| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 3913 |
Name | LAMB2 |
Synonym | LAMS|NPHS5;laminin, beta 2 (laminin S);LAMB2;laminin, beta 2 (laminin S) |
Definition | S-LAM beta|S-laminin subunit beta|laminin B1s chain|laminin S|laminin subunit beta-2 |
Position | 3p21 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
| More detail of all Human literatures about LAMB2 | |
|
Pathways and Diseases |
|
Pathway | Amoebiasis;KEGG PATHWAY;hsa05146 |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | Toxoplasmosis;KEGG PATHWAY;hsa05145 |
Pathway | Small cell lung cancer;KEGG PATHWAY;hsa05222 |
Pathway | ECM-receptor interaction;KEGG PATHWAY;hsa04512 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | Integrin cell surface interactions;Reactome;REACT:13552 |
Disease | Mental retardation;FunDO |
Disease | nephrotic syndrome;GAD |
Disease | Hepatitis C;FunDO |
Disease | Pierson syndrome;OMIM |
Disease | Nephrosis, congenital, with or without ocular abnormalities;OMIM |
Disease | Nephrosis;FunDO |
Disease | RENAL;GAD |
|
External Links |
|
Links to Entrez Gene | 3913 |
Links to all GeneRIF Items | 3913 |
Links to iHOP | 3913 |
|
Sequence Information |
|
Nucleotide Sequence |
>3913 : length: 5397 atggagctgacctcaagggaaagagggaggggacagcctctgccctgggaacttcgactg ggcctactgctaagcgtgctggctgccacactggcacaggcccctgccccggatgtgcct ggctgttccaggggaagctgctaccccgccacgggcgacctgctggtgggccgagctgac agactgactgcctcatccacttgtggcctgaatggcccccagccctactgcatcgtcagt cacctgcaggacgaaaagaagtgcttcctttgtgactcccggcgccccttctctgctaga gacaacccacacagccatcgcatccagaatgtagtcaccagctttgcaccacagcggcgg gcagcctggtggcagtcagagaatggtatccctgcggtcaccatccagctggacctggag gctgagtttcatttcacacacctcattatgaccttcaagacatttcgccctgctgccatg ctggtggaacgctcagcagactttggccgcacctggcatgtgtaccgatatttctcctat gactgtggggctgacttcccaggagtcccactagcacccccacggcactgggatgatgta gtctgtgagtcccgctactcagagattgagccatccactgaaggcgaggtcatctatcgt gtgctggaccctgccatccctatcccagacccctacagctcacggattcagaacctgttg aagatcaccaacctacgggtgaacctgactcgtctacacacgttgggagacaacctactc gacccacggagggagatccgagagaagtactactatgccctctatgagctggttgtacgt ggcaactgcttctgctacggacacgcctcagagtgtgcacccgccccaggggcaccagcc catgctgagggcatggtgcacggagcttgcatctgcaaacacaacacacgtggcctcaac tgcgagcagtgtcaggatttctatcgtgacctgccctggcgtccggctgaggacggccat agtcatgcctgtaggaagtgtgagtgccatgggcacacccacagctgccacttcgacatg gccgtatacctggcatctggcaatgtgagtggaggtgtgtgtgatggatgtcagcataac acagctgggcgccactgtgagctctgtcggcccttcttctaccgtgacccaaccaaggac ctgcgggatccggctgtgtgccgctcctgtgattgtgaccccatgggttctcaagacggt ggtcgctgtgattcccatgatgaccctgcactgggactggtctccggccagtgtcgctgc aaagaacatgtggtgggcactcgctgccagcaatgccgtgatggcttctttgggctcagc atcagtgaccgtctgggctgccggcgatgtcaatgtaatgcacggggcacagtgcctggg agcactccttgtgaccccaacagtggatcctgttactgcaaacgtctagtgactggacgt ggatgtgaccgctgcctgcctggccactggggcctgagccacgacctgctcggctgccgc ccctgtgactgcgacgtgggtggtgctttggatccccagtgtgatgagggcacaggtcaa