CLEC12A (C-type lectin domain family 12 member A) - Rat Genome Database

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Gene: CLEC12A (C-type lectin domain family 12 member A) Homo sapiens
Analyze
Symbol: CLEC12A
Name: C-type lectin domain family 12 member A
RGD ID: 1605851
HGNC Page HGNC:31713
Description: Enables pattern recognition receptor activity and transmembrane signaling receptor activity. Involved in negative regulation of dendritic cell differentiation; negative regulation of immune response; and negative regulation of leukocyte activation. Is active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-type lectin domain family 12, member A; C-type lectin protein CLL-1; C-type lectin superfamily; C-type lectin-like molecule 1; C-type lectin-like molecule-1; CD371; CLL-1; CLL1; DCAL-2; dendritic cell associated lectin 2; dendritic cell-associated lectin 2; hKLRL1; killer cell C-type lectin-like receptor L1; MGC70602; MICL; myeloid inhibitory C-type lectin-like receptor
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh38129,951,268 - 10,006,150 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl129,951,316 - 9,995,694 (+)EnsemblGRCh38hg38GRCh38
GRCh371210,103,867 - 10,138,194 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361210,015,281 - 10,029,461 (+)NCBINCBI36Build 36hg18NCBI36
Celera1215,285,390 - 15,299,566 (+)NCBICelera
Cytogenetic Map12p13.31-p13.2NCBI
HuRef129,846,830 - 9,881,061 (+)NCBIHuRef
CHM1_11210,072,931 - 10,107,502 (+)NCBICHM1_1
T2T-CHM13v2.0129,837,492 - 9,892,550 (+)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. The uric acid crystal receptor Clec12A potentiates type I interferon responses. Li K, etal., Proc Natl Acad Sci U S A. 2019 Sep 10;116(37):18544-18549. doi: 10.1073/pnas.1821351116. Epub 2019 Aug 26.
2. The C-type Lectin Receptor CLEC12A Recognizes Plasmodial Hemozoin and Contributes to Cerebral Malaria Development. Raulf MK, etal., Cell Rep. 2019 Jul 2;28(1):30-38.e5. doi: 10.1016/j.celrep.2019.06.015.
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
5. 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:10508765   PMID:12477932   PMID:12945048   PMID:14739280   PMID:15238421   PMID:15548716   PMID:16239426   PMID:16838277   PMID:17609428   PMID:18350551   PMID:19494282   PMID:21677141  
PMID:21873635   PMID:22341585   PMID:24152218   PMID:25760768   PMID:25957656   PMID:26095365   PMID:26186194   PMID:27506934   PMID:27566820   PMID:27612176   PMID:28514442   PMID:28718199  
PMID:28810819   PMID:29316944   PMID:29411522   PMID:29427319   PMID:29959143   PMID:30520015   PMID:32296183   PMID:33094319   PMID:33095915   PMID:33369070   PMID:33778076   PMID:33961781  
PMID:34053123   PMID:34234773   PMID:34638548   PMID:34830054   PMID:35156780   PMID:35481814   PMID:36542980   PMID:36928077   PMID:37102643   PMID:38367667   PMID:38386511   PMID:39143217  


Genomics

Comparative Map Data
CLEC12A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38129,951,268 - 10,006,150 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl129,951,316 - 9,995,694 (+)EnsemblGRCh38hg38GRCh38
GRCh371210,103,867 - 10,138,194 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361210,015,281 - 10,029,461 (+)NCBINCBI36Build 36hg18NCBI36
Celera1215,285,390 - 15,299,566 (+)NCBICelera
Cytogenetic Map12p13.31-p13.2NCBI
HuRef129,846,830 - 9,881,061 (+)NCBIHuRef
CHM1_11210,072,931 - 10,107,502 (+)NCBICHM1_1
T2T-CHM13v2.0129,837,492 - 9,892,550 (+)NCBIT2T-CHM13v2.0
Clec12a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396129,327,207 - 129,342,266 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6129,319,654 - 129,342,266 (+)EnsemblGRCm39 Ensembl
GRCm386129,349,783 - 129,365,303 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6129,342,691 - 129,365,303 (+)EnsemblGRCm38mm10GRCm38
MGSCv376129,300,304 - 129,315,321 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366129,315,979 - 129,330,996 (+)NCBIMGSCv36mm8
Celera6131,072,396 - 131,087,407 (+)NCBICelera
Cytogenetic Map6F3NCBI
cM Map663.26NCBI
Clec12a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84164,484,162 - 164,502,793 (+)NCBIGRCr8
mRatBN7.24162,798,125 - 162,816,757 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4162,798,125 - 162,816,753 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4169,032,955 - 169,051,584 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04164,815,903 - 164,834,532 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04163,449,952 - 163,468,579 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04163,112,100 - 163,130,979 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4163,112,301 - 163,126,864 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04211,756,068 - 211,774,947 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44166,639,429 - 166,639,958 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4151,485,182 - 151,502,187 (+)NCBICelera
