SLC12A9

Summary

SLC12A9 (solute carrier family 12 member 9, HGNC:17435) is a protein-coding gene on chromosome 7q22.1, encoding Solute carrier family 12 member 9 (Q9BXP2). May be an inhibitor of SLC12A1.

Predicted to enable potassium:chloride symporter activity. Predicted to be involved in several processes, including chloride ion homeostasis; chloride transmembrane transport; and potassium ion homeostasis. Located in extracellular exosome.

Source: NCBI Gene 56996 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 8
• Clinical variants (ClinVar): 178 total
• MANE Select transcript: NM_020246

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17435
Approved symbol	SLC12A9
Name	solute carrier family 12 member 9
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	CIP1
Ensembl gene	ENSG00000146828
Ensembl biotype	protein_coding
OMIM	616861
Entrez	56996

Gene structure

Transcript identifiers

Ensembl transcripts: 53 — 44 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000354161, ENST00000415287, ENST00000416675, ENST00000418037, ENST00000434158, ENST00000448342, ENST00000461016, ENST00000462106, ENST00000467972, ENST00000475623, ENST00000475687, ENST00000482184, ENST00000487651, ENST00000497958, ENST00000540482, ENST00000856609, ENST00000856610, ENST00000856611, ENST00000856612, ENST00000856613, ENST00000856614, ENST00000856615, ENST00000856616, ENST00000856617, ENST00000856618, ENST00000856619, ENST00000856620, ENST00000856621, ENST00000856622, ENST00000856623, ENST00000856624, ENST00000856625, ENST00000856626, ENST00000856627, ENST00000856628, ENST00000856629, ENST00000856630, ENST00000938684, ENST00000938685, ENST00000938686, ENST00000938687, ENST00000938688, ENST00000938689, ENST00000938690, ENST00000938691, ENST00000938692, ENST00000938693, ENST00000938694, ENST00000971214, ENST00000971215, ENST00000971216, ENST00000971217, ENST00000971218

RefSeq mRNA: 5 — MANE Select: NM_020246 NM_001267812, NM_001267814, NM_001363493, NM_001363494, NM_020246

CCDS: CCDS5707, CCDS59068, CCDS59069

Canonical transcript exons

ENST00000354161 — 14 exons

Exon	Start	End
ENSE00000977601	100855706	100855837
ENSE00001876351	100865719	100867010
ENSE00001959015	100852713	100852835
ENSE00003499971	100861737	100861911
ENSE00003505224	100861138	100861262
ENSE00003518287	100862681	100862827
ENSE00003572593	100856868	100857176
ENSE00003575980	100860150	100860232
ENSE00003607051	100854620	100854754
ENSE00003607261	100861392	100861584
ENSE00003621837	100859885	100860042
ENSE00003639878	100859050	100859161
ENSE00003683294	100854156	100854378
ENSE00003690741	100858835	100858942

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 96.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0599 / max 230.2876, expressed in 1800 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80056	16.9058	1800
80058	0.0872	36
80059	0.0473	17
80057	0.0196	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.23	gold quality
monocyte	CL:0000576	94.71	gold quality
mononuclear cell	CL:0000842	94.26	gold quality
leukocyte	CL:0000738	94.02	gold quality
blood	UBERON:0000178	93.92	gold quality
spleen	UBERON:0002106	92.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.62	gold quality
mucosa of transverse colon	UBERON:0004991	89.21	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.17	gold quality
body of uterus	UBERON:0009853	88.96	gold quality
lymph node	UBERON:0000029	88.77	gold quality
spinal cord	UBERON:0002240	88.76	gold quality
cerebellar hemisphere	UBERON:0002245	88.58	gold quality
right ovary	UBERON:0002118	88.52	gold quality
cerebellar cortex	UBERON:0002129	88.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.69	gold quality
left ovary	UBERON:0002119	87.62	gold quality
transverse colon	UBERON:0001157	87.49	gold quality
ectocervix	UBERON:0012249	87.45	gold quality
metanephros cortex	UBERON:0010533	87.43	gold quality
upper lobe of left lung	UBERON:0008952	87.41	gold quality
cerebellum	UBERON:0002037	87.31	gold quality
right coronary artery	UBERON:0001625	87.24	gold quality
left uterine tube	UBERON:0001303	87.15	gold quality
lower esophagus	UBERON:0013473	87.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.10	gold quality
gall bladder	UBERON:0002110	86.79	gold quality
vermiform appendix	UBERON:0001154	86.70	gold quality
endocervix	UBERON:0000458	86.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting SLC12A9, 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-5193	100.00	67.26	1744
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6810-3P	97.96	64.57	1023

