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mutLBSgeneDB |
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| Gene summary for HBG2 |
 Gene summary |
| Basic gene Info. | Gene symbol | HBG2 |
| Gene name | hemoglobin, gamma G | |
| Synonyms | HBG-T1|TNCY | |
| Cytomap | UCSC genome browser: 11p15.5 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000184.2, | |
| Description | G-gamma globin Pauliniaabnormal hemoglobingamma-2-globinhb F Ggammahemoglobin gamma-2 chainhemoglobin gamma-G chainhemoglobin subunit gamma-2methemoglobin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142250 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196565 | ||
| HPRD : 00792 | ||
| Protein | UniProt: P69892 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HBG2 | |
| BioGPS: 3048 | ||
| Pathway | NCI Pathway Interaction Database: HBG2 | |
| KEGG: HBG2 | ||
| REACTOME: HBG2 | ||
| Pathway Commons: HBG2 | ||
| Context | iHOP: HBG2 | |
| ligand binding site mutation search in PubMed: HBG2 | ||
| UCL Cancer Institute: HBG2 | ||
| 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 HBG2 |
| 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 | L92 | E91K | SKCM | 3 | N103 | E102D | COAD | 1 | F104 | F104L | GBM | 1 | F86 | A87T | HNSC | 1 | V99 | D100Y | LUAD | 1 | L97,V99 | H98L | LUAD | 1 | L142,V138 | S140T | LUSC | 1 | L89 | Q88R | LUSC | 1 | V99 | V99M | PRAD | 1 | S71 | S71F | SKCM | 1 | L72 | D74N | SKCM | 1 | F86 | A87V | SKCM | 1 | N103,V99 | P101S | 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 HBG2 |
| 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 | F86 | A87V | 0.047926862 | N103 | E102D | -1.2921906 | N103 | P101S | -1.0422776 | V99 | P101S | -1.0422776 | L92 | E91K | -0.98473334 | V99 | V99M | -0.93036196 | S71 | S71F | -0.90600167 | L72 | D74N | -0.77557175 | V99 | D100Y | -0.72426468 | L89 | Q88R | -0.49585453 | F86 | A87T | -0.26425548 | L97 | H98L | -0.18953887 | V99 | H98L | -0.18953887 | V138 | S140T | -0.14104006 | L142 | S140T | -0.14104006 | F104 | F104L | -0.0218006 |
| (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 HBG2 from PDB |
| PDB ID | PDB title | PDB structure | 1FDH | STRUCTURE OF HUMAN FOETAL DEOXYHAEMOGLOBIN |  |
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| Differential gene expression and gene-gene network for HBG2 |
| 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 HBG2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3151421 | CYANOSIS, TRANSIENT NEONATAL | 4 | Biomarker, GeneticVariation |
| umls:C2609414 | Acute Kidney Injury | 2 | Biomarker |
| umls:C0028961 | Oliguria | 1 | Biomarker |
| umls:C0033578 | Prostatic 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 HBG2 |
| 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 HBG2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of HBG2 |
| Multiple alignments for P69892 in multiple species |
| LBS | AA sequence | # species | Species | F104 | VDPENFKLLGN | 3 | Homo sapiens, Mus musculus, Pan troglodytes | F104 | VDPENFKRLAD | 1 | Xenopus tropicalis | F104 | VDPENFRLLGN | 1 | Macaca mulatta | F42 | PWTQRFFDSFG | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | F42 | PWTQRYFSSFG | 1 | Xenopus tropicalis | F43 | WTQRFFDSFGN | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | F43 | WTQRYFSSFGN | 1 | Xenopus tropicalis | F86 | DLKGTFAQLSE | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | F86 | DVKSHLKGLSK | 1 | Xenopus tropicalis | F86 | NLKSALAKLSE | 1 | Mus musculus | H64 | PKVKAHGKKVL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | H64 | VKVKAHGNKVL | 1 | Xenopus tropicalis | H64 | PRVKAHGKKVL | 1 | Mus musculus | H93 | QLSELHCDKLH | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | H93 | GLSKSHAEDLH | 1 | Xenopus tropicalis | H93 | KLSELHCDKLH | 1 | Mus musculus | K67 | KAHGKKVLTSL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | K67 | KAHGNKVLSAV | 1 | Xenopus tropicalis | K67 | KAHGKKVLTAF | 1 | Mus musculus | L107 | ENFKLLGNVLV | 3 | Homo sapiens, Mus musculus, Pan troglodytes | L107 | ENFKRLADVLV | 1 | Xenopus tropicalis | L107 | ENFRLLGNVLV | 1 | Macaca mulatta | L142 | GVASALSSRYH | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L142 | TLVAALSHGYF | 1 | Xenopus tropicalis | L142 | GVATALSHKYH | 1 | Mus musculus | L72 | KVLTSLGDAIK | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L72 | KVLSAVGSAIQ | 1 | Xenopus tropicalis | L72 | KVLTAFGESIK | 1 | Mus musculus | L89 | GTFAQLSELHC | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L89 | SHLKGLSKSHA | 1 | Xenopus tropicalis | L89 | SALAKLSELHC | 1 | Mus musculus | L92 | AQLSELHCDKL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L92 | KGLSKSHAEDL | 1 | Xenopus tropicalis | L92 | AKLSELHCDKL | 1 | Mus musculus | L97 | LHCDKLHVDPE | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | L97 | SHAEDLHVDPE | 1 | Xenopus tropicalis | N103 | HVDPENFKLLG | 3 | Homo sapiens, Mus musculus, Pan troglodytes | N103 | HVDPENFKRLA | 1 | Xenopus tropicalis | N103 | HVDPENFRLLG | 1 | Macaca mulatta | S71 | KKVLTSLGDAI | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | S71 | NKVLSAVGSAI | 1 | Xenopus tropicalis | S71 | KKVLTAFGESI | 1 | Mus musculus | T39 | VVYPWTQRFFD | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | T39 | VVYPWTQRYFS | 1 | Xenopus tropicalis | V138 | KMVTGVASALS | 2 | Homo sapiens, Pan troglodytes | V138 | KLNATLVAALS | 1 | Xenopus tropicalis | V138 | KLVAGVATALS | 1 | Mus musculus | V138 | KMVAGVASALS | 1 | Macaca mulatta | V68 | AHGKKVLTSLG | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | V68 | AHGNKVLSAVG | 1 | Xenopus tropicalis | V68 | AHGKKVLTAFG | 1 | Mus musculus | V99 | CDKLHVDPENF | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | V99 | AEDLHVDPENF | 1 | Xenopus tropicalis |
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