Cytogenetic Map4q42NCBI
CLEC12A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21015,441,991 - 15,498,736 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,438,749 - 15,495,495 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0129,999,334 - 10,056,108 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11210,248,163 - 10,272,070 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1210,248,209 - 10,272,070 (+)Ensemblpanpan1.1panPan2
CLEC12A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12736,040,574 - 36,051,249 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2736,040,577 - 36,051,184 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2710,572,558 - 10,583,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02736,386,889 - 36,397,598 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2736,386,892 - 36,397,560 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12736,274,058 - 36,284,680 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02736,297,581 - 36,308,213 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02710,094,663 - 10,105,311 (+)NCBIUU_Cfam_GSD_1.0
Clec12a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494597,412,004 - 97,424,619 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936902543,670 - 556,014 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936902542,981 - 556,142 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLEC12A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl561,922,895 - 61,937,096 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1561,923,057 - 61,936,843 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2564,755,594 - 64,769,466 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLEC12A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,838,867 - 9,858,869 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660891,913,397 - 1,933,461 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CLEC12A
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001207010.1(CLEC12A):c.508G>A (p.Ala170Thr) single nucleotide variant Malignant melanoma [RCV000062372] Chr12:9980680 [GRCh38]
Chr12:10133279 [GRCh37]
Chr12:10024546 [NCBI36]
Chr12:12p13.31
not provided
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001099431.1(CLEC1B):c.380G>A (p.Gly127Glu) single nucleotide variant Malignant melanoma [RCV000069772] Chr12:9995206 [GRCh38]
Chr12:10147805 [GRCh37]
Chr12:10039072 [NCBI36]
Chr12:12p13.31
not provided
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31-13.2(chr12:10015048-10124253)x1 copy number loss See cases [RCV000448782] Chr12:10015048..10124253 [GRCh37]
Chr12:12p13.31-13.2
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_138337.6(CLEC12A):c.594T>A (p.Asp198Glu) single nucleotide variant not specified [RCV004293819] Chr12:9982082 [GRCh38]
Chr12:10134681 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.100G>T (p.Ala34Ser) single nucleotide variant not specified [RCV004329035] Chr12:9998345 [GRCh38]
Chr12:10150944 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.31-13.2(chr12:9904449-10253713)x3 copy number gain not provided [RCV000737769] Chr12:9904449..10253713 [GRCh37]
Chr12:12p13.31-13.2
benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.31-13.2(chr12:10030182-10123036)x1 copy number loss not provided [RCV000846121] Chr12:10030182..10123036 [GRCh37]
Chr12:12p13.31-13.2
uncertain significance
NM_138337.6(CLEC12A):c.302A>G (p.Asn101Ser) single nucleotide variant not specified [RCV004286382] Chr12:9979447 [GRCh38]
Chr12:10132046 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.12:g.9876748_9972593del deletion not provided [RCV001837403] Chr12:9876748..9972593 [GRCh38]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
NM_138337.6(CLEC12A):c.570G>C (p.Trp190Cys) single nucleotide variant not specified [RCV004304549] Chr12:9982058 [GRCh38]
Chr12:10134657 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.31-13.2(chr12:10049346-10322120)x3 copy number gain not provided [RCV002473879] Chr12:10049346..10322120 [GRCh37]
Chr12:12p13.31-13.2
uncertain significance
NM_016509.4(CLEC1B):c.241T>A (p.Cys81Ser) single nucleotide variant not specified [RCV004144856] Chr12:9997202 [GRCh38]
