Aliases for FGF8 Gene
Aliases for FGF8 Gene
External Ids for FGF8 Gene
- HGNC: 3686
- Entrez Gene: 2253
- Ensembl: ENSG00000107831
- OMIM: 600483
- UniProtKB: P55075
Previous GeneCards Identifiers for FGF8 Gene
- GC10M102423
- GC10M102763
- GC10M103661
- GC10M103194
- GC10M103519
- GC10M097160
- GC10M103530
Summaries for FGF8 Gene
-
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 protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for FGF8 Gene
FGF8 (Fibroblast Growth Factor 8) is a Protein Coding gene. Diseases associated with FGF8 include Hypogonadotropic Hypogonadism 6 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are GPCR Pathway and RET signaling. GO annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF17.
UniProtKB/Swiss-Prot for FGF8 Gene
-
Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGF8 Gene
Genomics for FGF8 Gene
Regulatory Elements for FGF8 Gene
Enhancers for FGF8 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH10G102009 | 1.4 | Ensembl ENCODE dbSUPER | 9.3 | -229.6 | -229632 | 0.4 | ELF3 TBL1XR1 WRNIP1 ARID4B ZNF2 ZSCAN9 RAD21 RFX5 SLC30A9 SCRT2 | KCNIP2 C10orf76 HPS6 MGEA5 KCNIP2-AS1 FGF8 POLL DPCD ENSG00000222430 |
| GH10G101858 | 1 | ENCODE | 10.4 | -78.9 | -78933 | 1.9 | ATF1 FOXA2 ARNT TCF12 ZNF766 GATA2 ELK1 ZNF263 NCOA1 JUNB | FGF8 PPRC1 GC10M101802 ENSG00000274742 |
| GH10G101725 | 0.8 | ENCODE | 11.3 | +54.2 | 54232 | 0.6 | HDGF CTCF KLF17 ZNF384 ZNF48 ZNF2 RAD21 TEAD3 ZNF121 ZBTB48 | FGF8 FBXW4 POLL DPCD HPS6 ENSG00000224817 LOC105378458 |
| GH10G101616 | 0.8 | ENCODE | 11 | +162.9 | 162862 | 1.2 | BCOR HDGF CTCF ESRRA MXI1 WRNIP1 SIN3A ZMYM3 MAX ZFHX2 | DPCD POLL FGF8 BTRC RNU6-1165P MIR3158-2 |
| GH10G101642 | 0.6 | ENCODE | 10.4 | +136.3 | 136292 | 2.8 | PAF1 HDAC2 BCL11A MAX REST CHD7 | RNU6-1165P POLL DPCD FGF8 RNU2-43P HPS6 FBXW4 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FGF8 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FGF8 gene promoter:
Regulatory Element Products
Genomic Location for FGF8 Gene
- Chromosome:
- 10
- Start:
- 101,770,130 bp from pter
- End:
- 101,780,369 bp from pter
- Size:
- 10,240 bases
- Orientation:
- Minus strand
Genomic View for FGF8 Gene
Genes around FGF8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.32 by Ensembl
- 10q24.32 by Entrez Gene
- 10q24.32 by HGNC
FGF8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FGF8 Gene
Proteins for FGF8 Gene
-
Protein details for FGF8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P55075-FGF8_HUMAN
- Recommended name:
- Fibroblast growth factor 8
- Protein Accession:
- P55075
- A1A514
- Q14915
- Q15766
Protein attributes for FGF8 Gene
- Size:
- 233 amino acids
- Molecular mass:
- 26525 Da
- Quaternary structure:
-
- Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
Protein Expression for FGF8 Gene
Post-translational modifications for FGF8 Gene
Other Protein References for FGF8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for FGF8 (FGF-8)
-
Custom Antibody ServicesOriGene Antibodies for FGF8
- Novus Biologicals Antibodies for FGF8
- Invitrogen Antibodies for FGF8
- antibodies-online Antibodies for FGF8: See all 82
- GeneTex FGF8 antibody for FGF8
-
Santa Cruz Biotechnology (SCBT) Antibodies for FGF8
Protein Products
- EMD Millipore Purified and/or Recombinant FGF8 Protein
- R&D Systems Proteins and Enzymes for FGF8 (FGF-8)
- Enzo Life Sciences proteins for FGF8
-
OriGene Purified Proteins for FGF8
- Search Origene for MassSpec and Protein Over-expression Lysates for FGF8
- Origene Custom Protein Services for FGF8
- ProSpec Recombinant Proteins for FGF8
- antibodies-online Proteins for FGF8: See all 55
- Search antibodies-online for peptides
- GeneTex Proteins for FGF8
Assay Products
- antibodies-online Kits for FGF8: See all 13
No data available for DME Specific Peptides for FGF8 Gene
Domains & Families for FGF8 Gene
Gene Families for FGF8 Gene
- HGNC:
Protein Domains for FGF8 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FGF8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P55075- Family:
-
- Belongs to the heparin-binding growth factors family.
