CD180 (CD180 molecule) - Rat Genome Database

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Gene: CD180 (CD180 molecule) Homo sapiens
Analyze
Symbol: CD180
Name: CD180 molecule
RGD ID: 1317791
HGNC Page HGNC:6726
Description: Acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway. Located in mitotic spindle; nuclear lumen; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CD180 antigen; LY64; Ly78; lymphocyte antigen 64; lymphocyte antigen 64 homolog, radioprotective 105kda (mouse); lymphocyte antigen-64, radioprotective, 105kDa; MGC126233; MGC126234; radioprotective 105 kDa protein; RP105
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38567,179,613 - 67,196,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl567,179,613 - 67,196,799 (-)EnsemblGRCh38hg38GRCh38
GRCh37566,475,441 - 66,492,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36566,513,872 - 66,528,368 (-)NCBINCBI36Build 36hg18NCBI36
Build 34566,513,871 - 66,528,368NCBI
Celera563,476,512 - 63,491,026 (-)NCBICelera
Cytogenetic Map5q12.3NCBI
HuRef563,436,781 - 63,451,299 (-)NCBIHuRef
CHM1_1566,478,494 - 66,493,008 (-)NCBICHM1_1
T2T-CHM13v2.0568,001,761 - 68,018,951 (-)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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8975706   PMID:9686597   PMID:9763566   PMID:10880523   PMID:12477932   PMID:12539042   PMID:15340161   PMID:15342556   PMID:15489334   PMID:15852007   PMID:17448566   PMID:19423540  
PMID:20133206   PMID:20233331   PMID:20237496   PMID:20331378   PMID:20379614   PMID:20406964   PMID:20430725   PMID:20438785   PMID:21048031   PMID:21857663   PMID:21873635   PMID:21959264  
PMID:22219177   PMID:22484241   PMID:23103284   PMID:25802446   PMID:25879560   PMID:26277892   PMID:26555723   PMID:28005267   PMID:28073847   PMID:28982149   PMID:29089453   PMID:29284783  
PMID:29511161   PMID:33455071   PMID:33904315   PMID:34124274   PMID:35849076   PMID:37460961  


Genomics

Comparative Map Data
CD180
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38567,179,613 - 67,196,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl567,179,613 - 67,196,799 (-)EnsemblGRCh38hg38GRCh38
GRCh37566,475,441 - 66,492,627 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36566,513,872 - 66,528,368 (-)NCBINCBI36Build 36hg18NCBI36
Build 34566,513,871 - 66,528,368NCBI
Celera563,476,512 - 63,491,026 (-)NCBICelera
Cytogenetic Map5q12.3NCBI
HuRef563,436,781 - 63,451,299 (-)NCBIHuRef
CHM1_1566,478,494 - 66,493,008 (-)NCBICHM1_1
T2T-CHM13v2.0568,001,761 - 68,018,951 (-)NCBIT2T-CHM13v2.0
Cd180
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913102,830,055 - 102,843,139 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13102,830,066 - 102,876,137 (+)EnsemblGRCm39 Ensembl
GRCm3813102,693,547 - 102,706,631 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13102,693,558 - 102,739,629 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713103,483,638 - 103,496,711 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613103,813,970 - 103,827,337 (+)NCBIMGSCv36mm8
Celera13106,283,432 - 106,296,502 (+)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1354.92NCBI
Cd180
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8235,589,889 - 35,602,837 (+)NCBIGRCr8
mRatBN7.2233,855,940 - 33,870,046 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl233,855,991 - 33,899,936 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx240,975,821 - 40,988,664 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0239,034,515 - 39,047,362 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0233,882,318 - 33,895,184 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0232,820,275 - 32,833,223 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl232,820,322 - 32,833,125 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0251,958,928 - 51,971,865 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4233,609,034 - 33,621,585 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1233,529,523 - 33,541,542 (+)NCBI
Celera229,841,151 - 29,853,945 (+)NCBICelera
Cytogenetic Map2q13NCBI
Cd180
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554461,940,496 - 1,961,287 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554461,940,498 - 1,959,804 (+)NCBIChiLan1.0ChiLan1.0
CD180
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2446,719,183 - 46,734,718 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1544,872,809 - 44,888,345 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0546,799,607 - 46,815,214 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1548,364,874 - 48,381,700 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl548,364,874 - 48,381,694 (+)Ensemblpanpan1.1panPan2