Chr12:10149801 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.665T>A (p.Met222Lys) single nucleotide variant not specified [RCV004239944] Chr12:9993168 [GRCh38]
Chr12:10145767 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.181T>C (p.Tyr61His) single nucleotide variant not specified [RCV004163788] Chr12:9997262 [GRCh38]
Chr12:10149861 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.359A>G (p.Asn120Ser) single nucleotide variant not specified [RCV004134834] Chr12:9996925 [GRCh38]
Chr12:10149524 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.136G>T (p.Val46Phe) single nucleotide variant not specified [RCV004206863] Chr12:9998309 [GRCh38]
Chr12:10150908 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.187C>A (p.Gln63Lys) single nucleotide variant not specified [RCV004152369] Chr12:9997256 [GRCh38]
Chr12:10149855 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.526G>T (p.Ala176Ser) single nucleotide variant not specified [RCV004149664] Chr12:9980728 [GRCh38]
Chr12:10133327 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.509G>C (p.Trp170Ser) single nucleotide variant not specified [RCV004094752] Chr12:9995176 [GRCh38]
Chr12:10147775 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.402T>G (p.Asn134Lys) single nucleotide variant not specified [RCV004093609] Chr12:9996882 [GRCh38]
Chr12:10149481 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.452T>G (p.Val151Gly) single nucleotide variant not specified [RCV004099602] Chr12:9980654 [GRCh38]
Chr12:10133253 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.236G>A (p.Arg79His) single nucleotide variant not specified [RCV004194744] Chr12:9997207 [GRCh38]
Chr12:10149806 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.69A>C (p.Glu23Asp) single nucleotide variant not specified [RCV004237744] Chr12:9971665 [GRCh38]
Chr12:10124264 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_138337.6(CLEC12A):c.781T>C (p.Tyr261His) single nucleotide variant not specified [RCV004248523] Chr12:9985009 [GRCh38]
Chr12:10137608 [GRCh37]
Chr12:12p13.31
likely benign
NM_138337.6(CLEC12A):c.315C>A (p.Asn105Lys) single nucleotide variant not specified [RCV004287097] Chr12:9979460 [GRCh38]
Chr12:10132059 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.575A>T (p.Asn192Ile) single nucleotide variant not specified [RCV004273515] Chr12:9993258 [GRCh38]
Chr12:10145857 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.205C>G (p.Arg69Gly) single nucleotide variant not specified [RCV004287098] Chr12:9997238 [GRCh38]
Chr12:10149837 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.286G>T (p.Gly96Cys) single nucleotide variant not specified [RCV004345444] Chr12:9996998 [GRCh38]
Chr12:10149597 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.434A>G (p.Tyr145Cys) single nucleotide variant not specified [RCV004343575] Chr12:9980636 [GRCh38]
Chr12:10133235 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.608T>C (p.Met203Thr) single nucleotide variant not specified [RCV004359854] Chr12:9982096 [GRCh38]
Chr12:10134695 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.295A>G (p.Ile99Val) single nucleotide variant not specified [RCV004352655] Chr12:9979440 [GRCh38]
Chr12:10132039 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.487G>A (p.Ala163Thr) single nucleotide variant not specified [RCV004343144] Chr12:9980689 [GRCh38]
Chr12:10133288 [GRCh37]
Chr12:12p13.31
uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_138337.6(CLEC12A):c.579A>T (p.Leu193Phe) single nucleotide variant not specified [RCV004436877] Chr12:9982067 [GRCh38]
Chr12:10134666 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.379A>G (p.Lys127Glu) single nucleotide variant not specified [RCV004436967] Chr12:9996905 [GRCh38]
Chr12:10149504 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.77C>T (p.Ser26Phe) single nucleotide variant not specified [RCV004436969] Chr12:9998368 [GRCh38]
Chr12:10150967 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.497C>A (p.Ala166Asp) single nucleotide variant not specified [RCV004436875] Chr12:9980699 [GRCh38]
Chr12:10133298 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV004436876] Chr12:9980699 [GRCh38]
Chr12:10133298 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.97C>G (p.Pro33Ala) single nucleotide variant not specified [RCV004436874] Chr12:9978971 [GRCh38]
Chr12:10131570 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.100G>C (p.Ala34Pro) single nucleotide variant not specified [RCV004436956] Chr12:9998345 [GRCh38]
Chr12:10150944 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.223C>G (p.Gln75Glu) single nucleotide variant not specified [RCV004436961] Chr12:9997220 [GRCh38]
