Pathway Human Homo sapiens
SLC transporter disorders
R-HSA-5619102 in Reactome release 97: under Disorders of transmembrane transporters, with 98 genes placed in it by the mapping files and 69 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.
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.
02The genes
Genes Reactome places in this human pathway
The mapping files place 98 genes in this human pathway; showing 1 to 98, in pages of 100, sorted by symbol for reading. The order carries no ranking.
| Gene | Authority id | Mapping file id | Evidence codes |
|---|---|---|---|
| GeneAAAS | AuthorityHGNC:13666 | Mapping file id8086 NCBI file | EvidenceTAS |
| GeneAVP | AuthorityHGNC:894 | Mapping file id551 NCBI file | EvidenceTAS |
| GeneAVPR1A | AuthorityHGNC:895 | Mapping file id552 NCBI file | EvidenceTAS |
| GeneAVPR1B | AuthorityHGNC:896 | Mapping file id553 NCBI file | EvidenceTAS |
| GeneAVPR2 | AuthorityHGNC:897 | Mapping file id554 NCBI file | EvidenceTAS |
| GeneBSG | AuthorityHGNC:1116 | Mapping file id682 NCBI file | EvidenceTAS |
| GeneCP | AuthorityHGNC:2295 | Mapping file id1356 NCBI file | EvidenceTAS |
| GeneGCK | AuthorityHGNC:4195 | Mapping file id2645 NCBI file | EvidenceTAS |
| GeneGCKR | AuthorityHGNC:4196 | Mapping file id2646 NCBI file | EvidenceTAS |
| GeneHEPH | AuthorityHGNC:4866 | Mapping file id9843 NCBI file | EvidenceTAS |
| GeneHK1 | AuthorityHGNC:4922 | Mapping file id3098 NCBI file | EvidenceTAS |
| GeneNDC1 | AuthorityHGNC:25525 | Mapping file id55706 NCBI file | EvidenceTAS |
| GeneNUP107 | AuthorityHGNC:29914 | Mapping file id57122 NCBI file | EvidenceTAS |
| GeneNUP133 | AuthorityHGNC:18016 | Mapping file id55746 NCBI file | EvidenceTAS |
| GeneNUP153 | AuthorityHGNC:8062 | Mapping file id9972 NCBI file | EvidenceTAS |
| GeneNUP155 | AuthorityHGNC:8063 | Mapping file id9631 NCBI file | EvidenceTAS |
| GeneNUP160 | AuthorityHGNC:18017 | Mapping file id23279 NCBI file | EvidenceTAS |
| GeneNUP188 | AuthorityHGNC:17859 | Mapping file id23511 NCBI file | EvidenceTAS |
| GeneNUP205 | AuthorityHGNC:18658 | Mapping file id23165 NCBI file | EvidenceTAS |
| GeneNUP210 | AuthorityHGNC:30052 | Mapping file id23225 NCBI file | EvidenceTAS |
| GeneNUP214 | AuthorityHGNC:8064 | Mapping file id8021 NCBI file | EvidenceTAS |
| GeneNUP35 | AuthorityHGNC:29797 | Mapping file id129401 NCBI file | EvidenceTAS |
| GeneNUP37 | AuthorityHGNC:29929 | Mapping file id79023 NCBI file | EvidenceTAS |
| GeneNUP42 | AuthorityHGNC:17010 | Mapping file id11097 NCBI file | EvidenceTAS |
| GeneNUP43 | AuthorityHGNC:21182 | Mapping file id348995 NCBI file | EvidenceTAS |
| GeneNUP50 | AuthorityHGNC:8065 | Mapping file id10762 NCBI file | EvidenceTAS |
| GeneNUP54 | AuthorityHGNC:17359 | Mapping file id53371 NCBI file | EvidenceTAS |
| GeneNUP58 | AuthorityHGNC:20261 | Mapping file id9818 NCBI file | EvidenceTAS |
| GeneNUP62 | AuthorityHGNC:8066 | Mapping file id23636 NCBI file | EvidenceTAS |
| GeneNUP85 | AuthorityHGNC:8734 | Mapping file id79902 NCBI file | EvidenceTAS |
| GeneNUP88 | AuthorityHGNC:8067 | Mapping file id4927 NCBI file | EvidenceTAS |
| GeneNUP93 | AuthorityHGNC:28958 | Mapping file id9688 NCBI file | EvidenceTAS |
| GeneNUP98 | AuthorityHGNC:8068 | Mapping file id4928 NCBI file | EvidenceTAS |
| GenePOM121 | AuthorityHGNC:19702 | Mapping file id9883 NCBI file | EvidenceTAS |
| GenePOM121C | AuthorityHGNC:34005 | Mapping file idENSG00000272391 Ensembl file | EvidenceTAS |
| GeneRAE1 | AuthorityHGNC:9828 | Mapping file id8480 NCBI file | EvidenceTAS |
| GeneRANBP2 | AuthorityHGNC:9848 | Mapping file id5903 NCBI file | EvidenceTAS |
