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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC9B1
solute carrier family 9 member B1
Chromosome 4 Β· 4q24
NCBI Gene: 150159Ensembl: ENSG00000164037.18HGNC: HGNC:24244UniProt: A0A140VJQ1
8PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosoltransmembrane transportsperm principal pieceregulation of intracellular pHWolfram syndrome 2hypertensionAbnormality of the skeletal systemtype 2 diabetes mellitus
✦AI Summary

SLC9B1 encodes NHA1 (NHEDC1), a sperm-specific Na+/H+ exchanger that plays essential roles in male fertility 1. The protein is predominantly expressed in testis, specifically localizing to seminiferous tubule cells, and functions in intracellular pH regulation of spermatozoa 2. SLC9B1 is crucial for sperm motility and fertility through its sodium-proton antiporter activity 1. The gene's expression is regulated by complex mechanisms involving DNA methylation at multiple regulatory elements, including two promoters (P1 and P2) and CpG islands, with tissue-specific methylation patterns controlling testis-specific expression 2. Interestingly, SLC9B1 methylation patterns in maternal blood samples can predict fetal intolerance of labor, with high predictive values (positive predictive values 0.80-0.89, negative predictive values 0.91-0.92), suggesting potential clinical utility in obstetric care 3. Beyond reproductive function, genome-wide association studies have identified SLC9B1 as potentially involved in diverse conditions including dilated cardiomyopathy risk and migraine susceptibility, indicating broader physiological roles 45. The protein belongs to the SLC9B subfamily of Na+/H+ exchangers, which share greater similarity to prokaryotic NHEs compared to other mammalian NHE isoforms 1.

Sources cited
1
SLC9B1 encodes NHA1, a sperm-specific Na+/H+ exchanger important for sperm motility and male fertility
PMID: 35694410
2
SLC9B1 protein is testis-specific, localizes to seminiferous tubules, and its expression is regulated by DNA methylation at multiple regulatory elements
PMID: 25701605
3
SLC9B1 methylation patterns in maternal blood can predict fetal intolerance of labor with high predictive values
PMID: 29235940
4
SLC9B1 identified as potentially associated with dilated cardiomyopathy risk through Mendelian randomization analysis
PMID: 41467369
5
SLC9B1 identified as a putative migraine gene through cross-trait genome-wide association analysis
PMID: 34273149
Disease Associationsβ“˜20
Wolfram syndrome 2Open Targets
0.44Moderate
hypertensionOpen Targets
0.40Weak
Abnormality of the skeletal systemOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
Usher syndromeOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.29Weak
neuroendocrine neoplasmOpen Targets
0.28Weak
cardiovascular diseaseOpen Targets
0.28Weak
essential hypertensionOpen Targets
0.28Weak
inborn disorder of amino acid metabolismOpen Targets
0.27Weak
schizophreniaOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.23Weak
thyroiditisOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
migraine disorderOpen Targets
0.22Weak
spermatoceleOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.20Weak
genetic disorderOpen Targets
0.18Weak
diabetic neuropathyOpen Targets
0.13Weak
Pathogenic Variants1
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)Pathogenic
Usher syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 447
View on ClinVar β†—
Related Genes
SLC9C1Protein interaction57%SLC9B2Shared pathway42%SLC9A5Shared pathway40%SLC9A3Shared pathway36%SLC9A4Shared pathway33%SLC9C2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
47%
Brain
31%
Liver
30%
Heart
22%
Lung
18%
Gene Interaction Network
Click a node to explore
SLC9B1SLC9C1SLC9B2SLC9A5SLC9A3SLC9A4SLC9C2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q4ZJI4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.59 [0.36–1.00]
RankingsWhere SLC9B1 stands among ~20K protein-coding genes
  • #17,712of 20,598
    Most Researched8
  • #5,488of 5,498
    Most Pathogenic Variants1
  • #9,668of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedSLC9B1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification and characterization of methylation-dependent/independent DNA regulatory elements in the human SLC9B1 gene.
PMID: 25701605
Gene Β· 2015
1.00
2
Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.
PMID: 39465437
J Transl Med Β· 2024
0.90
3
Potential Risk Factors and Therapeutic Targets for Dilated Cardiomyopathy Identified Through Mendelian Randomization Analysis.
PMID: 41467369
J Am Heart Assoc Β· 2026
0.80
4
Traditional and emerging roles for the SLC9 Na+/H+ exchangers.
PMID: 24337822
Pflugers Arch Β· 2014
0.70
5
SLC9B1 methylation predicts fetal intolerance of labor.
PMID: 29235940
Epigenetics Β· 2018
0.60