Chr12:10149819 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.320G>A (p.Arg107Lys) single nucleotide variant not specified [RCV004436964] Chr12:9996964 [GRCh38]
Chr12:10149563 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.353G>C (p.Arg118Thr) single nucleotide variant not specified [RCV004436966] Chr12:9996931 [GRCh38]
Chr12:10149530 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.370A>G (p.Lys124Glu) single nucleotide variant not specified [RCV004612939] Chr12:9979515 [GRCh38]
Chr12:10132114 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.128G>T (p.Gly43Val) single nucleotide variant not specified [RCV004436957] Chr12:9998317 [GRCh38]
Chr12:10150916 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.194A>G (p.Glu65Gly) single nucleotide variant not specified [RCV004436959] Chr12:9997249 [GRCh38]
Chr12:10149848 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.208A>G (p.Thr70Ala) single nucleotide variant not specified [RCV004436960] Chr12:9997235 [GRCh38]
Chr12:10149834 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.228A>T (p.Leu76Phe) single nucleotide variant not specified [RCV004436962] Chr12:9997215 [GRCh38]
Chr12:10149814 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.236G>T (p.Arg79Leu) single nucleotide variant not specified [RCV004436963] Chr12:9997207 [GRCh38]
Chr12:10149806 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.341A>T (p.Tyr114Phe) single nucleotide variant not specified [RCV004436965] Chr12:9996943 [GRCh38]
Chr12:10149542 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.566G>C (p.Gly189Ala) single nucleotide variant not specified [RCV004436968] Chr12:9993267 [GRCh38]
Chr12:10145866 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.73G>A (p.Gly25Ser) single nucleotide variant not specified [RCV004612937] Chr12:9971669 [GRCh38]
Chr12:10124268 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.266T>G (p.Ile89Ser) single nucleotide variant not specified [RCV004612940] Chr12:9979411 [GRCh38]
Chr12:10132010 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.250G>C (p.Val84Leu) single nucleotide variant not specified [RCV004612972] Chr12:9997193 [GRCh38]
Chr12:10149792 [GRCh37]
Chr12:12p13.31
likely benign
NM_016509.4(CLEC1B):c.184C>G (p.Leu62Val) single nucleotide variant not specified [RCV004612974] Chr12:9997259 [GRCh38]
Chr12:10149858 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.91C>T (p.Arg31Cys) single nucleotide variant not specified [RCV004612973] Chr12:9998354 [GRCh38]
Chr12:10150953 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.519C>G (p.Asn173Lys) single nucleotide variant not specified [RCV004612938] Chr12:9980721 [GRCh38]
Chr12:10133320 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4 copy number gain not provided [RCV004819308] Chr12:173787..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_138337.6(CLEC12A):c.265A>G (p.Ile89Val) single nucleotide variant not specified [RCV004900089] Chr12:9979410 [GRCh38]
Chr12:10132009 [GRCh37]
Chr12:12p13.31
likely benign
NM_138337.6(CLEC12A):c.776C>T (p.Ser259Phe) single nucleotide variant not specified [RCV004900090] Chr12:9985004 [GRCh38]
Chr12:10137603 [GRCh37]
Chr12:12p13.31
likely benign
NM_016509.4(CLEC1B):c.511A>C (p.Lys171Gln) single nucleotide variant not specified [RCV004902212] Chr12:9995174 [GRCh38]
Chr12:10147773 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.206G>T (p.Arg69Leu) single nucleotide variant not specified [RCV004902205] Chr12:9997237 [GRCh38]
Chr12:10149836 [GRCh37]
Chr12:12p13.31
likely benign
NM_016509.4(CLEC1B):c.559G>A (p.Glu187Lys) single nucleotide variant not specified [RCV004902214] Chr12:9993274 [GRCh38]
Chr12:10145873 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.136G>A (p.Val46Ile) single nucleotide variant not specified [RCV004902213] Chr12:9998309 [GRCh38]
Chr12:10150908 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.239T>C (p.Phe80Ser) single nucleotide variant not specified [RCV004902211] Chr12:9997204 [GRCh38]
Chr12:10149803 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.419T>C (p.Ile140Thr) single nucleotide variant not specified [RCV004902210] Chr12:9996865 [GRCh38]
Chr12:10149464 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.425A>G (p.Asn142Ser) single nucleotide variant not specified [RCV004902209] Chr12:9996859 [GRCh38]
Chr12:10149458 [GRCh37]
Chr12:12p13.31
likely benign
NM_016509.4(CLEC1B):c.86G>C (p.Trp29Ser) single nucleotide variant not specified [RCV004902207] Chr12:9998359 [GRCh38]
