SLC9A8

Summary

SLC9A8 (solute carrier family 9 member A8, HGNC:20728) is a protein-coding gene on chromosome 20q13.13, encoding Sodium/hydrogen exchanger 8 (Q9Y2E8). Na(+)/H(+) antiporter.

Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).

Source: NCBI Gene 23315 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_015266

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20728
Approved symbol	SLC9A8
Name	solute carrier family 9 member A8
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0939, NHE8
Ensembl gene	ENSG00000197818
Ensembl biotype	protein_coding
OMIM	612730
Entrez	23315

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000361573, ENST00000417961, ENST00000489787, ENST00000490250, ENST00000851368, ENST00000851369, ENST00000851370, ENST00000851371, ENST00000851372

RefSeq mRNA: 2 — MANE Select: NM_015266 NM_001260491, NM_015266

CCDS: CCDS13421, CCDS58774

Canonical transcript exons

ENST00000361573 — 16 exons

Exon	Start	End
ENSE00000845585	49874705	49874821
ENSE00000845586	49883846	49884066
ENSE00000845587	49886752	49886898
ENSE00000907027	49877981	49878063
ENSE00000907028	49880924	49881035
ENSE00001039120	49850810	49850844
ENSE00001436627	49864739	49864844
ENSE00001436696	49862929	49863067
ENSE00001958508	49812828	49812948
ENSE00003478660	49887829	49892242
ENSE00003525422	49839541	49839599
ENSE00003545109	49849579	49849680
ENSE00003578639	49823061	49823141
ENSE00003644544	49815008	49815189
ENSE00003661594	49855438	49855581
ENSE00003680699	49845036	49845119

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 88.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3636 / max 848.2352, expressed in 1805 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185186	14.7979	1801
185185	2.1264	343
185188	1.0088	197
185191	0.8391	103
185184	0.6352	168
185183	0.5225	178
185189	0.2542	69
185190	0.1173	43
185187	0.0623	27

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	88.45	gold quality
granulocyte	CL:0000094	85.85	gold quality
gastrocnemius	UBERON:0001388	84.58	gold quality
nasal cavity epithelium	UBERON:0005384	84.54	gold quality
muscle of leg	UBERON:0001383	83.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.70	gold quality
spleen	UBERON:0002106	83.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.86	gold quality
right lobe of liver	UBERON:0001114	82.85	gold quality
mucosa of stomach	UBERON:0001199	82.72	gold quality
epithelium of nasopharynx	UBERON:0001951	82.65	silver quality
bone marrow cell	CL:0002092	82.41	gold quality
apex of heart	UBERON:0002098	82.39	gold quality
right adrenal gland cortex	UBERON:0035827	82.39	gold quality
right adrenal gland	UBERON:0001233	82.26	gold quality
left adrenal gland	UBERON:0001234	82.22	gold quality
esophagus mucosa	UBERON:0002469	82.13	gold quality
left adrenal gland cortex	UBERON:0035825	82.02	gold quality
adrenal cortex	UBERON:0001235	81.42	gold quality
right lobe of thyroid gland	UBERON:0001119	81.11	gold quality
right uterine tube	UBERON:0001302	81.02	gold quality
body of stomach	UBERON:0001161	81.01	gold quality
adrenal gland	UBERON:0002369	80.71	gold quality
bone marrow	UBERON:0002371	80.65	gold quality
nasal cavity mucosa	UBERON:0001826	80.55	gold quality
left lobe of thyroid gland	UBERON:0001120	80.38	gold quality
muscle organ	UBERON:0001630	80.36	gold quality
lower esophagus mucosa	UBERON:0035834	80.17	gold quality
esophagus	UBERON:0001043	80.11	gold quality
thyroid gland	UBERON:0002046	79.96	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PAX5, SP3

miRNA regulators (miRDB)

154 targeting SLC9A8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-185-3P	99.95	67.01	1743

