P29033

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	CXB2_HUMAN; P29033;
Entrez ID	2706
GenBank Protein ID	NM_004004.5; XM_011535049.2;
GenBank Nucleotide ID	NP_003995.2; XP_011533351.1;
Protein Name	Gap junction beta-2 protein (Connexin-26) (Cx26)
Gene Name	GJB2
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional 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. Functional 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.
Sequence (Fasta)	MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD FVCNTLQPGC 60 KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH EKKRKFIKGE IKSEFKDIEE 120 IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC 180 FVSRPTEKTV FTVFMIAVSG ICILLNVTEL CYLLIRYCSG KSKKPV 227 Fasta Sequence >P29033\|GJB2\|Homo sapiens (Human) MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Arginine Methylation	Palmoplantar keratoderma		N	R75	19775242
1	[Reference]: Arg 75 Trp for Palmoplantar keratoderma ?

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 17) (view all)	MESH:D002481 ; Cellulitis MESH:D003638 ; Deafness MESH:C567277 ; Deafness, Autosomal Dominant 3A MESH:C567134 ; Deafness, Autosomal Recessive 1A MESH:D006319 ; Hearing Loss, Sensorineural MESH:D017497 ; Hidradenitis Suppurativa MESH:C566528 ; HID Syndrome MESH:D007057 ; Ichthyosis MESH:D007634 ; Keratitis MESH:C536168 ; Keratitis, Ichthyosis, and Deafness (KID) Syndrome MESH:D007645 ; Keratoderma, Palmoplantar MESH:C537210 ; Knuckle pads, leuconychia and sensorineural deafness MESH:C536152 ; Palmoplantar Keratoderma with Deafness MESH:C536424 ; Progressive hearing loss stapes fixation MESH:D011565 ; Psoriasis MESH:D012878 ; Skin Neoplasms MESH:C536457 ; Vohwinkel syndrome
DisGeNet (Curated) (count: 95) (view all)	C0002170; Alopecia C0007137; Squamous cell carcinoma C0007642; Cellulitis C0010043; Corneal Ulcer C0011053; Deafness C0011606; Exfoliative dermatitis C0013238; Dry Eye Syndromes C0016382; Flushing C0018772; Hearing Loss, Partial C0018777; Conductive hearing loss C0018784; Sensorineural Hearing Loss (disorder) C0020620; Hypohidrosis C0020757; Ichthyoses C0022568; Keratitis C0022575; Keratoconjunctivitis Sicca C0022596; Palmoplantar Keratosis C0023532; Leukoplakia, Oral C0033860; Psoriasis C0037286; Skin Neoplasms C0037299; Skin Ulcer C0040412; Fissured tongue C0041834; Erythema C0042798; Low Vision C0043349; Xerophthalmia C0085109; Corneal Neovascularization C0085636; Photophobia C0151811; Subcutaneous nodule C0155119; Recurrent erosion of cornea C0162836; Hidradenitis Suppurativa C0221204; Lytic lesion C0221259; Trichiasis C0221260; Dystrophia unguium C0240182; Leukonychia C0265336; Senter syndrome C0265964; Mutilating keratoderma C0266004; Knuckle pads, leuconychia and sensorineural deafness C0271215; Blindness, Legal C0271623; Hypogonadotropic hypogonadism C0332573; Macule C0334166; Pseudoainhum C0338656; Impaired cognition C0339789; Congenital deafness C0349702; Corneal Scar C0409338; Flexion contracture - elbow C0423867; Fine hair C0456909; Blind Vision C0473579; Porokeratotic eccrine ostial and dermal duct nevus C0683322; Mental impairment C0728829; Congenital pes cavus C0746926; Multiple, subcutaneous nodules C0751688; Malignant Squamous Cell Neoplasm C0870082; Hyperkeratosis C1384666; hearing impairment C1527388; Amniotic Bands C1562761; Punctate epithelial keratitis C1704317; Leukokeratosis C1832446; Sparse eyebrow C1833225; Dystrophic toenail changes C1834405; Nail dysplasia C1835672; Palmoplantar Keratoderma with Deafness C1835686; Recurrent bacterial skin infections C1837279; Hypoplastic toenails C1837770; Sparse hair C1843005; Absent eyelashes C1843156; Hearing loss, progressive sensorineural C1843300; Sparse eyelashes C1845977; X- linked recessive C1848765; Sparse/absent eyebrows C1848924; Infantile onset C1852289; Autoamputation of digits C1856786; Hypoplastic