Pathway Human Homo sapiens

Disease

R-HSA-1643685 in Reactome release 97: a top-level pathway, with 2,550 genes placed in it by the mapping files and 12 child pathways in the hierarchy.

The same number in the other species

Reactome writes the mouse and rat events it infers from a human pathway under the human number with the species token. A door opens only where that species' own list in this release holds the id; neither of the other two lists holds it. Whether the event was inferred from this one is what the record says.

The record
The genes
Parents and children

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01The record

Reactome's own record of this pathway

What this tells you

The pathway list, the hierarchy and the genes on this page are read from the files Reactome publishes for Reactome release 97, built into this site on 2026-09-09: the pathway list, the hierarchy relationship file and the two gene mapping files. The record card is the one live read, Reactome's own record of this pathway.

Reactome's download page describes the mapping files: Mapping files link the source database identifier to the lowest level pathway diagram or subset of the pathway, all levels of the pathway hierarchy or database identifier to all reactions. [R13] The gene list here is the all-levels mapping of NCBI Gene ids, filled from the all-levels mapping of Ensembl ids where the NCBI file has no row for a gene; each row names which file it came from by the shape of its source id. Each row carries the evidence codes the file writes for it, as written and unranked, and both where the file writes both; no page of Reactome's documentation the survey read defines the codes, so this page does not expand them. A gene id the identity files do not name is kept as the source's own id with no door rather than turned into a symbol.

On citing what a search finds, Reactome says: It should be remembered that while we strive to contain the most current and accurate data, Reactome should not be used in citations where other primary sources of information are available. [R12] The record card prints the literature Reactome attaches to a curated pathway for that reason. The data are public domain: All data in the Reactome database and files derived from that data are licensed under the Creative Commons Public Domain Dedication (CC0). User may copy, modify, and distribute these data, even for commercial purposes, without asking for permission. Attribution is encouraged but not required. [R10] The pathway illustrations are licensed apart, under CC BY 4.0, and none is shown here.

A gene on this list is one Reactome places in this pathway in this release, and that is all the row says: it does not say the gene is expressed in a tissue or associated with a disease, which are the other two explorers' questions, read from other sources. Reactome's papers of record are [R01] [R02].

[R01] Ragueneau E, Gong C, Sinquin P, Sevilla C, Beavers D, Grentner A, et al. (2026). The Reactome Knowledgebase 2026. Nucleic Acids Research 54:D673-D681. PMID 41251150, doi 10.1093/nar/gkaf1223.
[R02] Milacic M, Beavers D, Conley P, Gong C, Gillespie M, Griss J, et al. (2024). The Reactome Pathway Knowledgebase 2024. Nucleic Acids Research 52:D672-D678. PMID 37941124, doi 10.1093/nar/gkad1025.
[R10] Reactome, reactome.org. License Agreement. https://reactome.org/license, read 2026-09-09.
[R12] Reactome, reactome.org. Citing us. https://reactome.org/cite, read 2026-09-09.
[R13] Reactome, reactome.org. Download. https://reactome.org/download-data, read 2026-09-09.

Stable id: R-HSA-1643685.19
Class: TopLevelPathway
Species: Homo sapiens (human)
Inferred: no: a curated human pathway
Disease pathway: yes, as Reactome flags it
Released: 2011-12-06
Last updated: 2023-06-07
Events inside: 12, counted from the record

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.

The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.

Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

Depending on the biological pathway/process immediately affected by disease-causing gene variants, non-infectious diseases in Reactome are organized into diseases of signal transduction by growth factore receptors and second messengers, diseases of mitotic cell cycle, diseases of cellular response to stress, diseases of programmed cell death, diseases of DNA repair, disorders of transmembrane transporters, diseases of metabolism, diseases of immune system, diseases of neuronal system, disorders of developmental biology, disorders of extracellular matrix organization, and diseases of hemostatis.

Literature Reactome attaches

Reactome's record attaches no literature to this pathway.

Reactome ContentService, this pathway's record · Reactome v97 · read 2026-10-06 ET · Reactome pathway browser"Disease". Reactome, release 97, https://reactome.org/PathwayBrowser/#/R-HSA-1643685 with StableID: R-HSA-1643685.19 (accessed 2026-10-06 ET). Reactome version 97 (CC0).

Reading this pathway's record from Reactome (the pathway record).Still reading. A first read of a pathway can take a while; this page waits up to 35 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.

