Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2158
Gene name Gene Name - the full gene name approved by the HGNC.
Coagulation factor IX
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
F9
Synonyms (NCBI Gene) Gene synonyms aliases
F9 p22, FIX, HEMB, P19, PTC, THPH8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HEMB, THPH8
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq27.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 ch
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1801202 C>T Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs137852223 C>G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs137852224 T>C Likely-pathogenic Coding sequence variant, missense variant
rs137852226 A>T Pathogenic Coding sequence variant, missense variant
rs137852227 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT715255 hsa-miR-6845-3p HITS-CLIP 19536157
MIRT715254 hsa-miR-302b-5p HITS-CLIP 19536157
MIRT715253 hsa-miR-302d-5p HITS-CLIP 19536157
MIRT715252 hsa-miR-7106-3p HITS-CLIP 19536157
MIRT715255 hsa-miR-6845-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
CEBPA Activation 8075306
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 2592373, 20121197
GO:0004252 Function Serine-type endopeptidase activity NAS 8632006
GO:0005509 Function Calcium ion binding IDA 9169594, 14722079, 20121197
GO:0005515 Function Protein binding IPI 26157780, 26414444
GO:0005576 Component Extracellular region NAS 14718574
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300746 3551 ENSG00000101981
Protein
UniProt ID P00740
Protein name Coagulation factor IX (EC 3.4.21.22) (Christmas factor) (Plasma thromboplastin component) (PTC) [Cleaved into: Coagulation factor IXa light chain; Coagulation factor IXa heavy chain]
Protein function Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. {ECO:0000269|PubMed:1730
PDB 1CFH , 1CFI , 1EDM , 1IXA , 1MGX , 1NL0 , 1RFN , 2WPH , 2WPI , 2WPJ , 2WPK , 2WPL , 2WPM , 3KCG , 3LC3 , 3LC5 , 4WM0 , 4WMA , 4WMB , 4WMI , 4WMK , 4WN2 , 4WNH , 4YZU , 4Z0K , 4ZAE , 5EGM , 5F84 , 5F85 , 5F86 , 5JB8 , 5JB9 , 5JBA , 5JBB , 5JBC , 5TNO , 5TNT , 5VYG , 6MV4 , 6RFK , 6X5J , 6X5L , 6X5P , 7AHV , 8EPC , 8EPH , 8EPK , 8OL9 , 9BVK , 9BVR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00594 Gla 52 92 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain Domain
PF00008 EGF 97 127 EGF-like domain Domain
PF14670 FXa_inhibition 134 170 Domain
PF00089 Trypsin 227 454 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Detected in blood plasma (at protein level) (PubMed:19846852, PubMed:2592373, PubMed:3857619, PubMed:8295821, PubMed:9169594). Synthesized primarily in the liver and secreted in plasma. {ECO:0000269|PubMed:19846852, ECO:0000269|PubMed:
Sequence
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Complement and coagulation cascades   Extrinsic Pathway of Fibrin Clot Formation
Intrinsic Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Hemophilia Hemophilia B, Hemophilia A rs1178811105, rs2147483647, rs137852241, rs137852243, rs1927322453, rs1927322926, rs1166164399 3009023, 22639855, 18624698, 26612714, 1902289, 11122099, 29993188, 3401602, 12604421, 9452115, 9169594, 1346975, 2592373, 25470321, 1615485
View all (48 more)
Thrombophilia Thrombophilia rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154
View all (56 more)
Thrombophilia, x-linked Thrombophilia, X-Linked, Due To Factor Ix Defect rs137852372, rs137852428, rs137852435, rs137852467, rs137852238, rs137852283, rs369414658, rs781928603, rs781943956, rs942909873 2472424, 23093250, 19846852, 2198809, 1864609, 19699296, 25470321, 2066105, 27824213, 18624698, 22639855, 29993188, 1969838, 22544209
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 9132265
Blood Coagulation Disorders Associate 10970782, 2303434, 31219805, 34248840, 36285399, 3924593
Coagulation Protein Disorders Associate 2303434
COVID 19 Associate 34248840
Delirium Associate 37748302
Drug Hypersensitivity Associate 34187575
Exfoliation Syndrome Associate 38642601
Factor X Deficiency Associate 33190257
Factor XI Deficiency Associate 12586617, 15456490, 9787168
Genetic Diseases Inborn Associate 3461460