Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2257
Gene name	Fibroblast growth factor 12
Gene symbol	FGF12
Synonyms (NCBI Gene)	DEE47EIEE47FGF12BFHF1
Chromosome	3
Chromosome location	3q28-q29
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, cel

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886039903	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553798675	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623945	hsa-miR-21-5p	HITS-CLIP	23824327
MIRT623944	hsa-miR-590-5p	HITS-CLIP	23824327
MIRT623943	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623942	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT995509	hsa-miR-4424	CLIP-seq
MIRT995510	hsa-miR-4433	CLIP-seq
MIRT995511	hsa-miR-4503	CLIP-seq
MIRT995512	hsa-miR-4653-3p	CLIP-seq
MIRT995513	hsa-miR-4722-5p	CLIP-seq
MIRT995514	hsa-miR-330-3p	CLIP-seq
MIRT995515	hsa-miR-4738-3p	CLIP-seq
MIRT995516	hsa-miR-548c-3p	CLIP-seq
MIRT995517	hsa-miR-548p	CLIP-seq
MIRT1995220	hsa-miR-224	CLIP-seq
MIRT1995221	hsa-miR-3685	CLIP-seq
MIRT1995222	hsa-miR-384	CLIP-seq
MIRT1995223	hsa-miR-4291	CLIP-seq
MIRT1995224	hsa-miR-4310	CLIP-seq
MIRT1995225	hsa-miR-4773	CLIP-seq
MIRT1995226	hsa-miR-513a-3p	CLIP-seq
MIRT2229309	hsa-miR-1208	CLIP-seq
MIRT2229310	hsa-miR-1343	CLIP-seq
MIRT2229311	hsa-miR-197	CLIP-seq
MIRT2229312	hsa-miR-3074-5p	CLIP-seq
MIRT2229313	hsa-miR-3124-3p	CLIP-seq
MIRT995514	hsa-miR-330-3p	CLIP-seq
MIRT1995221	hsa-miR-3685	CLIP-seq
MIRT1995222	hsa-miR-384	CLIP-seq
MIRT2229314	hsa-miR-500a	CLIP-seq
MIRT2229315	hsa-miR-501-5p	CLIP-seq
MIRT2229316	hsa-miR-511	CLIP-seq
MIRT2229317	hsa-miR-515-5p	CLIP-seq
MIRT2229318	hsa-miR-548a-5p	CLIP-seq
MIRT2229319	hsa-miR-548ab	CLIP-seq
MIRT2229320	hsa-miR-548ak	CLIP-seq
MIRT2229321	hsa-miR-548b-5p	CLIP-seq
MIRT2229322	hsa-miR-548c-5p	CLIP-seq
MIRT2229323	hsa-miR-548d-5p	CLIP-seq
MIRT2229324	hsa-miR-548h	CLIP-seq
MIRT2229325	hsa-miR-548i	CLIP-seq
MIRT2229326	hsa-miR-548j	CLIP-seq
MIRT2229327	hsa-miR-548k	CLIP-seq
MIRT2229328	hsa-miR-548l	CLIP-seq
MIRT2229329	hsa-miR-548w	CLIP-seq
MIRT2229330	hsa-miR-548y	CLIP-seq
MIRT2229331	hsa-miR-559	CLIP-seq
MIRT2229332	hsa-miR-668	CLIP-seq
MIRT2387980	hsa-miR-3117-3p	CLIP-seq
MIRT2387981	hsa-miR-3169	CLIP-seq
MIRT1995221	hsa-miR-3685	CLIP-seq
MIRT1995222	hsa-miR-384	CLIP-seq
MIRT2387982	hsa-miR-4735-5p	CLIP-seq
MIRT2387983	hsa-miR-4759	CLIP-seq
MIRT2387980	hsa-miR-3117-3p	CLIP-seq
MIRT2387981	hsa-miR-3169	CLIP-seq
MIRT1995221	hsa-miR-3685	CLIP-seq
MIRT1995222	hsa-miR-384	CLIP-seq
MIRT2532847	hsa-miR-4477a	CLIP-seq
MIRT2387982	hsa-miR-4735-5p	CLIP-seq
MIRT2387983	hsa-miR-4759	CLIP-seq
MIRT2387980	hsa-miR-3117-3p	CLIP-seq
MIRT2387981	hsa-miR-3169	CLIP-seq
MIRT1995221	hsa-miR-3685	CLIP-seq
MIRT1995222	hsa-miR-384	CLIP-seq
MIRT2532847	hsa-miR-4477a	CLIP-seq
MIRT2387982	hsa-miR-4735-5p	CLIP-seq
MIRT2387983	hsa-miR-4759	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005104	Function	Fibroblast growth factor receptor binding	IDA	12815063
GO:0005515	Function	Protein binding	IPI	22705208, 25416956, 32296183, 36411431
GO:0005615	Component	Extracellular space	TAS	10049777
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8790420
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8790420
GO:0005737	Component	Cytoplasm	IBA
GO:0007165	Process	Signal transduction	TAS	8790420, 10049777
GO:0007254	Process	JNK cascade	IPI	12815063
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	TAS	8790420, 10049777
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8790420
GO:0007507	Process	Heart development	TAS	10049777
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8790420, 10049777
GO:0008201	Function	Heparin binding	IDA	12815063
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	12815063
GO:0010765	Process	Positive regulation of sodium ion transport	IEA
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	ISS	12401812
GO:0022008	Process	Neurogenesis	IBA
GO:0044325	Function	Transmembrane transporter binding	ISS	12401812
GO:0045202	Component	Synapse	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	NAS	12401812
GO:0098908	Process	Regulation of neuronal action potential	IMP	27164707
GO:1902305	Process	Regulation of sodium ion transmembrane transport	ISS	12401812
GO:1905150	Process	Regulation of voltage-gated sodium channel activity	IMP	27164707

