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mutLBSgeneDB |
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| Gene summary for FERMT2 |
 Gene summary |
| Basic gene Info. | Gene symbol | FERMT2 |
| Gene name | fermitin family member 2 | |
| Synonyms | KIND2|MIG2|PLEKHC1|UNC112|UNC112B|mig-2 | |
| Cytomap | UCSC genome browser: 14q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001134999.1, NM_001135000.1,NM_006832.2, | |
| Description | PH domain-containing family C member 1fermitin family homolog 2kindlin 2kindlin-2mitogen inducible gene 2 proteinmitogen-inducible gene 2 proteinpleckstrin homology domain containing, family C (with FERM domain) member 1pleckstrin homology domain c | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607746 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000073712 | ||
| HPRD : 06374 | ||
| Vega : OTTHUMG00000140309 | ||
| Protein | UniProt: Q96AC1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FERMT2 | |
| BioGPS: 10979 | ||
| Pathway | NCI Pathway Interaction Database: FERMT2 | |
| KEGG: FERMT2 | ||
| REACTOME: FERMT2 | ||
| Pathway Commons: FERMT2 | ||
| Context | iHOP: FERMT2 | |
| ligand binding site mutation search in PubMed: FERMT2 | ||
| UCL Cancer Institute: FERMT2 | ||
| 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 |
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| Ligand binding site mutations for FERMT2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V381 | K380E | SKCM | 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 FERMT2 |
| 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 | V381 | K380E | -0.63320378 |
| (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 FERMT2 from PDB |
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| Differential gene expression and gene-gene network for FERMT2 |
| 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 FERMT2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0005695 | Urinary Bladder Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FERMT2 |
| 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 FERMT2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4IP | INOSITOL 1,3,4,5-TETRAKISPHOSPHATE | 2lko | A | V381 |
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| Conservation information for LBS of FERMT2 |
| Multiple alignments for Q96AC1 in multiple species |
| LBS | AA sequence | # species | Species | H419 | SGTPAHQMNLR | 1 | Homo sapiens | H419 | NSAPLGHFSLK | 1 | Caenorhabditis elegans | H419 | RGAPTISINLK | 1 | Drosophila melanogaster | H419 | HGTPAHQMNLR | 1 | Danio rerio | H419 | SGTPAHQLNLR | 1 | Mus musculus | K383 | YIKVFKPKKL- | 2 | Homo sapiens, Mus musculus | K383 | YLKYMKPKKLA | 1 | Caenorhabditis elegans | K383 | YLKFLKPQRF- | 1 | Drosophila melanogaster | K383 | YVKVFKPKKL- | 1 | Danio rerio | K385 | KVFKPKKL-TL | 3 | Homo sapiens, Danio rerio, Mus musculus | K385 | KYMKPKKLAAF | 1 | Caenorhabditis elegans | K385 | KFLKPQRF-TL | 1 | Drosophila melanogaster | K390 | KL-TLKGYKQY | 3 | Homo sapiens, Danio rerio, Mus musculus | K390 | KLAAFKGFKRA | 1 | Caenorhabditis elegans | K390 | RF-TLKGYKRY | 1 | Drosophila melanogaster | K393 | TLKGYKQYWCT | 3 | Homo sapiens, Danio rerio, Mus musculus | K393 | AFKGFKRAFFS | 1 | Caenorhabditis elegans | K393 | TLKGYKRYFFT | 1 | Drosophila melanogaster | L389 | KKL-TLKGYKQ | 3 | Homo sapiens, Danio rerio, Mus musculus | L389 | KKLAAFKGFKR | 1 | Caenorhabditis elegans | L389 | QRF-TLKGYKR | 1 | Drosophila melanogaster | V381 | ADYIKVFKPKK | 2 | Homo sapiens, Mus musculus | V381 | ADYLKYMKPKK | 1 | Caenorhabditis elegans | V381 | SDYLKFLKPQR | 1 | Drosophila melanogaster | V381 | ADYVKVFKPKK | 1 | Danio rerio |
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