fingernails C1860844; Thin, sparse hair C1861326; Stapes ankylosis C1865234; ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS C1866032; Honeycomb palmoplantar keratoderma C1969913; Hyperkeratosis, generalized C2266639; Absence of eyebrows C2673759; DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) C2675111; Abnormal eyelashes C2675750; DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) C2676973; Bulbous internal auditory canal C2930821; Keratitis sicca C3489396; Hypogonadism, Isolated Hypogonadotropic C3551426; Dystrophic fingernails C3551430; Sparse or absent eyebrows C3665333; Keratitis-Ichthyosis-Deafness Syndrome C3665347; Visual Impairment C3806301; Scarring alopecia of scalp C4020887; Photodysphoria C4020888; Epithelial corneal erosions C4020899; Autosomal recessive predisposition C4021956; Aplasia/Hypoplasia of the eyebrow C4023328; Abnormality of corneal stroma C4280626; Aplasia of eyelashes C4280627; Failure of development of eyelashes
HGMD (count: 266) (view all)	CD982677; Deafness, autosomal recessive 1; Small deletions CD004708; Deafness; Small deletions CD972240; Deafness, autosomal recessive 1; Small deletions CD056150; Deafness; Small deletions CD991732; Deafness, autosomal recessive 1; Small deletions CD051748; Deafness, autosomal recessive 1; Small deletions CD066361; Deafness; Small deletions CD087022; Deafness, autosomal recessive 1; Small deletions CD003093; Deafness, autosomal recessive 1; Small deletions CD982679; Deafness, autosomal recessive 1; Small deletions CD077874; Hearing impairment, nonsyndromic; Small deletions CD042865; Deafness; Small deletions CD042866; Deafness; Small deletions CD054339; Deafness; Small deletions CD077687; Sensorineural hearing loss; Small deletions CD077873; Hearing impairment, nonsyndromic; Small deletions HD971450; Deafness, autosomal recessive 1; Small deletions CD051747; Deafness; Small deletions CD000073; Deafness, autosomal recessive 1; Small deletions CD030138; Deafness; Small deletions CD993052; Deafness, autosomal recessive 1; Small deletions CD054340; Deafness; Small deletions CD077872; Hearing impairment, nonsyndromic; Small deletions CD014801; Deafness and palmoplantar hyperkeratosis; Small deletions CD993053; Deafness, autosomal recessive 1; Small deletions CD991730; Deafness, autosomal recessive 1; Small deletions CD982678; Deafness, autosomal recessive 1; Small deletions CD051750; Deafness, autosomal recessive 1; Small deletions CD077688; Sensorineural hearing loss; Small deletions CD054341; Deafness; Small deletions CD000074; Deafness, autosomal recessive 1; Small deletions CD051749; Deafness, autosomal recessive 1; Small deletions CD973405; Deafness, autosomal recessive 1; Small deletions CD972241; Deafness, autosomal recessive 1; Small deletions CD051751; Deafness, autosomal recessive 1; Small deletions CD040308; Deafness ?; Small deletions CD050143; Deafness; Small deletions CD077689; Sensorineural hearing loss; Small deletions CD092119; Hearing loss, non-syndromic; Small deletions CG973465; Deafness, autosomal recessive 1; Gross deletions CN025089; Deafness; Gross insertions CX000296; Deafness, autosomal recessive 1; Small indels CX065870; Deafness ?; Small indels CX031112; Deafness; Small indels CX065871; Deafness; Small indels CP015791; Deafness, autosomal recessive 1; Small indels CI067234; Deafness, autosomal recessive 1; Small insertions CI024066; Deafness; Small insertions CI014787; Deafness, autosomal recessive 1; Small insertions CI057618; Deafness; Small insertions CI992009; Deafness, autosomal recessive 1; Small insertions CI022182; Deafness; Small insertions CI077716; Sensorineural hearing loss; Small insertions CI983105; Deafness, autosomal recessive 1; Small insertions CI024277; Deafness; Small insertions CI034078; Deafness; Small insertions CI077717; Sensorineural hearing loss; Small insertions