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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This page reads the pathway's record from its source while you read the rest; with scripts off the card stays at its loading line. Reload with scripts on to see it, or open the source's own page from the link in the card.

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 2026-10-05 ET · Reactome pathway browser"Disease". Reactome, release 97, https://reactome.org/PathwayBrowser/#/R-HSA-1643685 with StableID: R-HSA-1643685.19 (accessed 2026-10-05 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 1,101 to 1,200, in pages of 100, sorted by symbol for reading. The order carries no ranking.

Genes Reactome places in this human pathway, page 12 of 26
Gene	Authority id	Mapping file id	Evidence codes
GeneLRP6	AuthorityHGNC:6698	Mapping file id4040 NCBI file	EvidenceTAS
GeneLRRFIP1	AuthorityHGNC:6702	Mapping file id9208 NCBI file	EvidenceTAS
GeneLTF	AuthorityHGNC:6720	Mapping file id4057 NCBI file	EvidenceTAS
GeneLUM	AuthorityHGNC:6724	Mapping file id4060 NCBI file	EvidenceTAS
GeneLY6E	AuthorityHGNC:6727	Mapping file id4061 NCBI file	EvidenceTAS
GeneLY96	AuthorityHGNC:17156	Mapping file id23643 NCBI file	EvidenceTAS
GeneLYN	AuthorityHGNC:6735	Mapping file id4067 NCBI file	EvidenceTAS
GeneMAGT1	AuthorityHGNC:28880	Mapping file id84061 NCBI file	EvidenceTAS
GeneMAML1	AuthorityHGNC:13632	Mapping file id9794 NCBI file	EvidenceTAS
GeneMAML2	AuthorityHGNC:16259	Mapping file id84441 NCBI file	EvidenceTAS
GeneMAML3	AuthorityHGNC:16272	Mapping file id55534 NCBI file	EvidenceTAS
GeneMAMLD1	AuthorityHGNC:2568	Mapping file id10046 NCBI file	EvidenceTAS
GeneMAN1B1	AuthorityHGNC:6823	Mapping file id11253 NCBI file	EvidenceTAS
GeneMAN2A1	AuthorityHGNC:6824	Mapping file id4124 NCBI file	EvidenceTAS
GeneMAOA	AuthorityHGNC:6833	Mapping file id4128 NCBI file	EvidenceTAS
GeneMAP1B	AuthorityHGNC:6836	Mapping file id4131 NCBI file	EvidenceTAS
GeneMAP1LC3B	AuthorityHGNC:13352	Mapping file id81631 NCBI file	EvidenceIEA, TAS
GeneMAP2K1	AuthorityHGNC:6840	Mapping file id5604 NCBI file	EvidenceTAS
GeneMAP2K2	AuthorityHGNC:6842	Mapping file id5605 NCBI file	EvidenceTAS
GeneMAP2K3	AuthorityHGNC:6843	Mapping file id5606 NCBI file	EvidenceTAS
GeneMAP2K4	AuthorityHGNC:6844	Mapping file id6416 NCBI file	EvidenceTAS
GeneMAP2K6	AuthorityHGNC:6846	Mapping file id5608 NCBI file	EvidenceTAS
GeneMAP2K7	AuthorityHGNC:6847	Mapping file id5609 NCBI file	EvidenceTAS
GeneMAP3K11	AuthorityHGNC:6850	Mapping file id4296 NCBI file	EvidenceTAS
GeneMAP3K7	AuthorityHGNC:6859	Mapping file id6885 NCBI file	EvidenceTAS
GeneMAPK1	AuthorityHGNC:6871	Mapping file id5594 NCBI file	EvidenceTAS
