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Gene: F9 (coagulation factor IX) Homo sapiens
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Symbol: F9
Name: coagulation factor IX
Description: This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Christmas factor; coagulation factor 9; coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B); F9 p22; factor 9; factor IX F9; FIX; FIX F9; HEMB; MGC129641; MGC129642; P19; plasma thromboplastic component; plasma thromboplastin component; PTC; serine protease; THPH8
Orthologs:
Mus musculus (house mouse) : F9 (coagulation factor IX)  MGI  Alliance
Rattus norvegicus (Norway rat) : F9 (coagulation factor IX)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : F9 (coagulation factor IX)
Pan paniscus (bonobo/pygmy chimpanzee) : F9 (coagulation factor IX)
Canis lupus familiaris (dog) : F9 (coagulation factor IX)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : F9 (coagulation factor IX)
Sus scrofa (pig) : F9 (coagulation factor IX)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X139,530,720 - 139,563,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,612,889 - 138,645,617 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,440,561 - 138,473,283 (+)NCBINCBI36hg18NCBI36
Build 34X138,338,414 - 138,371,137NCBI
CeleraX138,980,334 - 139,013,056 (+)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX127,880,671 - 127,913,025 (+)NCBIHuRef
CHM1_1X138,523,783 - 138,556,510 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on F9
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735620
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.