CI992010; Deafness, autosomal recessive 1; Small insertions CI035543; Deafness; Small insertions CI086157; Deafness; Small insertions CM980922; Deafness, autosomal recessive 1; Missense/nonsense CM077935; Hearing impairment, nonsyndromic; Missense/nonsense CM034038; Deafness; Missense/nonsense CM077561; Sensorineural hearing loss; Missense/nonsense CM035529; Deafness; Missense/nonsense CM014193; Deafness; Missense/nonsense CM035528; Deafness; Missense/nonsense CM020941; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM042706; Deafness; Missense/nonsense CM022364; Deafness; Missense/nonsense CM000167; Deafness, autosomal recessive 1; Missense/nonsense CM077573; Sensorineural hearing loss; Missense/nonsense CM042067; Deafness; Missense/nonsense CM065235; Deafness ?; Missense/nonsense CM062762; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM023925; Deafness; Missense/nonsense CM041348; Deafness; Missense/nonsense CM020942; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM085449; Deafness; Missense/nonsense CM000168; Deafness, autosomal recessive 1; Missense/nonsense CM010310; Deafness; Missense/nonsense CM023926; Deafness; Missense/nonsense CM970678; Deafness, autosomal dominant 3; Missense/nonsense CM013720; Deafness ?; Missense/nonsense CM034039; Deafness; Missense/nonsense CM077574; Sensorineural hearing loss; Missense/nonsense CM013721; Deafness; Missense/nonsense CM023927; Deafness; Missense/nonsense CM002993; Deafness, autosomal recessive 1; Missense/nonsense CM091631; Deafness; Missense/nonsense CM970679; Deafness, autosomal dominant 3; Missense/nonsense CM077555; Sensorineural hearing loss; Missense/nonsense CM057547; Deafness; Missense/nonsense CM014357; Deafness; Missense/nonsense CM014708; Deafness; Missense/nonsense CM065234; Deafness; Missense/nonsense CM000016; Deafness, autosomal recessive 1; Missense/nonsense CM077559; Sensorineural hearing loss; Missense/nonsense CM042707; Deafness; Missense/nonsense CM041349; Deafness, autosomal recessive 1; Missense/nonsense CM051511; Deafness, autosomal recessive 1; Missense/nonsense CM044893; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM085450; Hearing impairment, bilateral sensorineural; Missense/nonsense CM034040; Deafness; Missense/nonsense CM065237; Deafness; Missense/nonsense CM042708; Deafness, autosomal dominant 3; Missense/nonsense CM993705; Deafness, autosomal recessive 1; Missense/nonsense CM980923; Deafness, autosomal dominant 3; Missense/nonsense CM990689; Deafness, autosomal recessive 1; Missense/nonsense CM022365; Deafness; Missense/nonsense CM077570; Sensorineural hearing loss; Missense/nonsense CM970680; Deafness, autosomal recessive 1; Missense/nonsense CM030878; Deafness ?; Missense/nonsense CM020717; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM031992; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM084866; Keratitis-ichthyosis-deafness syndrome; Missense/nonsense CM053906; Deafness; Missense/nonsense CM014709; Deafness; Missense/nonsense CM077550; Sensorineural hearing loss; Missense/nonsense CM024606; Deafness ?; Missense/nonsense CM042709; Knuckle pads, leukonychia, sensorineural deafness; Missense/nonsense CM071796; Deafness and palmoplantar keratoderma; Missense/nonsense CM050056; Deafness; Missense/nonsense CM045460; Deafness, autosomal dominant 3; Missense/nonsense CM077562; Sensorineural hearing loss; Missense/nonsense CM993706; Deafness, autosomal recessive 1; Missense/nonsense CM087021; Deafness, autosomal recessive 1; Missense/nonsense CM073094; Deafness; Missense/nonsense CM052246; Knuckle pads, leukonychia, sensorineural deafness; Missense/nonsense CM050057; Knuckle pads, hyperkeratosis and deafness; Missense/nonsense CM000017; Deafness and palmoplantar keratoderma; Missense/nonsense CM041350; Deafness; Missense/nonsense CM040425; Deafness ?; Missense/nonsense