COLEC10 (collectin subfamily member 10) - Rat Genome Database

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Gene: COLEC10 (collectin subfamily member 10) Homo sapiens
Analyze
Symbol: COLEC10
Name: collectin subfamily member 10
RGD ID: 1316172
HGNC Page HGNC
Description: Exhibits chemoattractant activity. Involved in cranial skeletal system development. Localizes to cytoplasm and extracellular space. Implicated in 3MC syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3MC3; CL-10; CL-34; CLL1; collectin 34; collectin liver 1; collectin liver protein 1; collectin sub-family member 10 (C-type lectin); collectin-10; collectin-34; MGC118794; MGC118795
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
GRCh38.p13 Ensembl8118,995,452 - 119,108,455 (+)EnsemblGRCh38hg38GRCh38
GRCh388118,952,233 - 119,108,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378119,964,502 - 120,120,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,148,627 - 120,188,388 (+)NCBINCBI36hg18NCBI36
Build 348120,148,626 - 120,188,381NCBI
Celera8116,268,405 - 116,308,560 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,407,207 - 115,446,861 (+)NCBIHuRef
CHM1_18120,005,421 - 120,161,711 (+)NCBICHM1_1
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

Molecular Function

References

Additional References at PubMed
PMID:10224141   PMID:12450124   PMID:12477932   PMID:12975309   PMID:18445777   PMID:19801982   PMID:20237496   PMID:20548944   PMID:21873635   PMID:21980299   PMID:22504420   PMID:23437003  
PMID:24174618   PMID:24249740   PMID:24945404   PMID:25080503   PMID:25189868   PMID:25710878   PMID:26154564   PMID:26186194   PMID:26344197   PMID:27057739   PMID:27341702   PMID:28301481  
PMID:28514442   PMID:29987050   PMID:30108587   PMID:30194290   PMID:32694731   PMID:32751929  


Genomics

Comparative Map Data
COLEC10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8118,995,452 - 119,108,455 (+)EnsemblGRCh38hg38GRCh38
GRCh388118,952,233 - 119,108,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378119,964,502 - 120,120,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,148,627 - 120,188,388 (+)NCBINCBI36hg18NCBI36
Build 348120,148,626 - 120,188,381NCBI
Celera8116,268,405 - 116,308,560 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8115,407,207 - 115,446,861 (+)NCBIHuRef
CHM1_18120,005,421 - 120,161,711 (+)NCBICHM1_1
Colec10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,274,170 - 54,329,755 (+)NCBIGRCm39mm39
GRCm39 Ensembl1554,274,170 - 54,329,754 (+)Ensembl
GRCm381554,410,774 - 54,466,360 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1554,410,774 - 54,466,358 (+)EnsemblGRCm38mm10GRCm38
MGSCv371554,242,329 - 54,297,913 (+)NCBIGRCm37mm9NCBIm37
MGSCv361554,240,857 - 54,296,441 (+)NCBImm8
Celera1555,962,632 - 56,012,952 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.15NCBI
Colec10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2785,744,895 - 85,806,368 (+)NCBI
Rnor_6.0 Ensembl793,975,451 - 94,035,999 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0793,975,451 - 94,035,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0794,613,483 - 94,674,031 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4790,784,784 - 90,847,510 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1790,818,944 - 90,878,041 (+)NCBI
Celera782,565,965 - 82,626,913 (+)NCBICelera
Cytogenetic Map7q32NCBI
Colec10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541724,954,938 - 24,994,188 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541724,954,969 - 24,994,188 (+)NCBIChiLan1.0ChiLan1.0
COLEC10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18118,277,527 - 118,317,271 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8118,277,484 - 118,317,271 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08115,758,592 - 115,798,548 (+)NCBIMhudiblu_PPA_v0panPan3
COLEC10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,291,168 - 18,331,918 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,291,051 - 18,330,617 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,292,931 - 18,333,845 (+)NCBI
ROS_Cfam_1.01318,611,234 - 18,652,172 (+)NCBI
UMICH_Zoey_3.11318,342,227 - 18,383,162 (+)NCBI
UNSW_CanFamBas_1.01318,437,903 - 18,478,782 (+)NCBI
UU_Cfam_GSD_1.01318,668,769 - 18,709,959 (+)NCBI
Colec10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,985,456 - 20,042,273 (-)NCBI
SpeTri2.0NW_00493647027,416,471 - 27,449,206 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COLEC10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,692,826 - 19,744,135 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,692,990 - 20,143,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
COLEC10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18113,663,768 - 113,704,070 (+)NCBI
ChlSab1.1 Ensembl8113,664,263 - 113,702,720 (+)Ensembl
Colec10
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,302,075 - 17,350,682 (+)NCBI

