| Gene ID | 3691 |
| Symbol | ITGB4 |
| Synonymous | CD104 |
| Full name | integrin, beta 4 |
| Gene description | CD104 antigen|GP150|integrin beta-4|integrin beta-4 subunit |
| Cytoband | 17q25 |
| Gene type | protein-coding |
| Synonymous | MIM:147557; HGNC:HGNC:6158; Ensembl:ENSG00000132470; HPRD:00946; Vega:OTTHUMG00000179814 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Cell junction organization;Reactome;REACT:20676 |
Pathway | Arrhythmogenic right ventricular cardiomyopathy (ARVC);KEGG PATHWAY;hsa05412 |
Pathway | a6b1 and a6b4 Integrin signaling;PID Curated;200162 |
Pathway | Validated transcriptional targets of AP1 family members Fra1 and Fra2;PID Curated;200044 |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | Regulation of actin cytoskeleton;KEGG PATHWAY;hsa04810 |
Pathway | Dilated cardiomyopathy;KEGG PATHWAY;hsa05414 |
Pathway | Hypertrophic cardiomyopathy (HCM);KEGG PATHWAY;hsa05410 |
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Pathway | Validated targets of C-MYC transcriptional repression;PID Curated;200171 |
Pathway | Integrin cell surface interactions;Reactome;REACT:13552 |
Pathway | ECM-receptor interaction;KEGG PATHWAY;hsa04512 |
Disease | Epidermolysis bullosa, junctional, with pyloric atresia;OMIM |
Disease | Epidermolysis bullosa, junctional, non-Herlitz type;OMIM |
Disease | Epidermolysis bullosa of hands and feet;OMIM |
Disease | Pemphigoid, Bullous;FunDO |
Disease | Cancer;FunDO |
Disease | Skin disease, Genetic;FunDO |
Sequence Information | |
|---|---|
Nucleotide Sequence | >3691 : length: 6173 CAGCTCCTGCCCCGACAGGTGCGCGCCGCGCGAAGGAATGCAGCCGGTCTGACTCACCAGCGCCTCCTTCCTACCTGCGCGCCCGCCCCATAAAGCGCTGCCCGCCTCGTCCCCACCCCC CCAACCCCCGCGCCCGCCCTCGGACAGTCCCTGCTCGCCCGCGCGCTGCAGCCCCATCTCCTAGCGGCAGCCCAGGCGCGGAGGGAGCGAGTCCGCCCCGAGGTAGGTCCAGGACGGGCG CACAGCAGCAGCCGAGGCTGGCCGGGAGAGGGAGGAAGAGGATGGCAGGGCCACGCCCCAGCCCATGGGCCAGGCTGCTCCTGGCAGCCTTGATCAGCGTCAGCCTCTCTGGGACCTTGG CAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAGTGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGC TGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGC GGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGG ACAACCTCAAGAAGATGGGGCAGAACCTGGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGC CTGAGAAGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAG GCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCT TCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGG TGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGG TGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCT CCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGC CGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGCAAAAAGAGGTGCGGTCAGCTC GCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATTCAGCCCTGCCTGCGGGAGG GCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGCGGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTATGACAACTTCCAGTGTCCCCGCACTT CCGGGTTCCTCTGCAATGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCCACCTGCATCGACAGCAATG GGGGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGCTGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCGATCCACCCGGGCCTCTGCG AGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACCGGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAGCTTAAGAGAGCCGAGGAGG TGGTGGTGCGCTGCTCCTTCCGGGACGAGGATGACGACTGCACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTGCACAAGAAGAAGGACTGCC CTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTCCTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAGGCCTGCCTGGCACTTCTCC CGTGCTGCAACCGAGGTCACATGGTGGGCTTTAAGGAAGACCACTACATGCTGCGGGAGAACCTGATGGCCTCTGACCACTTGGACACGCCCATGCTGCGCAGCGGGAACCTCAAGGGCC GTGACGTGGTCCGCTGGAAGGTCACCAACAACATGCAGCGGCCTGGCTTTGCCACTCATGCCGCCAGCATCAACCCCACAGAGCTGGTGCCCTACGGGCTGTCCTTGCGCCTGGCCCGCC TTTGCACCGAGAACCTGCTGAAGCCTGACACTCGGGAGTGCGCCCAGCTGCGCCAGGAGGTGGAGGAGAACCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGA CCAAGTTCCGGCAGCAGCCCAATGCCGGGAAAAAGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGGTGG AACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTACTACACCCTCACTGCAGACCAGGACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAGCTGGTGGACGTACGGGTGC CCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTGCTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAACATCACCATCATCAAGGAGC AAGCCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCGGTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCCGGCGTGTCCTGGACGGCGGGAAGTCCCAGGTCTCCTACC GCACACAGGATGGCACCGCGCAGGGCAACCGGGACTACATCCCCGTGGAGGGTGAGCTGCTGTTCCAGCCTGGGGAGGCCTGGAAAGAGCTGCAGGTGAAGCTCCTGGAGCTGCAAGAAG TTGACTCCCTCCTGCGGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGATG AACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACT GGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGT ACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGTGCCCAGCGAGCCAGGGCGTCTGG CCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGACCTA TTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGG GGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCATCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCC TTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGC GCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCG GCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTG CTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGC CCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGA AAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCC TGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGCTGCATC GGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGG GTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCC CAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGGCCAGCCACCGCATTCCGGGTGGATG GAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCA TAGAGTCCCAGGATGGAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCT TCCTAGTGGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCC ACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCT GGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAG CACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAG |
Protein Sequence | >3691 : length: 1910 MVVAVRNRAGSEGLESPSWGLREGQQEGQEGRRKRMAGPRPSPWARLLLAALISVSLSGTLANRCKKAPVKSCTECVRVDKDCAYCTDEMFRDRRCNTQAELLAAGCQRESIVVMESSFQ ITEETQIDTTLRRSQMSPQGLRVRLRPGEERHFELEVFEPLESPVDLYILMDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVDKVSVPQTDMRPEKLKEPWPNSDPPFSFKN VISLTEDVDEFRNKLQGERISGNLDAPEGGFDAILQTAVCTRDIGWRPDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTTGTYTQYRTQDYPSVPTLVRLLAKHNIIPIFAV TNYSYSYYEKLHTYFPVSSLGVLQEDSSNIVELLEEAFNRIRSNLDIRALDSPRGLRTEVTSKMFQKTRTGSFHIRRGEVGIYQVQLRALEHVDGTHVCQLPEDQKGNIHLKPSFSDGLK MDAGIICDVCTCELQKEVRSARCSFNGDFVCGQCVCSEGWSGQTCNCSTGSLSDIQPCLREGEDKPCSGRGECQCGHCVCYGEGRYEGQFCEYDNFQCPRTSGFLCNDRGRCSMGQCVCE PGWTGPSCDCPLSNATCIDSNGGICNGRGHCECGRCHCHQQSLYTDTICEINYSAIHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDELKRAEEVVVRCSFRDEDDDCTYSYT MEGDGAPGPNSTVLVHKKKDCPPGSFWWLIPLLLLLLPLLALLLLLCWKYCACCKACLALLPCCNRGHMVGFKEDHYMLRENLMASDHLDTPMLRSGNLKGRDVVRWKVTNNMQRPGFAT HAASINPTELVPYGLSLRLARLCTENLLKPDTRECAQLRQEVEENLNEVYRQISGVHKLQQTKFRQQPNAGKKQDHTIVDTVLMAPRSAKPALLKLTEKQVEQRAFHDLKVAPGYYTLTA DQDARGMVEFQEGVELVDVRVPLFIRPEDDDEKQLLVEAIDVPAGTATLGRRLVNITIIKEQARDVVSFEQPEFSVSRGDQVARIPVIRRVLDGGKSQVSYRTQDGTAQGNRDYIPVEGE LLFQPGEAWKELQVKLLELQEVDSLLRGRQVRRFHVQLSNPKFGAHLGQPHSTTIIIRDPDELDRSFTSQMLSSQPPPHGDLGAPQNPNAKAAGSRKIHFNWLPPSGKPMGYRVKYWIQG DSESEAHLLDSKVPSVELTNLYPYCDYEMKVCAYGAQGEGPYSSLVSCRTHQEVPSEPGRLAFNVVSSTVTQLSWAEPAETNGEITAYEVCYGLVNDDNRPIGPMKKVLVDNPKNRMLLI ENLRESQPYRYTVKARNGAGWGPEREAIINLATQPKRPMSIPIIPDIPIVDAQSGEDYDSFLMYSDDVLRSPSGSQRPSVSDDTGCGWKFEPLLGEELDLRRVTWRLPPELIPRLSASSG RSSDAEAPHGPPDDGGAGGKGGSLPRSATPGPPGEHLVNGRMDFAFPGSTNSLHRMTTTSAAAYGTHLSPHVPHRVLSTSSTLTRDYNSLTRSEHSHSTTLPRDYSTLTSVSSHGLPPIW EHGRSRLPLSWALGSRSRAQMKGFPPSRGPRDSIILAGRPAAPSWGPDSRLTAGVPDTPTRLVFSALGPTSLRVSWQEPRCERPLQGYSVEYQLLNGGELHRLNIPNPAQTSVVVEDLLP NHSYVFRVRAQSQEGWGREREGVITIESQVHPQSPLCPLPGSAFTLSTPSAPGPLVFTALSPDSLQLSWERPRRPNGDIVGYLVTCEMAQGGGPATAFRVDGDSPESRLTVPGLSENVPY KFKVQARTTEGFGPEREGIITIESQDGGPFPQLGSRAGLFQHPLQSEYSSITTTHTSATEPFLVDGLTLGAQHLEAGGSLTRHVTQEFVSRTLTTSGTLSTHMDQQFFQT |