GeneMAPK14	AuthorityHGNC:6876	Mapping file id1432 NCBI file	EvidenceTAS
GeneMAPK3	AuthorityHGNC:6877	Mapping file id5595 NCBI file	EvidenceTAS
GeneMAPK8	AuthorityHGNC:6881	Mapping file id5599 NCBI file	EvidenceTAS
GeneMAPK9	AuthorityHGNC:6886	Mapping file id5601 NCBI file	EvidenceTAS
GeneMAPKAP1	AuthorityHGNC:18752	Mapping file id79109 NCBI file	EvidenceTAS
GeneMAPRE3	AuthorityHGNC:6892	Mapping file id22924 NCBI file	EvidenceTAS
GeneMARK3	AuthorityHGNC:6897	Mapping file id4140 NCBI file	EvidenceTAS
GeneMASP1	AuthorityHGNC:6901	Mapping file id5648 NCBI file	EvidenceTAS
GeneMASP2	AuthorityHGNC:6902	Mapping file id10747 NCBI file	EvidenceTAS
GeneMAT1A	AuthorityHGNC:6903	Mapping file id4143 NCBI file	EvidenceTAS
GeneMAVS	AuthorityHGNC:29233	Mapping file id57506 NCBI file	EvidenceTAS
GeneMBD3	AuthorityHGNC:6918	Mapping file id53615 NCBI file	EvidenceTAS
GeneMBL2	AuthorityHGNC:6922	Mapping file id4153 NCBI file	EvidenceTAS
GeneMC2R	AuthorityHGNC:6930	Mapping file id4158 NCBI file	EvidenceTAS
GeneMCCC1	AuthorityHGNC:6936	Mapping file id56922 NCBI file	EvidenceTAS
GeneMCCC2	AuthorityHGNC:6937	Mapping file id64087 NCBI file	EvidenceTAS
GeneMCL1	AuthorityHGNC:6943	Mapping file id4170 NCBI file	EvidenceTAS
GeneMDM2	AuthorityHGNC:6973	Mapping file id4193 NCBI file	EvidenceTAS
GeneMECP2	AuthorityHGNC:6990	Mapping file id4204 NCBI file	EvidenceIEA, TAS
GeneMED1	AuthorityHGNC:9234	Mapping file id5469 NCBI file	EvidenceTAS
GeneMED10	AuthorityHGNC:28760	Mapping file id84246 NCBI file	EvidenceTAS
GeneMED11	AuthorityHGNC:32687	Mapping file id400569 NCBI file	EvidenceTAS
GeneMED12	AuthorityHGNC:11957	Mapping file id9968 NCBI file	EvidenceTAS
GeneMED13	AuthorityHGNC:22474	Mapping file id9969 NCBI file	EvidenceTAS
GeneMED13L	AuthorityHGNC:22962	Mapping file id23389 NCBI file	EvidenceTAS
GeneMED14	AuthorityHGNC:2370	Mapping file id9282 NCBI file	EvidenceTAS
GeneMED15	AuthorityHGNC:14248	Mapping file id51586 NCBI file	EvidenceTAS
GeneMED16	AuthorityHGNC:17556	Mapping file id10025 NCBI file	EvidenceTAS
GeneMED17	AuthorityHGNC:2375	Mapping file id9440 NCBI file	EvidenceTAS
GeneMED18	AuthorityHGNC:25944	Mapping file id54797 NCBI file	EvidenceTAS
GeneMED19	AuthorityHGNC:29600	Mapping file id219541 NCBI file	EvidenceTAS
GeneMED20	AuthorityHGNC:16840	Mapping file id9477 NCBI file	EvidenceTAS
GeneMED21	AuthorityHGNC:11473	Mapping file id9412 NCBI file	EvidenceTAS
GeneMED22	AuthorityHGNC:11477	Mapping file id6837 NCBI file	EvidenceTAS
GeneMED23	AuthorityHGNC:2372	Mapping file id9439 NCBI file	EvidenceTAS
GeneMED24	AuthorityHGNC:22963	Mapping file id9862 NCBI file	EvidenceTAS
GeneMED25	AuthorityHGNC:28845	Mapping file id81857 NCBI file	EvidenceTAS