Literature-anchored findings (GeneRIF, showing 11)

• No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA. (PMID:17881426)
• NHE8 is expressed along the gastrointestinal tract and NHE8 is a functional Na(+)/H(+) exchanger with kinetic characteristics that differ from other apically expressed NHE isoforms. (PMID:18209477)
• Tumor necrosis factor-alpha downregulates intestinal NHE8 expression by reducing basal promoter activity. (PMID:19109523)
• EGF inhibits intestinal NHE8 gene expression by reducing its basal transcription. (PMID:20375273)
• These data point to a role for the ion exchange activity of NHE8 being required to maintain endosome morphology. (PMID:20719963)
• This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane. (PMID:21171650)
• Exonic mutations in NHE8 cannot account for congenital sodium diarrhea. (PMID:21666503)
• NHE8 is expressed in goblet cells, and the inflammatory cytokine TNF-alpha downregulates NHE8 expression by a transcriptional mechanism. (PMID:26564720)
• work has uncovered a crucial role of NHE8 in acrosome biogenesis and suggests that some forms of human globozoospermia might be caused by a loss of function of this Na(+)/H(+) exchanger. (PMID:28476888)
• Functional characterization of the sodium/hydrogen exchanger 8 and its role in proliferation of colonic epithelial cells. (PMID:34288721)
• Downregulation of SLC9A8 Promotes Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer Cells via the IL6-JAK1/STAT3 Signaling Pathway. (PMID:36583805)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc9a8	ENSDARG00000020699
mus_musculus	Slc9a8	ENSMUSG00000039463
rattus_norvegicus	Slc9a8	ENSRNOG00000008354
drosophila_melanogaster	Nhe1	FBGN0026787
caenorhabditis_elegans	nhx-8	WBGENE00003735

Paralogs (10): SLC9A7 (ENSG00000065923), SLC9A3 (ENSG00000066230), SLC9A1 (ENSG00000090020), SLC9A2 (ENSG00000115616), SLC9A5 (ENSG00000135740), SLC9C2 (ENSG00000162753), SLC9C1 (ENSG00000172139), SLC9A4 (ENSG00000180251), SLC9A9 (ENSG00000181804), SLC9A6 (ENSG00000198689)

Protein

Protein identifiers

Sodium/hydrogen exchanger 8 — Q9Y2E8 (reviewed: Q9Y2E8)

Alternative names: Na(+)/H(+) exchanger 8, Solute carrier family 9 member 8

All UniProt accessions (1): Q9Y2E8

UniProt curated annotations — full annotation on UniProt →

Function. Na(+)/H(+) antiporter. Mediates the electoneutral exchange of intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry. Acts as an Na(+)/H(+) exchanger in the trans-Golgi. Contributes to the regulation of pH regulation of Golgi apparatus, and consequently, in protein trafficking and endosomal morphology. In germ cells, plays a crucial role in acrosome biogenesis and sperm development, probably by playing a role in the fusion of the Golgi-derived vesicles that form the acrosomal cap. Can also be active at the cell surface of specialized cells. In the small intestine, at the cell membrane, plays a major physiological role in transepithelial absorption of Na(+) and regulates intracellular pH homeostasis of intestinal epithelial cells. Acts as an important regulator of mucosal integrity in the intestine and in the stomach, could mediate the pH fluctuation necessary for mucin exocytosis or assist membrane trafficking of other proteins. Plays a role in photoreceptor survival and in the maintenance of intracellular pH homeostasis in retinal pigment epithelium (RPE cells).

Subcellular location. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane. Endosome. Multivesicular body membrane. Apical cell membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Tissue specificity. Ubiquitous. Strongly expressed in skeletal muscle and kidney. Detected throughout the entire gastrointestinal tract, with high expression detected in stomach, duodenum and ascending colon.

Activity regulation. HOE642 inhibits SLC9A8 activity.