CD180
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1252,644,357 - 52,660,830 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl252,645,766 - 52,660,790 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha249,605,279 - 49,621,785 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0253,143,232 - 53,159,719 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl253,144,431 - 53,159,652 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1250,207,853 - 50,224,342 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0250,990,473 - 51,006,742 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0251,878,479 - 51,894,980 (-)NCBIUU_Cfam_GSD_1.0
Cd180
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213193,168,668 - 193,183,146 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364802,105,084 - 2,119,739 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364802,105,179 - 2,119,137 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD180
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1645,571,173 - 45,588,066 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11645,571,252 - 45,588,032 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21649,212,355 - 49,229,137 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap16q14NCBI
CD180
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1463,361,277 - 63,377,492 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl463,359,844 - 63,377,459 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604912,018,496 - 12,039,973 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd180
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248152,511,552 - 2,529,891 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248152,511,506 - 2,528,396 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CD180
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1 copy number loss See cases [RCV000051223] Chr5:64932763..69495504 [GRCh38]
Chr5:64228590..68791331 [GRCh37]
Chr5:64264346..68827087 [NCBI36]
Chr5:5q12.3-13.2		 pathogenic
NM_005582.2(CD180):c.1338C>T (p.Phe446=) single nucleotide variant Malignant melanoma [RCV000066975] Chr5:67183505 [GRCh38]
Chr5:66479333 [GRCh37]
Chr5:66515089 [NCBI36]
Chr5:5q12.3		 not provided
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 copy number gain See cases [RCV000135640] Chr5:63207112..71291191 [GRCh38]
Chr5:62502939..70587018 [GRCh37]
Chr5:62538695..70622774 [NCBI36]
Chr5:5q12.1-13.2		 likely pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5q12.3-13.1(chr5:66201296-68094987)x1 copy number loss See cases [RCV000141733] Chr5:66201296..68094987 [GRCh38]
Chr5:65497124..67390815 [GRCh37]
Chr5:65532880..67426571 [NCBI36]
Chr5:5q12.3-13.1		 uncertain significance
GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3 copy number gain See cases [RCV000142796] Chr5:65976124..71317474 [GRCh38]
Chr5:65271952..70613301 [GRCh37]
Chr5:65307708..70649057 [NCBI36]
Chr5:5q12.3-13.2		 uncertain significance
GRCh37/hg19 5q12.1-13.2(chr5:60722469-70792199)x1 copy number loss See cases [RCV000447549] Chr5:60722469..70792199 [GRCh37]
Chr5:5q12.1-13.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.3-13.1(chr5:66317221-66855702)x3 copy number gain See cases [RCV000510632] Chr5:66317221..66855702 [GRCh37]
Chr5:5q12.3-13.1		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 copy number gain See cases [RCV000510792] Chr5:58966132..68847066 [GRCh37]
Chr5:5q12.1-13.2		 likely pathogenic
NM_005582.3(CD180):c.812T>C (p.Leu271Pro) single nucleotide variant not specified [RCV004301736] Chr5:67184031 [GRCh38]
Chr5:66479859 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.226C>T (p.Leu76Phe) single nucleotide variant not specified [RCV004285735] Chr5:67185882 [GRCh38]
Chr5:66481710 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1835C>T (p.Ser612Phe) single nucleotide variant not specified [RCV004323772] Chr5:67183008 [GRCh38]
Chr5:66478836 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.403A>G (p.Thr135Ala) single nucleotide variant not specified [RCV004309027] Chr5:67184440 [GRCh38]
Chr5:66480268 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.482T>G (p.Ile161Ser) single nucleotide variant not specified [RCV004299824] Chr5:67184361 [GRCh38]
Chr5:66480189 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1450G>C (p.Gly484Arg) single nucleotide variant not specified [RCV004306499] Chr5:67183393 [GRCh38]
Chr5:66479221 [GRCh37]
Chr5:5q12.3		 uncertain significance
GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1 copy number loss not provided [RCV000682564] Chr5:65315606..68755816 [GRCh37]
Chr5:5q12.3-13.2		 likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_005582.3(CD180):c.1194G>A (p.Leu398=) single nucleotide variant not provided [RCV000964125] Chr5:67183649 [GRCh38]
Chr5:66479477 [GRCh37]
Chr5:5q12.3		 benign
NM_005582.3(CD180):c.1288A>G (p.Thr430Ala) single nucleotide variant not provided [RCV000970127] Chr5:67183555 [GRCh38]
Chr5:66479383 [GRCh37]
Chr5:5q12.3		 benign
NM_005582.3(CD180):c.1806G>A (p.Ser602=) single nucleotide variant not provided [RCV000900011] Chr5:67183037 [GRCh38]
Chr5:66478865 [GRCh37]
Chr5:5q12.3		 likely benign
NM_005582.3(CD180):c.666G>A (p.Thr222=) single nucleotide variant not provided [RCV000900012] Chr5:67184177 [GRCh38]
Chr5:66480005 [GRCh37]
Chr5:5q12.3		 benign
NM_005582.3(CD180):c.1752G>A (p.Ser584=) single nucleotide variant not provided [RCV000881466] Chr5:67183091 [GRCh38]
Chr5:66478919 [GRCh37]
Chr5:5q12.3		 benign
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_005582.3(CD180):c.1099G>C (p.Glu367Gln) single nucleotide variant not specified [RCV004284303] Chr5:67183744 [GRCh38]
Chr5:66479572 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.314C>T (p.Thr105Ile) single nucleotide variant not specified [RCV004301707] Chr5:67184529 [GRCh38]
Chr5:66480357 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.666G>C (p.Thr222=) single nucleotide variant not provided [RCV000935133] Chr5:67184177 [GRCh38]
Chr5:66480005 [GRCh37]
Chr5:5q12.3		 likely benign
GRCh37/hg19 5q12.3-13.1(chr5:65936855-66783546)x3 copy number gain not provided [RCV001834379] Chr5:65936855..66783546 [GRCh37]
Chr5:5q12.3-13.1		 uncertain significance
GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646) copy number loss not specified [RCV002053499] Chr5:64049692..70306646 [GRCh37]
Chr5:5q12.3-13.2		 pathogenic
NM_005582.3(CD180):c.374A>G (p.Lys125Arg) single nucleotide variant not specified [RCV004297781] Chr5:67184469 [GRCh38]
Chr5:66480297 [GRCh37]
Chr5:5q12.3		 uncertain significance
GRCh37/hg19 5q12.3-13.1(chr5:66424994-66710524)x3 copy number gain not provided [RCV002474847] Chr5:66424994..66710524 [GRCh37]
Chr5:5q12.3-13.1		 uncertain significance
NM_005582.3(CD180):c.427A>T (p.Ile143Phe) single nucleotide variant not specified [RCV004214205] Chr5:67184416 [GRCh38]
Chr5:66480244 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.459C>G (p.Ser153Arg) single nucleotide variant not specified [RCV004151151] Chr5:67184384 [GRCh38]
Chr5:66480212 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1243G>T (p.Ala415Ser) single nucleotide variant not specified [RCV004137753] Chr5:67183600 [GRCh38]
Chr5:66479428 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.517C>T (p.Arg173Trp) single nucleotide variant not specified [RCV004181629] Chr5:67184326 [GRCh38]
Chr5:66480154 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1090G>A (p.Gly364Ser) single nucleotide variant not specified [RCV004227273] Chr5:67183753 [GRCh38]
Chr5:66479581 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.692G>A (p.Gly231Glu) single nucleotide variant not specified [RCV004193418] Chr5:67184151 [GRCh38]
Chr5:66479979 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.800T>C (p.Met267Thr) single nucleotide variant not specified [RCV004206292] Chr5:67184043 [GRCh38]
Chr5:66479871 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1043C>T (p.Thr348Ile) single nucleotide variant not specified [RCV004129528] Chr5:67183800 [GRCh38]
Chr5:66479628 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.719A>G (p.Asn240Ser) single nucleotide variant not specified [RCV004174734] Chr5:67184124 [GRCh38]
Chr5:66479952 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.155C>T (p.Pro52Leu) single nucleotide variant not specified [RCV004275925] Chr5:67185953 [GRCh38]
Chr5:66481781 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1414C>T (p.Arg472Trp) single nucleotide variant not specified [RCV004261873] Chr5:67183429 [GRCh38]
Chr5:66479257 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.554T>C (p.Ile185Thr) single nucleotide variant not specified [RCV004252394] Chr5:67184289 [GRCh38]
Chr5:66480117 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.706T>A (p.Ser236Thr) single nucleotide variant not specified [RCV004283075] Chr5:67184137 [GRCh38]
Chr5:66479965 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.923C>T (p.Thr308Ile) single nucleotide variant not specified [RCV004325984] Chr5:67183920 [GRCh38]
