CXB2_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: CXB2_HUMAN
• UniProt AC: P29033
• Protein Name: Gap junction beta-2 protein
• Gene Name: GJB2
• Organism: Homo sapiens (Human).
• Sequence Length: 226
• Subcellular Localization: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
• Protein Description: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell..
• Protein Sequence: MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
15	Acetylation	TILGGVNKHSTSIGK HHHCCCHHCCCCHHH	36.20	19775242
17	Phosphorylation	LGGVNKHSTSIGKIW HCCCHHCCCCHHHHH	26.01	29978859
18	Phosphorylation	GGVNKHSTSIGKIWL CCCHHCCCCHHHHHH	24.88	29978859
19	Phosphorylation	GVNKHSTSIGKIWLT CCHHCCCCHHHHHHH	32.15	29978859
75	Methylation	YFPISHIRLWALQLI CCCHHHHHHHHHHHH	20.82	-
102	Acetylation	VAYRRHEKKRKFIKG HHHHHHHHHHHHHHH	52.32	19775242
103	Acetylation	AYRRHEKKRKFIKGE HHHHHHHHHHHHHHH	58.81	19775242
105	Acetylation	RRHEKKRKFIKGEIK HHHHHHHHHHHHHHH	61.39	19775242
108	Ubiquitination	EKKRKFIKGEIKSEF HHHHHHHHHHHHHHC	54.33	21906983
108	Acetylation	EKKRKFIKGEIKSEF HHHHHHHHHHHHHHC	54.33	19775242
112	Ubiquitination	KFIKGEIKSEFKDIE HHHHHHHHHHCCCHH	39.36	21906983
112	Acetylation	KFIKGEIKSEFKDIE HHHHHHHHHHCCCHH	39.36	19775242
116	Acetylation	GEIKSEFKDIEEIKT HHHHHHCCCHHHHHC	54.46	19775242
116	Ubiquitination	GEIKSEFKDIEEIKT HHHHHHCCCHHHHHC	54.46	21906983
122	Ubiquitination	FKDIEEIKTQKVRIE CCCHHHHHCCEEEEE	48.46	21906983
122	Sumoylation	FKDIEEIKTQKVRIE CCCHHHHHCCEEEEE	48.46	-
123	Phosphorylation	KDIEEIKTQKVRIEG CCHHHHHCCEEEEEC	39.00	22817900
177	Phosphorylation	NAWPCPNTVDCFVSR CCCCCCCCEEEEECC	11.67	22817900
183	Phosphorylation	NTVDCFVSRPTEKTV CCEEEEECCCCCHHH	16.58	22817900
186	Phosphorylation	DCFVSRPTEKTVFTV EEEECCCCCHHHHHH	49.34	19775242
221	Methylation	LIRYCSGKSKKPV-- HHHHHCCCCCCCC--	42.69	-
223	Methylation	RYCSGKSKKPV---- HHHCCCCCCCC----	65.66	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
-	K	Ubiquitination	E3 ubiquitin ligase	FBXO2	Q9UK22	PMID:24658274

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of CXB2_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of CXB2_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
CAV1_HUMAN	CAV1	physical	11980479
SKP1_HUMAN	SKP1	physical	15109709
PSMD2_HUMAN	PSMD2	physical	26496610
TFR1_HUMAN	TFRC	physical	26496610
SNX3_HUMAN	SNX3	physical	26496610
PIEZ1_HUMAN	PIEZO1	physical	26496610
INADL_HUMAN	INADL	physical	26496610
RFIP2_HUMAN	RAB11FIP2	physical	26496610
PACN3_HUMAN	PACSIN3	physical	26496610
S38A2_HUMAN	SLC38A2	physical	26496610
MUC13_HUMAN	MUC13	physical	26496610
ACKR3_HUMAN	ACKR3	physical	26496610
CLSPN_HUMAN	CLSPN	physical	26496610
S35E1_HUMAN	SLC35E1	physical	26496610
ANTR1_HUMAN	ANTXR1	physical	26496610

Drug and Disease Associations

• Kegg Disease
• H00604: Deafness, autosomal dominant
• H00605: Deafness, autosomal recessive
• H00706: Bart-Pumphrey syndrome
• H00712: Keratitis-ichthyosis-deafness syndrome; KID/HID syndrome
• H00714: Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis
• H00716: Palmoplantar keratoderma with deafness
• OMIM Disease
• 220290: Deafness, autosomal recessive, 1A (DFNB1A)
• 601544: Deafness, autosomal dominant, 3A (DFNA3A)
• 124500: Vohwinkel syndrome (VS)
• 148350: Keratoderma, palmoplantar, with deafness (PPKDFN)
• 148210: Keratitis-ichthyosis-deafness syndrome (KID syndrome)
• 149200: Bart-Pumphrey syndrome (BPS)
• 602540: Ichthyosis hystrix-like with deafness syndrome (HID syndrome)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.