Literature-anchored findings (GeneRIF, showing 4)

• Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter’s, Gitleman’s, and Andermann’s syndromes). (PMID:23325410)
• Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma. (PMID:36925204)
• Clinical value of SLC12A9 for diagnosis and prognosis in colorectal cancer. (PMID:38157260)
• Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder. (PMID:38334070)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc12a9	ENSDARG00000060366
mus_musculus	Slc12a9	ENSMUSG00000037344
rattus_norvegicus	Slc12a9	ENSRNOG00000048487
drosophila_melanogaster	CG10413	FBGN0032689
caenorhabditis_elegans		WBGENE00020207

Paralogs (8): SLC12A2 (ENSG00000064651), SLC12A3 (ENSG00000070915), SLC12A1 (ENSG00000074803), SLC12A7 (ENSG00000113504), SLC12A4 (ENSG00000124067), SLC12A5 (ENSG00000124140), SLC12A6 (ENSG00000140199), SLC12A8 (ENSG00000221955)

Protein

Protein identifiers

Solute carrier family 12 member 9 — Q9BXP2 (reviewed: Q9BXP2)

Alternative names: Cation-chloride cotransporter 6, Cation-chloride cotransporter-interacting protein 1, Potassium-chloride transporter 9, WO3.3

All UniProt accessions (5): Q9BXP2, C9J0I5, C9JBD8, C9JMQ7, F8WEK3

UniProt curated annotations — full annotation on UniProt →

Function. May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function. May play a role in lysosomal ion flux and osmoregulation.

Subunit / interactions. Interacts with SLC12A1.

Subcellular location. Cell membrane. Lysosome membrane.

Tissue specificity. Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart.

Disease relevance. Defects in SLC12A9 may play a role in a neurodevelopmental disorder characterized by hypotonia, failure to thrive, moderate to severe developmental delay and intellectual disability, pale hair, eyebrows and eyelashes, and variable presence of seizures, congenital heart defects, skeletal, and brain anomalies.

Similarity. Belongs to the SLC12A transporter family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BXP2-1	1	yes
Q9BXP2-2	2
Q9BXP2-3	3
Q9BXP2-4	4

RefSeq proteins (5): NP_001254741, NP_001254743, NP_001350422, NP_001350423, NP_064631* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004841	AA-permease/SLC12A_dom	Domain
IPR004842	SLC12A_fam	Family
IPR018491	SLC12_C	Domain

Pfam: PF00324, PF03522

UniProt features (45 total): topological domain 13, transmembrane region 12, sequence conflict 6, splice variant 5, region of interest 2, glycosylation site 2, sequence variant 2, chain 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXP2-F1	82.25	0.42

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 (1): 6

Glycosylation sites (2): 228, 243

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): cell volume homeostasis (GO:0006884), chloride ion homeostasis (GO:0055064), potassium ion homeostasis (GO:0055075), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805)

GO Molecular Function (3): chloride:monoatomic cation symporter activity (GO:0015377), potassium:chloride symporter activity (GO:0015379), transmembrane transporter activity (GO:0022857)

GO Cellular Component (5): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), lysosome (GO:0005764)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
inorganic ion homeostasis	2
transport	2
regulation of cell size	1
cellular homeostasis	1
monoatomic anion homeostasis	1
monoatomic cation homeostasis	1
chloride transport	1
monoatomic anion transmembrane transport	1
cellular process	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
chloride transmembrane transporter activity	1
monoatomic anion:monoatomic cation symporter activity	1
potassium ion transmembrane transporter activity	1
chloride:monoatomic cation symporter activity	1
transporter activity	1
transmembrane transport	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
cellular anatomical structure	1
extracellular vesicle	1
lytic vacuole	1