Function for FGF8 Gene
Molecular function for FGF8 Gene
- GENATLAS Biochemistry:
- fibroblast growth factor 8,involved in the development of the central nervous system,face,limbs,(key indicator of apical ectodermal ridge,AER) kidney in mouse,unlikely involved in craniosynostosis/limb defect syndromes
- UniProtKB/Swiss-Prot Function:
- Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).
LifeMap Function Summary for FGF8 Gene
During embryonic development, FGF8 as signaling molecule is secreted from the following cells
- Neural Ectoderm
- Limb
- Heart
- Gut Tube
- Head Mesenchyme
- Epiblast
- Intermediate Mesoderm
- Surface Ectoderm
- Somite
- Paraxial Mesoderm
- Kidney
- Primitive Streak
It affects the following cells:
- Neural Ectoderm
- Neural Crest
- Mesoderm
- Heart
- Head Mesenchyme
-
Neural Tube
- Dorsolateral Hinge Point Cells (Mesencephalon)
- Early Caudal Floor Plate Cells (Diencephalic Floor Plate)
- Early Floor Plate Cells (Mesencephalic Floor Plate)
- Meso-diencephalic Dopaminergic Precursor Cells (Mesencephalic Ventricular Zone)
- Meso-diencephalic Dopaminergic Precursor Cells (Diencephalic Ventricular Zone)
- Epiblast
- Spinal Cord
- Lateral Plate Mesoderm
- Primitive Streak
- Somite
- Brain
- Paraxial Mesoderm
- Limb
- Bone
- Kidney
FGF8 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
- Brain
- Neurons
- Neural Ectoderm
- Neural Tube
-
and also in
- Anterior astroglial progenitor cells
- Definitive endoderm
- Dopaminergic neuron precursor cells
- Dopaminergic neuron precursors cells
- Induced foor plate cells
- KSR/LSB/S/F8/CHIR-induced cells
- KSR/LSB/S/F8-induced cells
- Matured neural rosettes
- Midbrain neural progenitor-like cells
- Mixed neural progenitor cells
- N2/LSB/S/F8/CHIR-induced cells
- N2/LSB/S/F8-induced cells
- Primitive neural rosettes
- Retinoic acid-induced cells
- Sonic hedgehog-induced cells
- Sonic hedgehog-induced embryoid bodies
- Sonic hedgehog-induced neural stem cells
- Thymic epithelial progenitor cells
- Ventral pharyngeal endoderm
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004713 | protein tyrosine kinase activity | TAS | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005104 | fibroblast growth factor receptor binding | IEA | -- |
| GO:0008083 | growth factor activity | IEA | -- |
| GO:0016303 | 1-phosphatidylinositol-3-kinase activity | TAS | -- |
Phenotypes for FGF8 Gene
- MGI mutant phenotypes for FGF8:
-
inferred from 15 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for FGF8:
Animal Models for FGF8 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Search ViGene Biosciences for FGF8
CRISPR Products
-
OriGene CRISPR knockouts for FGF8
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGF8
- GenScript: Design CRISPR guide RNA sequences for FGF8
miRNA for FGF8 Gene
- miRTarBase miRNAs that target FGF8
miRNA Products
- Search ViGene Biosciences for FGF8
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FGF8
- Browse OriGene Inhibitory RNA Products For FGF8
Clone Products
-
OriGene ORF clones in human for FGF8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for FGF8
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGF8 Gene
Localization for FGF8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FGF8 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS,IEA | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0009897 | external side of plasma membrane | IEA | -- |
Pathways & Interactions for FGF8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Downstream signaling of activated FGFR2 | ||
| 3 | Apoptotic Pathways in Synovial Fibroblasts |
.74
.66
|
.65
.61
.60
.57
|
| 4 | Negative regulation of FGFR1 signaling | ||
| 5 | GPCR Pathway |
.73
.62
|
.55
|
Pathways by source for FGF8 Gene
8 BioSystems pathways for FGF8 Gene
109 Reactome pathways for FGF8 Gene
8 KEGG pathways for FGF8 Gene
1 GeneGo (Thomson Reuters) pathway for FGF8 Gene
2 R&D Systems pathways for FGF8 Gene
Interacting Proteins for FGF8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0001569 | branching involved in blood vessel morphogenesis | IEA | -- |
| GO:0001656 | metanephros development | IEP | 18437684 |
| GO:0001658 | branching involved in ureteric bud morphogenesis | IEA | -- |
