Seroatlas · Human Serome Atlas

SLC9A6

Sodium/hydrogen exchanger 6

Also known as: KIAA0267, NHE-6, NHE6, SL9A6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q92581
Gene
SLC9A6
Ensembl
ENSG00000198689
Chromosome
X
Canonical length
701 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles,Plasma membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

701 residues, UniProt reviewed canonical sequence.

>Q92581|SLC9A6
     1  MARRGWRRAP LRRGVGSSPR ARRLMRPLWL LLAVGVFDWA GASDGGGGEA RAMDEEIVSE
    61  KQAEESHRQD SANLLIFILL LTLTILTIWL FKHRRARFLH ETGLAMIYGL LVGLVLRYGI
   121  HVPSDVNNVT LSCEVQSSPT TLLVNVSGKF YEYMLKGEIS SHELNNVQDN EMLRKVTFDP
   181  EVFFNILLPP IIFYAGYSLK RRHFFRNLGS ILAYAFLGTA ISCFVIGSIM YGCVTLMKVT
   241  GQLAGDFYFT DCLLFGAIVS ATDPVTVLAI FHELQVDVEL YALLFGESVL NDAVAIVLSS
   301  SIVAYQPAGD NSHTFDVTAM FKSIGIFLGI FSGSFAMGAA TGVVTALVTK FTKLREFQLL
   361  ETGLFFLMSW STFLLAEAWG FTGVVAVLFC GITQAHYTYN NLSTESQHRT KQLFELLNFL
   421  AENFIFSYMG LTLFTFQNHV FNPTFVVGAF VAIFLGRAAN IYPLSLLLNL GRRSKIGSNF
   481  QHMMMFAGLR GAMAFALAIR DTATYARQMM FSTTLLIVFF TVWVFGGGTT AMLSCLHIRV
   541  GVDSDQEHLG VPENERRTTK AESAWLFRMW YNFDHNYLKP LLTHSGPPLT TTLPACCGPI
   601  ARCLTSPQAY ENQEQLKDDD SDLILNDGDI SLTYGDSTVN TEPATSSAPR RFMGNSSEDA
   661  LDRELAFGDH ELVIRGTRLV LPMDDSEPPL NLLDNTRHGP A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC9A6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
37 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 37 nTPM
  • basal ganglia: 14 nTPM
  • retina: 13 nTPM
  • cerebellum: 12 nTPM
  • hypothalamus: 10 nTPM
  • parathyroid gland: 9.8 nTPM

Single-cell type

  • pituicytes/fscs: 307 nCPM
  • other brain neurons: 57 nCPM
  • brain inhibitory neurons: 57 nCPM
  • retinal horizontal cells: 56 nCPM
  • brain excitatory neurons: 51 nCPM
  • astrocytes: 39 nCPM

Immune cell

  • MAIT T-cell: 11 nTPM
  • naive CD4 T-cell: 7.6 nTPM
  • memory CD4 T-cell: 7.1 nTPM
  • intermediate monocyte: 7 nTPM
  • T-reg: 6.9 nTPM
  • gdT-cell: 6.4 nTPM

Brain region

  • hypothalamus: 76 nTPM
  • cerebral cortex: 67 nTPM
  • hippocampal formation: 62 nTPM
  • basal ganglia: 59 nTPM
  • pons: 52 nTPM
  • thalamus: 46 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC9A6.

Disease | AllUniProt

Conditions SLC9A6 is implicated in, by any mechanism.

  • Intellectual developmental disorder, X-linked, syndromic, Christianson type (MRXSCH) MIM:300243
  • Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement (NDPACX) MIM:301142

Disease | GeneticClinVar

68 pathogenic / likely-pathogenic of 771 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.21
gnomAD pLI
1
gnomAD missense Z
2.95
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC9A6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC9A6 as an antibody target. Whether an autoantibody or antibody against SLC9A6 could matter depends on whether native SLC9A6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC9A6 is annotated at the cell surface, where native SLC9A6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC9A6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC9A6. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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