02The genes

Genes Reactome places in this human pathway

The mapping files place 2,550 genes in this human pathway; showing 2,101 to 2,200, in pages of 100, sorted by symbol for reading. The order carries no ranking. 48 of the rows shown carry an id the identity file does not name, kept as the source wrote it.

Genes Reactome places in this human pathway, page 22 of 26
Gene	Authority id	Mapping file id	Evidence codes
GeneVPS41	AuthorityHGNC:12713	Mapping file id27072 NCBI file	EvidenceTAS
GeneVPS45	AuthorityHGNC:14579	Mapping file id11311 NCBI file	EvidenceTAS
GeneVPS4A	AuthorityHGNC:13488	Mapping file id27183 NCBI file	EvidenceTAS
GeneVPS4B	AuthorityHGNC:10895	Mapping file id9525 NCBI file	EvidenceTAS
GeneVTA1	AuthorityHGNC:20954	Mapping file id51534 NCBI file	EvidenceTAS
GeneVTN	AuthorityHGNC:12724	Mapping file id7448 NCBI file	EvidenceTAS
GeneVWF	AuthorityHGNC:12726	Mapping file id7450 NCBI file	EvidenceTAS
GeneWAS	AuthorityHGNC:12731	Mapping file id7454 NCBI file	EvidenceIEA, TAS
GeneWASF1	AuthorityHGNC:12732	Mapping file id8936 NCBI file	EvidenceIEA, TAS
GeneWASF2	AuthorityHGNC:12733	Mapping file id10163 NCBI file	EvidenceIEA, TAS
GeneWASF3	AuthorityHGNC:12734	Mapping file id10810 NCBI file	EvidenceIEA, TAS
GeneWASL	AuthorityHGNC:12735	Mapping file id8976 NCBI file	EvidenceIEA, TAS
GeneWBP11	AuthorityHGNC:16461	Mapping file id51729 NCBI file	EvidenceTAS
GeneWDCP	AuthorityHGNC:26157	Mapping file id80304 NCBI file	EvidenceTAS
GeneWDR33	AuthorityHGNC:25651	Mapping file id55339 NCBI file	EvidenceTAS
GeneWDR48	AuthorityHGNC:30914	Mapping file id57599 NCBI file	EvidenceTAS
GeneWDR5	AuthorityHGNC:12757	Mapping file id11091 NCBI file	EvidenceTAS
GeneWIPF1	AuthorityHGNC:12736	Mapping file id7456 NCBI file	EvidenceIEA, TAS
GeneWIPF2	AuthorityHGNC:30923	Mapping file id147179 NCBI file	EvidenceIEA, TAS
GeneWIPF3	AuthorityHGNC:22004	Mapping file id644150 NCBI file	EvidenceIEA, TAS
GeneWNT3A	AuthorityHGNC:15983	Mapping file id89780 NCBI file	EvidenceTAS
GeneWNT5A	AuthorityHGNC:12784	Mapping file id7474 NCBI file	EvidenceIEA, TAS
GeneWRN	AuthorityHGNC:12791	Mapping file id7486 NCBI file	EvidenceTAS
GeneXAB2	AuthorityHGNC:14089	Mapping file id56949 NCBI file	EvidenceTAS
GeneXPO1	AuthorityHGNC:12825	Mapping file id7514 NCBI file	EvidenceTAS
GeneXRCC2	AuthorityHGNC:12829	Mapping file id7516 NCBI file	EvidenceTAS
GeneXRCC4	AuthorityHGNC:12831	Mapping file id7518 NCBI file	EvidenceTAS
GeneXRCC5	AuthorityHGNC:12833	Mapping file id7520 NCBI file	EvidenceTAS
GeneXRCC6	AuthorityHGNC:4055	Mapping file id2547 NCBI file	EvidenceTAS
GeneXRN1	AuthorityHGNC:30654	Mapping file id54464 NCBI file	EvidenceTAS
GeneYBX1	AuthorityHGNC:8014	Mapping file id4904 NCBI file	EvidenceIEA, TAS
GeneYES1	AuthorityHGNC:12841	Mapping file id7525 NCBI file	EvidenceTAS
GeneYWHAB	AuthorityHGNC:12849	Mapping file id7529 NCBI file	EvidenceTAS
GeneYWHAE	AuthorityHGNC:12851	Mapping file id7531 NCBI file	EvidenceTAS
GeneYWHAG	AuthorityHGNC:12852	Mapping file id7532 NCBI file	EvidenceTAS
GeneYWHAH	AuthorityHGNC:12853	Mapping file id7533 NCBI file	EvidenceTAS
GeneYWHAQ	AuthorityHGNC:12854	Mapping file id10971 NCBI file	EvidenceTAS
GeneYWHAZ	AuthorityHGNC:12855	Mapping file id7534 NCBI file	EvidenceTAS
GeneZAP70	AuthorityHGNC:12858	Mapping file id7535 NCBI file	EvidenceTAS
GeneZBP1	AuthorityHGNC:16176	Mapping file id81030 NCBI file	EvidenceTAS
GeneZC3HAV1	AuthorityHGNC:23721	Mapping file id56829 NCBI file	EvidenceTAS
GeneZC3HC1	AuthorityHGNC:29913	Mapping file id51530 NCBI file	EvidenceTAS
GeneZCRB1	AuthorityHGNC:29620	Mapping file id85437 NCBI file	EvidenceIEA, TAS
GeneZDHHC11	AuthorityHGNC:19158	Mapping file id79844 NCBI file	EvidenceTAS
GeneZDHHC2	AuthorityHGNC:18469	Mapping file id51201 NCBI file	EvidenceTAS
GeneZDHHC20	AuthorityHGNC:20749	Mapping file id253832 NCBI file	EvidenceTAS
GeneZDHHC3	AuthorityHGNC:18470	Mapping file id51304 NCBI file	EvidenceTAS
GeneZDHHC5	AuthorityHGNC:18472	Mapping file id25921 NCBI file	EvidenceTAS
GeneZDHHC8	AuthorityHGNC:18474	Mapping file id29801 NCBI file	EvidenceTAS
GeneZDHHC9	AuthorityHGNC:18475	Mapping file id51114 NCBI file	EvidenceTAS
GeneZFYVE9	AuthorityHGNC:6775	Mapping file id9372 NCBI file	EvidenceTAS
GeneZMYM2	AuthorityHGNC:12989	Mapping file id7750 NCBI file	EvidenceIEA, TAS
Geneno symbol in the identity file	Authoritynone	Mapping file id1238024 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id1238048 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id13229470 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id13229472 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id13229473 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id1486086 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id1489680 NCBI file	EvidenceIEA, TAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155030 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155348 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155459 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155871 NCBI file	EvidenceIEA, TAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155908 NCBI file	EvidenceIEA, TAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155945 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id155971 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id156110 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id24255210 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id2703361 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id300072994 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077416 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077417 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077419 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077420 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077421 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077422 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077423 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077424 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077425 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077426 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077428 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077429 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077430 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077431 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077432 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077435 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077439 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077441 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077442 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077443 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077444 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077445 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077446 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077447 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077448 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077449 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077450 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077451 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077452 NCBI file	EvidenceTAS
Geneno symbol in the identity file	Authoritynone	Mapping file id3077454 NCBI file	EvidenceTAS

