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 2026-10-04 ET · Reactome pathway browser"Disease". Reactome, release 97, https://reactome.org/PathwayBrowser/#/R-HSA-1643685 with StableID: R-HSA-1643685.19 (accessed 2026-10-04 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 401 to 500, in pages of 100, sorted by symbol for reading. The order carries no ranking.

Genes Reactome places in this human pathway, page 5 of 26
Gene	Authority id	Mapping file id	Evidence codes
GeneCSPG4	AuthorityHGNC:2466	Mapping file id1464 NCBI file	EvidenceTAS
GeneCSPG5	AuthorityHGNC:2467	Mapping file id10675 NCBI file	EvidenceTAS
GeneCSTF1	AuthorityHGNC:2483	Mapping file id1477 NCBI file	EvidenceTAS
GeneCSTF2	AuthorityHGNC:2484	Mapping file id1478 NCBI file	EvidenceTAS
GeneCSTF2T	AuthorityHGNC:17086	Mapping file id23283 NCBI file	EvidenceTAS
GeneCSTF3	AuthorityHGNC:2485	Mapping file id1479 NCBI file	EvidenceTAS
GeneCTBP1	AuthorityHGNC:2494	Mapping file id1487 NCBI file	EvidenceTAS
GeneCTBP2	AuthorityHGNC:2495	Mapping file id1488 NCBI file	EvidenceTAS
GeneCTDP1	AuthorityHGNC:2498	Mapping file id9150 NCBI file	EvidenceIEA, TAS
GeneCTNNB1	AuthorityHGNC:2514	Mapping file id1499 NCBI file	EvidenceTAS
GeneCTNNBL1	AuthorityHGNC:15879	Mapping file id56259 NCBI file	EvidenceTAS
GeneCTNND1	AuthorityHGNC:2515	Mapping file id1500 NCBI file	EvidenceTAS
GeneCTR9	AuthorityHGNC:16850	Mapping file id9646 NCBI file	EvidenceTAS
GeneCTSA	AuthorityHGNC:9251	Mapping file id5476 NCBI file	EvidenceTAS
GeneCTSG	AuthorityHGNC:2532	Mapping file id1511 NCBI file	EvidenceTAS
GeneCTSL	AuthorityHGNC:2537	Mapping file id1514 NCBI file	EvidenceTAS
GeneCUBN	AuthorityHGNC:2548	Mapping file id8029 NCBI file	EvidenceTAS
GeneCUL1	AuthorityHGNC:2551	Mapping file id8454 NCBI file	EvidenceTAS
GeneCUL3	AuthorityHGNC:2553	Mapping file id8452 NCBI file	EvidenceTAS
GeneCUL5	AuthorityHGNC:2556	Mapping file id8065 NCBI file	EvidenceTAS
GeneCUX1	AuthorityHGNC:2557	Mapping file id1523 NCBI file	EvidenceTAS
GeneCWC15	AuthorityHGNC:26939	Mapping file id51503 NCBI file	EvidenceTAS
GeneCWC22	AuthorityHGNC:29322	Mapping file id57703 NCBI file	EvidenceTAS
GeneCWC25	AuthorityHGNC:25989	Mapping file id54883 NCBI file	EvidenceTAS
GeneCWC27	AuthorityHGNC:10664	Mapping file id10283 NCBI file	EvidenceTAS
GeneCX3CR1	AuthorityHGNC:2558	Mapping file id1524 NCBI file	EvidenceTAS
GeneCXCR4	AuthorityHGNC:2561	Mapping file id7852 NCBI file	EvidenceTAS
GeneCYBA	AuthorityHGNC:2577	Mapping file id1535 NCBI file	EvidenceTAS
GeneCYFIP1	AuthorityHGNC:13759	Mapping file id23191 NCBI file	EvidenceIEA, TAS