Chr5:66479748 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.916A>C (p.Thr306Pro) single nucleotide variant not specified [RCV004366178] Chr5:67183927 [GRCh38]
Chr5:66479755 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1389T>A (p.His463Gln) single nucleotide variant not specified [RCV004344594] Chr5:67183454 [GRCh38]
Chr5:66479282 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1259C>T (p.Pro420Leu) single nucleotide variant not specified [RCV004343138] Chr5:67183584 [GRCh38]
Chr5:66479412 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1802G>C (p.Gly601Ala) single nucleotide variant not specified [RCV004337164] Chr5:67183041 [GRCh38]
Chr5:66478869 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.238A>G (p.Thr80Ala) single nucleotide variant not specified [RCV004358193] Chr5:67185870 [GRCh38]
Chr5:66481698 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1603G>A (p.Asp535Asn) single nucleotide variant not specified [RCV004350169] Chr5:67183240 [GRCh38]
Chr5:66479068 [GRCh37]
Chr5:5q12.3		 likely benign
Single allele deletion not provided [RCV003448709] Chr5:62757224..67825254 [GRCh37]
Chr5:5q12.1-13.1		 uncertain significance
NM_005582.3(CD180):c.681G>A (p.Leu227=) single nucleotide variant not provided [RCV003428531] Chr5:67184162 [GRCh38]
Chr5:66479990 [GRCh37]
Chr5:5q12.3		 likely benign
GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1 copy number loss See cases [RCV004442777] Chr5:64364710..72835471 [GRCh37]
Chr5:5q12.3-13.2		 pathogenic
GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1 copy number loss not provided [RCV003885511] Chr5:64111112..67101123 [GRCh37]
Chr5:5q12.3-13.1		 pathogenic
NM_005582.3(CD180):c.1574T>C (p.Val525Ala) single nucleotide variant not specified [RCV004433242] Chr5:67183269 [GRCh38]
Chr5:66479097 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.83G>A (p.Cys28Tyr) single nucleotide variant not specified [RCV004433254] Chr5:67196559 [GRCh38]
Chr5:66492387 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.526A>C (p.Lys176Gln) single nucleotide variant not specified [RCV004433251] Chr5:67184317 [GRCh38]
Chr5:66480145 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1445A>C (p.Gln482Pro) single nucleotide variant not specified [RCV004433241] Chr5:67183398 [GRCh38]
Chr5:66479226 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1663A>C (p.Ile555Leu) single nucleotide variant not specified [RCV004433243] Chr5:67183180 [GRCh38]
Chr5:66479008 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1783A>G (p.Asn595Asp) single nucleotide variant not specified [RCV004433244] Chr5:67183060 [GRCh38]
Chr5:66478888 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.224G>C (p.Arg75Thr) single nucleotide variant not specified [RCV004433247] Chr5:67185884 [GRCh38]
Chr5:66481712 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.404C>T (p.Thr135Met) single nucleotide variant not specified [RCV004433250] Chr5:67184439 [GRCh38]
Chr5:66480267 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.829G>A (p.Glu277Lys) single nucleotide variant not specified [RCV004433253] Chr5:67184014 [GRCh38]
Chr5:66479842 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.304C>G (p.Gln102Glu) single nucleotide variant not specified [RCV004433248] Chr5:67184539 [GRCh38]
Chr5:66480367 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.974A>C (p.Lys325Thr) single nucleotide variant not specified [RCV004433255] Chr5:67183869 [GRCh38]
Chr5:66479697 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1270C>G (p.Leu424Val) single nucleotide variant not specified [RCV004433239] Chr5:67183573 [GRCh38]
Chr5:66479401 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.1889T>C (p.Ile630Thr) single nucleotide variant not specified [RCV004433245] Chr5:67182954 [GRCh38]
Chr5:66478782 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.311G>T (p.Ser104Ile) single nucleotide variant not specified [RCV004433249] Chr5:67184532 [GRCh38]
Chr5:66480360 [GRCh37]
Chr5:5q12.3		 uncertain significance
NM_005582.3(CD180):c.721G>A (p.Gly241Ser) single nucleotide variant not specified [RCV004433252] Chr5:67184122 [GRCh38]
Chr5:66479950 [GRCh37]
Chr5:5q12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:478
Count of miRNA genes:397
Interacting mature miRNAs:426
Transcripts:ENST00000256447, ENST00000515027
Prediction methods:Miranda, Rnahybrid, 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
RH80777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37566,478,447 - 66,478,693UniSTSGRCh37
Build 36566,514,203 - 66,514,449RGDNCBI36
