2. Gene
  3. FGF12 - fibroblast growth factor 12 Gene

FGF12 - fibroblast growth factor 12 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FHF1; DEE47; EIEE47; FGF12B

Gene ID: 2257 | Gene type: protein coding

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 Reference 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 Reference 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 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

FGF12 Protein Structure

FGF

FGF: Fibroblast growth factor (74 - 198)

  • 0
  • 100
  • 200
  • 243 a.a.
Protein Preferred Names Protein Names

fibroblast growth factor 12

fibroblast growth factor 12B

Recombinant FGF12 Proteins

Cat. No. Product Name Accession Purity
HY-P7343 FGF-12 Protein, Human (177 a.a) P61328-1 (E67-T243) ≥95%
HY-P72654 FGF-12 Protein, Human P61328-2 (M1-T181) ≥95%
HY-P700056AF Animal-Free FGF-12 Protein, Human (His) P61328-2 (M1-T181) ≥95%
HY-P71959A FGF-12 Protein, Human (181a.a, His) P61328-2 (M1-T181) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04889 FGF12 Human Pre-designed siRNA Set A Pre-designed Sets / 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