GeneCYFIP2	AuthorityHGNC:13760	Mapping file id26999 NCBI file	EvidenceIEA, TAS
GeneCYP11A1	AuthorityHGNC:2590	Mapping file id1583 NCBI file	EvidenceTAS
GeneCYP11B1	AuthorityHGNC:2591	Mapping file id1584 NCBI file	EvidenceTAS
GeneCYP11B2	AuthorityHGNC:2592	Mapping file id1585 NCBI file	EvidenceTAS
GeneCYP17A1	AuthorityHGNC:2593	Mapping file id1586 NCBI file	EvidenceTAS
GeneCYP19A1	AuthorityHGNC:2594	Mapping file id1588 NCBI file	EvidenceTAS
GeneCYP1B1	AuthorityHGNC:2597	Mapping file id1545 NCBI file	EvidenceTAS
GeneCYP21A2	AuthorityHGNC:2600	Mapping file id1589 NCBI file	EvidenceTAS
GeneCYP24A1	AuthorityHGNC:2602	Mapping file id1591 NCBI file	EvidenceTAS
GeneCYP26B1	AuthorityHGNC:20581	Mapping file id56603 NCBI file	EvidenceTAS
GeneCYP26C1	AuthorityHGNC:20577	Mapping file id340665 NCBI file	EvidenceTAS
GeneCYP27A1	AuthorityHGNC:2605	Mapping file id1593 NCBI file	EvidenceTAS
GeneCYP27B1	AuthorityHGNC:2606	Mapping file id1594 NCBI file	EvidenceTAS
GeneCYP2R1	AuthorityHGNC:20580	Mapping file id120227 NCBI file	EvidenceTAS
GeneCYP2U1	AuthorityHGNC:20582	Mapping file id113612 NCBI file	EvidenceTAS
GeneCYP4F22	AuthorityHGNC:26820	Mapping file id126410 NCBI file	EvidenceTAS
GeneCYP7B1	AuthorityHGNC:2652	Mapping file id9420 NCBI file	EvidenceTAS
GeneCYSLTR1	AuthorityHGNC:17451	Mapping file id10800 NCBI file	EvidenceTAS
GeneCYSLTR2	AuthorityHGNC:18274	Mapping file id57105 NCBI file	EvidenceTAS
GeneDAD1	AuthorityHGNC:2664	Mapping file id1603 NCBI file	EvidenceTAS
GeneDAG1	AuthorityHGNC:2666	Mapping file id1605 NCBI file	EvidenceTAS
GeneDAXX	AuthorityHGNC:2681	Mapping file id1616 NCBI file	EvidenceTAS
GeneDBT	AuthorityHGNC:2698	Mapping file id1629 NCBI file	EvidenceTAS
GeneDCN	AuthorityHGNC:2705	Mapping file id1634 NCBI file	EvidenceTAS
GeneDCTN1	AuthorityHGNC:2711	Mapping file id1639 NCBI file	EvidenceTAS
GeneDCXR	AuthorityHGNC:18985	Mapping file id51181 NCBI file	EvidenceTAS
GeneDDOST	AuthorityHGNC:2728	Mapping file id1650 NCBI file	EvidenceTAS
GeneDDX20	AuthorityHGNC:2743	Mapping file id11218 NCBI file	EvidenceTAS
GeneDDX23	AuthorityHGNC:17347	Mapping file id9416 NCBI file	EvidenceTAS
GeneDDX3X	AuthorityHGNC:2745	Mapping file id1654 NCBI file	EvidenceTAS
GeneDDX42	AuthorityHGNC:18676	Mapping file id11325 NCBI file	EvidenceTAS
GeneDDX46	AuthorityHGNC:18681	Mapping file id9879 NCBI file	EvidenceTAS
GeneDDX5	AuthorityHGNC:2746	Mapping file id1655 NCBI file	EvidenceIEA, TAS
GeneDERL1	AuthorityHGNC:28454	Mapping file id79139 NCBI file	EvidenceTAS
GeneDERL2	AuthorityHGNC:17943	Mapping file id51009 NCBI file	EvidenceTAS
GeneDERL3	AuthorityHGNC:14236	Mapping file id91319 NCBI file	EvidenceTAS
