Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Fibroblast growth factor 12

Gene

FGF12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.1 Publication

GO - Molecular functioni

  • growth factor activity Source: ProtInc
  • heparin binding Source: MGI
  • ion channel binding Source: BHF-UCL
  • sodium channel regulator activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionGrowth factor

Enzyme and pathway databases

ReactomeiR-HSA-5576892 Phase 0 - rapid depolarisation
SIGNORiP61328

Names & Taxonomyi

Protein namesi
Recommended name:
Fibroblast growth factor 12
Short name:
FGF-12
Alternative name(s):
Fibroblast growth factor homologous factor 1
Short name:
FHF-1
Myocyte-activating factor
Gene namesi
Name:FGF12
Synonyms:FGF12B, FHF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114279.13
HGNCiHGNC:3668 FGF12
MIMi601513 gene
neXtProtiNX_P61328

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 47 (EIEE47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
See also OMIM:617166
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076507114R → H in EIEE47; increased function in positive regulation of SCN8A voltage-dependent sodium channel activity. 1 PublicationCorresponds to variant dbSNP:rs886039903EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi114R → A: Gain of function, affects voltage dependence of SCN8A fast inactivation. 1 Publication1
Mutagenesisi114R → G: Gain of function, affects voltage dependence of SCN8A fast inactivation. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2257
MalaCardsiFGF12
MIMi617166 phenotype
OpenTargetsiENSG00000114279
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA28108

Polymorphism and mutation databases

BioMutaiFGF12
DMDMi47117683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001476041 – 243Fibroblast growth factor 12Add BLAST243

Proteomic databases

EPDiP61328
PaxDbiP61328
PeptideAtlasiP61328
PRIDEiP61328
ProteomicsDBi57295
57296 [P61328-2]

PTM databases

iPTMnetiP61328
PhosphoSitePlusiP61328

Expressioni

Tissue specificityi

Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple midbrain structures.

Gene expression databases

BgeeiENSG00000114279 Expressed in 147 organ(s), highest expression level in heart
CleanExiHS_FGF12
ExpressionAtlasiP61328 baseline and differential
GenevisibleiP61328 HS

Organism-specific databases

HPAiHPA071557

Interactioni

Subunit structurei

Interacts with the C-terminal region of SCN9A.By similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108548, 62 interactors
DIPiDIP-59850N
IntActiP61328, 20 interactors
STRINGi9606.ENSP00000413496

Structurei

Secondary structure

1243
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00770
ProteinModelPortaliP61328
SMRiP61328
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP61328

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi11 – 38Bipartite nuclear localization signalSequence analysisAdd BLAST28

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3885 Eukaryota
ENOG4111IPH LUCA
GeneTreeiENSGT00760000118859
HOVERGENiHBG007580
InParanoidiP61328
KOiK22413
OMAiYSSEVFT
OrthoDBiEOG091G0NAY
PhylomeDBiP61328
TreeFamiTF330751

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028254 FGF12
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF17 PTHR11486:SF17, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
PRINTSiPR00263 HBGFFGF
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P61328-1) [UniParc]FASTAAdd to basket
Also known as: FGF-12A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAAIASSLI RQKRQARESN SDRVSASKRR SSPSKDGRSL CERHVLGVFS
60 70 80 90 100
KVRFCSGRKR PVRRRPEPQL KGIVTRLFSQ QGYFLQMHPD GTIDGTKDEN
110 120 130 140 150
SDYTLFNLIP VGLRVVAIQG VKASLYVAMN GEGYLYSSDV FTPECKFKES
160 170 180 190 200
VFENYYVIYS STLYRQQESG RAWFLGLNKE GQIMKGNRVK KTKPSSHFVP
210 220 230 240
KPIEVCMYRE PSLHEIGEKQ GRSRKSSGTP TMNGGKVVNQ DST
Length:243
Mass (Da):27,399
Last modified:May 10, 2004 - v1
Checksum:i773ED10B5BDD033C
GO
Isoform 2 (identifier: P61328-2) [UniParc]FASTAAdd to basket
Also known as: FGF-12B

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRP → MESK

Show »
Length:181
Mass (Da):20,424
Checksum:iE150D8758875C8B7
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JUK8C9JUK8_HUMAN
Fibroblast growth factor
FGF12
141Annotation score:
C9JEN8C9JEN8_HUMAN
Fibroblast growth factor
FGF12
144Annotation score:
C9JIN3C9JIN3_HUMAN
Fibroblast growth factor
FGF12
107Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti190K → E in AAB18786 (PubMed:10049777).Curated1
Sequence conflicti211P → Q in AAH22524 (PubMed:15489334).Curated1
Sequence conflicti229 – 243TPTMN…NQDST → HHHDGGKL in AAB18786 (PubMed:10049777).CuratedAdd BLAST15

