ID FGF13_HUMAN Reviewed; 245 AA. AC Q92913; O95830; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-FEB-1997, sequence version 1. DT 02-SEP-2008, entry version 73. DE RecName: Full=Fibroblast growth factor 13; DE Short=FGF-13; DE AltName: Full=Fibroblast growth factor homologous factor 2; DE Short=FHF-2; GN Name=FGF13; Synonyms=FHF2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1A). RC TISSUE=Retina; RX MEDLINE=96382556; PubMed=8790420; DOI=10.1073/pnas.93.18.9850; RA Smallwood P.M., Munoz-Sanjuan I., Tong P., Macke J.P., Hendry S.H., RA Gilbert D.J., Copeland N.G., Jenkins N.A., Nathans J.; RT "Fibroblast growth factor (FGF) homologous factors: new members of the RT FGF family implicated in nervous system development."; RL Proc. Natl. Acad. Sci. U.S.A. 93:9850-9857(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A AND 1B). RC TISSUE=Brain; RX MEDLINE=99168751; PubMed=10071193; DOI=10.1007/s004390050910; RA Gecz J., Baker E., Donnelly A., Ming J.E., McDonnald-McGinn D.M., RA Spinner N.B., Zackai E.H., Sutherland G.R., Mulley J.C.; RT "Fibroblast growth factor homologous factor 2 (FHF2): gene structure, RT expression and mapping to the Borjeson-Forssman-Lehmann syndrome RT region in Xq26 delineated by a duplication breakpoint in a BFLS-like RT patient."; RL Hum. Genet. 104:56-63(1999). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLN-197. RA Livingston R.J., Rieder M.J., Chung M.-W., Ritchie T.K., Olson A.N., RA Nguyen C.P., Nguyen D.A., Poel C.L., Chambers S.W., Schackwitz W.S., RA Sherwood J.K., Sherwood A.M., Leithauser B.J., Nickerson D.A.; RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A). RC TISSUE=Lung, and Skin; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Probably involved in nervous system development and CC function. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1A; CC IsoId=Q92913-1; Sequence=Displayed; CC Name=1B; CC IsoId=Q92913-2; Sequence=VSP_001529; CC -!- TISSUE SPECIFICITY: Nervous system. CC -!- SIMILARITY: Belongs to the heparin-binding growth factors family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U66198; AAB18914.1; -; mRNA. DR EMBL; AF100143; AAD16400.1; -; mRNA. DR EMBL; AF100144; AAD16401.1; -; mRNA. DR EMBL; AY672645; AAT70720.1; -; Genomic_DNA. DR EMBL; BC012347; AAH12347.1; -; mRNA. DR EMBL; BC034340; AAH34340.1; -; mRNA. DR RefSeq; NP_004105.1; -. DR RefSeq; NP_378668.1; -. DR UniGene; Hs.6540; -. DR HSSP; P31371; 1G82. DR SMR; Q92913; 64-201. DR Ensembl; ENSG00000129682; Homo sapiens. DR GeneID; 2258; -. DR KEGG; hsa:2258; -. DR H-InvDB; HIX0017088; -. DR HGNC; HGNC:3670; FGF13. DR HPA; HPA002809; -. DR MIM; 300070; gene. DR PharmGKB; PA28109; -. DR HOVERGEN; Q92913; -. DR ArrayExpress; Q92913; -. DR CleanEx; HS_FGF13; -. DR GermOnline; ENSG00000129682; Homo sapiens. DR GO; GO:0008083; F:growth factor activity; TAS:ProtInc. DR GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc. DR GO; GO:0007399; P:nervous system development; TAS:ProtInc. DR GO; GO:0007165; P:signal transduction; TAS:ProtInc. DR InterPro; IPR002209; GF_heparin_bd. DR InterPro; IPR002348; IL1_HBGF. DR PANTHER; PTHR11486; IL1_HBGF; 1. DR Pfam; PF00167; FGF; 1. DR PRINTS; PR00263; HBGFFGF. DR PRINTS; PR00262; IL1HBGF. DR ProDom; PD000831; IL1_HBGF; 1. DR SMART; SM00442; FGF; 1. DR PROSITE; PS00247; HBGF_FGF; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Growth factor; Polymorphism. FT CHAIN 1 245 Fibroblast growth factor 13. FT /FTId=PRO_0000147607. FT VAR_SEQ 1 62 MAAAIASSLIRQKRQAREREKSNACKCVSSPSKGKTSCDKN FT KLNVFSRVKLFGSKKRRRRRP -> MALLRKSYS (in FT isoform 1B). FT /FTId=VSP_001529. FT VARIANT 197 197 K -> Q. FT /FTId=VAR_020945. SQ SEQUENCE 245 AA; 27564 MW; 30FB62C6B2669F29 CRC64; MAAAIASSLI RQKRQARERE KSNACKCVSS PSKGKTSCDK NKLNVFSRVK LFGSKKRRRR RPEPQLKGIV TKLYSRQGYH LQLQADGTID GTKDEDSTYT LFNLIPVGLR VVAIQGVQTK LYLAMNSEGY LYTSELFTPE CKFKESVFEN YYVTYSSMIY RQQQSGRGWY LGLNKEGEIM KGNHVKKNKP AAHFLPKPLK VAMYKEPSLH DLTEFSRSGS GTPTKSRSVS GVLNGGKSMS HNEST //