_1856,066,642 - 56,490,559 (+)NCBICHM1_1
T2T-CHM13v2.0855,479,588 - 55,919,328 (+)NCBIT2T-CHM13v2.0
Xkr4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913,269,956 - 3,741,733 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13,276,124 - 3,741,721 (-)EnsemblGRCm39 Ensembl
GRCm3813,199,733 - 3,671,948 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13,205,901 - 3,671,498 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713,204,563 - 3,661,579 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613,204,563 - 3,661,579 (-)NCBIMGSCv36mm8
Celera13,222,752 - 3,677,461 (-)NCBICelera
Cytogenetic Map1A1NCBI
cM Map11.6NCBI
Xkr4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8520,694,433 - 21,095,350 (+)NCBIGRCr8
mRatBN7.2515,896,818 - 16,297,733 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl515,895,863 - 16,282,962 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx518,139,059 - 18,531,124 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0519,741,102 - 20,129,597 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0519,489,010 - 19,881,087 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0515,746,012 - 16,141,059 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl515,747,614 - 16,140,896 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0520,922,729 - 20,924,038 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0520,529,390 - 20,786,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4516,150,482 - 16,552,907 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera515,271,437 - 15,653,341 (+)NCBICelera
Cytogenetic Map5q12NCBI
Xkr4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545414,313,308 - 14,687,687 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545414,311,466 - 14,704,334 (+)NCBIChiLan1.0ChiLan1.0
XKR4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2770,752,499 - 71,193,752 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1846,477,114 - 46,918,128 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0851,541,410 - 51,982,587 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1848,883,194 - 49,338,840 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl848,914,778 - 49,336,906 (+)Ensemblpanpan1.1panPan2
XKR4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1296,640,108 - 7,081,182 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl296,640,108 - 7,064,029 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha296,955,719 - 7,396,555 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0296,718,168 - 7,155,918 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl296,718,237 - 7,140,881 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1296,694,846 - 7,136,803 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0296,860,019 - 7,304,621 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0297,138,740 - 7,581,032 (+)NCBIUU_Cfam_GSD_1.0
Xkr4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530372,487,107 - 72,897,540 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364961,888,068 - 2,287,963 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364961,887,943 - 2,289,928 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XKR4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl476,062,430 - 76,382,818 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1476,056,895 - 76,382,976 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
XKR4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1851,169,122 - 51,427,310 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603990,220,104 - 90,652,025 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Xkr4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473577,042 - 543,924 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in XKR4
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
NM_052898.1(XKR4):c.1251C>T (p.Val417=) single nucleotide variant Malignant melanoma [RCV000068351] Chr8:55523525 [GRCh38]
Chr8:56436084 [GRCh37]
Chr8:56598638 [NCBI36]
Chr8:8q12.1		 not provided
NM_052898.1(XKR4):c.806+27664G>C single nucleotide variant Lung cancer [RCV000107495] Chr8:55130958 [GRCh38]
Chr8:56043518 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.1(XKR4):c.806+71332G>C single nucleotide variant Lung cancer [RCV000107496] Chr8:55174626 [GRCh38]
Chr8:56087186 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.1(XKR4):c.807-16449G>A single nucleotide variant Lung cancer [RCV000107497] Chr8:55341229 [GRCh38]
