SLC9A7

Summary

SLC9A7 (solute carrier family 9 member A7, HGNC:17123) is a protein-coding gene on chromosome Xp11.3, encoding Sodium/hydrogen exchanger 7 (Q96T83). Golgi Na(+), K(+)/(H+) antiporter.

This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 84679 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual developmental disorder, X-linked 108 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 286 total — 2 likely-pathogenic
• Phenotypes (HPO): 29
• MANE Select transcript: NM_001257291

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17123
Approved symbol	SLC9A7
Name	solute carrier family 9 member A7
Location	Xp11.3
Locus type	gene with protein product
Status	Approved
Aliases	NHE7, NHE-7
Ensembl gene	ENSG00000065923
Ensembl biotype	protein_coding
OMIM	300368
Entrez	84679

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000328306, ENST00000464933, ENST00000489574, ENST00000491894, ENST00000616978, ENST00000851998

RefSeq mRNA: 2 — MANE Select: NM_001257291 NM_001257291, NM_032591

CCDS: CCDS14269, CCDS75967

Canonical transcript exons

ENST00000616978 — 17 exons

Exon	Start	End
ENSE00003586430	46613289	46613394
ENSE00003612975	46631586	46631649
ENSE00003684196	46620977	46621059
ENSE00003731626	46653609	46653714
ENSE00003739836	46662016	46662157
ENSE00003750802	46758705	46759118
ENSE00003753684	46599251	46607203
ENSE00003889790	46651316	46651404
ENSE00003891980	46672551	46672627
ENSE00003893118	46682336	46682535
ENSE00003893234	46669607	46669719
ENSE00003893768	46635589	46635648
ENSE00003894049	46651110	46651223
ENSE00003895731	46662538	46662643
ENSE00003895956	46679678	46679755
ENSE00003896173	46648686	46648797
ENSE00003896251	46643236	46643389

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 94.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6846 / max 270.4276, expressed in 1583 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199077	12.5729	1580
199078	0.0829	34
199071	0.0288	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	94.62	gold quality
lateral globus pallidus	UBERON:0002476	92.92	gold quality
superior vestibular nucleus	UBERON:0007227	92.89	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.38	gold quality
entorhinal cortex	UBERON:0002728	90.78	gold quality
mammary duct	UBERON:0001765	89.88	gold quality
nucleus accumbens	UBERON:0001882	89.86	gold quality
middle temporal gyrus	UBERON:0002771	89.61	gold quality
parietal lobe	UBERON:0001872	89.00	gold quality
postcentral gyrus	UBERON:0002581	88.97	gold quality
dorsal root ganglion	UBERON:0000044	87.46	gold quality
caudate nucleus	UBERON:0001873	87.15	gold quality
superior frontal gyrus	UBERON:0002661	86.71	gold quality
epithelium of mammary gland	UBERON:0003244	85.93	gold quality
trigeminal ganglion	UBERON:0001675	85.91	gold quality
putamen	UBERON:0001874	85.76	gold quality
secondary oocyte	CL:0000655	84.89	gold quality
ventral tegmental area	UBERON:0002691	84.41	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.61	gold quality
endothelial cell	CL:0000115	83.23	gold quality
epithelium of nasopharynx	UBERON:0001951	82.98	gold quality
globus pallidus	UBERON:0001875	82.72	gold quality
medulla oblongata	UBERON:0001896	82.63	gold quality
superficial temporal artery	UBERON:0001614	82.45	gold quality
pylorus	UBERON:0001166	82.31	gold quality
primary visual cortex	UBERON:0002436	81.82	gold quality
temporal lobe	UBERON:0001871	81.64	gold quality
occipital lobe	UBERON:0002021	81.30	gold quality
parotid gland	UBERON:0001831	81.18	gold quality
medial globus pallidus	UBERON:0002477	81.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

213 targeting SLC9A7, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281

Literature-anchored findings (GeneRIF, showing 9)

