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 2026-10-02 ET · Reactome pathway browser"Disease". Reactome, release 97, https://reactome.org/PathwayBrowser/#/R-HSA-1643685 with StableID: R-HSA-1643685.19 (accessed 2026-10-02 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 301 to 400, in pages of 100, sorted by symbol for reading. The order carries no ranking.

Genes Reactome places in this human pathway, page 4 of 26
Gene	Authority id	Mapping file id	Evidence codes
GeneCDC16	AuthorityHGNC:1720	Mapping file id8881 NCBI file	EvidenceTAS
GeneCDC23	AuthorityHGNC:1724	Mapping file id8697 NCBI file	EvidenceTAS
GeneCDC25A	AuthorityHGNC:1725	Mapping file id993 NCBI file	EvidenceTAS
GeneCDC25B	AuthorityHGNC:1726	Mapping file id994 NCBI file	EvidenceTAS
GeneCDC25C	AuthorityHGNC:1727	Mapping file id995 NCBI file	EvidenceTAS
GeneCDC26	AuthorityHGNC:17839	Mapping file id246184 NCBI file	EvidenceTAS
GeneCDC27	AuthorityHGNC:1728	Mapping file id996 NCBI file	EvidenceTAS
GeneCDC37	AuthorityHGNC:1735	Mapping file id11140 NCBI file	EvidenceTAS
GeneCDC40	AuthorityHGNC:17350	Mapping file id51362 NCBI file	EvidenceTAS
GeneCDC42	AuthorityHGNC:1736	Mapping file id998 NCBI file	EvidenceIEA, TAS
GeneCDC5L	AuthorityHGNC:1743	Mapping file id988 NCBI file	EvidenceTAS
GeneCDC73	AuthorityHGNC:16783	Mapping file id79577 NCBI file	EvidenceTAS
GeneCDH1	AuthorityHGNC:1748	Mapping file id999 NCBI file	EvidenceTAS
GeneCDK19	AuthorityHGNC:19338	Mapping file id23097 NCBI file	EvidenceTAS
GeneCDK2	AuthorityHGNC:1771	Mapping file id1017 NCBI file	EvidenceTAS
GeneCDK4	AuthorityHGNC:1773	Mapping file id1019 NCBI file	EvidenceTAS
GeneCDK5	AuthorityHGNC:1774	Mapping file id1020 NCBI file	EvidenceIEA, TAS
GeneCDK5R1	AuthorityHGNC:1775	Mapping file id8851 NCBI file	EvidenceIEA, TAS
GeneCDK6	AuthorityHGNC:1777	Mapping file id1021 NCBI file	EvidenceTAS
GeneCDK7	AuthorityHGNC:1778	Mapping file id1022 NCBI file	EvidenceIEA
GeneCDK8	AuthorityHGNC:1779	Mapping file id1024 NCBI file	EvidenceTAS
GeneCDK9	AuthorityHGNC:1780	Mapping file id1025 NCBI file	EvidenceIEA, TAS
GeneCDKN1A	AuthorityHGNC:1784	Mapping file id1026 NCBI file	EvidenceTAS
GeneCDKN1B	AuthorityHGNC:1785	Mapping file id1027 NCBI file	EvidenceTAS
GeneCDKN1C	AuthorityHGNC:1786	Mapping file id1028 NCBI file	EvidenceTAS
GeneCDKN2A	AuthorityHGNC:1787	Mapping file id1029 NCBI file	EvidenceTAS
GeneCEBPB	AuthorityHGNC:1834	Mapping file id1051 NCBI file	EvidenceTAS
GeneCEBPD	AuthorityHGNC:1835	Mapping file id1052 NCBI file	EvidenceTAS
GeneCEP43	AuthorityHGNC:17012	Mapping file id11116 NCBI file	EvidenceTAS
