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 1,201 to 1,300, in pages of 100, sorted by symbol for reading. The order carries no ranking.

Genes Reactome places in this human pathway, page 13 of 26
Gene	Authority id	Mapping file id	Evidence codes
GeneMPRIP	AuthorityHGNC:30321	Mapping file id23164 NCBI file	EvidenceTAS
GeneMRAS	AuthorityHGNC:7227	Mapping file id22808 NCBI file	EvidenceTAS
GeneMRC1	AuthorityHGNC:7228	Mapping file id4360 NCBI file	EvidenceTAS
GeneMRE11	AuthorityHGNC:7230	Mapping file id4361 NCBI file	EvidenceTAS
GeneMSH2	AuthorityHGNC:7325	Mapping file id4436 NCBI file	EvidenceTAS
GeneMSH3	AuthorityHGNC:7326	Mapping file id4437 NCBI file	EvidenceTAS
GeneMSH6	AuthorityHGNC:7329	Mapping file id2956 NCBI file	EvidenceTAS
GeneMSN	AuthorityHGNC:7373	Mapping file id4478 NCBI file	EvidenceTAS
GeneMTA1	AuthorityHGNC:7410	Mapping file id9112 NCBI file	EvidenceTAS
GeneMTA2	AuthorityHGNC:7411	Mapping file id9219 NCBI file	EvidenceTAS
GeneMTA3	AuthorityHGNC:23784	Mapping file id57504 NCBI file	EvidenceTAS
GeneMTOR	AuthorityHGNC:3942	Mapping file id2475 NCBI file	EvidenceTAS
GeneMTR	AuthorityHGNC:7468	Mapping file id4548 NCBI file	EvidenceTAS
GeneMTRR	AuthorityHGNC:7473	Mapping file id4552 NCBI file	EvidenceTAS
GeneMUC1	AuthorityHGNC:7508	Mapping file id4582 NCBI file	EvidenceTAS
GeneMUC12	AuthorityHGNC:7510	Mapping file id10071 NCBI file	EvidenceTAS
GeneMUC13	AuthorityHGNC:7511	Mapping file id56667 NCBI file	EvidenceTAS
GeneMUC15	AuthorityHGNC:14956	Mapping file id143662 NCBI file	EvidenceTAS
GeneMUC16	AuthorityHGNC:15582	Mapping file id94025 NCBI file	EvidenceTAS
GeneMUC17	AuthorityHGNC:16800	Mapping file id140453 NCBI file	EvidenceTAS
GeneMUC19	AuthorityHGNC:14362	Mapping file id283463 NCBI file	EvidenceTAS
GeneMUC2	AuthorityHGNC:7512	Mapping file id4583 NCBI file	EvidenceTAS
GeneMUC20	AuthorityHGNC:23282	Mapping file id200958 NCBI file	EvidenceTAS
GeneMUC21	AuthorityHGNC:21661	Mapping file id394263 NCBI file	EvidenceTAS
GeneMUC3A	AuthorityHGNC:7513	Mapping file id4584 NCBI file	EvidenceTAS
GeneMUC4	AuthorityHGNC:7514	Mapping file id4585 NCBI file	EvidenceTAS
GeneMUC5AC	AuthorityHGNC:7515	Mapping file id4586 NCBI file	EvidenceTAS
GeneMUC5B	AuthorityHGNC:7516	Mapping file id727897 NCBI file	EvidenceTAS
GeneMUC6	AuthorityHGNC:7517	Mapping file id4588 NCBI file	EvidenceTAS
GeneMUC7	AuthorityHGNC:7518	Mapping file id4589 NCBI file	EvidenceTAS
GeneMUCL1	AuthorityHGNC:30588	Mapping file id118430 NCBI file	EvidenceTAS
GeneMUTYH	AuthorityHGNC:7527	Mapping file id4595 NCBI file	EvidenceIEA, TAS