Position Markers
STS-R97432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,118,991 - 120,119,117UniSTSGRCh37
Build 368120,188,172 - 120,188,298RGDNCBI36
Celera8116,308,344 - 116,308,470RGD
Cytogenetic Map8q23-q24.1UniSTS
HuRef8115,446,645 - 115,446,771UniSTS
GeneMap99-GB4 RH Map8463.74UniSTS
COLEC10_4614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,118,439 - 120,119,277UniSTSGRCh37
Build 368120,187,620 - 120,188,458RGDNCBI36
Celera8116,307,792 - 116,308,630RGD
HuRef8115,446,093 - 115,446,931UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:167
Count of miRNA genes:158
Interacting mature miRNAs:160
Transcripts:ENST00000332843, ENST00000521788
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.


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
High
Medium 3 1 254 252 3 252 2 1 3 4 5 8 1
Low 61 657 735 162 90 163 267 139 73 194 156 988 1 2 239 2
Below cutoff 985 1476 665 146 532 38 1518 523 2565 185 771 515 119 1 507 885

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000332843   ⟹   ENSP00000332723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,067,247 - 119,108,455 (+)Ensembl
RefSeq Acc Id: ENST00000521788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8118,995,452 - 119,103,867 (+)Ensembl
RefSeq Acc Id: NM_001324095   ⟹   NP_001311024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,952,263 - 119,108,455 (+)NCBI
CHM1_18120,005,421 - 120,161,711 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006438   ⟹   NP_006429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,067,247 - 119,108,455 (+)NCBI
GRCh378119,964,527 - 120,119,207 (+)NCBI
Build 368120,148,627 - 120,188,388 (+)NCBI Archive
Celera8116,268,405 - 116,308,560 (+)RGD
HuRef8115,407,207 - 115,446,861 (+)RGD
CHM1_18120,120,440 - 120,161,711 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250756   ⟹   XP_005250813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,952,233 - 119,108,455 (+)NCBI
GRCh378119,964,527 - 120,119,207 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006429   ⟸   NM_006438
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y6Z7 (UniProtKB/Swiss-Prot),   A0A024R9J3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250813   ⟸   XM_005250756
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001311024   ⟸   NM_001324095
- Peptide Label: isoform 2
- UniProtKB: Q9Y6Z7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000332723   ⟸   ENST00000332843
Protein Domains
C-type lectin   Collagen-like

