| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 6711 |
Name | SPTBN1 |
Synonym | ELF|HEL102|SPTB2|betaSpII;spectrin, beta, non-erythrocytic 1;SPTBN1;spectrin, beta, non-erythrocytic 1 |
Definition | beta-G spectrin|beta-II spectrin|beta-fodrin|beta-spectrin 2|beta-spectrin II|beta-spectrin non-erythrocytic 1|embryonic liver beta-fodrin|epididymis luminal protein 102|fodrin beta chain|spectrin beta chain, brain 1|spectrin beta chain, non-erythrocytic |
Position | 2p21 |
Gene Type | protein-coding |
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TSG scores |
Description |
| TUSON ranking | 15725 |
TUSON P-value | 1 |
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Pathways and Diseases |
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Pathway | Interactions of the immunoglobulin superfamily (IgSF) member proteins;Reactome;REACT:23853 |
Pathway | Axon guidance;Reactome;REACT:18266 |
Pathway | TGF-beta receptor signaling;PID Curated;200195 |
Disease | Bone mineral density (spine);GAD |
Disease | METABOLIC;GAD |
Disease | Bone mineral density (spine);NHGRI |
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External Links |
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Links to Entrez Gene | 6711 |
Links to all GeneRIF Items | 6711 |
Links to iHOP | 6711 |
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Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>6711 : length: 7095 atgacgaccacagtagccacagactatgacaacattgagatccagcagcagtacagtgat gtcaacaaccgctgggatgtcgacgactgggacaatgagaacagctctgcgcggcttttt gagcggtcccgcatcaaggctctggcagatgagcgtgaagccgtgcagaagaagaccttc accaagtgggtcaattcccaccttgcccgtgtgtcctgccggatcacagacctgtacact gaccttcgagatggacggatgctcatcaagctgctggaggtcctctctggagagaggctg cctaaacccaccaagggacgaatgcgcatccactgcttagagaatgtggacaaggccctt cagttcctgaaggagcagagagtccatcttgagaacatggggtcccatgacatcgtggat ggaaaccaccggctgacccttggcctcatctggaccatcatcctgcgcttccagatccag gatatcagtgtggaaactgaagacaacaaagagaagaaatctgccaaggatgcattgctg ttgtggtgccagatgaagacagctgggtaccccaatgtcaacattcacaatttcaccact agctggagggacggcatggccttcaatgcactgatacacaaacaccggcctgacctgata gattttgacaaactaaagaaatctaacgcacactacaacctgcagaatgcatttaatctg gcagaacagcacctcggcctcactaaactgttggaccccgaagacatcagcgtggaccat cctgatgagaagtccataatcacttatgtggtgacttattaccactacttctctaagatg aaggccttagctgttgaaggaaaacgaattggaaaggtgcttgacaatgctattgaaaca gaaaaaatgattgaaaagtatgaatcacttgcctctgaccttctggaatggattgaacaa accatcatcattctgaacaatcgcaaatttgccaattcactggtcggggttcaacagcag cttcaggcattcaacacttaccgcactgtggagaaaccacccaaatttactgagaagggg aacttggaagtgctgctcttcaccattcagagcaagatgagggccaacaaccagaaggtc tacatgccccgggaggggaagctcatctctgacatcaacaaggcctgggaaagactggaa aaagcggaacacgaaagagaactggctttgcggaatgagctcataagacaggagaaactg gaacagctcgcccgcagatttgatcgcaaggcagctatgagggagacttggctgagcgaa