Gene: Itgb8

Basic information

Tag Content
Uniprot ID Q0VBD0
Entrez ID 320910
Genbank protein ID AAI20692.1; AAI25344.1;
Genbank nucleotide ID NM_177290.3
Ensembl protein ID ENSMUSP00000026360
Ensembl nucleotide ID ENSMUSG00000025321
Gene name Integrin beta-8
Gene symbol Itgb8
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 19118215; 12050137;
Functional description Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (By similarity). It recognizes the sequence R-G-D in its ligands (By similarity). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (PubMed:25127859). Required during vasculogenesis (PubMed:12050137, PubMed:16251442).
Sequence
MCGSALAFLT AALLSLHNCQ RGPALVLGAA WVFSLVLGLG QSEHNRCGSA NVVSCARCLQ 60
LGPECGWCVQ EDFVSGGSGS ERCDTVSSLI SKGCPVDSIE YLSVHVVTSS ENEINTQVTP 120
GEVSVQLHPG AEANFMLKVR PLKKYPVDLY YLVDVSASMH NNIEKLNSVG NDLSKKMALY 180
SRDFRLGFGS YVDKTVSPYI SIHPERIHNQ CSDYNLDCMP PHGYIHVLSL TENITEFEKA 240
VHRQKISGNI DTPEGGFDAM LQAAVCESHI GWRKEAKRLL LVMTDQTSHL ALDSKLAGIV 300
VPNDGNCHLK NNVYVKSTTM EHPSLGQLSE KLIDNNINVI FAVQGKQFHW YKDLLPLLPG 360
AIAGEIESKA ANLNNLVVEA YKKIISEVKV QLENQVHGVH FNITAICPDG ARKPGISGCG 420
NVTSNDEVLF NVTVVMKTCD IMGGKNYAII KPIGFNETTK VHIHRSCSCQ CENHRGLKGQ 480
CAEAAPDPKC PQCDDSRCHF DEDQFPSETC KPQEDQPVCS GRGVCICGKC LCHKTKLGRV 540
YGQYCEKDDF SCPYLHGDVC AGHGECEGGR CQCFSGWEGD RCQCPSASAQ HCVNSKGQVC 600
SGRGTCVCGR CECTDPRSIG RLCEHCPTCH LSCSENWNCL QCLHPHNLSQ AALDQCKSSC 660
AVMEQHRMDQ TSECLSGPSY LRIFFIIFIV TFLIGLLKVL IIRQVILQWN NNKIKSSSDY 720
RMSASKKDKL ILQSVCTRAV TYRREKPEEI KMDISKLNAQ EAFRCNF 767

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologITGB8536286F1MVW3Bos taurusPredictionMore>>
1:1 orthologITGB8475253F6X717Canis lupus familiarisPredictionMore>>
1:1 orthologITGB8102191301A0A452F9L9Capra hircusPredictionMore>>
1:1 orthologITGB8100053462F7BLS7Equus caballusPredictionMore>>
1:1 orthologITGB83696P26012Homo sapiensPredictionMore>>
1:1 orthologItgb8320910Q0VBD0CPOMus musculusPublicationMore>>
1:1 orthologA0A4X1TCF4Sus scrofaPredictionMore>>
1:1 orthologITGB8100009141P26013Oryctolagus cuniculusPredictionMore>>
1:1 orthologItgb8362800A0A0G2JVU1Rattus norvegicusPredictionMore>>
1:1 orthologitgb8F1QN46Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005102 signaling receptor bindingISO
GO:0005178 integrin bindingIBA
GO:0038023 signaling receptor activityIEA
GO:1990430 extracellular matrix protein bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0001570 vasculogenesisISS
GO:0001570 vasculogenesisISO
GO:0001573 ganglioside metabolic processIMP
GO:0007160 cell-matrix adhesionIEA
GO:0007229 integrin-mediated signaling pathwayIBA
GO:0010628 positive regulation of gene expressionISO
GO:0010629 negative regulation of gene expressionISO
GO:0016477 cell migrationIBA
GO:0033627 cell adhesion mediated by integrinIBA
GO:0045766 positive regulation of angiogenesisISO
GO:0051216 cartilage developmentISO
GO:1901388 regulation of transforming growth factor beta activationIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005925 focal adhesionIBA
GO:0009986 cell surfaceISO
GO:0034686 integrin alphav-beta8 complexISO
GO:0034686 integrin alphav-beta8 complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1474244 Extracellular matrix organizationIEA
R-MMU-1566948 Elastic fibre formationIEA
R-MMU-2129379 Molecules associated with elastic fibresIEA
R-MMU-216083 Integrin cell surface interactionsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0130 Cell adhesion
KW-1003 Cell membrane
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0401 Integrin
KW-0472 Membrane
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR013032 EGF-like_CS
IPR013111 EGF_extracell
IPR033760 Integrin_beta_N
IPR015812 Integrin_bsu
IPR015442 Integrin_bsu-8
IPR002369 Integrin_bsu_VWA
IPR032695 Integrin_dom_sf
IPR016201 PSI
IPR036465 vWFA_dom_sf

PROSITE

PROSITE ID PROSITE Term
PS00022 EGF_1
PS01186 EGF_2
PS00243 INTEGRIN_BETA

Pfam

Pfam ID Pfam Term
PF07974 EGF_2
PF00362 Integrin_beta
PF17205 PSI_integrin

Protein-miRNA interaction