Chr12:10150958 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016509.4(CLEC1B):c.664A>G (p.Met222Val) single nucleotide variant not specified [RCV004902206] Chr12:9993169 [GRCh38]
Chr12:10145768 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.89A>C (p.Lys30Thr) single nucleotide variant not specified [RCV004900086] Chr12:9971685 [GRCh38]
Chr12:10124284 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.215T>C (p.Met72Thr) single nucleotide variant not specified [RCV004900087] Chr12:9979360 [GRCh38]
Chr12:10131959 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_138337.6(CLEC12A):c.779C>T (p.Thr260Ile) single nucleotide variant not specified [RCV004900088] Chr12:9985007 [GRCh38]
Chr12:10137606 [GRCh37]
Chr12:12p13.31
likely benign
NM_138337.6(CLEC12A):c.655G>A (p.Ala219Thr) single nucleotide variant not specified [RCV004900091] Chr12:9984883 [GRCh38]
Chr12:10137482 [GRCh37]
Chr12:12p13.31
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1240
Count of miRNA genes:568
Interacting mature miRNAs:623
Transcripts:ENST00000304361, ENST00000350667, ENST00000355690, ENST00000396507, ENST00000434319, ENST00000449959, ENST00000543839
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597437049GWAS1533123_HC-type lectin domain family 12 member A measurement QTL GWAS1533123 (human)9e-1973C-type lectin domain family 12 member A measurement1299840739984074Human
597123423GWAS1219497_Hblood protein measurement QTL GWAS1219497 (human)2e-149blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1299736509973651Human
597138172GWAS1234246_Hbody height QTL GWAS1234246 (human)6e-08body height (VT:0001253)body height (CMO:0000106)1299650849965085Human
597477042GWAS1573116_Hblood protein measurement QTL GWAS1573116 (human)1e-28blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1299902989990299Human
597046788GWAS1142862_Hfish consumption measurement QTL GWAS1142862 (human)0.0000001fish consumption measurement1299572429957243Human
597301704GWAS1397778_HC-type lectin domain family 12 member A measurement QTL GWAS1397778 (human)3e-41C-type lectin domain family 12 member A measurement1299579429957943Human
597304136GWAS1400210_HC-type lectin domain family 1 member B measurement QTL GWAS1400210 (human)5e-18C-type lectin domain family 1 member B measurement1299941089994109Human
597123428GWAS1219502_Hblood protein measurement QTL GWAS1219502 (human)2e-114blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1299941089994109Human
597164559GWAS1260633_Hgut microbiome measurement QTL GWAS1260633 (human)2e-08gut microbiome measurement1299559009955901Human
597509994GWAS1606068_HC-type lectin domain family 1 member B measurement QTL GWAS1606068 (human)2e-15C-type lectin domain family 1 member B measurement1299952519995252Human
597174529GWAS1270603_HC-type lectin domain family 12 member A measurement QTL GWAS1270603 (human)3e-228C-type lectin domain family 12 member A measurement1299551039955104Human
597174530GWAS1270604_HC-type lectin domain family 12 member A measurement QTL GWAS1270604 (human)9e-5734C-type lectin domain family 12 member A measurement1299850469985047Human
597035628GWAS1131702_Hblood protein measurement QTL GWAS1131702 (human)5e-70blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)1299941089994109Human
597174531GWAS1270605_HC-type lectin domain family 12 member A measurement QTL GWAS1270605 (human)5e-33C-type lectin domain family 12 member A measurement1299635639963564Human
597174532GWAS1270606_HC-type lectin domain family 12 member A measurement QTL GWAS1270606 (human)3e-101C-type lectin domain family 12 member A measurement1299804489980449Human
597432288GWAS1528362_Hprotein measurement QTL GWAS1528362 (human)1e-906protein measurement1299850469985047Human
597174533GWAS1270607_HC-type lectin domain family 1 member B measurement QTL GWAS1270607 (human)1e-47C-type lectin domain family 1 member B measurement1299572429957243Human
597303847GWAS1399921_Hlevel of C-type lectin domain family 12 member A in blood serum QTL GWAS1399921 (human)1e-229level of C-type lectin domain family 12 member A in blood serum1299849589984959Human
597525346GWAS1621420_HC-type lectin domain family 1 member B measurement QTL GWAS1621420 (human)8e-23C-type lectin domain family 1 member B measurement1299875859987586Human

Markers in Region
SHGC-85259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371210,125,305 - 10,125,601UniSTSGRCh37
Build 361210,016,572 - 10,016,868RGDNCBI36
Celera1215,286,681 - 15,286,977RGD
Cytogenetic Map12p13.2UniSTS
HuRef129,868,177 - 9,868,473UniSTS
