FGF12 - fibroblast growth factor 12 Gene

Also Known as FHF1; DEE47; EIEE47; FGF12B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2257

About FGF12

Cytogenetic location: 3q28-q29 Genomic coordinates (GRCh38): 3:192,139,390-192,727,541 (from NCBI)

This gene has 14 transcripts (splice variants), 281 orthologues, 21 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 20.8), brain (RPKM 14.1) and 2 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 growth factor lacks the N-terminal signal sequence present in most of the FGF Family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

FGF12 Products (5)

mRNA	Protein	Name
NM_001377292.1	NP_001364221.1	fibroblast growth factor 12 isoform 3
NM_001377293.1	NP_001364222.1	fibroblast growth factor 12 isoform 4
NM_001377294.1	NP_001364223.1	fibroblast growth factor 12 isoform 4
NM_004113.6	NP_004104.3	fibroblast growth factor 12 isoform 2
NM_021032.5	NP_066360.1	fibroblast growth factor 12 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
NOT enables fibroblast growth factor receptor binding	IDA IDA: Inferred from direct assay	12815063	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	12815063	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22705208	GOA

Biological Process GO Annotation	Evidence	Références	Source
acts upstream of or within JNK cascade	IPI IPI: Inferred from physical interaction	12815063	GOA
NOT acts upstream of or within fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	12815063	GOA
involved in regulation of neuronal action potential	IMP IMP: Inferred from mutant phenotype	27164707	GOA
involved in regulation of voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	27164707	GOA

Cellular Component GO Annotation	Evidence	Références	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

FGF12 Protein Structure

FGF

0
100
200
243 a.a.

Protein Preferred Names	Protein Names
fibroblast growth factor 12	fibroblast growth factor 12B

FGF12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	FGF12	P61328	DACH1	Homo sapiens	Q9UI36-2	Validated Y2H	25416956
Intra	FGF12	P61328	ZNF460	Homo sapiens	Q14592	Y2H Prey Pooling	25416956
Intra	FGF12	P61328	DCTD	Homo sapiens	P32321	Y2H Prey Pooling	25416956
Intra	FGF12	P61328	DCTD	Homo sapiens	P32321	Validated Y2H	25416956
Intra	FGF12	P61328	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	FGF12	P61328	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	FGF12	P61328	IKZF1	Homo sapiens	Q13422	Validated Y2H	25416956
Intra	FGF12	P61328	IKZF1	Homo sapiens	Q13422	Y2H Prey Pooling	25416956
Intra	FGF12	P61328	COIL	Homo sapiens	P38432	Y2H Array	25416956
Intra	FGF12	P61328	COIL	Homo sapiens	P38432	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FGF12 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P7343	FGF-12 Protein, Human (177 a.a)	P61328-1 (E67-T243)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P72654	FGF-12 Protein, Human	P61328-2 (M1-T181)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700056AF	Animal-Free FGF-12 Protein, Human (His)	P61328-2 (M1-T181)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P71959A	FGF-12 Protein, Human (181a.a, His)	P61328-2 (M1-T181)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 47	DEE47 Epileptic Encephalopathy, Early Infantile, 47 Eiee47 Developmental And Epileptic Encephalopathy, 47 Early Infantile Epileptic Encephalopathy 47
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Breast Juvenile Papillomatosis	Juvenile Papillomatosis Of The Breast
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Myasthenic Syndrome, Congenital, 22	CMS22 Prepl Deficiency Congenital Myasthenic Syndrome 22
Deafness, Autosomal Dominant 44	DFNA44 Autosomal Dominant Nonsyndromic Deafness 44 Autosomal Dominant Deafness 44 Deafness, Autosomal Dominant, 44 Deafness, Autosomal Dominant, Type 44
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

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 (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04889	FGF12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174709	Human FGF12 mRNA		/	Unkown
HY-RS17830	Fgf12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24298	Fgf12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FGF12	VGNC	VGNC:72644
Mus musculus	FGF12	MGD	MGI:109183
Canis familiaris	FGF12	VGNC	VGNC:40841
Bos taurus	FGF12	VGNC	VGNC:53568
Felis catus	FGF12	VGNC	VGNC:62246
Rattus norvegicus	FGF12	RGD	RGD:620163
Others	FGF12	NCBI