aaccagcgtctggtgtctcaggacaactttgggtttgaccttcctgcagttgaggccgcc acaaaaaagcacgaggccattgagacagacattgccgcatacgaggagcgtgtgcaggct gtggtagccgtggccagggagctcgaggccgagaattaccacgacatcaagcgcatcaca gcgaggaaggacaatgtcatccggctctgggaatacctactggaactgctcagggcccgg agacagcggctcgagatgaacctggggctgcagaagatattccaggaaatgctctacatt atggactggatggatgaaatgaaggtgctagtattgtctcaagactatggcaaacactta cttggtgtggaagacctgttacagaagcacaccctggttgaagcagacattggcatccag gcagagcgggtgagaggtgtcaatgcctccgcccagaagttcgcaacagacggggaaggt tacaagccctgtgacccccaggtgatccgagaccgcgtggcccacatggagttctgttat caagagctttgccagctggcggctgagcgcagggcccgtctggaagagtcccgccgcctc tggaagttcttctgggagatggcagaagaggaaggctggatacgggagaaggagaagatc ctgtcctcggacgattacgggaaagacctgaccagcgtcatgcgcctgctcagcaagcac cgggcgttcgaggacgagatgagcggccgcagtggccactttgagcaggccatcaaggaa ggcgaagacatgatcgcggaggagcacttcgggtcggagaagatccgtgagaggatcatt tacatccgggagcagtgggccaacctagagcagctctcggccattcggaagaagcgcctg gaggaggcctccctgctgcaccagttccaggcagatgctgatgacattgatgcctggatg ctggacatcctcaagattgtctccagcagcgacgtgggccacgatgagtattccacacag tctctggtcaagaaacacaaggacgtggcggaagagatcgccaattacaggcccaccctt gacacgctgcacgaacaagccagcgccctcccccaggagcatgccgagtctccagacgtg aggggcaggctgtcgggcatcgaggagcggtataaggaggtggcagagctgacgcggctg cggaagcaggcactccaggacactctggccctgtacaagatgttcagcgaggctgatgcc tgtgagctctggatcgacgagaaggagcagtggctcaacaacatgcagatcccagagaag ctggaggatctggaggtcatccagcacagatttgagagcctagaaccagaaatgaacaac caggcttcccgggttgcagtggtgaaccagattgcacgccagctgatgcacagcggccac ccaagtgagaaggaaatcaaagcccagcaggacaaactcaacacaaggtggagccagttc agagaactggttgacaggaagaaggatgccctcctgtctgccctgagcatccagaactac cacctcgagtgcaatgaaaccaaatcctggattcgggaaaagaccaaggtcatcgagtcc acccaggacctgggcaatgacctggctggcgtcatggccctgcagcgcaagctgaccggc atggagcgggacttggtggccattgaggcaaagctgagtgacctgcagaaggaggcggag aagctggagtccgagcaccccgaccaggcccaggccatcctgtctcggctggccgagatc agcgacgtgtgggaggagatgaagaccaccctgaaaaaccgagaggcctccctgggagag gccagcaagctgcagcagttcctacgggacttggacgacttccagtcctggctctctagg acccagacagcgatcgcctcggaggacatgccaaacaccctgaccgaggctgagaagctg ctcacgcagcacgagaacatcaagaacgagatcgacaactacgaggaggactaccagaag atgagggacatgggcgagatggtcacccaggggcagaccgatgcccagtacatgtttctg cggcagcggctgcaggccctggacactggatggaacgagctccacaagatgtgggagaac agacaaaatctcctatcccagtcacatgcctaccagcagttcctcagagacacgaagcaa gccgaagcctttcttaacaaccaggagtatgttctggctcacactgaaatgcctaccacc ttggaaggagctgaagcagcaattaaaaagcaagaggacttcatgaccaccatggacgcc aatgaggagaagatcaatgctgtggtggagactggccggaggctggtgagcgatgggaac atcaactcagatcgcatccaggagaaggtggactctattgatgacagacataggaagaat cgtgagacagccagtgaacttttgatgaggttgaaggacaacagggatctacagaaattc ctgcaagattgtcaagagctgtctctctggatcaatgagaagatgctcacagcccaggac atgtcttacgatgaagccagaaatctgcacagtaaatggttgaagcatcaagcatttatg gcagaacttgcatccaacaaagaatggcttgacaaaatcgagaaggaaggaatgcagctc