Protein interactions and networks

STRING

1088 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC12A9	SLC12A2	P55011	622
SLC12A9	CLSTN2	Q9H4D0	477
SLC12A9	PASK	Q96RG2	468
SLC12A9	MAP3K7CL	P57077	467
SLC12A9	C10orf62	Q5T681	450
SLC12A9	SLC35F1	Q5T1Q4	429
SLC12A9	UFSP1	Q6NVU6	425
SLC12A9	TRIP6	Q15654	424
SLC12A9	RIMOC1	A6NDU8	413
SLC12A9	SLC45A2	Q9UMX9	396
SLC12A9	SLC35E1	Q96K37	395
SLC12A9	CFAP141	Q5VU69	394
SLC12A9	MNT	Q99583	389
SLC12A9	SLC2A6	Q9UGQ3	380
SLC12A9	MAN2A2	P49641	378

IntAct

76 interactions, top by confidence:

A	B	Type	Score
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
SEMA7A	SGPL1	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
KCNA10	GAPDHS	psi-mi:“MI:0914”(association)	0.530
SLC30A2	RER1	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
P2RY1	SLC19A2	psi-mi:“MI:0914”(association)	0.530
PTGIR	TMEM63A	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
KCNA2	FADS1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
ZNF526	VAMP4	psi-mi:“MI:0914”(association)	0.350
Ndel1	VEZF1	psi-mi:“MI:0914”(association)	0.350
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (233): SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A1A4Q9, A1L134, A2BDX3, A5YM72, A6H707, B0BLZ5, B0JZP3, G3MZR2, O43292, O60831, O89109, P70295, Q11130, Q2TBP5, Q2V8X7, Q32NY4, Q3UPE3, Q4R4E4, Q4R4I9, Q5XIE1, Q5ZIW1, Q66HR0, Q6IQX7, Q6NRK8, Q6P2H8, Q7L1V2, Q80ZW2, Q86VU5, Q8IZ52, Q8N3Y3, Q8NE01, Q8NF37, Q8NI29, Q8TAC2, Q8TCD5, Q8TD43, Q8WUY1, Q92839, Q96DE0

Diamond homologs: A0A0G2KTI4, A0AV02, A2BFP5, P38329, P55011, P55012, P55013, P55014, P55015, P55016, P55017, P55018, P55019, P59158, Q13621, Q25479, Q6A4L1, Q8CJI3, Q8VI23, Q9BXP2, O60146, Q2UVJ5, Q657W3, Q66HR0, Q99MR3, Q0VGW6, Q924N4, Q9UHW9, Q28677, Q63632, Q9JIS8, Q9UP95, Q5RK27, Q63633, Q6Z0E2, Q7YRU6, Q91V14, Q9H2X9, Q9WVL3, Q9Y666

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 97 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
G protein-coupled receptor signaling pathway	11	5.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	138
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2155 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100826974:CTCA:C	donor_loss	1.0000
7:100826975:TCAC:T	donor_loss	1.0000
7:100826976:CACC:C	donor_loss	1.0000
7:100826977:A:AC	donor_gain	1.0000
7:100826977:ACC:A	donor_loss	1.0000
7:100826978:C:CC	donor_gain	1.0000
7:100826978:C:CG	donor_loss	1.0000
7:100858818:T:A	acceptor_gain	1.0000
7:100858819:G:A	acceptor_gain	1.0000
7:100858938:GTCAG:G	donor_gain	1.0000
7:100858939:TCAGG:T	donor_loss	1.0000
7:100858940:CAGG:C	donor_loss	1.0000
7:100858942:GGTGA:G	donor_loss	1.0000
7:100858943:GTGAG:G	donor_loss	1.0000
7:100858944:T:A	donor_loss	1.0000
7:100859045:TCCA:T	acceptor_loss	1.0000
7:100859046:CCA:C	acceptor_loss	1.0000
7:100859048:A:AG	acceptor_gain	1.0000
7:100859048:AG:A	acceptor_gain	1.0000
7:100859048:AGG:A	acceptor_gain	1.0000
7:100859048:AGGG:A	acceptor_gain	1.0000
7:100859049:G:C	acceptor_loss	1.0000
7:100859049:G:GT	acceptor_gain	1.0000
7:100859049:GG:G	acceptor_gain	1.0000
7:100859049:GGG:G	acceptor_gain	1.0000
7:100859049:GGGG:G	acceptor_gain	1.0000
7:100859049:GGGGA:G	acceptor_gain	1.0000
7:100859120:C:G	donor_gain	1.0000
7:100859881:CTAG:C	acceptor_loss	1.0000
7:100859882:TAG:T	acceptor_loss	1.0000

