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mutLBSgeneDB |
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| Gene summary for CISD2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CISD2 |
| Gene name | CDGSH iron sulfur domain 2 | |
| Synonyms | ERIS|Miner1|NAF-1|WFS2|ZCD2 | |
| Cytomap | UCSC genome browser: 4q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001008388.4, | |
| Description | CDGSH iron-sulfur domain-containing protein 2endoplasmic reticulum intermembrane small proteinmitoNEET-related 1 proteinnutrient-deprivation autophagy factor-1zinc finger, CDGSH-type domain 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611507 | |
| HGNC : HGNC | ||
| HPRD : 17413 | ||
| Protein | UniProt: Q8N5K1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CISD2 | |
| BioGPS: 493856 | ||
| Pathway | NCI Pathway Interaction Database: CISD2 | |
| KEGG: CISD2 | ||
| REACTOME: CISD2 | ||
| Pathway Commons: CISD2 | ||
| Context | iHOP: CISD2 | |
| ligand binding site mutation search in PubMed: CISD2 | ||
| UCL Cancer Institute: CISD2 | ||
| 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 CISD2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S104 | T106M | UCEC | 1 | C110 | A109V | 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 CISD2 |
| 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 | S104 | T106M | -0.48382993 | C110 | A109V | -0.33332828 |
| (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 CISD2 from PDB |
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| Differential gene expression and gene-gene network for CISD2 |
| 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 CISD2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1858028 | Wolfram Syndrome 2 | 3 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CISD2 |
| 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 CISD2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FES | DI-MU-SULFIDO-DIIRON | 3fnv | A | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 3fnv | B | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4oo7 | A | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4oo7 | B | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | A | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | B | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | C | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | D | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | E | S104 C110 | FES | DI-MU-SULFIDO-DIIRON | 4ooa | F | S104 C110 |
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| Conservation information for LBS of CISD2 |
| Multiple alignments for Q8N5K1 in multiple species |
| LBS | AA sequence | # species | Species | C101 | AAYCRCWRSKT | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | C101 | AAFCRCWKTKN | 1 | Drosophila melanogaster | C101 | VCYCRCWRSKT | 1 | Danio rerio | C110 | KTFPACDGSHN | 3 | Homo sapiens, Bos taurus, Mus musculus | C110 | KNWPYCDGSHG | 1 | Drosophila melanogaster | C110 | KTFPVCDKSHI | 1 | Danio rerio | C110 | KTFPVCDGSHN | 1 | Xenopus tropicalis | C99 | TKAAYCRCWRS | 3 | Homo sapiens, Bos taurus, Mus musculus | C99 | EKAAFCRCWKT | 1 | Drosophila melanogaster | C99 | PNVCYCRCWRS | 1 | Danio rerio | C99 | AKAAYCRCWRS | 1 | Xenopus tropicalis | D111 | TFPACDGSHNK | 3 | Homo sapiens, Bos taurus, Mus musculus | D111 | NWPYCDGSHGE | 1 | Drosophila melanogaster | D111 | TFPVCDKSHIK | 1 | Danio rerio | D111 | TFPVCDGSHNK | 1 | Xenopus tropicalis | G112 | FPACDGSHNKH | 3 | Homo sapiens, Bos taurus, Mus musculus | G112 | WPYCDGSHGEH | 1 | Drosophila melanogaster | G112 | FPVCDKSHIKH | 1 | Danio rerio | G112 | FPVCDGSHNKH | 1 | Xenopus tropicalis | G126 | TGDNVGPLILK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | G126 | TGDNVGPIVIK | 1 | Drosophila melanogaster | H114 | ACDGSHNKHNE | 3 | Homo sapiens, Bos taurus, Mus musculus | H114 | YCDGSHGEHNK | 1 | Drosophila melanogaster | H114 | VCDKSHIKHNE | 1 | Danio rerio | H114 | VCDGSHNKHNE | 1 | Xenopus tropicalis | P127 | GDNVGPLILKK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | P127 | GDNVGPIVIKK | 1 | Drosophila melanogaster | R100 | KAAYCRCWRSK | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | R100 | KAAFCRCWKTK | 1 | Drosophila melanogaster | R100 | NVCYCRCWRSK | 1 | Danio rerio | S104 | CRCWRSKTFPA | 3 | Homo sapiens, Bos taurus, Mus musculus | S104 | CRCWRSKTFPV | 2 | Danio rerio, Xenopus tropicalis | S104 | CRCWKTKNWPY | 1 | Drosophila melanogaster | S113 | PACDGSHNKHN | 3 | Homo sapiens, Bos taurus, Mus musculus | S113 | PYCDGSHGEHN | 1 | Drosophila melanogaster | S113 | PVCDKSHIKHN | 1 | Danio rerio | S113 | PVCDGSHNKHN | 1 | Xenopus tropicalis |
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