SLC9A4
geneOn this page
Also known as NHE4
Summary
SLC9A4 (solute carrier family 9 member A4, HGNC:11077) is a protein-coding gene on chromosome 2q12.1, encoding Sodium/hydrogen exchanger 4 (Q6AI14). Electroneutral antiporter that exchanges sodium for protons or ammonium ions at the basolateral membrane of epithelia to regulate cell volume and intracellular pH upon hypertonic conditions.
Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in monoatomic cation transmembrane transport; regulation of intracellular pH; and transepithelial ammonium transport. Predicted to act upstream of or within gastric acid secretion and glandular epithelial cell development. Predicted to be located in basolateral plasma membrane. Predicted to be active in plasma membrane.
Source: NCBI Gene 389015 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 159 total
- MANE Select transcript:
NM_001011552
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11077 |
| Approved symbol | SLC9A4 |
| Name | solute carrier family 9 member A4 |
| Location | 2q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NHE4 |
| Ensembl gene | ENSG00000180251 |
| Ensembl biotype | protein_coding |
| OMIM | 600531 |
| Entrez | 389015 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron
ENST00000295269, ENST00000492154
RefSeq mRNA: 1 — MANE Select: NM_001011552
NM_001011552
CCDS: CCDS33264
Canonical transcript exons
ENST00000295269 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000999646 | 102519859 | 102519955 |
| ENSE00000999647 | 102514090 | 102514251 |
| ENSE00001163913 | 102512203 | 102512273 |
| ENSE00001237904 | 102525024 | 102525155 |
| ENSE00001471641 | 102532330 | 102533972 |
| ENSE00001471643 | 102526259 | 102526346 |
| ENSE00001471644 | 102508847 | 102508933 |
| ENSE00001471646 | 102508079 | 102508281 |
| ENSE00001471647 | 102505254 | 102505471 |
| ENSE00001471648 | 102503448 | 102503707 |
| ENSE00001471649 | 102478839 | 102479302 |
| ENSE00001471650 | 102473226 | 102474015 |
Expression profiles
Bgee: expression breadth broad, 67 present calls, max score 83.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1582 / max 82.5784, expressed in 66 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21752 | 0.0428 | 21 |
| 21751 | 0.0347 | 14 |
| 21748 | 0.0235 | 5 |
| 21750 | 0.0224 | 7 |
| 21749 | 0.0210 | 6 |
| 21753 | 0.0138 | 5 |
Top tissues by expression
125 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.87 | gold quality |
| stomach | UBERON:0000945 | 79.33 | gold quality |
| body of stomach | UBERON:0001161 | 78.30 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 75.10 | gold quality |
| fundus of stomach | UBERON:0001160 | 72.84 | gold quality |
| kidney | UBERON:0002113 | 70.85 | gold quality |
| metanephros cortex | UBERON:0010533 | 69.12 | gold quality |
| gall bladder | UBERON:0002110 | 67.36 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 65.76 | gold quality |
| duodenum | UBERON:0002114 | 64.82 | gold quality |
| mucosa of stomach | UBERON:0001199 | 60.90 | gold quality |
| cortex of kidney | UBERON:0001225 | 58.14 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 57.04 | gold quality |
| tonsil | UBERON:0002372 | 53.97 | gold quality |
| esophagus mucosa | UBERON:0002469 | 53.38 | gold quality |
| endometrium | UBERON:0001295 | 52.82 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 51.08 | gold quality |
| urinary bladder | UBERON:0001255 | 49.55 | gold quality |