GeneCFP	AuthorityHGNC:8864	Mapping file id5199 NCBI file	EvidenceTAS
GeneCFTR	AuthorityHGNC:1884	Mapping file id1080 NCBI file	EvidenceTAS
GeneCGAS	AuthorityHGNC:21367	Mapping file id115004 NCBI file	EvidenceTAS
GeneCHD3	AuthorityHGNC:1918	Mapping file id1107 NCBI file	EvidenceTAS
GeneCHD4	AuthorityHGNC:1919	Mapping file id1108 NCBI file	EvidenceTAS
GeneCHERP	AuthorityHGNC:16930	Mapping file id10523 NCBI file	EvidenceTAS
GeneCHMP1A	AuthorityHGNC:8740	Mapping file id5119 NCBI file	EvidenceTAS
GeneCHMP2A	AuthorityHGNC:30216	Mapping file id27243 NCBI file	EvidenceIEA, TAS
GeneCHMP2B	AuthorityHGNC:24537	Mapping file id25978 NCBI file	EvidenceIEA, TAS
GeneCHMP3	AuthorityHGNC:29865	Mapping file id51652 NCBI file	EvidenceIEA, TAS
GeneCHMP4A	AuthorityHGNC:20274	Mapping file id29082 NCBI file	EvidenceIEA, TAS
GeneCHMP4B	AuthorityHGNC:16171	Mapping file id128866 NCBI file	EvidenceIEA, TAS
GeneCHMP4C	AuthorityHGNC:30599	Mapping file id92421 NCBI file	EvidenceIEA, TAS
GeneCHMP5	AuthorityHGNC:26942	Mapping file id51510 NCBI file	EvidenceTAS
GeneCHMP6	AuthorityHGNC:25675	Mapping file id79643 NCBI file	EvidenceIEA, TAS
GeneCHMP7	AuthorityHGNC:28439	Mapping file id91782 NCBI file	EvidenceIEA, TAS
GeneCHST14	AuthorityHGNC:24464	Mapping file id113189 NCBI file	EvidenceTAS
GeneCHST3	AuthorityHGNC:1971	Mapping file id9469 NCBI file	EvidenceTAS
GeneCHST6	AuthorityHGNC:6938	Mapping file id4166 NCBI file	EvidenceTAS
GeneCHSY1	AuthorityHGNC:17198	Mapping file id22856 NCBI file	EvidenceTAS
GeneCHUK	AuthorityHGNC:1974	Mapping file id1147 NCBI file	EvidenceTAS
GeneCHURC1-FNTB	AuthorityHGNC:42960	Mapping file id100529261 NCBI file	EvidenceTAS
GeneCLCN6	AuthorityHGNC:2024	Mapping file id1185 NCBI file	EvidenceTAS
GeneCLDN1	AuthorityHGNC:2032	Mapping file id9076 NCBI file	EvidenceTAS
GeneCLEC4M	AuthorityHGNC:13523	Mapping file id10332 NCBI file	EvidenceTAS
GeneCLEC5A	AuthorityHGNC:2054	Mapping file id23601 NCBI file	EvidenceTAS
GeneCLINT1	AuthorityHGNC:23186	Mapping file id9685 NCBI file	EvidenceTAS
GeneCLIP1	AuthorityHGNC:10461	Mapping file id6249 NCBI file	EvidenceTAS
GeneCLP1	AuthorityHGNC:16999	Mapping file id10978 NCBI file	EvidenceTAS
GeneCLTA	AuthorityHGNC:2090	Mapping file id1211 NCBI file	EvidenceTAS
GeneCLTC	AuthorityHGNC:2092	Mapping file id1213 NCBI file	EvidenceTAS
GeneCLU	AuthorityHGNC:2095	Mapping file id1191 NCBI file	EvidenceTAS
GeneCNBP	AuthorityHGNC:13164	Mapping file id7555 NCBI file	EvidenceTAS
GeneCNKSR1	AuthorityHGNC:19700	Mapping file id10256 NCBI file	EvidenceTAS
GeneCNKSR2	AuthorityHGNC:19701	Mapping file id22866 NCBI file	EvidenceTAS
