FGF13 - fibroblast growth factor 13 Gene

Also Known as FGF2; FHF2; DEE90; FHF-2; FGF-13; LINC00889

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2258

About FGF13

Cytogenetic location: Xq26.3-q27.1 Genomic coordinates (GRCh38): X:138,614,727-139,205,023 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues, 21 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 11.3), fat (RPKM 6.2) and 21 other tissues.

Summary

The protein encoded by this gene is a member of the Fibroblast Growth Factor (FGF) family. FGF Family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for Other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]

FGF13 Products (6)

mRNA	Protein	Name
NM_001139498.2	NP_001132970.1	fibroblast growth factor 13 isoform 4
NM_001139500.2	NP_001132972.1	fibroblast growth factor 13 isoform 2
NM_001139501.2	NP_001132973.1	fibroblast growth factor 13 isoform 3
NM_001139502.2	NP_001132974.1	fibroblast growth factor 13 isoform 3
NM_004114.5	NP_004105.1	fibroblast growth factor 13 isoform 1
NM_033642.3	NP_378668.1	fibroblast growth factor 13 isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15282281	GOA
enables sodium channel regulator activity	IDA IDA: Inferred from direct assay	15282281	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within MAPK cascade	IDA IDA: Inferred from direct assay	12244047	GOA
involved in positive regulation of voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	36696443	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	8790420	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGF13 Protein Structure

FGF

0
100
200
245 a.a.

Protein Preferred Names	Protein Names
fibroblast growth factor 13	fibroblast growth factor homologous factor 2

FGF13 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FGF13	Q92913	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FGF13 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72803	FGF-13 Protein, Human	Q92913-1 (M1-T245)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700057AF	Animal-Free FGF-13 Protein, Human (His)	Q92913-1 (M1-T245)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 90	DEE90 Developmental And Epileptic Encephalopathy, 90
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Borjeson-Forssman-Lehmann Syndrome	BFLS Borj Borjeson Syndrome Mrxsbfl Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type Mental Retardation, Epilepsy, And Endocrine Disorders Mental Retardation, Epilepsy, And Endocrine Disorder Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type Mental Deficiency, Epilepsy And Endocrine Disorders Boerjeson-Forssman-Lehmann Syndrome Borjeson-Forssman Syndrome Mental Deficiency-Epilepsy- Endocrine Disorders
Wildervanck Syndrome	Cervicooculoacoustic Syndrome Coa Syndrome Cervico-Oculo-Acoustic Dysplasia Cervico-Oculo-Acoustic Syndrome Wildervanck'S Syndrome
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Hypertrichosis
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Thanatophoric Dysplasia, Type I	Thanatophoric Dysplasia Thanatophoric Dwarfism Thanatophoric Dysplasia Type 1 TD1 Td Thanatophoric Short Stature Thanatophoric Dwarfism Type 1 Thanatophoric Dysplasia Type I Platyspondylic Lethal Skeletal Dysplasia, San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Skeletal Dysplasia, San Diego Type Plsd San Diego Type Thanatophoric Dwarfism 1 Dwarfism Thanatophoric Dwarf, Thanatophoric Thanatophoric Dysplasia 1 Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type Platyspondylic Lethal Skeletal Dysplasia San Diego Type Thanatophoric Dwarf Thanatophoric Dwarfism Or Short Stature Thanatophoric Dwarfism Syndrome Td - [Thanatophoric Dwarfism]
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Dyssegmental Dysplasia, Silverman-Handmaker Type	DDSH Silverman-Handmaker Type Dyssegmental Dysplasia Dyssegmental Dysplasia Silverman-Handmaker Type Dyssegmental Dwarfism Silverman-Handmaker Type Dyssegmental Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type Dysplasia, Dyssegmental, Silverman-Handmaker Type
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Corneal Dystrophy, Posterior Polymorphous, 2	Posterior Polymorphous Corneal Dystrophy 2 PPCD2 Corneal Dystrophy, Posterior Polymorphous 2 Corneal Dystrophy Polymorphous Posterior, 2 Dystrophy, Corneal, Posterior Polymorphous, Type 2
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04890	FGF13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04893	FGF17 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174708	Human FGF13 mRNA		/	Unkown
HY-RS19002	Fgf13 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25491	Fgf13 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FGF13	VGNC	VGNC:62247
Rattus norvegicus	FGF13	RGD	RGD:620164
Canis familiaris	FGF13	VGNC	VGNC:40842
Bos taurus	FGF13	VGNC	VGNC:28972
Mus musculus	FGF13	MGD	MGI:109178
Others	FGF13	NCBI