Similarity. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2E8-1	1	yes
Q9Y2E8-2	2

RefSeq proteins (2): NP_001247420, NP_056081* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004709	NaH_exchanger	Family
IPR006153	Cation/H_exchanger_TM	Domain
IPR018422	Cation/H_exchanger_CPA1	Family

Pfam: PF00999

Catalyzed reactions (Rhea), 1 shown:

• Na(+)(in) + H(+)(out) = Na(+)(out) + H(+)(in) (RHEA:29419)

UniProt features (18 total): transmembrane region 11, modified residue 3, chain 1, splice variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2E8-F1	76.02	0.30

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 510, 571, 573

Mutagenesis-validated functional residues (1):

Position	Phenotype
225	induces endosomal clustering.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-425986	Sodium/Proton exchangers
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 175 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOCC_SECRETORY_GRANULE, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MALE_GAMETE_GENERATION, HEIDENBLAD_AMPLICON_8Q24_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, BACH2_01

GO Biological Process (13): acrosome assembly (GO:0001675), monoatomic ion transport (GO:0006811), sodium ion transmembrane transport (GO:0035725), regulation of intracellular pH (GO:0051453), potassium ion transmembrane transport (GO:0071805), proton transmembrane transport (GO:1902600), obsolete regulation of Golgi lumen acidification (GO:1905526), monoatomic cation transport (GO:0006812), sodium ion transport (GO:0006814), regulation of pH (GO:0006885), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), transmembrane transport (GO:0055085)

GO Molecular Function (4): sodium:proton antiporter activity (GO:0015385), potassium:proton antiporter activity (GO:0015386), protein binding (GO:0005515), antiporter activity (GO:0015297)

GO Cellular Component (10): Golgi membrane (GO:0000139), acrosomal vesicle (GO:0001669), apical plasma membrane (GO:0016324), multivesicular body membrane (GO:0032585), trans-Golgi network membrane (GO:0032588), endosome (GO:0005768), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metal ion SLC transporters	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monoatomic cation transmembrane transport	3
developmental process involved in reproduction	2
transport	2
metal cation:proton antiporter activity	2
endomembrane system	2
cytoplasm	2
spermatid development	1
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
sodium ion transport	1
regulation of pH	1
intracellular monoatomic cation homeostasis	1
regulation of biological quality	1
potassium ion transport	1
monoatomic ion transport	1
metal ion transport	1
monoatomic cation homeostasis	1
biological regulation	1
male gamete generation	1
cellular developmental process	1
cellular process	1
sodium ion transmembrane transporter activity	1
solute:potassium antiporter activity	1
binding	1
secondary active transmembrane transporter activity	1
Golgi apparatus	1
bounding membrane of organelle	1
secretory granule	1
apical part of cell	1
plasma membrane region	1
multivesicular body	1
late endosome membrane	1
trans-Golgi network	1
organelle membrane	1
cytoplasmic vesicle	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC9A8	SLC9B2	Q86UD5	800
SLC9A8	RACK1	P25388	739
SLC9A8	SLC26A6	Q9BXS9	607
SLC9A8	SLC9B1	Q4ZJI4	597
SLC9A8	SLC26A3	P40879	564
SLC9A8	NHERF2	Q15599	558
SLC9A8	NHERF1	O14745	545
SLC9A8	SLC9C1	Q4G0N8	530
SLC9A8	DIPK2A	Q8NDZ4	497
SLC9A8	TMEM254	Q8TBM7	490
SLC9A8	SLC4A4	Q9Y6R1	487
SLC9A8	DOCK3	Q8IZD9	480
SLC9A8	SLC4A7	Q9Y6M7	448
SLC9A8	PRKCE	Q02156	438
SLC9A8	NPAS4	Q8IUM7	426

IntAct

11 interactions, top by confidence:

A	B	Type	Score
WNT3	WNT3A	psi-mi:“MI:0914”(association)	0.640
MEOX2	SLC9A8	psi-mi:“MI:0915”(physical association)	0.560
SLC9A8	ZNF432	psi-mi:“MI:0914”(association)	0.530
ALB	CNOT1	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
GALNT8	CANX	psi-mi:“MI:0914”(association)	0.350
SPPL2B	POC1B-GALNT4	psi-mi:“MI:0914”(association)	0.350
TMED10	TMED7-TICAM2	psi-mi:“MI:0914”(association)	0.350
SLC9A8	AP1G1	psi-mi:“MI:0914”(association)	0.350
SLC9A8	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (72): SLC9A8 (Synthetic Growth Defect), SLC9A8 (Affinity Capture-RNA), SLC9A8 (Synthetic Lethality), SLC9A8 (Two-hybrid), SLC9A8 (Proximity Label-MS), SLC9A8 (Affinity Capture-MS), SLC9A8 (Affinity Capture-RNA), SPPL3 (Affinity Capture-MS), SLC9A8 (Affinity Capture-MS), SERINC1 (Affinity Capture-MS), EPHA7 (Affinity Capture-MS), ZNF182 (Affinity Capture-MS), ZNF397 (Affinity Capture-MS), SLC9A8 (Affinity Capture-MS), ZNF300 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8F5J9, A0JN27, F1LTR1, F1NBL0, O15294, P35438, P35439, P56558, P61201, P61202, P61203, P61599, P61600, P63138, P79101, P81436, Q03555, Q05586, Q13888, Q15303, Q27HV0, Q2PFM2, Q2TBV5, Q4L208, Q58ED9, Q5R1P0, Q5SP67, Q5ZJ75, Q61527, Q62956, Q6IQT4, Q6IR75, Q6P1K8, Q6P632, Q7ZXR3, Q8BUV3, Q8C6G8, Q8CGY8, Q8R4D1, Q91854

Diamond homologs: A1L3P4, B2RXE2, D3ZJ86, D4A7H1, F7B113, G3X939, M5A7P9, O13726, P19634, P23791, P26431, P26432, P26433, P26434, P48761, P48762, P48763, P48764, Q01345, Q04121, Q14940, Q28362, Q3ZAS0, Q4L208, Q4R8V4, Q552S0, Q56XP4, Q58916, Q5ZJ75, Q61165, Q68KI4, Q6AI14, Q84WG1, Q8BLV3, Q8BUE1, Q8BZ00, Q8IVB4, Q8R4D1, Q8RWU6, Q8S396

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SLC9A8	“down-regulates quantity”	hydron	relocalization
SLC9A8	“up-regulates quantity”	sodium(1+)	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

88 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3442 predictions. Top by Δscore:

Variant	Effect	Δscore
20:49812944:GAGGA:G	donor_gain	1.0000
20:49812946:GGA:G	donor_gain	1.0000
20:49812947:GA:G	donor_gain	1.0000
20:49812947:GAG:G	donor_gain	1.0000
20:49812949:G:GG	donor_gain	1.0000
20:49815005:CA:C	acceptor_loss	1.0000
20:49815006:A:AG	acceptor_gain	1.0000
20:49815007:G:A	acceptor_loss	1.0000
20:49815007:G:GG	acceptor_gain	1.0000
20:49815007:GGA:G	acceptor_gain	1.0000
20:49823059:A:AG	acceptor_gain	1.0000
20:49823060:G:GG	acceptor_gain	1.0000
20:49823060:GCT:G	acceptor_gain	1.0000
20:49847579:G:GT	donor_gain	1.0000
20:49855435:CA:C	acceptor_loss	1.0000
20:49855436:A:AG	acceptor_gain	1.0000
20:49855437:G:A	acceptor_loss	1.0000
20:49855437:G:GA	acceptor_gain	1.0000
20:49855437:GT:G	acceptor_gain	1.0000
20:49855437:GTT:G	acceptor_gain	1.0000
20:49855437:GTTT:G	acceptor_gain	1.0000
20:49855437:GTTTT:G	acceptor_gain	1.0000
20:49855577:ACCAA:A	donor_gain	1.0000
20:49855578:CCAA:C	donor_gain	1.0000
20:49855579:CAA:C	donor_gain	1.0000
20:49855580:AA:A	donor_gain	1.0000
20:49855581:AG:A	donor_loss	1.0000
20:49855582:G:GG	donor_gain	1.0000
20:49855583:T:A	donor_loss	1.0000
20:49877980:GAAAC:G	acceptor_gain	1.0000