| minor salivary gland | UBERON:0001830 | 49.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 48.01 | silver quality |
| rectum | UBERON:0001052 | 46.54 | gold quality |
| bone marrow | UBERON:0002371 | 45.27 | gold quality |
| skin of leg | UBERON:0001511 | 44.80 | gold quality |
| bone marrow cell | CL:0002092 | 44.20 | gold quality |
| zone of skin | UBERON:0000014 | 44.15 | gold quality |
| skin of abdomen | UBERON:0001416 | 42.89 | gold quality |
| colonic epithelium | UBERON:0000397 | 41.16 | gold quality |
| esophagus | UBERON:0001043 | 40.86 | gold quality |
| blood | UBERON:0000178 | 40.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 40.08 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.23 |
| E-MTAB-6386 | no | 14.88 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 4)
- T84 human colon cells contain three isoforms of the Na+/H+ exchanger, NHE1, NHE2, and NHE4, but not the Cl-dependent NHE (PMID:17943310)
- Data demonstrate functional NHE4 activity in the rat and human colon and suggest that this exchanger is capable of modulating intracellular pH over a wide pH spectrum and may play an important role in maintaining cellular pH homeostasis. (PMID:22049213)
- Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants. (PMID:33769074)
- Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4. (PMID:34785669)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc9a4 | ENSMUSG00000026065 |
| rattus_norvegicus | Slc9a4 | ENSRNOG00000015306 |
| drosophila_melanogaster | Nhe3 | FBGN0028703 |
| drosophila_melanogaster | Nhe2 | FBGN0040297 |
| caenorhabditis_elegans | WBGENE00003730 | |
| caenorhabditis_elegans | WBGENE00003732 | |
| caenorhabditis_elegans | WBGENE00003733 | |
| caenorhabditis_elegans | WBGENE00003734 |
Paralogs (10): SLC9A7 (ENSG00000065923), SLC9A3 (ENSG00000066230), SLC9A1 (ENSG00000090020), SLC9A2 (ENSG00000115616), SLC9A5 (ENSG00000135740), SLC9C2 (ENSG00000162753), SLC9C1 (ENSG00000172139), SLC9A9 (ENSG00000181804), SLC9A8 (ENSG00000197818), SLC9A6 (ENSG00000198689)
Protein
Protein identifiers
Sodium/hydrogen exchanger 4 — Q6AI14 (reviewed: Q6AI14)
Alternative names: Na(+)/H(+) exchanger 4, Solute carrier family 9 member 4
All UniProt accessions (1): Q6AI14
UniProt curated annotations — full annotation on UniProt →
Function. Electroneutral antiporter that exchanges sodium for protons or ammonium ions at the basolateral membrane of epithelia to regulate cell volume and intracellular pH upon hypertonic conditions. As part of transcellular ammonia transport in renal tubules, mediates basolateral ammonium extrusion in the medullary thick ascending limb, regulating the corticopapillary ammonium gradient and overall renal acid excretion. Mediates sodium:proton exchange in gastric parietal cells secondary to cAMP-dependent acid secretion and hyperosmolarity. Possibly coupled to chloride:bicarbonate antiporter, enables loading of parietal cells with sodium and chloride ions to maintain cell volume and normal gastric acid secretion. Functions as a sodium sensor in neurons of organum vasculosum of the lamina terminalis where it regulates water intake in response to increased sodium concentration in body fluids.
Subunit / interactions. Homodimer; each protomer has one site for sodium and one site for proton binding. Interacts with CHP1 and CHP2.
Subcellular location. Basolateral cell membrane. Apical cell membrane. Zymogen granule membrane.
Post-translational modifications. May be phosphorylated.