TNG Radiation Hybrid Map124575.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2315 2721 2192 4150 1680 2106 3 601 1713 442 2020 6814 6174 9 3151 786 1616 1404 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001207010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF247788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY426759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY498552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY547296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE242761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD642076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ976593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI565710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000304361   ⟹   ENSP00000302804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,409 - 9,985,595 (+)Ensembl
Ensembl Acc Id: ENST00000350667   ⟹   ENSP00000345448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,597 - 9,985,026 (+)Ensembl
Ensembl Acc Id: ENST00000355690   ⟹   ENSP00000347916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,951,316 - 9,985,595 (+)Ensembl
Ensembl Acc Id: ENST00000396507   ⟹   ENSP00000379764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,415 - 9,980,697 (+)Ensembl
Ensembl Acc Id: ENST00000434319   ⟹   ENSP00000405244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,435 - 9,984,241 (+)Ensembl
Ensembl Acc Id: ENST00000449959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,505 - 9,995,694 (+)Ensembl
Ensembl Acc Id: ENST00000543839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl129,971,597 - 9,985,026 (+)Ensembl
RefSeq Acc Id: NM_001207010   ⟹   NP_001193939
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,268 - 9,985,595 (+)NCBI
GRCh371210,103,915 - 10,147,704 (+)NCBI
HuRef129,846,830 - 9,881,061 (+)ENTREZGENE
CHM1_11210,072,931 - 10,107,502 (+)NCBI
T2T-CHM13v2.0129,837,492 - 9,871,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300730   ⟹   NP_001287659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,409 - 9,984,253 (+)NCBI
CHM1_11210,093,327 - 10,106,149 (+)NCBI
T2T-CHM13v2.0129,857,585 - 9,870,419 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138337   ⟹   NP_612210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,409 - 9,985,595 (+)NCBI
GRCh371210,103,915 - 10,147,704 (+)NCBI
Build 361210,015,281 - 10,029,461 (+)NCBI Archive
HuRef129,846,830 - 9,881,061 (+)ENTREZGENE
CHM1_11210,093,327 - 10,107,502 (+)NCBI
T2T-CHM13v2.0129,857,585 - 9,871,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201623   ⟹   NP_963917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,409 - 9,985,595 (+)NCBI
GRCh371210,103,915 - 10,147,704 (+)NCBI
Build 361210,015,281 - 10,029,461 (+)NCBI Archive
HuRef129,846,830 - 9,881,061 (+)ENTREZGENE
CHM1_11210,093,327 - 10,107,502 (+)NCBI
T2T-CHM13v2.0129,857,585 - 9,871,760 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253324   ⟹   XP_005253381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,409 - 9,985,595 (+)NCBI
GRCh371210,103,915 - 10,147,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719033   ⟹   XP_006719096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,345 - 9,985,595 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719035   ⟹   XP_006719098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,353 - 9,995,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719036   ⟹   XP_006719099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,354 - 9,984,253 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520570   ⟹   XP_011518872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,338 - 9,985,595 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520571   ⟹   XP_011518873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,350 - 9,985,595 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520573   ⟹   XP_011518875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,965,354 - 9,995,290 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428397   ⟹   XP_047284353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,268 - 9,985,595 (+)NCBI
RefSeq Acc Id: XM_047428399   ⟹   XP_047284355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,268 - 9,995,290 (+)NCBI
RefSeq Acc Id: XM_047428400   ⟹   XP_047284356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,268 - 9,995,290 (+)NCBI
RefSeq Acc Id: XM_047428401   ⟹   XP_047284357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,268 - 9,984,253 (+)NCBI
RefSeq Acc Id: XM_047428402   ⟹   XP_047284358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,409 - 10,006,150 (+)NCBI