| GO:0001759 | organ induction | IEA | -- |
Drugs & Compounds for FGF8 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Heparin | Approved, Investigational | Pharma | Antagonist | 848,265 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for FGF8 Gene
mRNA/cDNA for FGF8 Gene
- (5) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (14) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FGF8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FGF8
-
Santa Cruz Biotechnology (SCBT) CRISPR for FGF8
- GenScript: Design CRISPR guide RNA sequences for FGF8
miRNA Products
- Search ViGene Biosciences for FGF8
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FGF8
- Browse OriGene Inhibitory RNA Products For FGF8
Clone Products
-
OriGene ORF clones in human for FGF8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - | ||||||||||||||
| SP3: | - | - | |||||||||||||
| SP4: | - | - | |||||||||||||
| SP5: | - |
Expression for FGF8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
- Limb Ectoderm
-
Neural Tube (Nervous System)
- Anterior Neural Ridge Cells Neural Plate
- Isthmus Cells Neural Plate
- Mesencephalic Ventricular Zone
- Telencephalon
- Diencephalon
- Brain (Nervous System)
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
- S-shaped Body Distal Cells S-shaped Body Distal Segment
- S-shaped Body Medial Cells S-shaped Body Medial Segment
- Distal Renal Vesicle Cells Renal Vesicle
- Metanephros
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Paraxial Mesoderm Cells Head Mesenchyme
- Mesenchymal Condensate Cells Zeugopod
-
Hypoblast (Extraembryonic Tissues)
- Parietal Endoderm Cells Hypoblast
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
- Visceral Endoderm Cells Visceral Endoderm
- Hypoblast Cells Hypoblast
-
Ectoderm (Gastrulation Derivatives)
- Intraembryonic Ectoderm Cells Ectoderm
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Surface Ectoderm Cells Surface Ectoderm
- Ectoderm Cells Branchial Arch 1
-
Paraxial Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Head Mesoderm
-
Somite (Muscoskeletal System)
- Mononuclear Myocytes Cervical Epaxial Myotome
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Mononuclear Myocytes Cervical Hypaxial Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Cervical Epaxial Myotome
- Mononuclear Myocytes Cervical Hypaxial Myotome
- Muscle Progenitor Cells Mandibular Arch Muscles
- Paraxial Mesoderm Cells Head Mesenchyme
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Autopod
- Mesenchymal Condensate Cells Stylopod
- Mesenchymal Condensate Cells Zeugopod
- Epiblast (Early Embryonic Tissues)
-
Mesoderm (Gastrulation Derivatives)
- Intermediate Mesoderm Cells Intermediate Mesoderm
- Paraxial Mesoderm Cells Trunk Mesoderm
- Mesoderm Cells Mesoderm
-
Head Mesenchyme (Muscoskeletal System)
- Ectoderm Cells Branchial Arch 1
- Paraxial Mesoderm Cells Head Mesenchyme
- Head Mesenchyme
-
Neural Ectoderm (Nervous System)
- Anterior Neural Ridge Cells Neural Plate
- Isthmus Cells Neural Plate
-
Heart (Cardiovascular System)
- Heart Tube Cells Heart Tube
- Cardiomyocyte Progenitor Cells Myocardium
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Primitive Streak
- Primitive streak-like cells(Hinton A et. al. 2010)
-
Placenta (Extraembryonic Tissues)
- Allantois Cells Allantois
- Allantois
-
Yolk Sac (Extraembryonic Tissues)
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
- Visceral Endoderm Cells Visceral Endoderm
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Surface Ectoderm
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
-
Intermediate Mesoderm (Gastrulation Derivatives)
- Intermediate Mesoderm Cells Intermediate Mesoderm
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
-
Epidermis (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Gut Tube (Gastrointestinal Tract)
- Eye (Sensory Organs)
- NULL (Uncategorized)
- Endoderm (Gastrulation Derivatives)
mRNA differential expression in normal tissues according to GTEx for FGF8 Gene
This gene is overexpressed in Brain - Cortex (x4.6), Testis (x4.2), and Brain - Hippocampus (x4.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FGF8 Gene
NURSA nuclear receptor signaling pathways regulating expression of FGF8 Gene:
FGF8SOURCE GeneReport for Unigene cluster for FGF8 Gene:
Hs.57710Evidence on tissue expression from TISSUES for FGF8 Gene
- Nervous system(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FGF8 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
- hypothalamus
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- olfactory bulb
- pharynx
- pituitary gland
- skull
- tooth
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- testicle
- uterus
- vagina
- vas deferens
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for FGF8
-
OriGene qPCR primer pairs and template standards for FGF8
No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FGF8 Gene
Orthologs for FGF8 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FGF8 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fgf8 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fgf8 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FGF8 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FGF8 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FGF8 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FGF8 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FGF8 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fgf8 34 |
|
||
| Str.20147 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.20011 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fgf8a 34 35 |
|
||
| fgf8b 35 |
|
OneToMany | |||
| fgf8 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for FGF8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FGF8 Gene
Variants for FGF8 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137852659 | Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] | 101,775,769(-) | TGTTG(A/C)ACTTG | reference, missense, utr-variant-5-prime | |
| rs137852660 | Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] | 101,775,209(-) | AGGCC(C/T)GGGCA | intron-variant, reference, missense | |
| rs137852661 | Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] | 101,775,168(-) | CCCTG(C/T)TCCGG | intron-variant, reference, missense | |
| rs137852662 | Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] | 101,774,771(-) | CCAAC(A/G)AGCGC | reference, missense, utr-variant-5-prime | |
| rs137852663 | Pathogenic, Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702] | 101,771,528(-) | GAGTT(C/G)GAGTC | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv171n67 | CNV | gain | 20364138 |
| nsv1070886 | CNV | deletion | 25765185 |
| nsv1131004 | CNV | deletion | 24896259 |
| nsv951003 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.37;
8.22% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FGF8 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGF8 Gene
Disorders for FGF8 Gene
(32) MalaCards diseases for FGF8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypogonadotropic hypogonadism 6 with or without anosmia |
|
|
| kallmann syndrome |
|
|
| midline interhemispheric variant of holoprosencephaly |
|
|
| septopreoptic holoprosencephaly |
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| fgf8-related isolated gonadotropin-releasing hormone deficiency |
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Search FGF8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FGF8_HUMAN- Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:18596921, ECO:0000269 PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in FGF8 as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.
Relevant External Links for FGF8
No data available for Genatlas for FGF8 Gene
Publications for FGF8 Gene
- Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. (PMID: 18596921) Falardeau J. … Pitteloud N. (J. Clin. Invest. 2008) 3 4 22 64
- FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. (PMID: 17264867) Beleza-Meireles A. … NordenskjAPld A. (Eur. J. Hum. Genet. 2007) 3 22 46 64
- Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain. (PMID: 16384934) Olsen S.K. … Mohammadi M. (Genes Dev. 2006) 3 4 22 64
- Structure and sequence of human FGF8. (PMID: 8661131) Gemel J. … Macarthur C.A. (Genomics 1996) 3 4 22 64
- The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells. (PMID: 8700553) Payson R.A. … Chiu I.-M. (Oncogene 1996) 3 4 22 64
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