atttcagaaaagcctgagacggaagctgtggtgaaggagaaactcactggtttacataaa atgtgggaagtccttgaatccactacccagacaaaggcccagcggctctttgatgcaaac aaggccgaacttttcacccagagctgtgcagatctagacaaatggctgcacggcctggag agtcagattcagtctgatgactatggcaaagacctgaccagtgtcaatatcctgctgaaa aagcaacagatgctggagaatcagatggaagtgcggaagaaggagatcgaagagctccaa agccaagcccaggccctgagtcaggaagggaagagcaccgacgaggtagacagcaagcgc ctcaccgtgcagaccaagttcatggagttgctggagcccttgaacgagaggaagcataac ctgctggcctccaaagagatccatcagttcaacagggatgtggaggacgagatcttgtgg gttggagagaggatgcctttggcaacttccacggatcatggccacaacctccagactgtg cagctgttaataaagaaaaatcagaccctccagaaagaaatccaggggcaccagcctcgc attgacgacatctttgagaggagccaaaacatcgtcactgacagcagcagcctcagcgct gaggccatcagacagaggcttgccgacctgaagcagctgtggggtctcctcattgaggag acagagaaacgccacaggcggctggaggaggcgcacagggcccagcagtactactttgac gctgctgaggccgaagcctggatgagcgagcaggagctgtacatgatgtcagaggagaag gccaaggatgagcagagtgctgtctccatgttgaagaagcaccagatcttagaacaagct gtggaggactatgcagagaccgtgcatcagctctccaagaccagccgggccctggtggcc gacagccatcctgaaagtgagcgcattagcatgcggcagtccaaagtggataaactgtac gctggtctgaaagaccttgctgaagagagaagaggcaagctggatgagagacacaggtta ttccagctcaaccgggaggtggacgacctggagcagtggatcgctgagagggaggtggtc gcagggtcccatgaactgggacaggactatgagcatgtcacgatgttacaagaacgattc cgggagtttgcccgagacaccgggaacattgggcaggagcgcgtggacacggtcaatcac ctggcagatgagctcatcaactctggacattcagatgccgccaccatcgctgaatggaag gatggcctcaatgaagcctgggccgacctcctggagctcattgacacaagaacacagatt cttgccgcttcctatgaactgcacaagttttaccacgatgccaaggagatctttgggcgt atacaggacaaacacaagaaactccctgaggagcttgggagagatcagaacacagtggag accttacagagaatgcacactacatttgagcatgacatccaggctctgggcacacaggtg aggcagctgcaggaggatgcagcccgcctccaggcggcctatgcgggtgacaaggccgac gatatccagaagcgcgagaacgaggtcctggaagcctggaagtccctcctggacgcctgt gagagccgcagggtgcggctggtggacacaggggacaagttccgcttcttcagcatggtg cgcgacctcatgctctggatggaggatgtcatccggcagatcgaggcccaggagaagcca agggatgtatcatctgttgaactcttaatgaataatcatcaaggcatcaaagctgaaatt gatgcacgtaatgacagtttcacaacctgcattgaacttgggaaatccctgttggcgaga aaacactatgcatctgaggagatcaaggaaaaattactgcagttgacggaaaagaggaaa gaaatgatcgacaagtgggaagaccgatgggaatggttaagactgattctggaggtccat cagttctcaagagacgccagtgtggccgaggcctggctgcttggacaggagccgtaccta tccagccgagagataggccagagcgtggacgaggtggagaagctcatcaagcgccacgag gcatttgaaaagtctgcagcaacctgggatgagaggttctctgccctggaaaggctgact acattggagttactggaagtgcgcagacagcaagaggaagaggagaggaagaggcggccg ccttctcccgagccgagcacgaaggtttcagaggaagccgagtcccagcagcagtgggat acttcaaaaggagaacaagtttcccaaaacggtttgccagctgaacagggatctccacgg atggcagaaacggtggacacaagcgaaatggtcaacggcgctacagaacaaaggacgagc tctaaagagtccagccccatcccctccccgacctctgatcgtaaagccaagactgccctc ccagcccagagtgccgccaccttaccagccagaacccaggagacaccttcggcccagatg gaaggcttcctcaatcggaaacacgagtgggaggcccacaataagaaagcctcaagcagg tcctggcacaatgtttattgtgtcataaataaccaagaaatgggtttctacaaagatgca aagactgctgcttctggaattccctaccacagcgaggtccctgtgagtttgaaagaagct gtctgcgaagtggcccttgattacaaaaagaagaaacacgtattcaagctaagactaaat gatggcaatgagtacctcttccaagccaaagacgatgaggaaatgaacacatggatccag gctatctcttccgccatctcctctgataaacacgaggtgtctgccagcacccagagcacg ccagcatccagccgcgcgcagaccctccccaccagcgtcgtcaccatcaccagcgagtcc agtcccggcaagcgggaaaaggacaaagagaaagacaaagagaagcggttcagccttttt ggcaaaaagaaatga |