| GeneRHAG | AuthorityHGNC:10006 | Mapping file id6005 NCBI file | EvidenceTAS |
| GeneSEC13 | AuthorityHGNC:10697 | Mapping file id6396 NCBI file | EvidenceTAS |
| GeneSEH1L | AuthorityHGNC:30379 | Mapping file id81929 NCBI file | EvidenceTAS |
| GeneSLC11A2 | AuthorityHGNC:10908 | Mapping file id4891 NCBI file | EvidenceTAS |
| GeneSLC12A1 | AuthorityHGNC:10910 | Mapping file id6557 NCBI file | EvidenceTAS |
| GeneSLC12A3 | AuthorityHGNC:10912 | Mapping file id6559 NCBI file | EvidenceTAS |
| GeneSLC12A6 | AuthorityHGNC:10914 | Mapping file id9990 NCBI file | EvidenceTAS |
| GeneSLC16A1 | AuthorityHGNC:10922 | Mapping file id6566 NCBI file | EvidenceTAS |
| GeneSLC17A5 | AuthorityHGNC:10933 | Mapping file id26503 NCBI file | EvidenceTAS |
| GeneSLC17A8 | AuthorityHGNC:20151 | Mapping file id246213 NCBI file | EvidenceTAS |
| GeneSLC1A1 | AuthorityHGNC:10939 | Mapping file id6505 NCBI file | EvidenceTAS |
| GeneSLC1A3 | AuthorityHGNC:10941 | Mapping file id6507 NCBI file | EvidenceTAS |
| GeneSLC20A2 | AuthorityHGNC:10947 | Mapping file id6575 NCBI file | EvidenceTAS |
| GeneSLC22A12 | AuthorityHGNC:17989 | Mapping file id116085 NCBI file | EvidenceTAS |
| GeneSLC22A5 | AuthorityHGNC:10969 | Mapping file id6584 NCBI file | EvidenceTAS |
| GeneSLC24A1 | AuthorityHGNC:10975 | Mapping file id9187 NCBI file | EvidenceTAS |
| GeneSLC24A4 | AuthorityHGNC:10978 | Mapping file id123041 NCBI file | EvidenceTAS |
| GeneSLC24A5 | AuthorityHGNC:20611 | Mapping file id283652 NCBI file | EvidenceTAS |
| GeneSLC26A2 | AuthorityHGNC:10994 | Mapping file id1836 NCBI file | EvidenceTAS |
| GeneSLC26A3 | AuthorityHGNC:3018 | Mapping file id1811 NCBI file | EvidenceTAS |
| GeneSLC26A4 | AuthorityHGNC:8818 | Mapping file id5172 NCBI file | EvidenceTAS |
| GeneSLC27A4 | AuthorityHGNC:10998 | Mapping file id10999 NCBI file | EvidenceTAS |
| GeneSLC29A3 | AuthorityHGNC:23096 | Mapping file id55315 NCBI file | EvidenceTAS |
| GeneSLC2A1 | AuthorityHGNC:11005 | Mapping file id6513 NCBI file | EvidenceTAS |
| GeneSLC2A10 | AuthorityHGNC:13444 | Mapping file id81031 NCBI file | EvidenceTAS |
| GeneSLC2A2 | AuthorityHGNC:11006 | Mapping file id6514 NCBI file | EvidenceTAS |
| GeneSLC2A9 | AuthorityHGNC:13446 | Mapping file id56606 NCBI file | EvidenceTAS |
| GeneSLC33A1 | AuthorityHGNC:95 | Mapping file id9197 NCBI file | EvidenceTAS |
| GeneSLC34A1 | AuthorityHGNC:11019 | Mapping file id6569 NCBI file | EvidenceTAS |
| GeneSLC34A2 | AuthorityHGNC:11020 | Mapping file id10568 NCBI file | EvidenceTAS |
| GeneSLC34A3 | AuthorityHGNC:20305 | Mapping file id142680 NCBI file | EvidenceTAS |
| GeneSLC35A1 | AuthorityHGNC:11021 | Mapping file id10559 NCBI file | EvidenceTAS |
| GeneSLC35A2 | AuthorityHGNC:11022 | Mapping file id7355 NCBI file | EvidenceTAS |
| GeneSLC35A3 | AuthorityHGNC:11023 | Mapping file id23443 NCBI file | EvidenceTAS |
| GeneSLC35C1 | AuthorityHGNC:20197 | Mapping file id55343 NCBI file | EvidenceTAS |
| GeneSLC36A2 | AuthorityHGNC:18762 | Mapping file id153201 NCBI file | EvidenceTAS |
| GeneSLC39A4 | AuthorityHGNC:17129 | Mapping file id55630 NCBI file | EvidenceTAS |
| GeneSLC3A1 | AuthorityHGNC:11025 | Mapping file id6519 NCBI file | EvidenceTAS |
| GeneSLC3A2 | AuthorityHGNC:11026 | Mapping file id6520 NCBI file | EvidenceTAS |
| GeneSLC40A1 | AuthorityHGNC:10909 | Mapping file id30061 NCBI file | EvidenceTAS |
| GeneSLC4A1 | AuthorityHGNC:11027 | Mapping file id6521 NCBI file | EvidenceTAS |
| GeneSLC4A4 | AuthorityHGNC:11030 | Mapping file id8671 NCBI file | EvidenceTAS |
| GeneSLC5A1 | AuthorityHGNC:11036 | Mapping file id6523 NCBI file | EvidenceTAS |
