full name
integrin subunit beta 4

synonyms
CD104, ITGB4, ENSG00000132470

HGNC
HGNC:6158

Entrez Gene
Gene:3691

ENSEMBL
ENSG00000132470

location
chr: 17
start: 73717516
stop: 73753899
strand: +

OMIM
OMIM:147557: ITGB4 (Autosomal dominant inheritance)
OMIM:131800: Epidermolysis bullosa of hands and feet
OMIM:226650: Epidermolysis bullosa, junctional, non-Herlitz type
OMIM:226730: Epidermolysis bullosa, junctional, with pyloric atresia

transcripts
NM_000213.3
NM_001005731.1
NM_001005619.1

pathways
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Assembly of collagen fibrils and other multimeric structures [NCBI:1270247] [REACTOME:R-HSA-2022090] [PUBMED:8645190] [PUBMED:21182410]
Cell junction organization [NCBI:1270232] [REACTOME:R-HSA-446728]
Cell-Cell communication [NCBI:1270231] [REACTOME:R-HSA-1500931] [PUBMED:20554646] [PUBMED:12598678] [PUBMED:17766183] [PUBMED:18837673] [PUBMED:16691243] [PUBMED:1616050]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
Dilated cardiomyopathy [NCBI:121494] [KEGG:hsa05414] [PUBMED:11524405] [PUBMED:11805847] [PUBMED:12270949] [PUBMED:14522402] [PUBMED:19017683] [PUBMED:15146239] [PUBMED:18672201] [PUBMED:19273156] [PUBMED:19246813] [PUBMED:11716909] [PUBMED:16817756]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:15381249] [PUBMED:12796473] [PUBMED:11331578] [PUBMED:15036264] [PUBMED:12125070] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:11572082] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:14756624] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15179030] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:15034601] [PUBMED:12235283] [PUBMED:14519391] [PUBMED:11146675] [PUBMED:11229600] [PUBMED:15688067] [PUBMED:14744429] [PUBMED:11882383]
Hypertrophic cardiomyopathy (HCM) [NCBI:114229] [KEGG:hsa05410] [PUBMED:11805847] [PUBMED:18572189] [PUBMED:14711353] [PUBMED:19136482] [PUBMED:18056765] [PUBMED:11225594] [PUBMED:12844200] [PUBMED:10615904] [PUBMED:11716909] [PUBMED:11371514] [PUBMED:12270949]
Laminin interactions [NCBI:1270253] [REACTOME:R-HSA-3000157] [PUBMED:23057746]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Regulation of actin cytoskeleton [NCBI:83089] [KEGG:hsa04810] [PUBMED:11152757] [PUBMED:11082272] [PUBMED:10574699] [PUBMED:11082269] [PUBMED:14657486] [PUBMED:14744429] [PUBMED:12700767]
Syndecan interactions [NCBI:1270255] [REACTOME:R-HSA-3000170] [PUBMED:17097330] [PUBMED:15774861] [PUBMED:20565253]
Type I hemidesmosome assembly [NCBI:1270240] [REACTOME:R-HSA-446107] [PUBMED:16757171]
Validated targets of C-MYC transcriptional repression [NCBI:169353] [Pathway Interaction Database:myc_represspathway] [PUBMED:17082179] [PUBMED:11282029] [PUBMED:9869632] [PUBMED:15021909] [PUBMED:16167342] [PUBMED:18056446] [PUBMED:18045875] [PUBMED:1670896] [PUBMED:18393360] [PUBMED:7556187] [PUBMED:11313917] [PUBMED:17471507] [PUBMED:12418961] [PUBMED:9927431] [PUBMED:9924025] [PUBMED:18483244] [PUBMED:14716294] [PUBMED:15506972] [PUBMED:15616584] [PUBMED:12729735] [PUBMED:19219026] [PUBMED:12747840] [PUBMED:2182320] [PUBMED:12545156] [PUBMED:15367674] [PUBMED:11283613] [PUBMED:12384701] [PUBMED:18066065] [PUBMED:18455888] [PUBMED:10920185] [PUBMED:17881732] [PUBMED:20190815] [PUBMED:16352593] [PUBMED:17050536] [PUBMED:11283614] [PUBMED:16391002] [PUBMED:11804592] [PUBMED:7870572] [PUBMED:16940161] [PUBMED:12695333] [PUBMED:17159920] [PUBMED:8972190] [PUBMED:9312026] [PUBMED:17485441] [PUBMED:16288014]
Validated transcriptional targets of AP1 family members Fra1 and Fra2 [NCBI:169349] [Pathway Interaction Database:fra_pathway] [PUBMED:20386569] [PUBMED:1827665] [PUBMED:17510314] [PUBMED:17001307] [PUBMED:19419315] [PUBMED:12121977] [PUBMED:15790882] [PUBMED:18435914] [PUBMED:1406676] [PUBMED:20543861] [PUBMED:19687301] [PUBMED:9651314] [PUBMED:20392257] [PUBMED:20472895] [PUBMED:16554298] [PUBMED:17496887] [PUBMED:19995753] [PUBMED:8058317] [PUBMED:2497053] [PUBMED:8798756] [PUBMED:17347653] [PUBMED:18331200] [PUBMED:19966854] [PUBMED:17882273] [PUBMED:9858556] [PUBMED:3130660] [PUBMED:19289495] [PUBMED:11756554] [PUBMED:1945831] [PUBMED:15688012] [PUBMED:8441422] [PUBMED:17371847] [PUBMED:10421804] [PUBMED:2110368] [PUBMED:18548006] [PUBMED:20353950] [PUBMED:15229648] [PUBMED:11425864] [PUBMED:15601844] [PUBMED:10918580] [PUBMED:9858557] [PUBMED:19716794] [PUBMED:9819396] [PUBMED:17052890] [PUBMED:20398633] [PUBMED:20371606] [PUBMED:10359014] [PUBMED:15143165] [PUBMED:15618352] [PUBMED:9160889] [PUBMED:12052899] [PUBMED:9409785] [PUBMED:15291758] [PUBMED:1923525] [PUBMED:7759510] [PUBMED:15608675] [PUBMED:14519134] [PUBMED:20053986] [PUBMED:15256456] [PUBMED:19923172] [PUBMED:15558021] [PUBMED:12773579]
a6b1 and a6b4 Integrin signaling [NCBI:138008] [Pathway Interaction Database:a6b1_a6b4_integrin_pathway] [PUBMED:8698818] [PUBMED:16436605] [PUBMED:7556090] [PUBMED:16510594] [PUBMED:1959558] [PUBMED:8738575] [PUBMED:16339173] [PUBMED:12865436] [PUBMED:9428518] [PUBMED:17308105] [PUBMED:12919677] [PUBMED:11098055] [PUBMED:11044453] [PUBMED:9856810] [PUBMED:10321801] [PUBMED:8609714] [PUBMED:8143784] [PUBMED:1883873] [PUBMED:9488728] [PUBMED:1757471] [PUBMED:1533398] [PUBMED:16504015] [PUBMED:10694273] [PUBMED:12584562] [PUBMED:17178732] [PUBMED:10477766] [PUBMED:15579904] [PUBMED:11733063]