Protein Sequence |
>6711 : length: 2364 MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTF TKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKAL QFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALL LWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNL AEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIET EKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKG NLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQA VVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQEMLYI MDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEG YKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKI LSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERII YIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQ SLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRL RKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNN QASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNY HLECNETKSWIREKTKVIESTQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAE KLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLRDLDDFQSWLSR TQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFL RQRLQALDTGWNELHKMWENRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTT LEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDDRHRKN RETASELLMRLKDNRDLQKFLQDCQELSLWINEKMLTAQDMSYDEARNLHSKWLKHQAFM AELASNKEWLDKIEKEGMQLISEKPETEAVVKEKLTGLHKMWEVLESTTQTKAQRLFDAN KAELFTQSCADLDKWLHGLESQIQSDDYGKDLTSVNILLKKQQMLENQMEVRKKEIEELQ SQAQALSQEGKSTDEVDSKRLTVQTKFMELLEPLNERKHNLLASKEIHQFNRDVEDEILW VGERMPLATSTDHGHNLQTVQLLIKKNQTLQKEIQGHQPRIDDIFERSQNIVTDSSSLSA EAIRQRLADLKQLWGLLIEETEKRHRRLEEAHRAQQYYFDAAEAEAWMSEQELYMMSEEK AKDEQSAVSMLKKHQILEQAVEDYAETVHQLSKTSRALVADSHPESERISMRQSKVDKLY AGLKDLAEERRGKLDERHRLFQLNREVDDLEQWIAEREVVAGSHELGQDYEHVTMLQERF REFARDTGNIGQERVDTVNHLADELINSGHSDAATIAEWKDGLNEAWADLLELIDTRTQI LAASYELHKFYHDAKEIFGRIQDKHKKLPEELGRDQNTVETLQRMHTTFEHDIQALGTQV RQLQEDAARLQAAYAGDKADDIQKRENEVLEAWKSLLDACESRRVRLVDTGDKFRFFSMV RDLMLWMEDVIRQIEAQEKPRDVSSVELLMNNHQGIKAEIDARNDSFTTCIELGKSLLAR KHYASEEIKEKLLQLTEKRKEMIDKWEDRWEWLRLILEVHQFSRDASVAEAWLLGQEPYL SSREIGQSVDEVEKLIKRHEAFEKSAATWDERFSALERLTTLELLEVRRQQEEEERKRRP PSPEPSTKVSEEAESQQQWDTSKGEQVSQNGLPAEQGSPRMAETVDTSEMVNGATEQRTS SKESSPIPSPTSDRKAKTALPAQSAATLPARTQETPSAQMEGFLNRKHEWEAHNKKASSR SWHNVYCVINNQEMGFYKDAKTAASGIPYHSEVPVSLKEAVCEVALDYKKKKHVFKLRLN DGNEYLFQAKDDEEMNTWIQAISSAISSDKHEVSASTQSTPASSRAQTLPTSVVTITSES SPGKREKDKEKDKEKRFSLFGKKK |