• Secretory carrier membrane proteins participate in the shuttling of NHE7 between recycling vesicles and the TGN (PMID:15840657)
• Among the NHE7-binding proteins identified, CD44, a cell surface glycoprotein receptor for hyaluronate and other ligands, showed regulated interaction with NHE7. (PMID:18654930)
• The results suggest that two membrane proximal regions (residues 533-559 and 563-568) play an important role in targeting NHE7 to the TGN (PMID:20364249)
• 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)
• these results suggest that NHE7 enhances tumor progression. (PMID:22076128)
• NHE7 mediates an acidification of intracellular vesicles that is additive to that of V-ATPases and that accelerates endocytosis. (PMID:24767989)
• In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8). (PMID:28166740)
• These data implicate a crucial role for SLC9A7 in the regulation of TGN/post-Golgi pH homeostasis and glycosylation of exported cargo, which may underlie the cellular pathophysiology and neurodevelopmental deficits associated with this particular nonsyndromic form of X-linked intellectual disability. (PMID:30335141)
• NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma. (PMID:38152992)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc9a7	ENSDARG00000076754
mus_musculus	Slc9a7	ENSMUSG00000037341
rattus_norvegicus	Slc9a7	ENSRNOG00000004150
caenorhabditis_elegans		WBGENE00003730
caenorhabditis_elegans		WBGENE00003734

Paralogs (10): SLC9A3 (ENSG00000066230), SLC9A1 (ENSG00000090020), SLC9A2 (ENSG00000115616), SLC9A5 (ENSG00000135740), SLC9C2 (ENSG00000162753), SLC9C1 (ENSG00000172139), SLC9A4 (ENSG00000180251), SLC9A9 (ENSG00000181804), SLC9A8 (ENSG00000197818), SLC9A6 (ENSG00000198689)

Protein

Protein identifiers

Sodium/hydrogen exchanger 7 — Q96T83 (reviewed: Q96T83)

Alternative names: Na(+)/H(+) exchanger 7, Solute carrier family 9 member 7

All UniProt accessions (2): Q96T83, A0A087WXD1

UniProt curated annotations — full annotation on UniProt →

Function. Golgi Na(+), K(+)/(H+) antiporter. Mediates the electoneutral influx of Na(+) or K(+) in exchange for H(+). May contribute to the regulation of Golgi apparatus volume and pH.

Subunit / interactions. Interacts with SCAMP1, SCAMP2 and SCAMP5; may participate in its shuttling from trans-Golgi network to recycling endosomes.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Recycling endosome membrane. Cell membrane.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. N-glycosylated.

Disease relevance. Intellectual developmental disorder, X-linked 108 (XLID108) [MIM:301024] A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by benzamil and quinine but not by amiloride.

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

RefSeq proteins (2): NP_001244220, NP_115980 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002090	NHE-6/7/9	Family
IPR004709	NaH_exchanger	Family
IPR006153	Cation/H_exchanger_TM	Domain
IPR018422	Cation/H_exchanger_CPA1	Family

Pfam: PF00999

Catalyzed reactions (Rhea), 2 shown:

• Na(+)(in) + H(+)(out) = Na(+)(out) + H(+)(in) (RHEA:29419)
• K(+)(in) + H(+)(out) = K(+)(out) + H(+)(in) (RHEA:29467)

UniProt features (39 total): topological domain 14, transmembrane region 14, region of interest 5, compositionally biased region 2, chain 1, modified residue 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T83-F1	67.55	0.22