GeneCNTRL	AuthorityHGNC:1858	Mapping file id11064 NCBI file	EvidenceTAS
GeneCOG1	AuthorityHGNC:6545	Mapping file id9382 NCBI file	EvidenceTAS
GeneCOL1A1	AuthorityHGNC:2197	Mapping file id1277 NCBI file	EvidenceTAS
GeneCOL1A2	AuthorityHGNC:2198	Mapping file id1278 NCBI file	EvidenceTAS
GeneCOL4A1	AuthorityHGNC:2202	Mapping file id1282 NCBI file	EvidenceTAS
GeneCOL4A2	AuthorityHGNC:2203	Mapping file id1284 NCBI file	EvidenceTAS
GeneCOL4A3	AuthorityHGNC:2204	Mapping file id1285 NCBI file	EvidenceTAS
GeneCOL4A4	AuthorityHGNC:2206	Mapping file id1286 NCBI file	EvidenceTAS
GeneCOL4A5	AuthorityHGNC:2207	Mapping file id1287 NCBI file	EvidenceTAS
GeneCOL4A6	AuthorityHGNC:2208	Mapping file id1288 NCBI file	EvidenceTAS
GeneCOL5A1	AuthorityHGNC:2209	Mapping file id1289 NCBI file	EvidenceTAS
GeneCOL5A2	AuthorityHGNC:2210	Mapping file id1290 NCBI file	EvidenceTAS
GeneCOL5A3	AuthorityHGNC:14864	Mapping file id50509 NCBI file	EvidenceTAS
GeneCOMT	AuthorityHGNC:2228	Mapping file id1312 NCBI file	EvidenceTAS
GeneCORO1A	AuthorityHGNC:2252	Mapping file id11151 NCBI file	EvidenceTAS
GeneCP	AuthorityHGNC:2295	Mapping file id1356 NCBI file	EvidenceTAS
GeneCPS1	AuthorityHGNC:2323	Mapping file id1373 NCBI file	EvidenceTAS
GeneCPSF1	AuthorityHGNC:2324	Mapping file id29894 NCBI file	EvidenceTAS
GeneCPSF2	AuthorityHGNC:2325	Mapping file id53981 NCBI file	EvidenceTAS
GeneCPSF3	AuthorityHGNC:2326	Mapping file id51692 NCBI file	EvidenceTAS
GeneCPSF4	AuthorityHGNC:2327	Mapping file id10898 NCBI file	EvidenceTAS
GeneCPSF6	AuthorityHGNC:13871	Mapping file id11052 NCBI file	EvidenceTAS
GeneCPSF7	AuthorityHGNC:30098	Mapping file id79869 NCBI file	EvidenceTAS
GeneCRB3	AuthorityHGNC:20237	Mapping file id92359 NCBI file	EvidenceTAS
GeneCRBN	AuthorityHGNC:30185	Mapping file id51185 NCBI file	EvidenceTAS
GeneCREB1	AuthorityHGNC:2345	Mapping file id1385 NCBI file	EvidenceIEA, TAS
GeneCREBBP	AuthorityHGNC:2348	Mapping file id1387 NCBI file	EvidenceTAS
GeneCRK	AuthorityHGNC:2362	Mapping file id1398 NCBI file	EvidenceTAS
GeneCRNKL1	AuthorityHGNC:15762	Mapping file id51340 NCBI file	EvidenceTAS
GeneCSF2RA	AuthorityHGNC:2435	Mapping file id1438 NCBI file	EvidenceTAS
GeneCSF2RB	AuthorityHGNC:2436	Mapping file id1439 NCBI file	EvidenceTAS
GeneCSK	AuthorityHGNC:2444	Mapping file id1445 NCBI file	EvidenceTAS
GeneCSNK1A1	AuthorityHGNC:2451	Mapping file id1452 NCBI file	EvidenceTAS
GeneCSNK2A1	AuthorityHGNC:2457	Mapping file id1457 NCBI file	EvidenceTAS
GeneCSNK2A2	AuthorityHGNC:2459	Mapping file id1459 NCBI file	EvidenceTAS
GeneCSNK2B	AuthorityHGNC:2460	Mapping file id1460 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.