GeneMVB12A	AuthorityHGNC:25153	Mapping file id93343 NCBI file	EvidenceTAS
GeneMVB12B	AuthorityHGNC:23368	Mapping file id89853 NCBI file	EvidenceTAS
GeneMYC	AuthorityHGNC:7553	Mapping file id4609 NCBI file	EvidenceTAS
GeneMYD88	AuthorityHGNC:7562	Mapping file id4615 NCBI file	EvidenceTAS
GeneMYH2	AuthorityHGNC:7572	Mapping file id4620 NCBI file	EvidenceTAS
GeneMYH9	AuthorityHGNC:7579	Mapping file id4627 NCBI file	EvidenceTAS
GeneMYO10	AuthorityHGNC:7593	Mapping file id4651 NCBI file	EvidenceTAS
GeneMYO18A	AuthorityHGNC:31104	Mapping file id399687 NCBI file	EvidenceIEA, TAS
GeneMYO1C	AuthorityHGNC:7597	Mapping file id4641 NCBI file	EvidenceTAS
GeneMYO5A	AuthorityHGNC:7602	Mapping file id4644 NCBI file	EvidenceTAS
GeneMYO9B	AuthorityHGNC:7609	Mapping file id4650 NCBI file	EvidenceTAS
GeneNACA	AuthorityHGNC:7629	Mapping file id4666 NCBI file	EvidenceTAS
GeneNAGLU	AuthorityHGNC:7632	Mapping file id4669 NCBI file	EvidenceTAS
GeneNAGS	AuthorityHGNC:17996	Mapping file id162417 NCBI file	EvidenceTAS
GeneNAPEPLD	AuthorityHGNC:21683	Mapping file id222236 NCBI file	EvidenceTAS
GeneNBN	AuthorityHGNC:7652	Mapping file id4683 NCBI file	EvidenceTAS
GeneNCAN	AuthorityHGNC:2465	Mapping file id1463 NCBI file	EvidenceTAS
GeneNCBP1	AuthorityHGNC:7658	Mapping file id4686 NCBI file	EvidenceIEA, TAS
GeneNCBP2	AuthorityHGNC:7659	Mapping file id22916 NCBI file	EvidenceIEA, TAS
GeneNCK1	AuthorityHGNC:7664	Mapping file id4690 NCBI file	EvidenceIEA, TAS
GeneNCKAP1	AuthorityHGNC:7666	Mapping file id10787 NCBI file	EvidenceIEA, TAS
GeneNCKAP1L	AuthorityHGNC:4862	Mapping file id3071 NCBI file	EvidenceIEA, TAS
GeneNCKIPSD	AuthorityHGNC:15486	Mapping file id51517 NCBI file	EvidenceIEA, TAS
GeneNCOR1	AuthorityHGNC:7672	Mapping file id9611 NCBI file	EvidenceIEA, TAS
GeneNCOR2	AuthorityHGNC:7673	Mapping file id9612 NCBI file	EvidenceIEA, TAS
GeneNCSTN	AuthorityHGNC:17091	Mapping file id23385 NCBI file	EvidenceTAS
GeneNDC1	AuthorityHGNC:25525	Mapping file id55706 NCBI file	EvidenceIEA, TAS
GeneNEDD4L	AuthorityHGNC:7728	Mapping file id23327 NCBI file	EvidenceTAS
GeneNEIL1	AuthorityHGNC:18448	Mapping file id79661 NCBI file	EvidenceTAS
GeneNEIL3	AuthorityHGNC:24573	Mapping file id55247 NCBI file	EvidenceTAS
GeneNEK2	AuthorityHGNC:7745	Mapping file id4751 NCBI file	EvidenceTAS
GeneNELFA	AuthorityHGNC:12768	Mapping file id7469 NCBI file	EvidenceIEA, TAS
GeneNELFB	AuthorityHGNC:24324	Mapping file id25920 NCBI file	EvidenceIEA, TAS
GeneNELFCD	AuthorityHGNC:15934	Mapping file id51497 NCBI file	EvidenceIEA, TAS