RefSeq Acc Id: XM_054371220   ⟹   XP_054227195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,518 - 9,871,760 (+)NCBI
RefSeq Acc Id: XM_054371221   ⟹   XP_054227196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,511 - 9,871,760 (+)NCBI
RefSeq Acc Id: XM_054371222   ⟹   XP_054227197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,857,542 - 9,871,760 (+)NCBI
RefSeq Acc Id: XM_054371223   ⟹   XP_054227198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,523 - 9,871,760 (+)NCBI
RefSeq Acc Id: XM_054371224   ⟹   XP_054227199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,837,492 - 9,871,760 (+)NCBI
RefSeq Acc Id: XM_054371225   ⟹   XP_054227200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,526 - 9,881,772 (+)NCBI
RefSeq Acc Id: XM_054371226   ⟹   XP_054227201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,526 - 9,881,772 (+)NCBI
RefSeq Acc Id: XM_054371227   ⟹   XP_054227202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,851,527 - 9,870,419 (+)NCBI
RefSeq Acc Id: XM_054371228   ⟹   XP_054227203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,837,492 - 9,881,772 (+)NCBI
RefSeq Acc Id: XM_054371229   ⟹   XP_054227204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,837,492 - 9,881,772 (+)NCBI
RefSeq Acc Id: XM_054371230   ⟹   XP_054227205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,837,492 - 9,870,419 (+)NCBI
RefSeq Acc Id: XM_054371231   ⟹   XP_054227206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0129,857,585 - 9,892,550 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001193939 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287659 (Get FASTA)   NCBI Sequence Viewer  
  NP_612210 (Get FASTA)   NCBI Sequence Viewer  
  NP_963917 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253381 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719096 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719098 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719099 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518872 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518873 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518875 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284353 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284355 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284356 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284357 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227195 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227206 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH63424 (Get FASTA)   NCBI Sequence Viewer  
  AAI26290 (Get FASTA)   NCBI Sequence Viewer  
  AAI26292 (Get FASTA)   NCBI Sequence Viewer  
  AAL95693 (Get FASTA)   NCBI Sequence Viewer  
  AAR84594 (Get FASTA)   NCBI Sequence Viewer  
  AAS00605 (Get FASTA)   NCBI Sequence Viewer  
  AAS00606 (Get FASTA)   NCBI Sequence Viewer  
  AAS00607 (Get FASTA)   NCBI Sequence Viewer  
  AAT11783 (Get FASTA)   NCBI Sequence Viewer  
  BAG36713 (Get FASTA)   NCBI Sequence Viewer  
  CAI45358 (Get FASTA)   NCBI Sequence Viewer  
  CBX47387 (Get FASTA)   NCBI Sequence Viewer  
  EAW96132 (Get FASTA)   NCBI Sequence Viewer  
  EAW96133 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000302804
  ENSP00000302804.4
  ENSP00000345448
  ENSP00000345448.4
  ENSP00000347916
  ENSP00000347916.4
  ENSP00000379764.3
  ENSP00000405244
  ENSP00000405244.2
GenBank Protein Q5QGZ9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001193939   ⟸   NM_001207010
- Peptide Label: isoform 3
- UniProtKB: Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_612210   ⟸   NM_138337
- Peptide Label: isoform 1
- UniProtKB: Q6RH78 (UniProtKB/Swiss-Prot),   Q6RH77 (UniProtKB/Swiss-Prot),   Q6P4H1 (UniProtKB/Swiss-Prot),   B2RA16 (UniProtKB/Swiss-Prot),   Q8TDQ6 (UniProtKB/Swiss-Prot),   Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_963917   ⟸   NM_201623
- Peptide Label: isoform 2
- UniProtKB: Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005253381   ⟸   XM_005253324
- Peptide Label: isoform X2
- UniProtKB: Q6RH78 (UniProtKB/Swiss-Prot),   Q6RH77 (UniProtKB/Swiss-Prot),   Q6P4H1 (UniProtKB/Swiss-Prot),   B2RA16 (UniProtKB/Swiss-Prot),   Q8TDQ6 (UniProtKB/Swiss-Prot),   Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719098   ⟸   XM_006719035
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006719096   ⟸   XM_006719033
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006719099   ⟸   XM_006719036