Celera563,476,856 - 63,477,102RGD
Cytogenetic Map5q12UniSTS
HuRef563,437,125 - 63,437,371UniSTS
GeneMap99-GB4 RH Map5323.94UniSTS
RH93570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37566,478,293 - 66,478,477UniSTSGRCh37
Build 36566,514,049 - 66,514,233RGDNCBI36
Celera563,476,702 - 63,476,886RGD
Cytogenetic Map5q12UniSTS
HuRef563,436,971 - 63,437,155UniSTS
GeneMap99-GB4 RH Map5340.23UniSTS
SHGC-60152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37566,478,216 - 66,478,365UniSTSGRCh37
Build 36566,513,972 - 66,514,121RGDNCBI36
Celera563,476,625 - 63,476,774RGD
Cytogenetic Map5q12UniSTS
HuRef563,436,894 - 63,437,043UniSTS
TNG Radiation Hybrid Map530546.0UniSTS
SHGC-59933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37566,478,457 - 66,478,588UniSTSGRCh37
Build 36566,514,213 - 66,514,344RGDNCBI36
Celera563,476,866 - 63,476,997RGD
Cytogenetic Map5q12UniSTS
HuRef563,437,135 - 63,437,266UniSTS
TNG Radiation Hybrid Map530546.0UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 57 58 13 2 839 2 7 2 7 21 46 32 2
Low 1180 1349 676 374 1034 249 1112 327 880 235 539 930 133 1 903 475 4 2
Below cutoff 1192 1561 1026 245 77 211 3072 1763 2816 156 852 641 41 299 2187 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000256447   ⟹   ENSP00000256447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl567,179,613 - 67,196,799 (-)Ensembl
RefSeq Acc Id: ENST00000515027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl567,184,522 - 67,186,297 (-)Ensembl
RefSeq Acc Id: NM_005582   ⟹   NP_005573
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38567,179,613 - 67,196,799 (-)NCBI
GRCh37566,477,205 - 66,492,617 (-)NCBI
Build 36566,513,872 - 66,528,368 (-)NCBI Archive
HuRef563,436,781 - 63,451,299 (-)ENTREZGENE
CHM1_1566,478,494 - 66,493,008 (-)NCBI
T2T-CHM13v2.0568,001,761 - 68,018,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248504   ⟹   XP_005248561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38567,179,613 - 67,196,799 (-)NCBI
GRCh37566,477,205 - 66,492,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417178   ⟹   XP_047273134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38567,179,613 - 67,192,566 (-)NCBI
RefSeq Acc Id: XM_054352583   ⟹   XP_054208558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0568,001,761 - 68,014,718 (-)NCBI
RefSeq Acc Id: XM_054352584   ⟹   XP_054208559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0568,001,761 - 68,018,951 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005573   ⟸   NM_005582
- Peptide Label: precursor
- UniProtKB: B2R7Z7 (UniProtKB/Swiss-Prot),   Q32MM5 (UniProtKB/Swiss-Prot),   Q99467 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248561   ⟸   XM_005248504
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000256447   ⟸   ENST00000256447
RefSeq Acc Id: XP_047273134   ⟸   XM_047417178
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208559   ⟸   XM_054352584
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208558   ⟸   XM_054352583
- Peptide Label: isoform X1
Protein Domains
LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99467-F1-model_v2 AlphaFold Q99467 1-661 view protein structure

Promoters
RGD ID:6802949
Promoter ID:HG_KWN:50286
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000253973
Position:
Human AssemblyChrPosition (strand)Source
Build 36566,528,159 - 66,528,659 (-)MPROMDB
RGD ID:6869766
Promoter ID:EPDNEW_H8048
Type:initiation region
Name:CD180_1
Description:CD180 molecule
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
GRCh38567,196,777 - 67,196,837EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6726 AgrOrtholog
COSMIC CD180 COSMIC
Ensembl Genes ENSG00000134061 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000256447 ENTREZGENE
  ENST00000256447.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000134061 GTEx
HGNC ID HGNC:6726 ENTREZGENE
Human Proteome Map CD180 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_11 UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4064 UniProtKB/Swiss-Prot
NCBI Gene 4064 ENTREZGENE
OMIM 602226 OMIM
PANTHER CD180 ANTIGEN UniProtKB/Swiss-Prot
  SLIT RELATED LEUCINE-RICH REPEAT NEURONAL PROTEIN UniProtKB/Swiss-Prot
Pfam LRR_11 UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA30490 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
SMART LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
UniProt B2R7Z7 ENTREZGENE
  CD180_HUMAN UniProtKB/Swiss-Prot
  Q32MM5 ENTREZGENE
  Q99467 ENTREZGENE
UniProt Secondary B2R7Z7 UniProtKB/Swiss-Prot
  Q32MM5 UniProtKB/Swiss-Prot