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): 545

Glycosylation sites (1): 145

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: 245 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, TGCGCANK_UNKNOWN, E2F4DP1_01, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GCANCTGNY_MYOD_Q6, AREB6_03, GOZGIT_ESR1_TARGETS_DN, TGACCTY_ERR1_Q2, GOBP_MONOATOMIC_CATION_TRANSPORT, E2F1DP1_01, GOCC_TRANS_GOLGI_NETWORK, E2F1DP2_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGANTCA_AP1_C, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (12): monoatomic ion transport (GO:0006811), regulation of pH (GO:0006885), regulation of intracellular pH (GO:0051453), potassium ion transmembrane transport (GO:0071805), sodium ion import across plasma membrane (GO:0098719), obsolete regulation of Golgi lumen acidification (GO:1905526), monoatomic cation transport (GO:0006812), potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)

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 (8): Golgi membrane (GO:0000139), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), endosome (GO:0005768), Golgi apparatus (GO:0005794)

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
transport	2
metal ion transport	2
metal cation:proton antiporter activity	2
endomembrane system	2
monoatomic cation homeostasis	1
biological regulation	1
regulation of pH	1
intracellular monoatomic cation homeostasis	1
regulation of biological quality	1
potassium ion transport	1
sodium ion transmembrane transport	1
inorganic cation import across plasma membrane	1
monoatomic ion transport	1
sodium ion transport	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
Golgi apparatus subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1
endosome	1
endosome membrane	1
recycling endosome	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC9A7	SLC9B2	Q86UD5	889
SLC9A7	KRABD4	Q5JUW0	881
SLC9A7	CHST7	Q9NS84	838
SLC9A7	RACK1	P25388	712
SLC9A7	ZNF674	Q2M3X9	698
SLC9A7	DIPK2A	Q8NDZ4	633
SLC9A7	SLC9A5	Q14940	585
SLC9A7	CDKL5	O76039	542
SLC9A7	PCDH19	Q8TAB3	506
SLC9A7	MAPT	P10636	503
SLC9A7	DOCK3	Q8IZD9	462
SLC9A7	UBE3A	P78355	462
SLC9A7	PCDH10	Q9P2E7	447
SLC9A7	SLC9B1	Q4ZJI4	446
SLC9A7	NPAS4	Q8IUM7	443

IntAct

26 interactions, top by confidence:

A	B	Type	Score
SLC9A7	SCAMP2	psi-mi:“MI:0915”(physical association)	0.600
SLC9A7	SCAMP2	psi-mi:“MI:0403”(colocalization)	0.600
SLC9A6	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.530
SLC9A6	ALDH3A2	psi-mi:“MI:0914”(association)	0.530
SLC9A6	IFNGR1	psi-mi:“MI:0914”(association)	0.530
SLC9A7	Scamp1	psi-mi:“MI:0914”(association)	0.430
SLC9A7	Scamp2	psi-mi:“MI:0403”(colocalization)	0.430
SLC9A7	Scamp1	psi-mi:“MI:0403”(colocalization)	0.430
SLC9A7	Scamp5	psi-mi:“MI:0403”(colocalization)	0.430
SLC9A7	SCAMP1	psi-mi:“MI:0915”(physical association)	0.400
SLC9A7	SCAMP5	psi-mi:“MI:0915”(physical association)	0.400
SLC9A7	GPR35	psi-mi:“MI:0915”(physical association)	0.370
	NPC1	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
SLC9A6	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC9A7	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC9A9	PODXL	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): SLC9A7 (Affinity Capture-MS), SLC9A7 (Affinity Capture-RNA), SLC9A7 (Proximity Label-MS), SLC9A7 (Two-hybrid), SLC9A7 (Proximity Label-MS), SLC9A7 (Affinity Capture-MS), SLC9A7 (Proximity Label-MS), SLC9A7 (Co-fractionation), SLC9A7 (Co-fractionation), SLC9A7 (Co-fractionation), TPCN2 (Co-fractionation), SLC9A7 (Co-fractionation), SLC9A7 (Co-fractionation), TMEM237 (Co-fractionation), SLC9A7 (Affinity Capture-MS)

