FGF8 (GeneID: 2253) | Homo sapiens
Description: fibroblast growth factor 8 [Source:HGNC Symbol;Acc:HGNC:3686]
Synonyms: HH6, AIGF, HBGF-8, KAL6, FGF-8
Other ID(s): HGNC:3686, ENSG00000107831
Protein Accession Numbers: NP_006110, ENST00000347978, ENST00000320185.2, NP_149354, NP_001193318, ENST00000346714, ENST00000320185, NP_149353, ENST00000469792, ENST00000344255, NP_149355
Statistics: gnomAD(92)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000320185 ENST00000344255 ENST00000346714 ENST00000347978 ENST00000469792 NP_001193318 NP_006110 NP_149353 NP_149354 NP_149355


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00167 FGF Fibroblast growth factor 81-204 CL0066 Trefoil Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cleft upper lip Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
DiGeorge Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Kallmann Syndrome Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Shprintzen syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Cardiovascular Abnormalities Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Idiopathic hypogonadotropic hypogonadism Endocrine System Diseases ; 0.543 0.655
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Lobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Alobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Semilobar Holoprosencephaly Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
CONOTRUNCAL ANOMALY FACE SYNDROME Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Kallmann Syndrome 1 Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Kallmann Syndrome 2 (disorder) Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
Cleft palate, isolated Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.543 0.655
Kallmann syndrome, type 3, recessive Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
22q11 Deletion Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.543 0.655
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA N/A 0.543 0.655
NO RESULT FOUND
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