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076507114R → H in EIEE47; increased function in positive regulation of SCN8A voltage-dependent sodium channel activity. 1 PublicationCorresponds to variant dbSNP:rs886039903EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0102221 – 66MAAAI…VRRRP → MESK in isoform 2. 3 PublicationsAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66197 mRNA Translation: AAB18913.1
U76381 mRNA Translation: AAB18786.3
AK125307 mRNA Translation: BAG54181.1
AK313671 mRNA Translation: BAG36423.1
AK312513 mRNA Translation: BAG35414.1
CH471052 Genomic DNA Translation: EAW78084.1
BC022524 mRNA Translation: AAH22524.1
CCDSiCCDS3301.1 [P61328-1]
CCDS46983.1 [P61328-2]
PIRiJG0184
RefSeqiNP_004104.3, NM_004113.5 [P61328-2]
NP_066360.1, NM_021032.4 [P61328-1]
UniGeneiHs.390250

Genome annotation databases

EnsembliENST00000445105; ENSP00000393686; ENSG00000114279 [P61328-2]
ENST00000450716; ENSP00000397635; ENSG00000114279 [P61328-2]
ENST00000454309; ENSP00000413496; ENSG00000114279 [P61328-1]
GeneIDi2257
KEGGihsa:2257
UCSCiuc003fsx.4 human [P61328-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66197 mRNA Translation: AAB18913.1
U76381 mRNA Translation: AAB18786.3
AK125307 mRNA Translation: BAG54181.1
AK313671 mRNA Translation: BAG36423.1
AK312513 mRNA Translation: BAG35414.1
CH471052 Genomic DNA Translation: EAW78084.1
BC022524 mRNA Translation: AAH22524.1
CCDSiCCDS3301.1 [P61328-1]
CCDS46983.1 [P61328-2]
PIRiJG0184
RefSeqiNP_004104.3, NM_004113.5 [P61328-2]
NP_066360.1, NM_021032.4 [P61328-1]
UniGeneiHs.390250

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Q1UX-ray1.70A67-206[»]
4JQ0X-ray3.84A1-243[»]
DisProtiDP00770
ProteinModelPortaliP61328
SMRiP61328
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108548, 62 interactors
DIPiDIP-59850N
IntActiP61328, 20 interactors
STRINGi9606.ENSP00000413496

PTM databases

iPTMnetiP61328
PhosphoSitePlusiP61328

Polymorphism and mutation databases

BioMutaiFGF12
DMDMi47117683

Proteomic databases

EPDiP61328
PaxDbiP61328
PeptideAtlasiP61328
PRIDEiP61328
ProteomicsDBi57295
57296 [P61328-2]

Protocols and materials databases

DNASUi2257
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000445105; ENSP00000393686; ENSG00000114279 [P61328-2]
ENST00000450716; ENSP00000397635; ENSG00000114279 [P61328-2]
ENST00000454309; ENSP00000413496; ENSG00000114279 [P61328-1]
GeneIDi2257
KEGGihsa:2257
UCSCiuc003fsx.4 human [P61328-1]

Organism-specific databases

CTDi2257
DisGeNETi2257
EuPathDBiHostDB:ENSG00000114279.13
GeneCardsiFGF12
HGNCiHGNC:3668 FGF12
HPAiHPA071557
MalaCardsiFGF12
MIMi601513 gene
617166 phenotype
neXtProtiNX_P61328
OpenTargetsiENSG00000114279
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA28108
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3885 Eukaryota
ENOG4111IPH LUCA
GeneTreeiENSGT00760000118859
HOVERGENiHBG007580
InParanoidiP61328
KOiK22413
OMAiYSSEVFT
OrthoDBiEOG091G0NAY
PhylomeDBiP61328
TreeFamiTF330751

Enzyme and pathway databases

ReactomeiR-HSA-5576892 Phase 0 - rapid depolarisation
SIGNORiP61328

Miscellaneous databases

ChiTaRSiFGF12 human
EvolutionaryTraceiP61328
GeneWikiiFGF12
GenomeRNAii2257
PROiPR:P61328
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114279 Expressed in 147 organ(s), highest expression level in heart
CleanExiHS_FGF12
ExpressionAtlasiP61328 baseline and differential
GenevisibleiP61328 HS

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028254 FGF12
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF17 PTHR11486:SF17, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
PRINTSiPR00263 HBGFFGF
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFGF12_HUMAN
AccessioniPrimary (citable) accession number: P61328
Secondary accession number(s): B2R6B7
, B2R976, O35339, P70376, Q8TBG5, Q92912, Q93001
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again