FGF12 (fibroblast growth factor 12)

Gene

• Entrez ID: 2257
• Gene name: Fibroblast growth factor 12
• Gene symbol: FGF12
• Synonyms (NCBI Gene): DEE47, EIEE47, FGF12B, FHF1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601513
• HGNC: 3668
• e!Ensembl: ENSG00000114279

Protein

• UniProt ID: 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

Pathways

Reactome:

Phase 0 - rapid depolarisation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy, 47	Pathogenic; Likely pathogenic	rs886039903, rs2473964114, rs1553798675	RCV000258032 RCV003335984 RCV000626031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early onset epileptic encephalopathy	Pathogenic	rs886039903	RCV001249217	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGF12-related disorder	Likely pathogenic; Pathogenic	rs1553798675	RCV003892404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs886039903	RCV002294210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOID TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	27470512		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28413214	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27470512		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36029553	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33186347	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35092367	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24096171		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	33186347	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35529267	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	27164707		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	28640125		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22552777		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31292943, 31311986		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32645220, 37286232	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27164707, 28506426, 29699863		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27872899		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018, 32645220, 36029553, 37286232, 37331110	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	Epileptic encephalopathy	UNIPROT_DG	27164707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27830185, 27872899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	Epileptic encephalopathy	CLINVAR_DG	27872899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	Epileptic encephalopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29049013		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29049013		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	27637763	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32645220	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	26290467		★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	18397341	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29049013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26491211		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29049013		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20083228, 29049013		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26491211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26491211	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	39676856	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32645220	Associate	★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	27637763		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19607727		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29049013		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30873760	Stimulate	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	28775062	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	28775062		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG	27872899		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25921176	Associate	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	31311986		★☆☆☆☆ Found in Text Mining only