Chr8:56253789 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.1(XKR4):c.1007-75840A>G single nucleotide variant Lung cancer [RCV000107499] Chr8:55447441 [GRCh38]
Chr8:56360001 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.1(XKR4):c.1007-55679T>A single nucleotide variant Lung cancer [RCV000107500] Chr8:55467602 [GRCh38]
Chr8:56380162 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1		 likely pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1		 likely pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_052898.2(XKR4):c.388G>A (p.Val130Ile) single nucleotide variant Inborn genetic diseases [RCV003276305] Chr8:55102876 [GRCh38]
Chr8:56015436 [GRCh37]
Chr8:8q12.1		 likely benign
NM_052898.2(XKR4):c.167C>G (p.Pro56Arg) single nucleotide variant Inborn genetic diseases [RCV003255876] Chr8:55102655 [GRCh38]
Chr8:56015215 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1105T>C (p.Tyr369His) single nucleotide variant Inborn genetic diseases [RCV003295083] Chr8:55523379 [GRCh38]
Chr8:56435938 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.673G>A (p.Ala225Thr) single nucleotide variant Inborn genetic diseases [RCV003276306] Chr8:55103161 [GRCh38]
Chr8:56015721 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56288969-56854172)x3 copy number gain not provided [RCV000682985] Chr8:56288969..56854172 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:55907294-56371745)x3 copy number gain not provided [RCV000747583] Chr8:55907294..56371745 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q12.1(chr8:56148811-56212760)x3 copy number gain not provided [RCV000747584] Chr8:56148811..56212760 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
NM_052898.2(XKR4):c.1677C>A (p.Arg559=) single nucleotide variant not provided [RCV000959679] Chr8:55523951 [GRCh38]
Chr8:56436510 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_052898.2(XKR4):c.718A>G (p.Ser240Gly) single nucleotide variant Inborn genetic diseases [RCV003276307] Chr8:55103206 [GRCh38]
Chr8:56015766 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.10:g.(?_54978308)_(56436786_?)dup duplication not provided [RCV001033025] Chr8:54978308..56436786 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.10:g.(?_54978308)_(56436786_?)dup duplication not provided [RCV001323424] Chr8:54978308..56436786 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
NM_052898.2(XKR4):c.569C>T (p.Ala190Val) single nucleotide variant Inborn genetic diseases [RCV002905312] Chr8:55103057 [GRCh38]
Chr8:56015617 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1480G>A (p.Val494Met) single nucleotide variant Inborn genetic diseases [RCV002754219] Chr8:55523754 [GRCh38]
Chr8:56436313 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.229T>G (p.Ser77Ala) single nucleotide variant Inborn genetic diseases [RCV002759896] Chr8:55102717 [GRCh38]
Chr8:56015277 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1864G>A (p.Ala622Thr) single nucleotide variant Inborn genetic diseases [RCV002660580] Chr8:55524138 [GRCh38]
Chr8:56436697 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.439C>A (p.Leu147Ile) single nucleotide variant Inborn genetic diseases [RCV002692060] Chr8:55102927 [GRCh38]
Chr8:56015487 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1906G>A (p.Asp636Asn) single nucleotide variant Inborn genetic diseases [RCV002854103] Chr8:55524180 [GRCh38]
Chr8:56436739 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1620C>G (p.Asp540Glu) single nucleotide variant Inborn genetic diseases [RCV002803075] Chr8:55523894 [GRCh38]
Chr8:56436453 [GRCh37]
Chr8:8q12.1		 likely benign
NM_052898.2(XKR4):c.481G>A (p.Val161Met) single nucleotide variant Inborn genetic diseases [RCV002742092] Chr8:55102969 [GRCh38]
Chr8:56015529 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.530C>T (p.Ala177Val) single nucleotide variant Inborn genetic diseases [RCV002939722] Chr8:55103018 [GRCh38]
Chr8:56015578 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1522A>G (p.Met508Val) single nucleotide variant Inborn genetic diseases [RCV002724417] Chr8:55523796 [GRCh38]
Chr8:56436355 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.697A>G (p.Ser233Gly) single nucleotide variant Inborn genetic diseases [RCV003277660] Chr8:55103185 [GRCh38]