AlphaMissense

5758 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:100861258:T:C	F447L	1.000
7:100861260:C:A	F447L	1.000
7:100861260:C:G	F447L	1.000
7:100861750:T:C	L517P	1.000
7:100862794:G:T	G609W	1.000
7:100862807:T:C	L613P	1.000
7:100854722:C:T	T95I	0.999
7:100854726:T:A	N96K	0.999
7:100854726:T:G	N96K	0.999
7:100855718:G:C	R110P	0.999
7:100855727:G:A	G113E	0.999
7:100855751:G:A	G121E	0.999
7:100859056:T:C	L291P	0.999
7:100861257:C:A	N446K	0.999
7:100861257:C:G	N446K	0.999
7:100861259:T:C	F447S	0.999
7:100861259:T:G	F447C	0.999
7:100861785:T:C	F529L	0.999
7:100861787:C:A	F529L	0.999
7:100861787:C:G	F529L	0.999
7:100861788:T:A	W530R	0.999
7:100861788:T:C	W530R	0.999
7:100861790:G:C	W530C	0.999
7:100861790:G:T	W530C	0.999
7:100861865:G:C	K555N	0.999
7:100861865:G:T	K555N	0.999
7:100861888:G:A	G563D	0.999
7:100861894:T:A	V565D	0.999
7:100862722:T:A	W585R	0.999
7:100862722:T:C	W585R	0.999

dbSNP variants (sampled 300 via entrez): RS1000070811 (7:100849904 G>A,C), RS1000081794 (7:100842242 C>A), RS1000084301 (7:100844277 T>A,C), RS1000093956 (7:100853576 A>T), RS1000225657 (7:100824929 G>A), RS1000292594 (7:100844592 G>A), RS1000399833 (7:100839558 G>A,C), RS1000549709 (7:100859890 T>C), RS1000616346 (7:100858669 A>C,T), RS1000627721 (7:100865441 G>A), RS1000705298 (7:100867323 G>A,C), RS1000717909 (7:100825598 C>A,T), RS1000723995 (7:100867032 G>T), RS1000827995 (7:100833583 G>C), RS1000914401 (7:100843303 C>T)

Disease associations

OMIM: gene MIM:616861 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal recessive
complex neurodevelopmental disorder	Moderate	Autosomal recessive

Mondo (2): complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000731_2	Resting heart rate	6.000000e-10
GCST000973_1	Hypertension	3.000000e-08
GCST001684_4	Plasminogen activator inhibitor type 1 levels (PAI-1)	6.000000e-13
GCST006231_32	Mean arterial pressure	2.000000e-06
GCST006988_179	Blond vs. brown/black hair color	2.000000e-34
GCST006988_92	Blond vs. brown/black hair color	2.000000e-15
GCST007250_7	Nonunion in individuals with fractures	3.000000e-07
GCST008103_164	Bipolar disorder	7.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004792	plasminogen activator inhibitor 1 measurement
EFO:0006340	mean arterial pressure
EFO:0003924	hair color
EFO:0009707	fractures, ununited

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — SLC12 family of cation-coupled chloride transporters

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, affects expression, increases abundance	2
Tobacco Smoke Pollution	decreases expression	2
Cyclosporine	decreases expression, decreases methylation	2
Cadmium Chloride	decreases expression	2
FR900359	increases phosphorylation	1
ginger extract	decreases expression, increases abundance	1
triphenyl phosphate	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases expression, increases response to substance	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Environmental Pollutants	affects expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Nickel	increases expression	1
Oils, Volatile	decreases expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Zinc	increases expression	1
Zidovudine	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Zinc Sulfate	increases expression	1
Vitamin K 3	affects expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2FI	Abcam HeLa SLC12A9 KO	Cancer cell line	Female
CVCL_D4HU	HCT116-SLC12A9-KO-c3	Cancer cell line	Male
CVCL_D4HV	HCT116-SLC12A9-KO-c5	Cancer cell line	Male
CVCL_E0NI	Ubigene HeLa SLC12A9 KO	Cancer cell line	Female
CVCL_TL57	HAP1 SLC12A9 (-) 1	Cancer cell line	Male
CVCL_TL58	HAP1 SLC12A9 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism