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mutLBSgeneDB |
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| Gene summary for SH2D1A |
 Gene summary |
| Basic gene Info. | Gene symbol | SH2D1A |
| Gene name | SH2 domain containing 1A | |
| Synonyms | DSHP|EBVS|IMD5|LYP|MTCP1|SAP|SAP/SH2D1A|XLP|XLPD|XLPD1 | |
| Cytomap | UCSC genome browser: Xq25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001114937.2, NM_002351.4, | |
| Description | Duncan disease SH2-proteinSH2 domain-containing protein 1ASLAM associated protein/SH2 domain protein 1ASLAM-associated proteinT cell signal transduction molecule SAPT-cell signal transduction molecule SAPsignaling lymphocyte activation molecule-asso | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 300490 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000183918 | ||
| HPRD : 02390 | ||
| Vega : OTTHUMG00000022344 | ||
| Protein | UniProt: O60880 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SH2D1A | |
| BioGPS: 4068 | ||
| Pathway | NCI Pathway Interaction Database: SH2D1A | |
| KEGG: SH2D1A | ||
| REACTOME: SH2D1A | ||
| Pathway Commons: SH2D1A | ||
| Context | iHOP: SH2D1A | |
| ligand binding site mutation search in PubMed: SH2D1A | ||
| UCL Cancer Institute: SH2D1A | ||
| 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:0007267 | cell-cell signaling | 9774102 |
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| Ligand binding site mutations for SH2D1A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V72,K74 | H73Y | BLCA | 1 | E17 | E17K | COAD | 1 | V37 | V37L | LUAD | 1 | E17 | G16C | LUAD | 1 | Q92 | Q92K | LUSC | 1 | A66 | W64C | LUSC | 1 | V72 | V72A | STAD | 1 | S36 | S36N | UCEC | 1 | V72 | V72I | 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 SH2D1A |
| 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 | E17 | G16C | 0.058924565 | K74 | H73Y | 0.000358827 | V72 | H73Y | 0.000358827 | V72 | V72A | -1.7005905 | S36 | S36N | -1.1804925 | V72 | V72I | -1.1192438 | Q92 | Q92K | -0.89293426 | V37 | V37L | -0.81101006 | E17 | E17K | -0.73559605 | A66 | W64C | -0.34403528 |
| (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 SH2D1A from PDB |
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| Differential gene expression and gene-gene network for SH2D1A |
| 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 SH2D1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0549463 | X-Linked Lymphoproliferative Syndrome | 114 | Biomarker, GeneticVariation |
| umls:C0024314 | Lymphoproliferative Disorders | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SH2D1A |
| 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 SH2D1A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,SER,LEU,THR,ILE,TYR,ALA,GLN,VAL,GLN,LYS) | 1d4t | A | E17 A66 V72 | III | Peptide ligand (LYS,SER,LEU,THR,ILE,TYR,ALA,GLN,VAL,GLN,LYS) | 1m27 | A | E17 A66 V72 | III | Peptide ligand (ARG,LYS,SER,LEU,THR,ILE,TYR,ALA,GLN,VAL,GLN,LYS) | 1ka7 | A | E17 A66 V72 K74 | III | Peptide ligand (SER,LEU,THR,ILE,TYR,ALA,GLN,VAL,GLN,LYS) | 1d4w | A | E17 S36 A66 V72 Q92 | III | Peptide ligand (SER,LEU,THR,ILE,TYR,ALA,GLN,VAL,GLN,LYS) | 1d4w | B | E17 S36 A66 V72 Q92 | III | Peptide ligand (ARG,LYS,SER,LEU,THR,ILE,TYR,ALA,NH2) | 1ka6 | A | E17 S36 V37 |
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| Conservation information for LBS of SH2D1A |
| Multiple alignments for O60880 in multiple species |
| LBS | AA sequence | # species | Species | A66 | TGSWSAETAPG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | A69 | WSAETAPGVHK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | C42 | VPGVYCLCVLY | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | D91 | AFQKPDQGIVI | 3 | Homo sapiens, Macaca mulatta, Bos taurus | D91 | AFQKPDQGIVT | 2 | Mus musculus, Rattus norvegicus | E14 | GKISRETGEKL | 4 | Homo sapiens, Mus musculus, Macaca mulatta, Bos taurus | E14 | GKISREMGEKL | 1 | Rattus norvegicus | E17 | SRETGEKLLLA | 4 | Homo sapiens, Mus musculus, Macaca mulatta, Bos taurus | E17 | SREMGEKLLLA | 1 | Rattus norvegicus | E35 | LLRDSESVPGV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | E67 | GSWSAETAPGV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | F87 | NLISAFQKPDQ | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | G49 | CVLYQGYIYTY | 3 | Mus musculus, Rattus norvegicus, Bos taurus | G49 | CVLYHGYIYTY | 2 | Homo sapiens, Macaca mulatta | G93 | QKPDQGIVIPL | 3 | Homo sapiens, Macaca mulatta, Bos taurus | G93 | QKPDQGIVTPL | 2 | Mus musculus, Rattus norvegicus | I51 | LYQGYIYTYRV | 3 | Mus musculus, Rattus norvegicus, Bos taurus | I51 | LYHGYIYTYRV | 2 | Homo sapiens, Macaca mulatta | I94 | KPDQGIVIPLQ | 3 | Homo sapiens, Macaca mulatta, Bos taurus | I94 | KPDQGIVTPLQ | 2 | Mus musculus, Rattus norvegicus | K18 | RETGEKLLLAT | 4 | Homo sapiens, Mus musculus, Macaca mulatta, Bos taurus | K18 | REMGEKLLLAT | 1 | Rattus norvegicus | K74 | APGVHKRFFRK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | K74 | APGVHKRYFRK | 2 | Homo sapiens, Macaca mulatta | L21 | GEKLLLATGLD | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | P70 | SAETAPGVHKR | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | Q92 | FQKPDQGIVIP | 3 | Homo sapiens, Macaca mulatta, Bos taurus | Q92 | FQKPDQGIVTP | 2 | Mus musculus, Rattus norvegicus | R13 | HGKISRETGEK | 4 | Homo sapiens, Mus musculus, Macaca mulatta, Bos taurus | R13 | HGKISREMGEK | 1 | Rattus norvegicus | R32 | GSYLLRDSESV | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | R55 | YIYTYRVSQTE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | R75 | PGVHKRYFRKI | 2 | Homo sapiens, Macaca mulatta | R75 | PGVHKRFFRKV | 2 | Mus musculus, Rattus norvegicus | R75 | PGVHKRFFRKI | 1 | Bos taurus | S34 | YLLRDSESVPG | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | S36 | LRDSESVPGVY | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | T53 | QGYIYTYRVSQ | 3 | Mus musculus, Rattus norvegicus, Bos taurus | T53 | HGYIYTYRVSQ | 2 | Homo sapiens, Macaca mulatta | T68 | SWSAETAPGVH | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | V37 | RDSESVPGVYC | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus | V72 | ETAPGVHKRFF | 3 | Mus musculus, Rattus norvegicus, Bos taurus | V72 | ETAPGVHKRYF | 2 | Homo sapiens, Macaca mulatta | Y50 | VLYQGYIYTYR | 3 | Mus musculus, Rattus norvegicus, Bos taurus | Y50 | VLYHGYIYTYR | 2 | Homo sapiens, Macaca mulatta | Y52 | YQGYIYTYRVS | 3 | Mus musculus, Rattus norvegicus, Bos taurus | Y52 | YHGYIYTYRVS | 2 | Homo sapiens, Macaca mulatta | Y54 | GYIYTYRVSQT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Macaca mulatta, Bos taurus |
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