MIM	HGNC	e!Ensembl
601513	3668	ENSG00000114279

P61328

Protein name

Fibroblast growth factor 12 (FGF-12) (Fibroblast growth factor homologous factor 1) (FHF-1) (Myocyte-activating factor)

Protein function

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 inactivat

PDB

1Q1U , 4JQ0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00167	FGF	73 → 199	Fibroblast growth factor	Domain

Tissue specificity

TISSUE SPECIFICITY: 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 mi

Sequence

MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKR
PVRRRPEPQLKGIVTRLFSQQGYFLQMHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQG
VKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKE
GQIMKGNRVKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGRSRKSSGTPTMNGGKVVNQ
DST

Sequence length

243

Interactions

View interactions

	Reactome
			Phase 0 - rapid depolarisation

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 47	Pathogenic; Likely pathogenic	rs886039903, rs2473964114, rs1553798675	RCV000258032 RCV003335984 RCV000626031
Early onset epileptic encephalopathy	Pathogenic	rs886039903	RCV001249217
FGF12-related disorder	Likely pathogenic; Pathogenic	rs1553798675	RCV003892404
Seizure	Pathogenic	rs886039903	RCV002294210

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Thyroid cancer, nonmedullary, 1	Benign	rs3732883	RCV005907958

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32533823, 34550610
Arthritis Rheumatoid	Associate	28413214
Autism Spectrum Disorder	Associate	36029553
Brain Diseases	Associate	33186347
Breast Neoplasms	Associate	35092367
Calcinosis	Associate	33186347
Calcinosis Cutis	Associate	33186347
Carcinoma Renal Cell	Associate	35529267
Drug Resistant Epilepsy	Associate	32645220
Encephalitis Viral	Associate	37891420
Endometrial Stromal Tumors	Associate	39676856
Epilepsy	Associate	32645220, 37286232
Epileptic Encephalopathy Early Infantile 3	Associate	31957018, 32645220, 36029553, 37286232, 37331110
Heterotaxy Syndrome	Associate	27637763
Intellectual Disability	Associate	32645220
Leukemia Hairy Cell	Associate	18397341
Malocclusion Angle Class III	Associate	28640125
Mental Disorders	Associate	32645220
Neoplasms	Associate	26491211
Primary Myelofibrosis	Associate	18397341
Prostatic Neoplasms	Associate	26491211
Prostatitis	Associate	26491211
Sarcoma Endometrial Stromal	Associate	39676856
Seizures	Associate	32645220
Stomach Neoplasms	Stimulate	30873760
Tachycardia Ventricular	Associate	28775062
Urethritis	Associate	26663319
Urinary Bladder Neoplasms	Associate	25921176
Ventricular Outflow Obstruction Right	Associate	28775062

FGF12 (fibroblast growth factor 12)