GeneDHDDS	AuthorityHGNC:20603	Mapping file id79947 NCBI file	EvidenceTAS
GeneDHH	AuthorityHGNC:2865	Mapping file id50846 NCBI file	EvidenceTAS
GeneDHX15	AuthorityHGNC:2738	Mapping file id1665 NCBI file	EvidenceTAS
GeneDHX16	AuthorityHGNC:2739	Mapping file id8449 NCBI file	EvidenceTAS
GeneDHX38	AuthorityHGNC:17211	Mapping file id9785 NCBI file	EvidenceTAS
GeneDHX9	AuthorityHGNC:2750	Mapping file id1660 NCBI file	EvidenceTAS
GeneDKK1	AuthorityHGNC:2891	Mapping file id22943 NCBI file	EvidenceTAS
GeneDKK2	AuthorityHGNC:2892	Mapping file id27123 NCBI file	EvidenceTAS
GeneDKK4	AuthorityHGNC:2894	Mapping file id27121 NCBI file	EvidenceTAS
GeneDLD	AuthorityHGNC:2898	Mapping file id1738 NCBI file	EvidenceTAS
GeneDLL1	AuthorityHGNC:2908	Mapping file id28514 NCBI file	EvidenceTAS
GeneDLL4	AuthorityHGNC:2910	Mapping file id54567 NCBI file	EvidenceTAS
GeneDNA2	AuthorityHGNC:2939	Mapping file id1763 NCBI file	EvidenceTAS
GeneDNAJA2	AuthorityHGNC:14884	Mapping file id10294 NCBI file	EvidenceTAS
GeneDNAJB11	AuthorityHGNC:14889	Mapping file id51726 NCBI file	EvidenceTAS
GeneDNAJC10	AuthorityHGNC:24637	Mapping file id54431 NCBI file	EvidenceTAS
GeneDNAJC3	AuthorityHGNC:9439	Mapping file id5611 NCBI file	EvidenceTAS
GeneDNAJC8	AuthorityHGNC:15470	Mapping file id22826 NCBI file	EvidenceTAS
GeneDNMT1	AuthorityHGNC:2976	Mapping file id1786 NCBI file	EvidenceTAS
GeneDNMT3A	AuthorityHGNC:2978	Mapping file id1788 NCBI file	EvidenceTAS
GeneDNMT3B	AuthorityHGNC:2979	Mapping file id1789 NCBI file	EvidenceTAS
GeneDOCK1	AuthorityHGNC:2987	Mapping file id1793 NCBI file	EvidenceTAS
GeneDOCK2	AuthorityHGNC:2988	Mapping file id1794 NCBI file	EvidenceTAS
GeneDOLK	AuthorityHGNC:23406	Mapping file id22845 NCBI file	EvidenceTAS
GeneDPAGT1	AuthorityHGNC:2995	Mapping file id1798 NCBI file	EvidenceTAS
GeneDPEP1	AuthorityHGNC:3002	Mapping file id1800 NCBI file	EvidenceTAS
GeneDPEP2	AuthorityHGNC:23028	Mapping file id64174 NCBI file	EvidenceTAS
GeneDPM1	AuthorityHGNC:3005	Mapping file id8813 NCBI file	EvidenceTAS
GeneDPM2	AuthorityHGNC:3006	Mapping file id8818 NCBI file	EvidenceTAS
GeneDPM3	AuthorityHGNC:3007	Mapping file id54344 NCBI file	EvidenceTAS
GeneDPY30	AuthorityHGNC:24590	Mapping file id84661 NCBI file	EvidenceTAS
GeneDUSP10	AuthorityHGNC:3065	Mapping file id11221 NCBI file	EvidenceTAS
GeneDUSP16	AuthorityHGNC:17909	Mapping file id80824 NCBI file	EvidenceTAS
GeneDUSP6	AuthorityHGNC:3072	Mapping file id1848 NCBI file	EvidenceTAS
GeneDUSP7	AuthorityHGNC:3073	Mapping file id1849 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.