Chr8:56015745 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_052898.2(XKR4):c.1577G>A (p.Cys526Tyr) single nucleotide variant Inborn genetic diseases [RCV003194975] Chr8:55523851 [GRCh38]
Chr8:56436410 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5989
Count of miRNA genes:1364
Interacting mature miRNAs:1822
Transcripts:ENST00000327381
Prediction methods:Miranda, Targetscan
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
D8S165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,185,631 - 56,185,780UniSTSGRCh37
Build 36856,348,185 - 56,348,334RGDNCBI36
Celera852,176,068 - 52,176,207RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,653,708 - 51,653,847UniSTS
Marshfield Genetic Map869.4RGD
Marshfield Genetic Map869.4UniSTS
deCODE Assembly Map868.19UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S2002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,357,437 - 56,357,580UniSTSGRCh37
Build 36856,519,991 - 56,520,134RGDNCBI36
Celera852,347,808 - 52,347,951RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,825,418 - 51,825,561UniSTS
Stanford-G3 RH Map82198.0UniSTS
NCBI RH Map8788.0UniSTS
D8S1997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,430,510 - 56,430,763UniSTSGRCh37
Build 36856,593,064 - 56,593,317RGDNCBI36
Celera852,420,566 - 52,420,819RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,898,194 - 51,898,447UniSTS
Whitehead-RH Map8390.4UniSTS
NCBI RH Map8785.4UniSTS
RH47520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,899,983 - 50,900,118UniSTSGRCh37
GRCh37856,364,938 - 56,365,076UniSTSGRCh37
Build 36856,527,492 - 56,527,630RGDNCBI36
Celera2234,775,996 - 34,776,131UniSTS
Celera852,355,310 - 52,355,448RGD
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map22q13.33UniSTS
HuRef2233,790,430 - 33,790,565UniSTS
HuRef851,832,921 - 51,833,059UniSTS
RH98439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,426,187 - 56,426,314UniSTSGRCh37
Build 36856,588,741 - 56,588,868RGDNCBI36
Celera852,416,240 - 52,416,367RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,893,873 - 51,894,000UniSTS
GeneMap99-GB4 RH Map8299.46UniSTS
SHGC-83208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,077,535 - 56,077,834UniSTSGRCh37
Build 36856,240,089 - 56,240,388RGDNCBI36
Celera852,068,288 - 52,068,587RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,545,889 - 51,546,188UniSTS
TNG Radiation Hybrid Map869621.0UniSTS
RH121183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,207,050 - 56,207,367UniSTSGRCh37
Build 36856,369,604 - 56,369,921RGDNCBI36
Celera852,197,441 - 52,197,758RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,675,040 - 51,675,357UniSTS
TNG Radiation Hybrid Map828246.0UniSTS
RH121648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,351,593 - 56,351,863UniSTSGRCh37
Build 36856,514,147 - 56,514,417RGDNCBI36
Celera852,341,974 - 52,342,244RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,819,579 - 51,819,849UniSTS
TNG Radiation Hybrid Map829617.0UniSTS
RH123537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,065,871 - 56,066,181UniSTSGRCh37
Build 36856,228,425 - 56,228,735RGDNCBI36
Celera852,056,624 - 52,056,934RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,534,227 - 51,534,537UniSTS
TNG Radiation Hybrid Map869611.0UniSTS
SHGC-153278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,313,316 - 56,313,588UniSTSGRCh37
Build 36856,475,870 - 56,476,142RGDNCBI36
Celera852,303,699 - 52,303,971RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,781,297 - 51,781,569UniSTS
TNG Radiation Hybrid Map829627.0UniSTS
SHGC-111478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,353,033 - 56,353,237UniSTSGRCh37
Build 36856,515,587 - 56,515,791RGDNCBI36
Celera852,343,414 - 52,343,617RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,821,035 - 51,821,238UniSTS
TNG Radiation Hybrid Map829611.0UniSTS
SHGC-89410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,191,849 - 56,192,185UniSTSGRCh37
Build 36856,354,403 - 56,354,739RGDNCBI36
Celera852,182,275 - 52,182,611RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,659,915 - 51,660,251UniSTS
TNG Radiation Hybrid Map828246.0UniSTS
D8S2332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,130,223 - 56,130,389UniSTSGRCh37
Build 36856,292,777 - 56,292,943RGDNCBI36
Celera852,120,626 - 52,120,780RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,598,285 - 51,598,439UniSTS
Marshfield Genetic Map869.4UniSTS
deCODE Assembly Map868.19UniSTS