Promoters
RGD ID:7214057
Promoter ID:EPDNEW_H12774
Type:initiation region
Name:COLEC10_3
Description:collectin subfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12770  EPDNEW_H12771  EPDNEW_H12775  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,952,170 - 118,952,230EPDNEW
RGD ID:7214059
Promoter ID:EPDNEW_H12775
Type:initiation region
Name:COLEC10_1
Description:collectin subfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12770  EPDNEW_H12771  EPDNEW_H12774  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,067,247 - 119,067,307EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
NM_006438.3(COLEC10):c.148G>A (p.Gly50Arg) single nucleotide variant Malignant melanoma [RCV000068119] Chr8:119067429 [GRCh38]
Chr8:120079668 [GRCh37]
Chr8:120148849 [NCBI36]
Chr8:8q24.12
not provided
NM_006438.3(COLEC10):c.517C>T (p.Leu173=) single nucleotide variant Malignant melanoma [RCV000068120] Chr8:119105874 [GRCh38]
Chr8:120118113 [GRCh37]
Chr8:120187294 [NCBI36]
Chr8:8q24.12
not provided
NM_006438.3(COLEC10):c.304G>A (p.Glu102Lys) single nucleotide variant Malignant melanoma [RCV000061737] Chr8:119102359 [GRCh38]
Chr8:120114598 [GRCh37]
Chr8:120183779 [NCBI36]
Chr8:8q24.12
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12
likely benign
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 copy number gain See cases [RCV000139886] Chr8:118626991..119703035 [GRCh38]
Chr8:119639230..120715275 [GRCh37]
Chr8:119708411..120784456 [NCBI36]
Chr8:8q24.12
uncertain significance
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 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
nsv513786 deletion Hyperphosphatasemia with bone disease [RCV000007383] Chr8:118920356..119017859 [GRCh38]
Chr8:119932595..120030098 [GRCh37]
Chr8:8q24
pathogenic
GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3 copy number gain See cases [RCV000447347] Chr8:119936372..120651018 [GRCh37]
Chr8:8q24.12
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 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_006438.5(COLEC10):c.228del (p.Gly77fs) deletion 3MC syndrome 3 [RCV000477723] Chr8:119091154 [GRCh38]
Chr8:120103393 [GRCh37]
Chr8:8q24.12
pathogenic
NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp) single nucleotide variant 3MC syndrome 3 [RCV000477667] Chr8:119105885 [GRCh38]
Chr8:120118124 [GRCh37]
Chr8:8q24.12
pathogenic
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) single nucleotide variant 3MC syndrome 3 [RCV000477687] Chr8:119067306 [GRCh38]
Chr8:120079545 [GRCh37]
Chr8:8q24.12
pathogenic
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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
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 8q24.12(chr8:120109439-120111657)x1 copy number loss not provided [RCV000747794] Chr8:120109439..120111657 [GRCh37]
Chr8:8q24.12
benign
NM_006438.5(COLEC10):c.216G>A (p.Pro72=) single nucleotide variant not provided [RCV000965082] Chr8:119089747 [GRCh38]
Chr8:120101986 [GRCh37]
Chr8:8q24.12
benign
NM_006438.5(COLEC10):c.525C>T (p.His175=) single nucleotide variant not provided [RCV000899042] Chr8:119105882 [GRCh38]
Chr8:120118121 [GRCh37]
Chr8:8q24.12
likely benign
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 8q24.12(chr8:120033380-120142448)x1 copy number loss not provided [RCV001006138] Chr8:120033380..120142448 [GRCh37]
Chr8:8q24.12
uncertain significance
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_006438.5(COLEC10):c.346+5G>A single nucleotide variant not provided [RCV000953587] Chr8:119102406 [GRCh38]
Chr8:120114645 [GRCh37]
Chr8:8q24.12
benign
NM_006438.5(COLEC10):c.535C>T (p.Arg179Trp) single nucleotide variant not provided [RCV000880736] Chr8:119105892 [GRCh38]
Chr8:120118131 [GRCh37]
Chr8:8q24.12
likely benign
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
NM_006438.5(COLEC10):c.128_129del (p.Thr43fs) microsatellite 3MC syndrome 3 [RCV001281376] Chr8:119067401..119067402 [GRCh38]
Chr8:120079640..120079641 [GRCh37]
Chr8:8q24.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2220 AgrOrtholog
COSMIC COLEC10 COSMIC
Ensembl Genes ENSG00000184374 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000332723 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000332843 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184374 GTEx
HGNC ID HGNC:2220 ENTREZGENE
Human Proteome Map COLEC10 Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-type_lectin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collectin_CTLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTDL_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10584 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10584 ENTREZGENE
OMIM 248340 OMIM
  607620 OMIM
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lectin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26736 PharmGKB
PROSITE C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CLECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9J3 ENTREZGENE, UniProtKB/TrEMBL
  COL10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q3SYH6 UniProtKB/Swiss-Prot
  Q6UW19 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 COLEC10  collectin subfamily member 10  COLEC10  collectin sub-family member 10 (C-type lectin)  Symbol and/or name change 5135510 APPROVED