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mutLBSgeneDB |
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| Gene summary for COLEC12 |
 Gene summary |
| Basic gene Info. | Gene symbol | COLEC12 |
| Gene name | collectin sub-family member 12 | |
| Synonyms | CLP1|NSR2|SCARA4|SRCL | |
| Cytomap | UCSC genome browser: 18p11.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_130386.2, NM_030781.2, | |
| Description | collectin placenta protein 1collectin-12hCL-P1nurse cell scavenger receptor 2scavenger receptor class A, member 4scavenger receptor with C-type lectin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607621 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158270 | ||
| HPRD : 06358 | ||
| Vega : OTTHUMG00000178145 | ||
| Protein | UniProt: Q5KU26 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COLEC12 | |
| BioGPS: 81035 | ||
| Pathway | NCI Pathway Interaction Database: COLEC12 | |
| KEGG: COLEC12 | ||
| REACTOME: COLEC12 | ||
| Pathway Commons: COLEC12 | ||
| Context | iHOP: COLEC12 | |
| ligand binding site mutation search in PubMed: COLEC12 | ||
| UCL Cancer Institute: COLEC12 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0002221 | pattern recognition receptor signaling pathway | 11564734 | GO:0006910 | phagocytosis, recognition | 11564734 |
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| Ligand binding site mutations for COLEC12 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F644 | L642V | LUSC | 1 | D616 | F614V | STAD | 1 | D696,Q694 | P695Q | STAD | 1 | E674 | R673L | STAD | 1 | E674 | N675H | UCEC | 1 | E674 | E674K | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for COLEC12 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | F644 | L642V | -1.3228568 | Q694 | P695Q | -1.0150019 | D696 | P695Q | -1.0150019 | E674 | E674K | -0.89774654 | E674 | R673L | -0.71681249 | E674 | N675H | -0.69501652 | D616 | F614V | -0.39512778 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for COLEC12 from PDB |
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| Differential gene expression and gene-gene network for COLEC12 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for COLEC12 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for COLEC12 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of COLEC12 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2ox8 | A | D616 | ZN | ZINC(2+) | 2ox8 | B | D616 | ZN | ZINC(2+) | 2ox8 | A | E674 | ZN | ZINC(2+) | 2ox8 | B | E674 | CA | CALCIUM(2+) | 2ox8 | C | E674 | CA | CALCIUM(2+) | 2ox8 | C | E674 | CA | CALCIUM(2+) | 2ox8 | D | E674 | CA | CALCIUM(2+) | 2ox8 | D | E674 | ZN | ZINC(2+) | 2ox8 | A | F644 | ZN | ZINC(2+) | 2ox8 | B | F644 | ZN | ZINC(2+) | 2ox8 | C | F644 | ZN | ZINC(2+) | 2ox8 | D | F644 | CA | CALCIUM(2+) | 2ox8 | C | Q694 D696 | CA | CALCIUM(2+) | 2ox8 | D | Q694 D696 |
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| Conservation information for LBS of COLEC12 |
| Multiple alignments for Q5KU26 in multiple species |
