Tag | Content |
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UniProt Accession | GAB2_HUMAN; Q9UQC2; |
Entrez ID | 9846 |
GenBank Protein ID | NM_012296.3; NM_080491.2; XM_006718753.2; |
GenBank Nucleotide ID | NP_036428.1; NP_536739.1; XP_006718816.1; |
Protein Name | GRB2-associated-binding protein 2 (GRB2-associated binder 2) (Growth factor receptor bound protein 2-associated protein 2) (pp100) |
Gene Name | GAB2; KIAA0571 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis. |
Sequence (Fasta) | MSGGGDVVCT GWLRKSPPEK KLRRYAWKKR WFILRSGRMS GDPDVLEYYK NDHSKKPLRI 60 INLNFCEQVD AGLTFNKKEL QDSFVFDIKT SERTFYLVAE TEEDMNKWVQ SICQICGFNQ 120 AEESTDSLRN VSSAGHGPRS SPAELSSSSQ HLLRERKSSA PSHSSQPTLF TFEPPVSNHM 180 QPTLSTSAPQ EYLYLHQCIS RRAENARSAS FSQGTRASFL MRSDTAVQKL AQGNGHCVNG 240 ISGQVHGFYS LPKPSRHNTE FRDSTYDLPR SLASHGHTKG SLTGSETDNE DVYTFKTPSN 300 TLCREFGDLL VDNMDVPATP LSAYQIPRTF TLDKNHNAMT VATPGDSAIA PPPRPPKPSQ 360 AETPRWGSPQ QRPPISENSR SVAATIPRRN TLPAMDNSRL HRASSCETYE YPQRGGESAG 420 RSAESMSDGV GSFLPGKMIV GRSDSTNSED NYVPMNPGSS TLLAMERAGD NSQSVYIPMS 480 PGAHHFDSLG YPSTTLPVHR GPSRGSEIQP PPVNRNLKPD RKAKPTPLDL RNNTVIDELP 540 FKSPITKSWS RANHTFNSSS SQYCRPISTQ SITSTDSGDS EENYVPMQNP VSASPVPSGT 600 NSPAPKKSTG SVDYLALDFQ PSSPSPHRKP STSSVTSDEK VDYVQVDKEK TQALQNTMQE 660 WTDVRQSSEP SKGAKL 677 |
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Database | Annotation |
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CTD (Curated) (count: 3) | MESH:D008545
; Melanoma MESH:D009361 ; Neoplasm Invasiveness MESH:D009362 ; Neoplasm Metastasis |
HGMD (count: 1) | CR073545; Alzheimer's, in APOE4 carriers, incr. risk, assoc.; Regulatory
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GWASdb (count: 63) (view all) | rs2512522; Alzheimer's disease; Alzheimer's disease
rs2912; Alzheimer's disease; Alzheimer's disease rs866901; Alzheimer's disease; Alzheimer's disease rs1046780; Alzheimer's disease; Alzheimer's disease rs2511162; Alzheimer's disease; Alzheimer's disease rs3740677; Alzheimer's disease; Alzheimer's disease |
PTM | Modification Sites |
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Phosphorylation (count: 70) (view all) | 133 DSLRNVSSAGHGPRS dbPAF
140 SAGHGPRSSPAELSS dbPAF 141 AGHGPRSSPAELSSS dbPAF 147 SSPAELSSSSQHLLR dbPAF 148 SPAELSSSSQHLLRE dbPAF 149 PAELSSSSQHLLRER dbPAF |
Ubiquitination (count: 1) | 675 SEPSKGAKL****** PLMD |
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