mutLBSgeneDB |
Gene summary for HBG2 |
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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. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for HBG2 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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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 |
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Phenotype information for HBG2 |
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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 |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HBG2 |
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Drug status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of HBG2 |
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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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