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001287659   ⟸   NM_001300730
- Peptide Label: isoform 4
- UniProtKB: Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518872   ⟸   XM_011520570
- Peptide Label: isoform X2
- UniProtKB: Q6RH78 (UniProtKB/Swiss-Prot),   Q6RH77 (UniProtKB/Swiss-Prot),   Q6P4H1 (UniProtKB/Swiss-Prot),   B2RA16 (UniProtKB/Swiss-Prot),   Q8TDQ6 (UniProtKB/Swiss-Prot),   Q5QGZ9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518875   ⟸   XM_011520573
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011518873   ⟸   XM_011520571
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000345448   ⟸   ENST00000350667
Ensembl Acc Id: ENSP00000347916   ⟸   ENST00000355690
Ensembl Acc Id: ENSP00000405244   ⟸   ENST00000434319
Ensembl Acc Id: ENSP00000379764   ⟸   ENST00000396507
Ensembl Acc Id: ENSP00000302804   ⟸   ENST00000304361
RefSeq Acc Id: XP_047284355   ⟸   XM_047428399
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047284356   ⟸   XM_047428400
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047284353   ⟸   XM_047428397
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047284357   ⟸   XM_047428401
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047284358   ⟸   XM_047428402
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054227203   ⟸   XM_054371228
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054227204   ⟸   XM_054371229
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054227199   ⟸   XM_054371224
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227205   ⟸   XM_054371230
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054227196   ⟸   XM_054371221
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227195   ⟸   XM_054371220
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227198   ⟸   XM_054371223
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227200   ⟸   XM_054371225
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227201   ⟸   XM_054371226
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054227202   ⟸   XM_054371227
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054227197   ⟸   XM_054371222
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227206   ⟸   XM_054371231
- Peptide Label: isoform X11
Protein Domains
C-type lectin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5QGZ9-F1-model_v2 AlphaFold Q5QGZ9 1-265 view protein structure

Promoters
RGD ID:7223141
Promoter ID:EPDNEW_H17315
Type:initiation region
Name:CLEC12A_2
Description:C-type lectin domain family 12 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17316  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,951,299 - 9,951,359EPDNEW
RGD ID:7223139
Promoter ID:EPDNEW_H17316
Type:multiple initiation site
Name:CLEC12A_1
Description:C-type lectin domain family 12 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17315  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38129,971,414 - 9,971,474EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31713 AgrOrtholog
COSMIC CLEC12A COSMIC
Ensembl Genes ENSG00000172322 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304361 ENTREZGENE
  ENST00000304361.9 UniProtKB/Swiss-Prot
  ENST00000350667 ENTREZGENE
  ENST00000350667.4 UniProtKB/Swiss-Prot
  ENST00000355690 ENTREZGENE
  ENST00000355690.8 UniProtKB/Swiss-Prot
  ENST00000396507.7 UniProtKB/TrEMBL
  ENST00000434319 ENTREZGENE
  ENST00000434319.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172322 GTEx
HGNC ID HGNC:31713 ENTREZGENE
Human Proteome Map CLEC12A Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLEC12A/B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NKR-like_CTLD UniProtKB/Swiss-Prot
KEGG Report hsa:160364 UniProtKB/Swiss-Prot
NCBI Gene 160364 ENTREZGENE
OMIM 612088 OMIM
PANTHER C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47647 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lectin_C UniProtKB/Swiss-Prot
PharmGKB PA142672094 PharmGKB
PROSITE C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot
SMART CLECT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MVL9_HUMAN UniProtKB/TrEMBL
  B2RA16 ENTREZGENE
  CL12A_HUMAN UniProtKB/Swiss-Prot
  L8EAV5_HUMAN UniProtKB/TrEMBL
  Q5QGZ9 ENTREZGENE
  Q6P4H1 ENTREZGENE
  Q6RH77 ENTREZGENE
  Q6RH78 ENTREZGENE
  Q8TDQ6 ENTREZGENE
UniProt Secondary B2RA16 UniProtKB/Swiss-Prot
  Q6P4H1 UniProtKB/Swiss-Prot
  Q6RH77 UniProtKB/Swiss-Prot
  Q6RH78 UniProtKB/Swiss-Prot
  Q8TDQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 CLEC12A  C-type lectin domain family 12 member A    C-type lectin domain family 12, member A  Symbol and/or name change 5135510 APPROVED