Seroatlas · Human Serome Atlas

KIRREL3

Kin of IRRE-like protein 3

Also known as: KIAA1867, KIRR3_HUMAN, KIRRE, NEPH2

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

Protein identityUniProt · HPA

UniProt accession
Q8IZU9
Gene
KIRREL3
Ensembl
ENSG00000149571
Chromosome
11
Canonical length
778 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

778 residues, UniProt reviewed canonical sequence.

>Q8IZU9|KIRREL3
     1  MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF SQQPQDQVVV
    61  SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL VVGNHLSGEH HLKILRAELQ
   121  DDAVYECQAI QAAIRSRPAR LTVLVPPDDP VILGGPVISL RAGDPLNLTC HADNAKPAAS
   181  IIWLRKGEVI NGATYSKTLL RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET
   241  SVTIDIQHPP LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR
   301  TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS DAIFSCAWTG
   361  NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA VVPRVGAGER EVTLTVNGPP
   421  IISSTQTQHA LHGEKGQIKC FIRSTPPPDR IAWSWKENVL ESGTSGRYTV ETISTEEGVI
   481  STLTISNIVR ADFQTIYNCT AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV
   541  AVGAGVAFLV LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ
   601  LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP TISLSSCQPD
   661  LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG SSSIELCERE FQRGSLSDSS
   721  SFLDTQCDSS VSSSGKQDGY VQFDKASKAS ASSSHHSQSS SQNSDPSRPL QRRMQTHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIRREL3 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)
0.45
Highest tissue expression
27 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 27 nTPM
  • cerebral cortex: 18 nTPM
  • hippocampal formation: 13 nTPM
  • cerebellum: 12 nTPM
  • spinal cord: 12 nTPM
  • amygdala: 12 nTPM

Single-cell type

  • oligodendrocytes: 989 nCPM
  • brain inhibitory neurons: 767 nCPM
  • brain excitatory neurons: 589 nCPM
  • retinal amacrine cells: 551 nCPM
  • late spermatids: 413 nCPM
  • retinal bipolar cells: 347 nCPM

Immune cell

  • plasmacytoid DC: 8.3 nTPM
  • basophil: 0.6 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • basal ganglia: 53 nTPM
  • amygdala: 44 nTPM
  • white matter: 44 nTPM
  • cerebral cortex: 42 nTPM
  • thalamus: 41 nTPM
  • midbrain: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIRREL3.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 184 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Intellectual disability, autosomal dominant 4

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)
0.32
gnomAD pLI
0.97
gnomAD missense Z
2.35
DepMap mean gene effect
0.15
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIRREL3 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 KIRREL3 as an antibody target. Whether an autoantibody or antibody against KIRREL3 could matter depends on whether native KIRREL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIRREL3 is annotated at the cell surface, where native KIRREL3 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 KIRREL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KIRREL3. 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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