G20264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,438,524 - 56,438,694UniSTSGRCh37
Build 36856,601,078 - 56,601,248RGDNCBI36
Celera852,428,580 - 52,428,750RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,906,208 - 51,906,378UniSTS
A005A23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,438,524 - 56,438,694UniSTSGRCh37
Build 36856,601,078 - 56,601,248RGDNCBI36
Celera852,428,580 - 52,428,750RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,906,208 - 51,906,378UniSTS
GeneMap99-GB4 RH Map8316.07UniSTS
NCBI RH Map8785.4UniSTS
STS-T23637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,364,755 - 56,364,954UniSTSGRCh37
GRCh372250,899,118 - 50,899,999UniSTSGRCh37
Build 36856,527,309 - 56,527,508RGDNCBI36
Celera2234,775,132 - 34,776,012UniSTS
Celera852,355,127 - 52,355,326RGD
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map22q13.33UniSTS
HuRef851,832,738 - 51,832,937UniSTS
HuRef2233,789,566 - 33,790,446UniSTS
GeneMap99-GB4 RH Map8302.57UniSTS
NCBI RH Map8785.4UniSTS
SHGC-5783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,044,116 - 56,044,288UniSTSGRCh37
Build 36856,206,670 - 56,206,842RGDNCBI36
Celera852,034,868 - 52,035,040RGD
Cytogenetic Map8q12.1UniSTS
HuRef851,512,435 - 51,512,607UniSTS
Stanford-G3 RH Map82217.0UniSTS
NCBI RH Map8788.7UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 55 3 161 21 178 1 5 1 161
Low 1428 391 364 33 159 4 879 808 2782 67 333 116 31 1 117 598 2
Below cutoff 877 2281 1128 387 1236 257 3171 1262 772 216 1054 1396 143 1073 1923 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_052898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF165144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY534241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327381   ⟹   ENSP00000328326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl855,102,028 - 55,542,054 (+)Ensembl
RefSeq Acc Id: ENST00000518261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl855,526,186 - 55,533,952 (+)Ensembl
RefSeq Acc Id: ENST00000622811   ⟹   ENSP00000480076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl855,102,457 - 55,526,149 (+)Ensembl
RefSeq Acc Id: NM_052898   ⟹   NP_443130
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38855,102,028 - 55,542,054 (+)NCBI
GRCh37856,015,017 - 56,438,714 (+)RGD
Build 36856,177,571 - 56,601,268 (+)NCBI Archive
Celera852,005,765 - 52,428,770 (+)RGD
HuRef851,483,309 - 51,906,398 (+)RGD
CHM1_1856,066,642 - 56,490,559 (+)NCBI
T2T-CHM13v2.0855,479,588 - 55,919,328 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_443130 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAT07090 (Get FASTA)   NCBI Sequence Viewer  
  BAB67782 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328326
  ENSP00000328326.5
GenBank Protein Q5GH76 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_443130   ⟸   NM_052898
- UniProtKB: Q96PZ8 (UniProtKB/Swiss-Prot),   Q5GH76 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000480076   ⟸   ENST00000622811
RefSeq Acc Id: ENSP00000328326   ⟸   ENST00000327381

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5GH76-F1-model_v2 AlphaFold Q5GH76 1-650 view protein structure

Promoters
RGD ID:7213327
Promoter ID:EPDNEW_H12408
Type:initiation region
Name:XKR4_1
Description:XK related 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38855,102,453 - 55,102,513EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29394 AgrOrtholog
COSMIC XKR4 COSMIC
Ensembl Genes ENSG00000206579 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327381 ENTREZGENE
  ENST00000327381.7 UniProtKB/Swiss-Prot
GTEx ENSG00000206579 GTEx
HGNC ID HGNC:29394 ENTREZGENE
Human Proteome Map XKR4 Human Proteome Map
InterPro XK-rel UniProtKB/Swiss-Prot
KEGG Report hsa:114786 UniProtKB/Swiss-Prot
NCBI Gene 114786 ENTREZGENE
PANTHER XK-RELATED PROTEIN UniProtKB/Swiss-Prot
  XK-RELATED PROTEIN 4 UniProtKB/Swiss-Prot
Pfam XK-related UniProtKB/Swiss-Prot
PharmGKB PA142670563 PharmGKB
UniProt Q5GH76 ENTREZGENE
  Q96PZ8 ENTREZGENE
  XKR4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96PZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 XKR4  XK related 4    X-linked Kx blood group related 4  Symbol and/or name change 5135510 APPROVED
2016-02-10 XKR4  X-linked Kx blood group related 4    XK, Kell blood group complex subunit-related family, member 4  Symbol and/or name change 5135510 APPROVED