AlphaMissense

3846 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:49823141:G:C	G97R	1.000
20:49845079:T:A	L131H	1.000
20:49845103:G:A	G139E	1.000
20:49849619:C:A	A158D	1.000
20:49849627:G:A	G161R	1.000
20:49849627:G:C	G161R	1.000
20:49849627:G:T	G161W	1.000
20:49849628:G:A	G161E	1.000
20:49855449:G:A	G194D	1.000
20:49855470:A:G	D201G	1.000
20:49855479:C:A	A204D	1.000
20:49855530:T:C	L221P	1.000
20:49855533:T:A	V222D	1.000
20:49855538:G:A	G224R	1.000
20:49855538:G:C	G224R	1.000
20:49855539:G:A	G224E	1.000
20:49855539:G:T	G224V	1.000
20:49855542:A:T	E225V	1.000
20:49855544:A:C	S226R	1.000
20:49855546:T:A	S226R	1.000
20:49855546:T:G	S226R	1.000
20:49855551:T:C	L228P	1.000
20:49855555:C:A	N229K	1.000
20:49855555:C:G	N229K	1.000
20:49855556:G:C	D230H	1.000
20:49855557:A:C	D230A	1.000
20:49855557:A:G	D230G	1.000
20:49855557:A:T	D230V	1.000
20:49855558:T:A	D230E	1.000
20:49855558:T:G	D230E	1.000

dbSNP variants (sampled 300 via entrez): RS1000026014 (20:49836416 C>T), RS1000107150 (20:49834737 G>A), RS1000109220 (20:49813216 A>G), RS1000120684 (20:49823947 C>T), RS1000133487 (20:49857613 G>A), RS1000135013 (20:49870226 C>T), RS1000147384 (20:49851676 T>C), RS1000296040 (20:49857309 A>G), RS1000306020 (20:49877289 G>C,T), RS1000333067 (20:49858095 T>C), RS1000349180 (20:49816920 G>A), RS1000376072 (20:49822151 G>A), RS1000437259 (20:49827493 A>C,G), RS1000486301 (20:49816673 C>T), RS1000546911 (20:49888253 C>A,G,T)

Disease associations

OMIM: gene MIM:612730 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000834_7	Psoriasis	2.000000e-07
GCST003876_14	Gut microbiota (beta diversity)	5.000000e-08
GCST005194_202	Coronary artery disease	1.000000e-06
GCST005531_19	Multiple sclerosis	4.000000e-08
GCST005537_56	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	4.000000e-09
GCST008991_1	Early cardiac repolarization	5.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0004885	early cardiac repolarization measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs645544	SLC9A8		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC9 family of sodium/hydrogen exchangers

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	increases expression, decreases expression, increases abundance	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ochratoxin A	increases acetylation	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
3-iodothyronamine	affects uptake	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	increases abundance, affects expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Methotrexate	decreases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	increases expression	1
Rifampin	increases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4QY	HCT116-SLC9A8-KO-c12	Cancer cell line	Male
CVCL_D4QZ	HCT116-SLC9A8-KO-c2	Cancer cell line	Male
CVCL_TP30	HAP1 SLC9A8 (-) 1	Cancer cell line	Male
CVCL_XT41	HAP1 SLC9A8 (-) 2	Cancer cell line	Male
CVCL_XT42	HAP1 SLC9A8 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.