ESM2 similar proteins: A0A075B734, A1L272, A2IBY8, A8W649, A9Y006, D4A7H1, E7EXX2, F7B113, O14520, O35454, O54794, O62735, O94956, P34080, P35525, P41181, P47862, P47863, P47864, P51789, P51797, P56402, P56403, P79099, Q06495, Q06496, Q08DE6, Q4R691, Q5PQL3, Q62052, Q866S3, Q8BLV3, Q8BXB6, Q8BZ00, Q8IVB4, Q8K078, Q8MIQ9, Q8R2N1, Q8TCT8, Q921R8

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
SLC9A7	“down-regulates quantity”	hydron	relocalization
SLC9A7	“up-regulates quantity”	sodium(1+)	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	143
Likely benign	47
Benign	15

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4277924	NM_001257291.2(SLC9A7):c.1147+2T>C	Likely pathogenic
548948	NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)	Likely pathogenic

SpliceAI

3777 predictions. Top by Δscore:

Variant	Effect	Δscore
X:46607040:T:TA	donor_gain	1.0000
X:46607199:TGGTT:T	acceptor_gain	1.0000
X:46607204:C:CC	acceptor_gain	1.0000
X:46607204:C:T	acceptor_loss	1.0000
X:46607211:G:C	acceptor_gain	1.0000
X:46607211:G:GC	acceptor_gain	1.0000
X:46607214:C:CT	acceptor_gain	1.0000
X:46607215:A:T	acceptor_gain	1.0000
X:46607218:C:CT	acceptor_gain	1.0000
X:46607218:C:T	acceptor_gain	1.0000
X:46607219:A:T	acceptor_gain	1.0000
X:46620968:A:C	donor_gain	1.0000
X:46620975:A:AC	donor_gain	1.0000
X:46620976:C:CC	donor_gain	1.0000
X:46621019:T:A	donor_gain	1.0000
X:46621058:TCC:T	acceptor_loss	1.0000
X:46621059:CCT:C	acceptor_loss	1.0000
X:46621060:C:CC	acceptor_gain	1.0000
X:46621061:T:C	acceptor_loss	1.0000
X:46631584:ACC:A	donor_gain	1.0000
X:46631585:CCC:C	donor_gain	1.0000
X:46631650:C:CC	acceptor_gain	1.0000
X:46631661:C:CT	acceptor_gain	1.0000
X:46631661:C:T	acceptor_gain	1.0000
X:46631662:A:T	acceptor_gain	1.0000
X:46634683:G:C	acceptor_gain	1.0000
X:46634687:G:C	acceptor_gain	1.0000
X:46643390:C:CC	acceptor_gain	1.0000
X:46662090:A:AC	donor_gain	1.0000
X:46662091:C:CC	donor_gain	1.0000

AlphaMissense

4745 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:46643381:C:G	G490R	1.000
X:46643381:C:T	G490R	1.000
X:46651172:C:G	G429R	1.000
X:46651182:G:C	F425L	1.000
X:46651182:G:T	F425L	1.000
X:46651184:A:G	F425L	1.000
X:46682535:C:T	G109E	1.000
X:46758705:C:A	G109W	1.000
X:46758705:C:G	G109R	1.000
X:46758705:C:T	G109R	1.000
X:46643275:C:T	G525E	0.999
X:46643285:A:G	W522R	0.999
X:46643285:A:T	W522R	0.999
X:46643360:C:G	A497P	0.999
X:46643365:G:T	A495E	0.999
X:46643367:A:C	F494L	0.999
X:46643367:A:T	F494L	0.999
X:46643369:A:G	F494L	0.999
X:46643380:C:A	G490V	0.999
X:46643380:C:T	G490E	0.999
X:46643383:C:A	R489M	0.999
X:46651168:A:G	L430P	0.999
X:46651171:C:T	G429D	0.999
X:46651172:C:A	G429C	0.999
X:46651199:C:G	A420P	0.999
X:46651201:A:G	L419P	0.999
X:46651203:G:C	F418L	0.999
X:46651203:G:T	F418L	0.999
X:46651205:A:G	F418L	0.999
X:46662544:A:G	L298P	0.999

