FGF13 - fibroblast growth factor 13 Gene

Homo sapiens

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

Gene ID: 2258 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Recombinant FGF13 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04890	FGF13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.