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Protein

Fibroblast growth factor 12

Gene

FGF12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in nervous system development and function. Promote 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

  • adult locomotory behavior Source: Ensembl
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cell-cell signaling Source: ProtInc
  • chemical synaptic transmission Source: Ensembl
  • fibroblast growth factor receptor signaling pathway Source: InterPro
  • heart development Source: ProtInc
  • JNK cascade Source: MGI
  • negative regulation of cation channel activity Source: Ensembl
  • nervous system development Source: ProtInc
  • neuromuscular process Source: Ensembl
  • positive regulation of sodium ion transport Source: Ensembl
  • regulation of membrane depolarization Source: Ensembl
  • regulation of neuronal action potential Source: UniProtKB
  • regulation of sodium ion transmembrane transport Source: BHF-UCL
  • regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
  • regulation of voltage-gated sodium channel activity Source: UniProtKB
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000114279-MONOMER.
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

HGNCiHGNC:3668. FGF12.

Subcellular locationi

GO - Cellular componenti

  • extracellular space Source: ProtInc
  • intracellular Source: GOC
  • nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

FGF12 mutations are a cause of early infantile epileptic encephalopathy with progressive cerebellar atrophy. A form of epilepsy characterized by frequent tonic seizures beginning in infancy, with a typical ictal EEG pattern of low voltage fast activity, followed by a long suppression of the background. Patients develop profound intellectual disability, acquired microcephally, axial hypotonia, ataxia, severe feeding difficulties, cerebral visual impairment, absent speech development, and sudden death in epilepsy.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi114R → A: Gain of function, increases inhbition of SCN8A. 1 Publication1
Mutagenesisi114R → G: Gain of function, weakly increases inhbition of SCN8A. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2257.
OpenTargetsiENSG00000114279.
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.

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.
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

WithEntry#Exp.IntActNotes
COILP384323EBI-6657662,EBI-945751
DACH1Q9UI36-23EBI-6657662,EBI-10186082
DCTDP323213EBI-6657662,EBI-739870
IKZF1Q134223EBI-6657662,EBI-745305
LZTS2Q9BRK43EBI-6657662,EBI-741037
ZNF460Q145923EBI-6657662,EBI-2555738

GO - Molecular functioni

  • growth factor activity Source: ProtInc
  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108548. 15 interactors.
DIPiDIP-59850N.
IntActiP61328. 15 interactors.
STRINGi9606.ENSP00000413496.

Structurei

Secondary structure

1243
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi73 – 79Combined sources7
Turni80 – 82Combined sources3
Beta strandi83 – 87Combined sources5
Beta strandi93 – 97Combined sources5
Helixi102 – 104Combined sources3
Beta strandi106 – 112Combined sources7
Beta strandi115 – 120Combined sources6
Turni121 – 123Combined sources3
Beta strandi126 – 129Combined sources4
Beta strandi135 – 140Combined sources6
Helixi143 – 145Combined sources3
Beta strandi147 – 152Combined sources6
Turni153 – 155Combined sources3
Beta strandi156 – 165Combined sources10
Turni167 – 169Combined sources3
Beta strandi172 – 174Combined sources3
Beta strandi181 – 183Combined sources3
Helixi186 – 188Combined sources3
Helixi194 – 196Combined sources3
Beta strandi198 – 202Combined sources5

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[»]
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.
KOiK04358.
OMAiYSSEVFT.
OrthoDBiEOG091G0NAY.
PhylomeDBiP61328.
TreeFamiTF330751.

Family and domain databases

CDDicd00058. FGF. 1 hit.
InterProiIPR008996. Cytokine_IL1-like.
IPR028254. FGF12.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF17. PTHR11486:SF17. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 Found in patients with early infantile epileptic encephalopathy and cerebellar atrophy; gain of function; increases inhbition of SCN8A. 1 Publication1

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

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[»]
ProteinModelPortaliP61328.
SMRiP61328.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108548. 15 interactors.
DIPiDIP-59850N.
IntActiP61328. 15 interactors.
STRINGi9606.ENSP00000413496.

PTM databases

iPTMnetiP61328.
PhosphoSitePlusiP61328.

Polymorphism and mutation databases

BioMutaiFGF12.
DMDMi47117683.

Proteomic databases

EPDiP61328.
PaxDbiP61328.
PeptideAtlasiP61328.
PRIDEiP61328.

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.
GeneCardsiFGF12.
HGNCiHGNC:3668. FGF12.
HPAiHPA071557.
MIMi601513. gene.
neXtProtiNX_P61328.
OpenTargetsiENSG00000114279.
PharmGKBiPA28108.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3885. Eukaryota.
ENOG4111IPH. LUCA.
GeneTreeiENSGT00760000118859.
HOVERGENiHBG007580.
InParanoidiP61328.
KOiK04358.
OMAiYSSEVFT.
OrthoDBiEOG091G0NAY.
PhylomeDBiP61328.
TreeFamiTF330751.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000114279-MONOMER.
ReactomeiR-HSA-5576892. Phase 0 - rapid depolarisation.
SIGNORiP61328.

Miscellaneous databases

ChiTaRSiFGF12. human.
EvolutionaryTraceiP61328.
GeneWikiiFGF12.
GenomeRNAii2257.
PROiP61328.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114279.
CleanExiHS_FGF12.
ExpressionAtlasiP61328. baseline and differential.
GenevisibleiP61328. HS.

Family and domain databases

CDDicd00058. FGF. 1 hit.
InterProiIPR008996. Cytokine_IL1-like.
IPR028254. FGF12.
IPR002209. Fibroblast_GF_fam.
IPR028142. IL-1_fam/FGF_fam.
[Graphical view]
PANTHERiPTHR11486. PTHR11486. 1 hit.
PTHR11486:SF17. PTHR11486:SF17. 1 hit.
PfamiPF00167. FGF. 1 hit.
[Graphical view]
PRINTSiPR00263. HBGFFGF.
PR00262. IL1HBGF.
SMARTiSM00442. FGF. 1 hit.
[Graphical view]
SUPFAMiSSF50353. SSF50353. 1 hit.
PROSITEiPS00247. HBGF_FGF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFGF12_HUMAN
AccessioniPrimary (citable) accession number: P61328
Secondary accession number(s): B2R6B7
, B2R976, O35339, P70376, Q8TBG5, Q92912, Q93001
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: November 30, 2016
This is version 129 of the entry and version 1 of the sequence. [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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.