dbSNP variants (sampled 300 via entrez): RS1000004423 (X:46668515 A>C), RS1000010364 (X:46625447 C>T), RS1000026028 (X:46734226 T>G), RS1000098183 (X:46704720 A>G), RS1000108217 (X:46740921 CT>C), RS1000166332 (X:46714770 A>G), RS1000172333 (X:46704110 C>G), RS1000307246 (X:46754948 C>G), RS1000308310 (X:46690802 C>T), RS1000358087 (X:46613695 T>A), RS1000361649 (X:46691463 AG>A), RS1000362331 (X:46606327 G>A), RS1000370003 (X:46691899 A>T), RS1000376694 (X:46645531 A>G), RS1000446401 (X:46695606 C>A,T)

Disease associations

OMIM: gene MIM:300368 | disease phenotypes: MIM:301024

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual developmental disorder, X-linked 108	Strong	X-linked
non-syndromic X-linked intellectual disability	Supportive	X-linked

Mondo (2): intellectual developmental disorder, X-linked 108 (MONDO:0026723), non-syndromic X-linked intellectual disability (MONDO:0019181)

Orphanet (0):

HPO phenotypes

29 total (29 of 29 shown, HPO-id order):

HPO	Term
HP:0000219	Thin upper lip vermilion
HP:0000276	Long face
HP:0000343	Long philtrum
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000750	Delayed speech and language development
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001348	Brisk reflexes
HP:0001419	X-linked recessive inheritance
HP:0001763	Pes planus
HP:0002058	Myopathic facies
HP:0002136	Broad-based gait
HP:0002307	Drooling
HP:0002342	Moderate intellectual disability
HP:0003487	Babinski sign
HP:0003593	Infantile onset
HP:0003701	Proximal muscle weakness
HP:0004209	Clinodactyly of the 5th finger
HP:0007018	Attention deficit hyperactivity disorder
HP:0009890	High anterior hairline
HP:0011800	Midface retrusion
HP:0025336	Delayed ability to sit
HP:0025502	Overweight
HP:0031936	Delayed ability to walk

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST90002383_119	Hematocrit	1.000000e-13
GCST90002384_514	Hemoglobin	1.000000e-14
GCST90002389_495	Lymphocyte percentage of white cells	7.000000e-09
GCST90002398_33	Neutrophil count	8.000000e-18
GCST90002399_109	Neutrophil percentage of white cells	5.000000e-09
GCST90002407_380	White blood cell count	1.000000e-15

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564490	Mental Retardation, X-Linked Nonsyndromic (supp.)

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 — SLC9 family of sodium/hydrogen exchangers

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects methylation, affects cotreatment, increases abundance	3
Acetaminophen	increases expression	2
Arsenic	affects methylation, affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation, affects methylation	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
terbufos	increases methylation	1
benzamil	decreases activity	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
potassium chromate(VI)	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
3-iodothyronamine	affects uptake	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
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Caffeine	decreases phosphorylation	1
Fonofos	increases methylation	1
Lead	affects expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Parathion	increases methylation	1
Potassium	affects cotreatment, affects transport, increases uptake	1
Protons	affects cotreatment, affects transport, increases export	1
Quinine	decreases activity	1
Sodium	affects cotreatment, affects transport, increases uptake	1
Tobacco Smoke Pollution	decreases methylation	1
Tretinoin	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4QW	HCT116-SLC9A7-KO-c15	Cancer cell line	Male
CVCL_D4QX	HCT116-SLC9A7-KO-c22	Cancer cell line	Male
CVCL_TP27	HAP1 SLC9A7 (-) 1	Cancer cell line	Male
CVCL_TP28	HAP1 SLC9A7 (-) 2	Cancer cell line	Male
CVCL_TP29	HAP1 SLC9A7 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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