Q9UQC2

PTMD Annotation Information


※ Protein Information

Tag Content
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 DescriptionAdapter 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

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationChronic myelogenous leukemia/Chronic myeloid leukemiaP18235045
[Reference]: Lyn regulates BCR-ABL and Gab2 tyrosine phosphorylation and c-Cbl protein stability in imatinib-resistant chronic myelogenous leukemia cells.

※ Disease Cross-ref Annotation

DatabaseAnnotation
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
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 Sites

PTM Modification Sites
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

※ Protein-Protein Interaction

NetworkInteraction
ABSource