| GeneSLC5A2 | AuthorityHGNC:11037 | Mapping file id6524 NCBI file | EvidenceTAS |
| GeneSLC5A5 | AuthorityHGNC:11040 | Mapping file id6528 NCBI file | EvidenceTAS |
| GeneSLC5A7 | AuthorityHGNC:14025 | Mapping file id60482 NCBI file | EvidenceTAS |
| GeneSLC67A1 | AuthorityHGNC:10964 | Mapping file id5002 NCBI file | EvidenceTAS |
| GeneSLC6A14 | AuthorityHGNC:11047 | Mapping file id11254 NCBI file | EvidenceTAS |
| GeneSLC6A19 | AuthorityHGNC:27960 | Mapping file id340024 NCBI file | EvidenceTAS |
| GeneSLC6A2 | AuthorityHGNC:11048 | Mapping file id6530 NCBI file | EvidenceTAS |
| GeneSLC6A20 | AuthorityHGNC:30927 | Mapping file id54716 NCBI file | EvidenceTAS |
| GeneSLC6A3 | AuthorityHGNC:11049 | Mapping file id6531 NCBI file | EvidenceTAS |
| GeneSLC6A5 | AuthorityHGNC:11051 | Mapping file id9152 NCBI file | EvidenceTAS |
| GeneSLC7A7 | AuthorityHGNC:11065 | Mapping file id9056 NCBI file | EvidenceTAS |
| GeneSLC7A9 | AuthorityHGNC:11067 | Mapping file id11136 NCBI file | EvidenceTAS |
| GeneSLC9A6 | AuthorityHGNC:11079 | Mapping file id10479 NCBI file | EvidenceTAS |
| GeneSLC9A9 | AuthorityHGNC:20653 | Mapping file id285195 NCBI file | EvidenceTAS |
| GeneSLCO1B1 | AuthorityHGNC:10959 | Mapping file id10599 NCBI file | EvidenceTAS |
| GeneSLCO1B3 | AuthorityHGNC:10961 | Mapping file id28234 NCBI file | EvidenceTAS |
| GeneSLCO2A1 | AuthorityHGNC:10955 | Mapping file id6578 NCBI file | EvidenceTAS |
| GeneTPR | AuthorityHGNC:12017 | Mapping file id7175 NCBI file | EvidenceTAS |
Evidence codes on this page: 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 · 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
Children
- Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI)R-HSA-56608622 genes
- Defective amino acid transport by SLC7A9 causes cystinuria (CSNU)R-HSA-56608832 genes
- Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)R-HSA-56190993 genes
- Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)R-HSA-90360922 genes
- Defective CP causes aceruloplasminemia (ACERULOP)R-HSA-56190602 genes
- Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)R-HSA-56190731 genes
- Defective HK1 causes hexokinase deficiency (HK deficiency)R-HSA-56190561 genes
- Defective neurotransmitter clearance by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)R-HSA-56190811 genes
- Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)R-HSA-56190421 genes
- Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)R-HSA-56190481 genes
- Defective SLC12A1 causes Bartter syndrome 1 (BS1)R-HSA-56191041 genes
- Defective SLC12A3 causes Gitelman syndrome (GS)R-HSA-56190871 genes
- Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)R-HSA-56190391 genes
- Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)R-HSA-56190702 genes
- Defective SLC17A5 causes Salla disease (SD) and ISSDR-HSA-56190351 genes
- Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)R-HSA-56190761 genes
- Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)R-HSA-56190671 genes
- Defective SLC1A3 causes episodic ataxia 6 (EA6)R-HSA-56190621 genes
- Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)R-HSA-56191111 genes
- Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)R-HSA-56190711 genes
- Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)R-HSA-56190661 genes
- Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)R-HSA-56190531 genes
- Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)R-HSA-56190771 genes
- Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)R-HSA-56190551 genes
- Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)R-HSA-56190361 genes
- Defective SLC26A2 causes chondrodysplasiasR-HSA-35607921 genes
- Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)R-HSA-56190851 genes
- Defective SLC26A4 causes Pendred syndrome (PDS)R-HSA-56190461 genes
- Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)R-HSA-56191081 genes
- Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)R-HSA-56190631 genes
- Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)R-HSA-56190431 genes
- Defective SLC2A10 causes arterial tortuosity syndrome (ATS)R-HSA-56190681 genes
- Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)R-HSA-56190981 genes
- Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)R-HSA-56190471 genes
- Defective SLC33A1 causes spastic paraplegia 42 (SPG42)R-HSA-56190611 genes
- Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)R-HSA-56190401 genes
- Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)R-HSA-56190451 genes
- Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)R-HSA-56190971 genes
- Defective SLC35A1 in sialic acid metabolism causes congenital disorder of glycosylation 2F (CDG2F)R-HSA-56630201 genes
- Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)R-HSA-56190721 genes
- Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)R-HSA-56190831 genes
- Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)R-HSA-56190781 genes
- Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)R-HSA-56190411 genes
- Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)R-HSA-56190881 genes
- Defective SLC3A1 causes cystinuria (CSNU)R-HSA-56191132 genes
- Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)R-HSA-56557992 genes
- Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)R-HSA-56190492 genes
- Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)R-HSA-56190501 genes
- Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)R-HSA-56190541 genes
- Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)R-HSA-56563641 genes
- Defective SLC5A2 causes renal glucosuria (GLYS1)R-HSA-56582081 genes
- Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)R-HSA-56190961 genes
- Defective SLC5A7 in the neurotransmitter release cycle causes distal hereditary motor neuronopathy 7A (HMN7A)R-HSA-56191141 genes
- Defective SLC6A2 causes orthostatic intolerance (OI)R-HSA-56191091 genes
- Defective SLC6A5 causes hyperekplexia 3 (HKPX3)R-HSA-56190891 genes
- Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)R-HSA-56190921 genes
- Defective SLC9A9 causes autism 16 (AUTS16)R-HSA-56190521 genes
- Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)R-HSA-56191101 genes
- Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)R-HSA-56190581 genes
- Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)R-HSA-56190951 genes
- Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)R-HSA-561910732 genes
- Defective transport by SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)R-HSA-56190371 genes
- Defective transport by SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)R-HSA-56584711 genes
- Defective transport of amino acids by SLC6A19 causes Hartnup disorder (HND)R-HSA-56597351 genes
- Defective transport of neurotransmitters by SLC6A19 causes Hartnup disorder (HND)R-HSA-56190441 genes
- Defective transport of neurotransmitters by SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)R-HSA-56607241 genes
- Variant SLC6A14 may confer susceptibility towards obesityR-HSA-56190941 genes
- Variant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)R-HSA-56606861 genes
- Variant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)R-HSA-56191011 genes
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 · 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.