Seroatlas · Human Serome Atlas

INVS

Inversin

Also known as: INVS_HUMAN, NPHP2

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

Protein identityUniProt · HPA

UniProt accession
Q9Y283
Gene
INVS
Ensembl
ENSG00000119509
Chromosome
9
Canonical length
1065 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

1065 residues, UniProt reviewed canonical sequence.

>Q9Y283|INVS
     1  MNKSENLLFA GSSLASQVHA AAVNGDKGAL QRLIVGNSAL KDKEDQFGRT PLMYCVLADR
    61  LDCADALLKA GADVNKTDHS QRTALHLAAQ KGNYRFMKLL LTRRANWMQK DLEEMTPLHL
   121  TTRHRSPKCL ALLLKFMAPG EVDTQDKNKQ TALHWSAYYN NPEHVKLLIK HDSNIGIPDV
   181  EGKIPLHWAA NHKDPSAVHT VRCILDAAPT ESLLNWQDYE GRTPLHFAVA DGNVTVVDVL
   241  TSYESCNITS YDNLFRTPLH WAALLGHAQI VHLLLERNKS GTIPSDSQGA TPLHYAAQSN
   301  FAETVKVFLK HPSVKDDSDL EGRTSFMWAA GKGSDDVLRT MLSLKSDIDI NMADKYGGTA
   361  LHAAALSGHV STVKLLLENN AQVDATDVMK HTPLFRACEM GHKDVIQTLI KGGARVDLVD
   421  QDGHSLLHWA ALGGNADVCQ ILIENKINPN VQDYAGRTPL QCAAYGGYIN CMAVLMENNA
   481  DPNIQDKEGR TALHWSCNNG YLDAIKLLLD FAAFPNQMEN NEERYTPLDY ALLGERHEVI
   541  QFMLEHGALS IAAIQDIAAF KIQAVYKGYK VRKAFRDRKN LLMKHEQLRK DAAAKKREEE
   601  NKRKEAEQQK GRRSPDSCRP QALPCLPSTQ DVPSRQSRAP SKQPPAGNVA QGPEPRDSRG
   661  SPGGSLGGAL QKEQHVSSDL QGTNSRRPNE TAREHSKGQS ACVHFRPNEG SDGSRHPGVP
   721  SVEKSRGETA GDERCAKGKG FVKQPSCIRV AGPDEKGEDS RRAAASLPPH DSHWKPSRRH
   781  DTEPKAKCAP QKRRTQELRG GRCSPAGSSR PGSARGEAVH AGQNPPHHRT PRNKVTQAKL
   841  TGGLYSHLPQ STEELRSGAR RLETSTLSED FQVSKETDPA PGPLSGQSVN IDLLPVELRL
   901  QIIQRERRRK ELFRKKNKAA AVIQRAWRSY QLRKHLSHLR HMKQLGAGDV DRWRQESTAL
   961  LLQVWRKELE LKFPQTTAVS KAPKSPSKGT SGTKSTKHSV LKQIYGCSHE GKIHHPTRSV
  1021  KASSVLRLNS VSNLQCIHLL ENSGRSKNFS YNLQSATQPK NKTKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INVS 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.43
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • retina: 11 nTPM
  • parathyroid gland: 9.1 nTPM
  • liver: 8.8 nTPM
  • ovary: 8.6 nTPM
  • kidney: 8.2 nTPM
  • thymus: 7.2 nTPM

Single-cell type

  • sertoli cells: 351 nCPM
  • myonuclei: 337 nCPM
  • gonadotrophs: 333 nCPM
  • lactotrophs: 324 nCPM
  • choroid plexus epithelial cells: 304 nCPM
  • adrenal cortex cells: 287 nCPM

Immune cell

  • memory B-cell: 2.6 nTPM
  • naive B-cell: 2.5 nTPM
  • NK-cell: 2.5 nTPM
  • naive CD4 T-cell: 2.4 nTPM
  • naive CD8 T-cell: 2.4 nTPM
  • gdT-cell: 2.2 nTPM

Brain region

  • white matter: 31 nTPM
  • basal ganglia: 23 nTPM
  • medulla oblongata: 23 nTPM
  • choroid plexus: 23 nTPM
  • cerebellum: 22 nTPM
  • pons: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INVS.

Disease | AllUniProt

Conditions INVS is implicated in, by any mechanism.

Disease | GeneticClinVar

125 pathogenic / likely-pathogenic of 1,138 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)
0.92
gnomAD pLI
0
gnomAD missense Z
1.07
DepMap mean gene effect
0.12
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 INVS 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 INVS as an antibody target. Whether an autoantibody or antibody against INVS could matter depends on whether native INVS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INVS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

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

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