Similarity. Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
RefSeq proteins (1): NP_001011552* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001953 | NHE-2/4 | Family |
| IPR004709 | NaH_exchanger | Family |
| IPR006153 | Cation/H_exchanger_TM | Domain |
| IPR018422 | Cation/H_exchanger_CPA1 | Family |
| IPR032103 | NHE_CaM-bd | Domain |
Pfam: PF00999, PF16644
Catalyzed reactions (Rhea), 2 shown:
- Na(+)(in) + H(+)(out) = Na(+)(out) + H(+)(in) (RHEA:29419)
- Na(+)(out) + NH4(+)(in) = Na(+)(in) + NH4(+)(out) (RHEA:76431)
UniProt features (36 total): topological domain 14, transmembrane region 10, intramembrane region 3, region of interest 2, sequence variant 2, sequence conflict 2, chain 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6AI14-F1 | 66.73 | 0.26 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 342
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: 91 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_DIGESTION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACID_SECRETION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_SECRETORY_GRANULE, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, chr2q12, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_TRANSEPITHELIAL_TRANSPORT, GOBP_SECRETION, GOBP_DIGESTIVE_SYSTEM_PROCESS, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_REGULATION_OF_PH, GOCC_APICAL_PLASMA_MEMBRANE
GO Biological Process (12): gastric acid secretion (GO:0001696), glandular epithelial cell development (GO:0002068), monoatomic ion transport (GO:0006811), regulation of intracellular pH (GO:0051453), transepithelial ammonium transport (GO:0070634), potassium ion transmembrane transport (GO:0071805), sodium ion import across plasma membrane (GO:0098719), monoatomic cation transport (GO:0006812), sodium ion transport (GO:0006814), regulation of pH (GO:0006885), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600)
GO Molecular Function (3): sodium:proton antiporter activity (GO:0015385), potassium:proton antiporter activity (GO:0015386), antiporter activity (GO:0015297)
GO Cellular Component (6): plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), zymogen granule membrane (GO:0042589), 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 |
|---|---|
| transport | 2 |
| monoatomic cation transmembrane transport | 2 |
| metal cation:proton antiporter activity | 2 |
| plasma membrane region | 2 |
| digestive system process | 1 |
| acid secretion | 1 |
| columnar/cuboidal epithelial cell development | 1 |
| glandular epithelial cell differentiation | 1 |
| regulation of pH | 1 |
| intracellular monoatomic cation homeostasis | 1 |
| regulation of biological quality | 1 |
| transepithelial transport | 1 |
| nitrogen compound transport | 1 |
| potassium ion transport | 1 |
| sodium ion transmembrane transport | 1 |
| inorganic cation import across plasma membrane | 1 |
| monoatomic ion transport | 1 |
| metal ion transport | 1 |
| monoatomic cation homeostasis | 1 |
| biological regulation | 1 |
| cellular process | 1 |
| sodium ion transmembrane transporter activity | 1 |
| solute:potassium antiporter activity | 1 |
| secondary active transmembrane transporter activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| basal plasma membrane | 1 |
| apical part of cell | 1 |
| secretory granule membrane | 1 |
| zymogen granule | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
738 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC9A4 | SLC9B2 | Q86UD5 | 585 |
| SLC9A4 | IL18R1 | Q13478 | 574 |
| SLC9A4 | SLC12A1 | Q13621 | 546 |
| SLC9A4 | SLC26A6 | Q9BXS9 | 532 |
| SLC9A4 | IL1RL1 | Q01638 | 520 |
| SLC9A4 | RHCG | Q9UBD6 | 514 |
| SLC9A4 | SLC4A7 | Q9Y6M7 | 513 |
