Seroatlas · Human Serome Atlas

JPH4

Junctophilin-4

Also known as: JPH4_HUMAN, JPHL1, KIAA1831

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

Protein identityUniProt · HPA

UniProt accession
Q96JJ6
Gene
JPH4
Ensembl
ENSG00000092051
Chromosome
14
Canonical length
628 aa
Protein class
Predicted membrane proteins
Subcellular location
Cytosol

OverviewNCBI Gene

This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

628 residues, UniProt reviewed canonical sequence.

>Q96JJ6|JPH4
     1  MSPGGKFDFD DGGCYVGGWE AGRAHGYGVC TGPGAQGEYS GCWAHGFESL GVFTGPGGHS
    61  YQGHWQQGKR EGLGVERKSR WTYRGEWLGG LKGRSGVWES VSGLRYAGLW KDGFQDGYGT
   121  ETYSDGGTYQ GQWQAGKRHG YGVRQSVPYH QAALLRSPRR TSLDSGHSDP PTPPPPLPLP
   181  GDEGGSPASG SRGGFVLAGP GDADGASSRK RTPAAGGFFR RSLLLSGLRA GGRRSSLGSK
   241  RGSLRSEVSS EVGSTGPPGS EASGPPAAAP PALIEGSATE VYAGEWRADR RSGFGVSQRS
   301  NGLRYEGEWL GNRRHGYGRT TRPDGSREEG KYKRNRLVHG GRVRSLLPLA LRRGKVKEKV
   361  DRAVEGARRA VSAARQRQEI AAARAADALL KAVAASSVAE KAVEAARMAK LIAQDLQPML
   421  EAPGRRPRQD SEGSDTEPLD EDSPGVYENG LTPSEGSPEL PSSPASSRQP WRPPACRSPL
   481  PPGGDQGPFS SPKAWPEEWG GAGAQAEELA GYEAEDEAGM QGPGPRDGSP LLGGCSDSSG
   541  SLREEEGEDE EPLPPLRAPA GTEPEPIAML VLRGSSSRGP DAGCLTEELG EPAATERPAQ
   601  PGAANPLVVG AVALLDLSLA FLFSQLLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JPH4 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
1
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
136 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 136 nTPM
  • cerebral cortex: 127 nTPM
  • cerebellum: 125 nTPM
  • hippocampal formation: 120 nTPM
  • amygdala: 110 nTPM
  • hypothalamus: 54 nTPM

Single-cell type

  • retinal amacrine cells: 396 nCPM
  • retinal horizontal cells: 369 nCPM
  • brain inhibitory neurons: 151 nCPM
  • thyrotrophs: 131 nCPM
  • brain excitatory neurons: 131 nCPM
  • bergmann glia: 123 nCPM

Immune cell

  • myeloid DC: 3.1 nTPM
  • classical monocyte: 2.7 nTPM
  • total PBMC: 0.6 nTPM
  • intermediate monocyte: 0.5 nTPM
  • basophil: 0.3 nTPM
  • non-classical monocyte: 0.2 nTPM

Brain region

  • cerebral cortex: 349 nTPM
  • hippocampal formation: 328 nTPM
  • basal ganglia: 272 nTPM
  • amygdala: 264 nTPM
  • white matter: 202 nTPM
  • hypothalamus: 156 nTPM

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)
0.14
gnomAD pLI
1
gnomAD missense Z
2.56
DepMap mean gene effect
-0.16
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads JPH4 as an antibody target. Whether an autoantibody or antibody against JPH4 could matter depends on whether native JPH4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JPH4 is annotated at the cell surface, where native JPH4 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 JPH4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/JPH4. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...