CM034041; Deafness; Missense/nonsense CM065236; Deafness ?; Missense/nonsense CM077571; Sensorineural hearing loss; Missense/nonsense CM051512; Deafness, autosomal recessive 1; Missense/nonsense CM040220; Deafness ?; Missense/nonsense CM980924; Deafness, autosomal recessive 1; Missense/nonsense CM990690; Vohwinkel syndrome; Missense/nonsense CM023928; Deafness; Missense/nonsense CM085451; Deafness; Missense/nonsense CM077556; Sensorineural hearing loss; Missense/nonsense CM035525; Deafness; Missense/nonsense CM035526; Deafness; Missense/nonsense CM030879; Deafness ?; Missense/nonsense CM081298; Deafness and palmoplantar keratoderma; Missense/nonsense CM980925; Deafness, autosomal dominant 3; Missense/nonsense CM022211; Deafness and palmoplantar hyperkeratosis; Missense/nonsense CM077560; Sensorineural hearing loss; Missense/nonsense CM970682; Deafness, autosomal recessive 1; Missense/nonsense CM034042; Deafness; Missense/nonsense CM970681; Deafness, autosomal recessive 1; Missense/nonsense CM034418; Deafness; Missense/nonsense CM012133; Deafness, autosomal recessive 1; Missense/nonsense CM022366; Deafness; Missense/nonsense CM031188; Deafness, autosomal recessive 1; Missense/nonsense CM051513; Deafness, autosomal recessive 1; Missense/nonsense CM055279; Deafness, autosomal recessive 1; Missense/nonsense CM051514; Deafness, autosomal recessive 1; Missense/nonsense CM077563; Sensorineural hearing loss; Missense/nonsense CM021271; Deafness; Missense/nonsense CM022367; Deafness ?; Missense/nonsense CM035527; Deafness ?; Missense/nonsense CM980926; Deafness, autosomal recessive 1; Missense/nonsense CM077558; Sensorineural hearing loss; Missense/nonsense CM022368; Deafness; Missense/nonsense CM003934; Deafness; Missense/nonsense CM031189; Deafness; Missense/nonsense CM065231; Deafness ?; Missense/nonsense CM021272; Deafness; Missense/nonsense CM091845; Sensorineural hearing loss; Missense/nonsense CM040426; Deafness; Missense/nonsense CM990691; Deafness, autosomal recessive 1; Missense/nonsense CM077553; Sensorineural hearing loss; Missense/nonsense CM023929; Deafness; Missense/nonsense CM980927; Deafness, autosomal recessive 1; Missense/nonsense CM993707; Deafness, autosomal recessive 1; Missense/nonsense CM993708; Deafness, autosomal recessive 1; Missense/nonsense CM053904; Deafness; Missense/nonsense CM051515; Deafness, autosomal recessive 1; Missense/nonsense CM004930; Deafness, autosomal recessive 1; Missense/nonsense CM073093; Deafness; Missense/nonsense CM073092; Deafness; Missense/nonsense CM042710; Deafness; Missense/nonsense CM980928; Deafness, autosomal recessive 1; Missense/nonsense CM013722; Deafness ?; Missense/nonsense CM000169; Deafness, autosomal recessive 1; Missense/nonsense CM023930; Deafness; Missense/nonsense CM077564; Sensorineural hearing loss; Missense/nonsense CM993709; Deafness, autosomal recessive 1; Missense/nonsense CM003935; Deafness ?; Missense/nonsense CM980929; Deafness, autosomal recessive 1; Missense/nonsense CM014710; Deafness; Missense/nonsense CM980930; Deafness ?; Missense/nonsense CM065233; Deafness ?; Missense/nonsense CM014194; Deafness; Missense/nonsense CM077565; Sensorineural hearing loss; Missense/nonsense CM034043; Deafness; Missense/nonsense CM052247; Vohwinkel syndrome; Missense/nonsense CM053905; Deafness; Missense/nonsense CM051516; Deafness, autosomal recessive 1; Missense/nonsense CM073095; Deafness; Missense/nonsense CM990692; Deafness, autosomal recessive 1; Missense/nonsense CM053900; Deafness; Missense/nonsense CM013723; Deafness, autosomal recessive 1; Missense/nonsense CM053901; Deafness; Missense/nonsense CM032931; Deafness; Missense/nonsense CM000018; Deafness, autosomal recessive 1; Missense/nonsense CM010311; Deafness, autosomal dominant 3; Missense/nonsense CM077557; Sensorineural hearing loss; Missense/nonsense CM040427; Deafness, autosomal recessive 