| SLC9A4 | SLC9B1 | Q4ZJI4 | 496 |
| SLC9A4 | ENTR1 | Q96C92 | 490 |
| SLC9A4 | RHBG | Q9H310 | 472 |
| SLC9A4 | NKX2-3 | Q8TAU0 | 468 |
| SLC9A4 | CALM1 | P02593 | 465 |
| SLC9A4 | NHERF1 | O14745 | 453 |
| SLC9A4 | SLC4A4 | Q9Y6R1 | 446 |
| SLC9A4 | SLC4A5 | Q9BY07 | 440 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC9A4 | RNF181 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL37 | SLC9A4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC9A4 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (66): SLC9A4 (Reconstituted Complex), SLC9A4 (Reconstituted Complex), RNF181 (Affinity Capture-MS), SLC9A4 (Affinity Capture-MS), ABHD15 (Affinity Capture-MS), ADCY3 (Affinity Capture-MS), AMFR (Affinity Capture-MS), ARL6IP6 (Affinity Capture-MS), ATF6 (Affinity Capture-MS), B3GALNT2 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), CHP1 (Affinity Capture-MS), CNNM1 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS)
ESM2 similar proteins: A1L3P4, A4IHB9, D3ZJ86, D4A7H1, F7B113, O00341, O16452, O54701, P19634, P23791, P26431, P26432, P26434, P31596, P35449, P43004, P43006, P48761, P48762, P48763, P48764, P50482, Q01345, Q28036, Q3ZAS0, Q4R335, Q56XP4, Q61165, Q68KI4, Q6AI14, Q6DFC0, Q84WG1, Q8BLV3, Q8BUE1, Q8BUN9, Q8BYR8, Q8BZ00, Q8IVB4, Q8JZR4, Q8RWU6
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 |
|---|---|---|---|
| SLC9A4 | “down-regulates quantity” | hydron | relocalization |
| SLC9A4 | “up-regulates quantity” | sodium(1+) | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 136 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2222 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:102479231:G:GT | donor_gain | 1.0000 |
| 2:102505251:TAGA:T | acceptor_loss | 1.0000 |
| 2:102505252:A:AG | acceptor_gain | 1.0000 |
| 2:102505253:G:GC | acceptor_gain | 1.0000 |
| 2:102505253:GA:G | acceptor_gain | 1.0000 |
| 2:102505253:GAA:G | acceptor_gain | 1.0000 |
| 2:102505253:GAATC:G | acceptor_gain | 1.0000 |
| 2:102505462:A:T | donor_gain | 1.0000 |
| 2:102505469:TCA:T | donor_gain | 1.0000 |
| 2:102505472:G:GG | donor_gain | 1.0000 |
| 2:102505483:C:T | donor_gain | 1.0000 |
| 2:102508932:GT:G | donor_gain | 1.0000 |
| 2:102508934:G:GG | donor_gain | 1.0000 |
| 2:102512274:G:GG | donor_gain | 1.0000 |
| 2:102514247:CATCA:C | donor_gain | 1.0000 |
| 2:102514249:TCA:T | donor_gain | 1.0000 |
| 2:102514250:CA:C | donor_gain | 1.0000 |
| 2:102514252:G:GG | donor_gain | 1.0000 |
| 2:102525113:G:GT | donor_gain | 1.0000 |
| 2:102525126:A:T | donor_gain | 1.0000 |
| 2:102526244:A:AG | acceptor_gain | 1.0000 |
| 2:102526244:ACTT:A | acceptor_gain | 1.0000 |
| 2:102526343:TCAG:T | donor_loss | 1.0000 |
| 2:102526344:CAGG:C | donor_loss | 1.0000 |
| 2:102526345:AGGT:A | donor_loss | 1.0000 |
| 2:102526346:GGTAA:G | donor_loss | 1.0000 |
| 2:102526348:T:G | donor_loss | 1.0000 |
| 2:102476062:A:G | donor_gain | 0.9900 |
| 2:102479300:GTG:G | donor_gain | 0.9900 |
| 2:102503442:GCCTA:G | acceptor_loss | 0.9900 |
AlphaMissense
5266 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:102503581:G:A | G285E | 0.999 |
| 2:102503655:A:C | S310R | 0.999 |
| 2:102503657:C:A | S310R | 0.999 |
| 2:102503657:C:G | S310R | 0.999 |
| 2:102478983:T:C | L134P | 0.998 |
| 2:102503593:C:A | A289E | 0.998 |
| 2:102503635:C:A | P303Q | 0.998 |
| 2:102503635:C:G | P303R | 0.998 |
| 2:102503644:T:A | V306D | 0.998 |
| 2:102505299:C:A | N342K | 0.998 |
| 2:102505299:C:G | N342K | 0.998 |
| 2:102505357:A:C | S362R | 0.998 |
| 2:102505359:C:A | S362R | 0.998 |
| 2:102505359:C:G | S362R | 0.998 |
| 2:102473985:T:A | W76R | 0.997 |
| 2:102473985:T:C | W76R | 0.997 |
| 2:102478989:C:G | P136R | 0.997 |
| 2:102503569:G:A | G281D | 0.997 |