Evidence codes on this page: IEA, TAS, as the mapping file writes them; a row carrying two was written twice by the file, once under each. The mapping file id says which file placed the gene: an NCBI Gene id from NCBI2Reactome_All_Levels.txt, an Ensembl gene id from Ensembl2Reactome_All_Levels.txt. The two files can disagree about a code, so a row's codes are the one file's view. Measured by this site's build over this release on 2026-09-09: of the 138,908 human pathway-gene pairs both files place, 207 (0.149 per cent, over 47 genes) carry TAS in the Ensembl file where the NCBI rows carry IEA alone.

Reactome mapping files, the human rows for this pathway · Reactome release 97 · read 2026-09-09 · Reactome downloads"NCBI2Reactome_All_Levels.txt" and "Ensembl2Reactome_All_Levels.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.

03The hierarchy

Parents and children in this release's hierarchy

Parents

None: this is a top-level pathway of the release.

Children

Reactome's hierarchy is a graph rather than a tree: a pathway can sit under more than one parent, and the gene counts are each pathway's own placements at every level under it, so a parent's count is not the sum of its children's.

Reactome, the human pathway list and hierarchy relationship file · Reactome release 97 · read 2026-09-09 · Reactome downloads"ReactomePathways.txt" and "ReactomePathwaysRelation.txt", Reactome, release 97, https://reactome.org/download-data/ (date of access 2026-09-09). Data CC0; attribution encouraged.