1; Missense/nonsense CM035026; Deafness, autosomal recessive 1; Missense/nonsense CM004414; Deafness, autosomal recessive 1; Missense/nonsense CM053902; Deafness; Missense/nonsense CM035530; Deafness; Missense/nonsense CM013724; Deafness ?; Missense/nonsense CM010312; Deafness; Missense/nonsense CM077568; Sensorineural hearing loss; Missense/nonsense CM040428; Deafness ?; Missense/nonsense CM065232; Deafness ?; Missense/nonsense CM022019; Deafness; Missense/nonsense CM021609; Deafness ?; Missense/nonsense CM021610; Deafness; Missense/nonsense CM077554; Sensorineural hearing loss; Missense/nonsense CM035027; Deafness, autosomal dominant 3; Missense/nonsense CM013725; Deafness; Missense/nonsense CM012362; Deafness, autosomal recessive 1; Missense/nonsense CM077566; Sensorineural hearing loss; Missense/nonsense CM071795; Deafness, autosomal recessive 1; Missense/nonsense CM042711; Deafness; Missense/nonsense CM012134; Deafness, unilateral; Missense/nonsense CM091632; Deafness; Missense/nonsense CM051517; Deafness, autosomal recessive 1; Missense/nonsense CM000170; Deafness, autosomal recessive 1; Missense/nonsense CM055280; Deafness, autosomal recessive 1; Missense/nonsense CM051518; Deafness, autosomal recessive 1; Missense/nonsense CM990693; Deafness, autosomal recessive 1; Missense/nonsense CM012135; Deafness, autosomal recessive 1; Missense/nonsense CM031190; Deafness; Missense/nonsense CM085452; Focal palmoplantar keratoderma; Missense/nonsense CM030042; Deafness; Missense/nonsense CM000709; Deafness, autosomal recessive 1; Missense/nonsense CM012136; Deafness, autosomal recessive 1; Missense/nonsense CM992895; Deafness, autosomal recessive 1; Missense/nonsense CM077552; Sensorineural hearing loss; Missense/nonsense CM076217; Enlarged vestibular aqueduct; Missense/nonsense CM077551; Sensorineural hearing loss; Missense/nonsense CM030880; Deafness ?; Missense/nonsense CM012137; Deafness, autosomal recessive 1; Missense/nonsense CM993710; Deafness, autosomal recessive 1; Missense/nonsense CM042712; Deafness; Missense/nonsense CM001172; Deafness, autosomal dominant 3; Missense/nonsense CM012138; Deafness ?; Missense/nonsense CM055278; Deafness, autosomal recessive 1; Missense/nonsense CM013726; Deafness; Missense/nonsense CM053903; Deafness; Missense/nonsense CM041351; Deafness, autosomal recessive 1; Missense/nonsense CM012139; Deafness, autosomal recessive 1; Missense/nonsense CM077569; Sensorineural hearing loss ?; Missense/nonsense CM077572; Sensorineural hearing loss; Missense/nonsense CM001708; Deafness, autosomal recessive 1; Missense/nonsense CM077567; Sensorineural hearing loss; Missense/nonsense HR0601; Deafness, autosomal recessive 1; Regulatory CS991407; Deafness, autosomal recessive 1; Splicing CS091634; Deafness; Splicing
GWASdb (count: 2)	rs3751385; Psoriasis; psoriasis rs3751385; Myocardial Infarction; myocardial infarction

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 4)	123 KDIEEIKTQKVRIEG dbPAF 177 NAWPCPNTVDCFVSR dbPAF 183 NTVDCFVSRPTEKTV dbPAF 186 DCFVSRPTEKTVFTV dbPAF
Acetylation (count: 7) (view all)	102 VAYRRHEKKRKFIKG PLMD 103 AYRRHEKKRKFIKGE PLMD 105 RRHEKKRKFIKGEIK PLMD 108 EKKRKFIKGEIKSEF PLMD 112 KFIKGEIKSEFKDIE PLMD 116 GEIKSEFKDIEEIKT PLMD 15 TILGGVNKHSTSIGK PLMD
Ubiquitination (count: 4)	108 EKKRKFIKGEIKSEF PLMD 112 KFIKGEIKSEFKDIE PLMD 116 GEIKSEFKDIEEIKT PLMD 122 FKDIEEIKTQKVRIE PLMD
Methylation (count: 2)	221 LIRYCSGKSKKPV PLMD 223 RYCSGKSKKPV** PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

E9PMS4	P29033	BioGRID
O95452	P29033	HPRD
P01737	P29033	BioGRID
P02462	P29033	BioGRID
P05121	P29033	BioGRID
P06493	P29033	BioGRID
P08034	P29033	HPRD
P08571	P29033	IntAct
P28482	P29033	BioGRID
P29033	P48742	BioGRID
P29033	P50748	BioGRID
P29033	Q03135	HPRD
P29033	Q4LDE5	BioGRID
P29033	Q6UXD7	BioGRID
P29033	Q71DI3	BioGRID
P29033	Q7Z5P9	BioGRID
P29033	Q96JG9	BioGRID