tgccactgccgccagcacatggttgggcgacgctgtgagcaggtgcaacctggctacttc cggcccttcctggaccacctaatttgggaggctgaggacacccgagggcaggtgctcgat gtggtggagcgcctggtgacccccggggaaactccatcctggactggctcaggcttcgtg cggctacaggaaggtcagaccctggagttcctggtggcctctgtgccgaaggctatggac tatgacctgctgctgcgcttagagccccaggtccctgagcaatgggcagagttggaactg attgtgcagcgtccagggcctgtgcctgcccacagcctgtgtgggcatttggtgcccaag gatgatcgcatccaagggactctgcaaccacatgccaggtacttgatatttcctaatcct gtctgccttgagcctggtatctcctacaagctgcatctgaagctggtacggacaggggga agtgcccagcctgagactccctactctggacctggcctgctcattgactcgctggtgctg ctgccccgtgtcctggtgctagagatgtttagtgggggtgatgctgctgccctggagcgc caggccacctttgaacgctaccaatgccatgaggagggtctggtgcccagcaagacttct ccctctgaggcctgcgcacccctcctcatcagcctgtccaccctcatctacaatggtgcc ctgccatgtcagtgcaaccctcaaggttcactgagttctgagtgcaaccctcatggtggt cagtgcctgtgcaagcctggagtggttgggcgccgctgtgacctctgtgcccctggctac tatggctttggccccacaggctgtcaagcctgccagtgcagccacgagggggcactcagc agtctctgtgaaaagaccagtgggcaatgtctctgtcgaactggtgcctttgggcttcgc tgtgaccgctgccagcgtggccagtggggattccctagctgccggccatgtgtctgcaat gggcatgcagatgagtgcaacacccacacaggcgcttgcctgggctgccgtgatcacaca gggggtgagcactgtgaaaggtgcattgctggtttccacggggacccacggctgccatat gggggccagtgccggccctgtccctgtcctgaaggccctgggagccaacggcactttgct acttcttgccaccaggatgaatattcccagcagattgtgtgccactgccgggcaggctat acggggctgcgatgtgaagcttgtgcccctgggcactttggggacccatcaaggccaggt ggccggtgccaactgtgtgagtgcagtgggaacattgacccaatggatcctgatgcctgt gacccccacacggggcaatgcctgcgctgtttacaccacacagagggtccacactgtgcc cactgcaagcctggcttccatgggcaggctgcccgacagagctgtcaccgctgcacatgc aacctgctgggcacaaatccgcagcagtgcccatctcctgaccagtgccactgtgatcca agcagtgggcagtgcccatgcctccccaatgtccagggccctagctgtgaccgctgtgcc cccaacttctggaacctcaccagtggccatggttgccagccttgtgcctgccacccaagc cgggccagaggccccacctgcaacgagttcacagggcagtgccactgccgtgccggcttt ggagggcggacttgttctgagtgccaagagctccactggggagaccctgggttgcagtgc catgcctgtgattgtgactctcgtggaatagatacacctcagtgtcaccgcttcacaggt cactgcagctgccgcccaggggtgtctggtgtgcgctgtgaccagtgtgcccgtggcttc tcaggaatctttcctgcctgccatccctgccatgcatgcttcggggattgggaccgagtg gtgcaggacttggcagcccgtacacagcgcctagagcagcgggcgcaggagttgcaacag acgggtgtgctgggtgcctttgagagcagcttctggcacatgcaggagaagctgggcatt gtgcagggcatcgtaggtgcccgcaacacctcagccgcctccactgcacagcttgtggag gccacagaggagctgcggcgtgaaattggggaggccactgagcacctgactcagctcgag gcagacctgacagatgtgcaagatgagaacttcaatgccaaccatgcactaagtggtctg gagcgagataggcttgcacttaatctcacactgcggcagctcgaccagcatcttgacttg ctcaaacattcaaacttcctgggtgcctatgacagcatccggcatgcccatagccagtct gcagaggcagaacgtcgtgccaatacctcagccctggcagtacctagccctgtgagcaac tcggcaagtgctcggcatcggacagaggcactgatggatgctcagaaggaggacttcaac agcaaacacatggccaaccagcgggcacttggcaagctctctgcccatacccacaccctg agcctgacagacataaatgagctggtgtgtggggcaccaggggatgcaccctgtgctaca agcccttgtgggggtgccggctgtcgagatgaggatgggcagccgcgctgtgggggcctc agctgcaatggggcagcggctacagcagacctagcactgggccgggcccggcacacacag gcagagctgcagcgggcactggcagaaggtggtagcatcctcagcagagtggctgagact