| 2:102503580:G:A | G285R | 0.997 |
| 2:102503580:G:C | G285R | 0.997 |
| 2:102479001:T:C | L140P | 0.996 |
| 2:102503568:G:C | G281R | 0.996 |
| 2:102505384:G:C | G371R | 0.996 |
| 2:102478989:C:A | P136Q | 0.995 |
| 2:102503556:G:A | G277R | 0.995 |
| 2:102503556:G:C | G277R | 0.995 |
| 2:102503605:G:C | R293P | 0.995 |
| 2:102503676:G:C | A317P | 0.995 |
| 2:102503677:C:A | A317D | 0.995 |
| 2:102505268:C:A | A332E | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000046180 (2:102491307 T>A), RS1000102975 (2:102512688 G>A,T), RS1000175109 (2:102512587 C>A,T), RS1000216993 (2:102474754 C>A,T), RS1000243556 (2:102494464 T>A,C), RS1000318996 (2:102472181 T>C), RS1000327172 (2:102509924 C>G,T), RS1000462262 (2:102485274 C>G), RS1000518225 (2:102492039 T>C), RS1000525090 (2:102477443 A>C), RS1000537601 (2:102471957 C>T), RS1000652644 (2:102474413 G>A), RS1000668041 (2:102490040 T>C), RS1000677731 (2:102482659 A>T), RS1000684072 (2:102529749 C>G)
Disease associations
OMIM: gene MIM:600531 | disease phenotypes: MIM:207500, MIM:301800
GenCC curated gene-disease
Mondo (1): imperforate anus (MONDO:0001046)
Orphanet (1): Non-syndromic anorectal malformation (Orphanet:557)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000157_6 | Celiac disease | 4.000000e-09 |
| GCST001134_14 | White blood cell types | 7.000000e-06 |
| GCST002166_8 | Serum protein levels (sST2) | 3.000000e-33 |
| GCST003542_105 | Night sleep phenotypes | 9.000000e-06 |
| GCST004131_93 | Inflammatory bowel disease | 5.000000e-11 |
| GCST004132_63 | Crohn’s disease | 6.000000e-11 |
| GCST004627_78 | Lymphocyte count | 6.000000e-16 |
| GCST005851_3 | Delirium | 1.000000e-08 |
| GCST007563_2 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-24 |
| GCST007564_34 | Asthma or allergic disease (pleiotropy) | 2.000000e-27 |
| GCST008058_275 | Estimated glomerular filtration rate | 1.000000e-07 |
| GCST008059_210 | Estimated glomerular filtration rate | 2.000000e-08 |
| GCST008097_17 | Bisphosphonate-associated atypical femoral fracture | 1.000000e-06 |
| GCST008489_8 | Celiac disease | 3.000000e-08 |
| GCST008916_108 | Asthma | 1.000000e-22 |
| GCST008916_29 | Asthma | 2.000000e-60 |
| GCST009874_7 | Celiac disease | 2.000000e-16 |
| GCST010090_2 | Atopic dermatitis | 6.000000e-11 |
| GCST90000025_759 | Appendicular lean mass | 2.000000e-16 |
| GCST90002379_24 | Basophil count | 5.000000e-12 |
| GCST90002391_137 | Mean corpuscular hemoglobin concentration | 5.000000e-13 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004842 | eosinophil count |
| EFO:0004587 | lymphocyte count |
| EFO:0009958 | response to bisphosphonate |
| EFO:0009960 | atypical femoral fracture |
| EFO:0004980 | appendicular lean mass |
| EFO:0005090 | basophil count |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001006 | Anus, Imperforate | C06.198.050; C16.131.314.094 |
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
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 3-iodothyronamine | affects uptake | 1 |
| abrine | decreases expression | 1 |
| NSC668394 | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Estradiol | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Protons | affects transport | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
18 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04904081 | PHASE3 | UNKNOWN | Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery |
| NCT00883571 | Not specified | COMPLETED | Comparative Study of the House Advancement Flap, Rhomboid Flap, and Y-V Anoplasty |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): allergic disease, asthma, atopic eczema, celiac disease, Crohn disease, delirium, imperforate anus, inflammatory bowel disease