O14926

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	FSCN2_HUMAN; O14926;
Entrez ID	25794
GenBank Protein ID	NM_001077182.2; NM_012418.3; XM_011524587.2; XM_011524590.2;
GenBank Nucleotide ID	NP_001070650.1; NP_036550.1; XP_011522889.1; XP_011522892.1;
Protein Name	Fascin-2 (Retinal fascin)
Gene Name	FSCN2
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis. Functional Description Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
Sequence (Fasta)	MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP DPGQGTAVLL 60 RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW VLRSEPHGRF FGGTEDQLSC 120 FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCPREDE MAADGDKPWG VDALLTLIFR 180 SRRYCLKSCD SRYLRSDGRL VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA 240 GRNTRPGKDE LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET 300 KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG RYVCMKKNGQ 360 LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN QLDTNRSVYD VFHLSFSDGA 420 YRIRGRDGGF WYTGSHGSVC SDGERAEDFV FEFRERGRLA IRARSGKYLR GGASGLLRAD 480 ADAPAGTALW EY 493 Fasta Sequence >O14926\|FSCN2\|Homo sapiens (Human) MPTNGLHQVLKIQFGLVNDTDRYLTAESFGFKVNASAPSLKRKQTWVLEPDPGQGTAVLLRSSHLGRYLSAEEDGRVACEAEQPGRDCRFLVLPQPDGRWVLRSEPHGRFFGGTEDQLSCFATAVSPAELWTVHLAIHPQAHLLSVSRRRYVHLCPREDEMAADGDKPWGVDALLTLIFRSRRYCLKSCDSRYLRSDGRLVWEPEPRACYTLEFKAGKLAFKDCDGHYLAPVGPAGTLKAGRNTRPGKDELFDLEESHPQVVLVAANHRYVSVRQGVNVSANQDDELDHETFLMQIDQETKKCTFYSSTGGYWTLVTHGGIHATATQVSANTMFEMEWRGRRVALKASNGRYVCMKKNGQLAAISDFVGKDEEFTLKLINRPILVLRGLDGFVCHHRGSNQLDTNRSVYDVFHLSFSDGAYRIRGRDGGFWYTGSHGSVCSDGERAEDFVFEFRERGRLAIRARSGKYLRGGASGLLRADADAPAGTALWEY

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Colon cancer/carcinoma		P	S39	17855511
1	[Reference]: cDNA rescue of fascin shRNA-knockdown cells with wild-type green fluorescent protein-fascin or fascins mutated at the protein kinase C (PKC) phosphorylation site revealed that both the actin-bundling and active PKC-binding activities of fascin are required for the organization of filopodial protrusions, Rac-dependent migration, and tumor metastasis.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 1)	MESH:C564310 ; Retinitis Pigmentosa 30
DisGeNet (Curated) (count: 42) (view all)	C0017601; Glaucoma C0018777; Conductive hearing loss C0018784; Sensorineural Hearing Loss (disorder) C0020459; Hyperinsulinism C0020619; Hypogonadism C0022578; Keratoconus C0025362; Mental Retardation C0028077; Night Blindness C0028738; Nystagmus C0028754; Obesity C0029089; Ophthalmoplegia C0029124; Optic Atrophy C0035334; Retinitis Pigmentosa C0042798; Low Vision C0085636; Photophobia C0086543; Cataract C0266423; Congenital anomaly of testis C0266435; Congenital hypoplasia of penis C0271215; Blindness, Legal C0423903; Low intelligence C0456909; Blind Vision C0476397; Electroretinogram abnormal C0917816; Mental deficiency C1510497; Lens Opacities C1720508; Retinal pigment epithelial abnormality C1836926; Fundus with peripheral 'bony spicules' C1839764; Broad flat nasal bridge C1840077; Anteverted nostril C1842816; RETINITIS PIGMENTOSA 30 C1843367; Poor school performance C1849367; Nasal bridge wide C1862475; Abnormality of retinal pigmentation C3278975; Attenuation of retinal blood vessels C3665347; Visual Impairment C3714756; Intellectual Disability C4020876; Dull intelligence C4020885; Difficulties with night vision C4020887; Photodysphoria C4021786; Atypical scarring of skin C4024753; Abnormality of the retinal vasculature C4024818; Night blindness, progressive C4048273; Chorioretinal atrophy
HGMD (count: 1)	CD014463; Retinitis pigmentosa, autosomal dominant; Small deletions

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 1)	228 FKDCDGHYLAPVGPA dbPAF