| LBS | AA sequence | # species | Species | D148 | GDALVDRQSQL | 2 | Homo sapiens, Bos taurus | D148 | GDSLVDRQSQL | 2 | Mus musculus, Rattus norvegicus | D148 | GEDMQSGHLSL | 1 | Danio rerio | D148 | GNVLDDRQSQI | 1 | Gallus gallus | D616 | WKNFTDKCYYF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D616 | WKGFREQCYHF | 1 | Danio rerio | D616 | WKNYTEKCYYF | 1 | Gallus gallus | D670 | WIGLTDSEQES | 2 | Mus musculus, Rattus norvegicus | D670 | WIGLTDSEREN | 1 | Homo sapiens | D670 | WLGL------- | 1 | Danio rerio | D670 | WIGLTDSEKEN | 1 | Gallus gallus | D670 | WIGLTDLEQEN | 1 | Bos taurus | D696 | KAGQPDNWGHG | 2 | Homo sapiens, Bos taurus | D696 | KAGQPDNWGSG | 2 | Mus musculus, Rattus norvegicus | D696 | KPGQPDNWSHG | 1 | Danio rerio | D696 | KTGQPDNWNHG | 1 | Gallus gallus | D707 | HGPGEDCAGLI | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | D707 | HEAGEDCAGLI | 1 | Danio rerio | D719 | AGQWNDFQCDE | 2 | Mus musculus, Rattus norvegicus | D719 | AGQWNDFQCED | 1 | Homo sapiens | D719 | EASWNDFFCTE | 1 | Danio rerio | D719 | AGLWNDFYCED | 1 | Gallus gallus | D719 | FGQWNDFPCED | 1 | Bos taurus | E650 | INSREEQQWIK | 2 | Mus musculus, Rattus norvegicus | E650 | INTREEQQWIK | 1 | Homo sapiens | E650 | INDEEEQLWIK | 1 | Danio rerio | E650 | INNKEEQQWIK | 1 | Gallus gallus | E650 | INTGEEQQWIK | 1 | Bos taurus | E662 | QMVGRESHWIG | 1 | Homo sapiens | E662 | QISGKGYFWLG | 1 | Danio rerio | E662 | QISGKGSFWIG | 1 | Gallus gallus | E662 | QMVAKQNYWIG | 1 | Bos taurus | E662 | HTVGRESHWIG | 1 | Mus musculus | E662 | QTMGRESHWIG | 1 | Rattus norvegicus | E674 | TDSEQESEWKW | 2 | Mus musculus, Rattus norvegicus | E674 | TDSERENEWKW | 1 | Homo sapiens | E674 | ----------- | 1 | Danio rerio | E674 | TDSEKENEWRW | 1 | Gallus gallus | E674 | TDLEQENEWRW | 1 | Bos taurus | E706 | GHGPGEDCAGL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E706 | GHEAGEDCAGL | 1 | Danio rerio | E731 | NNFICEKEREA | 2 | Mus musculus, Rattus norvegicus | E731 | NNFICEKDRET | 1 | Homo sapiens | E731 | IGFICERTNES | 1 | Danio rerio | E731 | NNFICEKDMDK | 1 | Gallus gallus | E731 | NHFICEKDRER | 1 | Bos taurus | F644 | SSHLVFINSRE | 2 | Mus musculus, Rattus norvegicus | F644 | SSHLVFINTRE | 1 | Homo sapiens | F644 | SSSMLIINDEE | 1 | Danio rerio | F644 | ASRLVIINNKE | 1 | Gallus gallus | F644 | SSHLVFINTGE | 1 | Bos taurus | H664 | VGRESHWIGLT | 2 | Homo sapiens, Mus musculus | H664 | SGKGYFWLGL- | 1 | Danio rerio | H664 | SGKGSFWIGLT | 1 | Gallus gallus | H664 | VAKQNYWIGLT | 1 | Bos taurus | H664 | MGRESHWIGLT | 1 | Rattus norvegicus | H702 | NWGHGHGPGED | 2 | Homo sapiens, Bos taurus | H702 | NWGSGHGPGED | 2 | Mus musculus, Rattus norvegicus | H702 | NWSHGHEAGED | 1 | Danio rerio | H702 | NWNHGHGPGED | 1 | Gallus gallus | N697 | AGQPDNWGHGH | 2 | Homo sapiens, Bos taurus | N697 | AGQPDNWGSGH | 2 | Mus musculus, Rattus norvegicus | N697 | PGQPDNWSHGH | 1 | Danio rerio | N697 | TGQPDNWNHGH | 1 | Gallus gallus | N718 | YAGQWNDFQCD | 2 | Mus musculus, Rattus norvegicus | N718 | YAGQWNDFQCE | 1 | Homo sapiens | N718 | HEASWNDFFCT | 1 | Danio rerio | N718 | YAGLWNDFYCE | 1 | Gallus gallus | N718 | NFGQWNDFPCE | 1 | Bos taurus | P704 | GHGHGPGEDCA | 2 | Homo sapiens, Bos taurus | P704 | GSGHGPGEDCA | 2 | Mus musculus, Rattus norvegicus | P704 | SHGHEAGEDCA | 1 | Danio rerio | P704 | NHGHGPGEDCA | 1 | Gallus gallus | Q694 | NWKAGQPDNWG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q694 | KWKPGQPDNWS | 1 | Danio rerio | Q694 | NWKTGQPDNWN | 1 | Gallus gallus | W677 | EQESEWKWLDG | 2 | Mus musculus, Rattus norvegicus | W677 | ERENEWKWLDG | 1 | Homo sapiens | W677 | ----------- | 1 | Danio rerio | W677 | EKENEWRWLDG | 1 | Gallus gallus | W677 | EQENEWRWLDG | 1 | Bos taurus |
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