GeneMED26	AuthorityHGNC:2376	Mapping file id9441 NCBI file	EvidenceTAS
GeneMED27	AuthorityHGNC:2377	Mapping file id9442 NCBI file	EvidenceTAS
GeneMED28	AuthorityHGNC:24628	Mapping file id80306 NCBI file	EvidenceTAS
GeneMED29	AuthorityHGNC:23074	Mapping file id55588 NCBI file	EvidenceTAS
GeneMED30	AuthorityHGNC:23032	Mapping file id90390 NCBI file	EvidenceTAS
GeneMED31	AuthorityHGNC:24260	Mapping file id51003 NCBI file	EvidenceTAS
GeneMED4	AuthorityHGNC:17903	Mapping file id29079 NCBI file	EvidenceTAS
GeneMED6	AuthorityHGNC:19970	Mapping file id10001 NCBI file	EvidenceTAS
GeneMED7	AuthorityHGNC:2378	Mapping file id9443 NCBI file	EvidenceTAS
GeneMED8	AuthorityHGNC:19971	Mapping file id112950 NCBI file	EvidenceTAS
GeneMED9	AuthorityHGNC:25487	Mapping file id55090 NCBI file	EvidenceTAS
GeneMEFV	AuthorityHGNC:6998	Mapping file id4210 NCBI file	EvidenceTAS
GeneMERTK	AuthorityHGNC:7027	Mapping file id10461 NCBI file	EvidenceTAS
GeneMET	AuthorityHGNC:7029	Mapping file id4233 NCBI file	EvidenceIEA, TAS
GeneMGAT1	AuthorityHGNC:7044	Mapping file id4245 NCBI file	EvidenceTAS
GeneMGAT2	AuthorityHGNC:7045	Mapping file id4247 NCBI file	EvidenceTAS
GeneMGAT4A	AuthorityHGNC:7047	Mapping file id11320 NCBI file	EvidenceTAS
GeneMGAT4B	AuthorityHGNC:7048	Mapping file id11282 NCBI file	EvidenceTAS
GeneMGAT4C	AuthorityHGNC:30871	Mapping file id25834 NCBI file	EvidenceTAS
GeneMGAT5	AuthorityHGNC:7049	Mapping file id4249 NCBI file	EvidenceTAS
GeneMIB1	AuthorityHGNC:21086	Mapping file id57534 NCBI file	EvidenceTAS
GeneMIB2	AuthorityHGNC:30577	Mapping file id142678 NCBI file	EvidenceTAS
GeneMIR21	AuthorityHGNC:31586	Mapping file idENSG00000284190 Ensembl file	EvidenceTAS
GeneMLH1	AuthorityHGNC:7127	Mapping file id4292 NCBI file	EvidenceTAS
GeneMLKL	AuthorityHGNC:26617	Mapping file id197259 NCBI file	EvidenceTAS
GeneMLST8	AuthorityHGNC:24825	Mapping file id64223 NCBI file	EvidenceTAS
GeneMMAA	AuthorityHGNC:18871	Mapping file id166785 NCBI file	EvidenceTAS
GeneMMAB	AuthorityHGNC:19331	Mapping file id326625 NCBI file	EvidenceTAS
GeneMMACHC	AuthorityHGNC:24525	Mapping file id25974 NCBI file	EvidenceTAS
GeneMMADHC	AuthorityHGNC:25221	Mapping file id27249 NCBI file	EvidenceTAS
GeneMMP9	AuthorityHGNC:7176	Mapping file id4318 NCBI file	EvidenceTAS
GeneMMUT	AuthorityHGNC:7526	Mapping file id4594 NCBI file	EvidenceTAS
GeneMNAT1	AuthorityHGNC:7181	Mapping file id4331 NCBI file	EvidenceIEA
GeneMOGS	AuthorityHGNC:24862	Mapping file id7841 NCBI file	EvidenceTAS
GeneMOV10	AuthorityHGNC:7200	Mapping file id4343 NCBI file	EvidenceTAS
GeneMPDU1	AuthorityHGNC:7207	Mapping file id9526 NCBI file	EvidenceTAS
GeneMPI	AuthorityHGNC:7216	Mapping file id4351 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.