GeneNELFE	AuthorityHGNC:13974	Mapping file id7936 NCBI file	EvidenceIEA, TAS
GeneNEU1	AuthorityHGNC:7758	Mapping file id4758 NCBI file	EvidenceTAS
GeneNEURL1	AuthorityHGNC:7761	Mapping file id9148 NCBI file	EvidenceTAS
GeneNEURL1B	AuthorityHGNC:35422	Mapping file id54492 NCBI file	EvidenceTAS
GeneNF1	AuthorityHGNC:7765	Mapping file id4763 NCBI file	EvidenceTAS
GeneNFE2L2	AuthorityHGNC:7782	Mapping file id4780 NCBI file	EvidenceTAS
GeneNFKB1	AuthorityHGNC:7794	Mapping file id4790 NCBI file	EvidenceTAS
GeneNFKB2	AuthorityHGNC:7795	Mapping file id4791 NCBI file	EvidenceTAS
GeneNFKBIA	AuthorityHGNC:7797	Mapping file id4792 NCBI file	EvidenceTAS
GeneNFKBIB	AuthorityHGNC:7798	Mapping file id4793 NCBI file	EvidenceTAS
GeneNHERF4	AuthorityHGNC:19891	Mapping file id79849 NCBI file	EvidenceTAS
GeneNHLRC1	AuthorityHGNC:21576	Mapping file id378884 NCBI file	EvidenceTAS
GeneNLRP12	AuthorityHGNC:22938	Mapping file id91662 NCBI file	EvidenceTAS
GeneNLRP3	AuthorityHGNC:16400	Mapping file id114548 NCBI file	EvidenceIEA, TAS
GeneNMI	AuthorityHGNC:7854	Mapping file id9111 NCBI file	EvidenceTAS
GeneNMRAL1	AuthorityHGNC:24987	Mapping file id57407 NCBI file	EvidenceTAS
GeneNMT1	AuthorityHGNC:7857	Mapping file id4836 NCBI file	EvidenceTAS
GeneNMT2	AuthorityHGNC:7858	Mapping file id9397 NCBI file	EvidenceTAS
GeneNOD1	AuthorityHGNC:16390	Mapping file id10392 NCBI file	EvidenceTAS
GeneNOD2	AuthorityHGNC:5331	Mapping file id64127 NCBI file	EvidenceTAS
GeneNOS2	AuthorityHGNC:7873	Mapping file id4843 NCBI file	EvidenceTAS
GeneNOTCH1	AuthorityHGNC:7881	Mapping file id4851 NCBI file	EvidenceTAS
GeneNOTCH2	AuthorityHGNC:7882	Mapping file id4853 NCBI file	EvidenceTAS
GeneNOTCH3	AuthorityHGNC:7883	Mapping file id4854 NCBI file	EvidenceTAS
GeneNOTCH4	AuthorityHGNC:7884	Mapping file id4855 NCBI file	EvidenceTAS
GeneNOX1	AuthorityHGNC:7889	Mapping file id27035 NCBI file	EvidenceTAS
GeneNOX4	AuthorityHGNC:7891	Mapping file id50507 NCBI file	EvidenceTAS
GeneNOXA1	AuthorityHGNC:10668	Mapping file id10811 NCBI file	EvidenceTAS
GeneNOXO1	AuthorityHGNC:19404	Mapping file id124056 NCBI file	EvidenceTAS
GeneNPIPB3	AuthorityHGNC:28989	Mapping file idENSG00000169246 Ensembl file	EvidenceTAS
GeneNPLOC4	AuthorityHGNC:18261	Mapping file id55666 NCBI file	EvidenceTAS
GeneNPM1	AuthorityHGNC:7910	Mapping file id4869 NCBI file	EvidenceIEA, TAS
GeneNR3C1	AuthorityHGNC:7978	Mapping file id2908 NCBI file	EvidenceTAS
GeneNR4A1	AuthorityHGNC:7980	Mapping file id3164 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.