Reactome | Non-secretable F9 variant [endoplasmic reticulum lumen]

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Non-secretable F9 variant [endoplasmic reticulum lumen] Show undefined attributes

compartment	[Compartment:17957] endoplasmic reticulum lumen
consumedByEvent	[FailedReaction:R-HSA-9670888] F9 variant is not secreted - Homo sapiens
created	[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9670852
disease	[Disease:9670882] hemophilia B
displayName	Non-secretable F9 variant [endoplasmic reticulum lumen]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9672447] F9(29-461) R162* [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672840] F9(29-461) C28* [endoplasmic reticulum lumen] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9670822] F9(29-461) Y450C [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670848] F9(29-461) C155Y [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670915] F9(29-461) W453R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670867] F9(29-461) T458K [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670810] F9(29-461) V153V [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670850] F9(29-461) C117Y [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672452] F9(29-461) R162R [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672442] F9(29-461) A164V [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672445] F9(29-461) Q167H [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672451] F9(29-461) L163F [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672455] F9(29-461) C28_V30delinsF [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672841] F9(29-461) R294* [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672852] F9(29-461) R298* [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672848] F9(29-461) Y330* [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672831] F9(29-461) R384* [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9672886] F9(29-461) R294Q [endoplasmic reticulum lumen] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9670906] Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity [LiteratureReference:9670806] The carboxyl-terminal region of factor IX is essential for its secretion [LiteratureReference:9670691] Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion [LiteratureReference:9670892] Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B [LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function [LiteratureReference:9672420] Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing [LiteratureReference:9672824] Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations [LiteratureReference:9672847] Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B [LiteratureReference:9672822] Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations [LiteratureReference:9672890] The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation [LiteratureReference:9673136] Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
maxDepth	2
modified	[InstanceEdit:9673155] Shamovsky, Veronica, 2020-01-06
name	Non-secretable F9 variant
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9670852

Referrals

(input)	[FailedReaction:R-HSA-9670888] F9 variant is not secreted
(diseaseEntity)	[EntityFunctionalStatus:9670865] loss_of_function of Non-secretable F9 variant [endoplasmic reticulum lumen]

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