cgtcggcaggcaagcgaggcacagcagcgggcccaggcagccctggacaaggctaatgct tccaggggacaggtggaacaggccaaccaggaacttcaagaacttatccagagtgtgaag gacttcctcaaccaggagggggctgatcctgatagcattgaaatggtggccacacgggtg ctagagctctccatcccagcttcagctgagcagatccagcacctggcgggtgcgattgca gagcgagtccggagcctggcagatgtggatgcgatcctggcacgtactgtaggagatgtg cgtcgtgccgagcagctactgcaggatgcacggcgggcaaggagctgggctgaggatgag aaacagaaggcagagacagtacaggcagcactggaggaggcccagcgggcacagggtatt gcccagggtgccatccggggggcagtggctgacacacgggacacagagcagaccctgtac caggtacaggagaggatggcaggtgcagagcgggcactgagctctgcaggtgaaagggct cggcagttggatgctctcctggaggctctgaaattgaaacgggcaggaaatagtctggca gcctctacagcagaagaaacggcaggcagtgcccagggtcgtgcccaggaggctgagcag ctgctacgcggtcctctgggtgatcagtaccagacggtgaaggccctagctgagcgcaag gcccaaggtgtgctggctgcacaggcaagggcagaacaactgcgggatgaggctcgggac ctgttgcaagccgctcaggacaagctgcagcggctacaggaattggaaggcacctatgag gaaaatgagcgggcactggagagtaaggcagcccagttggacgggttggaggccaggatg cgcagcgtgcttcaagccatcaacttgcaggtgcagatctacaacacctgccagtga |
Protein Sequence |
>3913 : length: 1798 MELTSRERGRGQPLPWELRLGLLLSVLAATLAQAPAPDVPGCSRGSCYPATGDLLVGRAD RLTASSTCGLNGPQPYCIVSHLQDEKKCFLCDSRRPFSARDNPHSHRIQNVVTSFAPQRR AAWWQSENGIPAVTIQLDLEAEFHFTHLIMTFKTFRPAAMLVERSADFGRTWHVYRYFSY DCGADFPGVPLAPPRHWDDVVCESRYSEIEPSTEGEVIYRVLDPAIPIPDPYSSRIQNLL KITNLRVNLTRLHTLGDNLLDPRREIREKYYYALYELVVRGNCFCYGHASECAPAPGAPA HAEGMVHGACICKHNTRGLNCEQCQDFYRDLPWRPAEDGHSHACRKCECHGHTHSCHFDM AVYLASGNVSGGVCDGCQHNTAGRHCELCRPFFYRDPTKDLRDPAVCRSCDCDPMGSQDG GRCDSHDDPALGLVSGQCRCKEHVVGTRCQQCRDGFFGLSISDRLGCRRCQCNARGTVPG STPCDPNSGSCYCKRLVTGRGCDRCLPGHWGLSHDLLGCRPCDCDVGGALDPQCDEGTGQ CHCRQHMVGRRCEQVQPGYFRPFLDHLIWEAEDTRGQVLDVVERLVTPGETPSWTGSGFV RLQEGQTLEFLVASVPKAMDYDLLLRLEPQVPEQWAELELIVQRPGPVPAHSLCGHLVPK DDRIQGTLQPHARYLIFPNPVCLEPGISYKLHLKLVRTGGSAQPETPYSGPGLLIDSLVL LPRVLVLEMFSGGDAAALERQATFERYQCHEEGLVPSKTSPSEACAPLLISLSTLIYNGA LPCQCNPQGSLSSECNPHGGQCLCKPGVVGRRCDLCAPGYYGFGPTGCQACQCSHEGALS SLCEKTSGQCLCRTGAFGLRCDRCQRGQWGFPSCRPCVCNGHADECNTHTGACLGCRDHT GGEHCERCIAGFHGDPRLPYGGQCRPCPCPEGPGSQRHFATSCHQDEYSQQIVCHCRAGY TGLRCEACAPGHFGDPSRPGGRCQLCECSGNIDPMDPDACDPHTGQCLRCLHHTEGPHCA HCKPGFHGQAARQSCHRCTCNLLGTNPQQCPSPDQCHCDPSSGQCPCLPNVQGPSCDRCA PNFWNLTSGHGCQPCACHPSRARGPTCNEFTGQCHCRAGFGGRTCSECQELHWGDPGLQC HACDCDSRGIDTPQCHRFTGHCSCRPGVSGVRCDQCARGFSGIFPACHPCHACFGDWDRV VQDLAARTQRLEQRAQELQQTGVLGAFESSFWHMQEKLGIVQGIVGARNTSAASTAQLVE ATEELRREIGEATEHLTQLEADLTDVQDENFNANHALSGLERDRLALNLTLRQLDQHLDL LKHSNFLGAYDSIRHAHSQSAEAERRANTSALAVPSPVSNSASARHRTEALMDAQKEDFN SKHMANQRALGKLSAHTHTLSLTDINELVCGAPGDAPCATSPCGGAGCRDEDGQPRCGGL SCNGAAATADLALGRARHTQAELQRALAEGGSILSRVAETRRQASEAQQRAQAALDKANA SRGQVEQANQELQELIQSVKDFLNQEGADPDSIEMVATRVLELSIPASAEQIQHLAGAIA ERVRSLADVDAILARTVGDVRRAEQLLQDARRARSWAEDEKQKAETVQAALEEAQRAQGI AQGAIRGAVADTRDTEQTLYQVQERMAGAERALSSAGERARQLDALLEALKLKRAGNSLA ASTAEETAGSAQGRAQEAEQLLRGPLGDQYQTVKALAERKAQGVLAAQARAEQLRDEARD LLQAAQDKLQRLQELEGTYEENERALESKAAQLDGLEARMRSVLQAINLQVQIYNTCQ |