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Gene

AVPR2

arginine vasopressin receptor 2

Summary

Cytogenetic location
Xq28
Coordinates
Chromosome X: 153,904,673–153,907,166 (GRCh38)
Exons
4 exons across 2.5 kb
Protein
371 amino acids
Inheritance
X-linked recessive
Also known as
V2R
Previous symbols
DIR3, DIR
MANE Select transcript
ENST00000646375.2NM_000054.7
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Nephrogenic Diabetes Insipidus

    • Nephrogenic Syndrome of Inappropriate AntidiuresisX-linked recessive

      An X-linked condition caused by activating AVPR2 variants, in which the kidneys retain too much water and blood sodium levels fall.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides fluid restriction and other measures to manage low sodium.

    • An inability of the kidneys to concentrate urine, most often X-linked (AVPR2) and less often autosomal (AQP2), presenting with excessive thirst, urination and dehydration from infancy.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis helps prevent dangerous dehydration and high sodium in infancy, and treatment with diet, thiazides or anti-inflammatory drugs can reduce urine output.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How AVPR2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where AVPR2 sits. AVPR2 and 35 genes near it on chromosome X, from 153,405,920 to 154,405,919.Chromosome XXq28p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28153.6 Mb153.8 Mb154 Mb154.2 Mb154.4 MbZFP92: 153,411,434–153,426,481, forward strandZFP92TREX2: 153,444,473–153,470,592, reverse strandTREX2HAUS7: 153,447,655–153,495,529, reverse strandHAUS7BGN: 153,488,654–153,510,711, forward strandBGNATP2B3: 153,517,620–153,582,939, forward strandATP2B3CCNQ: 153,587,925–153,600,045, reverse strandCCNQDUSP9: 153,642,397–153,651,326, forward strandDUSP9PNCK: 153,669,730–153,689,033, reverse strandPNCKSLC6A8: 153,687,914–153,696,591, forward strandSLC6A8BCAP31: 153,698,006–153,725,957, reverse strandBCAP31ABCD1: 153,724,495–153,744,755, forward strandABCD1PLXNB3: 153,764,179–153,779,346, forward strandSRPK3: 153,781,001–153,785,768, forward strandSRPK3IDH3G: 153,785,735–153,794,535, reverse strandIDH3GSSR4: 153,793,516–153,798,510, forward strandSSR4PDZD4: 153,802,161–153,830,935, reverse strandPDZD4L1CAM: 153,861,511–153,886,204, reverse strandL1CAM: 153,872,221–153,909,223, reverse strandAVPR2: 153,904,673–153,907,166, forward strandAVPR2ARHGAP4: 153,907,367–153,934,999, reverse strandARHGAP4NAA10: 153,928,799–153,935,083, reverse strandNAA10RENBP: 153,935,269–153,944,688, reverse strandHCFC1: 153,946,434–153,972,427, reverse strandHCFC1TMEM187: 153,972,290–153,983,194, forward strandIRAK1: 154,010,501–154,020,650, reverse strandIRAK1MECP2: 154,021,573–154,137,103, reverse strandMECP2OPN1LW: 154,144,243–154,159,032, forward strandOPN1LWOPN1MW: 154,182,596–154,196,861, forward strandOPN1MWOPN1MW2: 154,219,756–154,233,286, forward strandOPN1MW2OPN1MW3: 154,257,582–154,271,090, forward strandOPN1MW3TEX28: 154,271,265–154,295,853, reverse strandTEX28TKTL1: 154,295,795–154,330,350, forward strandTKTL1FLNA: 154,348,524–154,374,643, reverse strandFLNAEMD: 154,379,205–154,381,574, forward strandEMDRPL10: 154,389,955–154,409,168, forward strandRPL10DNASE1L1: 154,401,236–154,412,119, reverse strandDNASE1L1Diagram of AVPR2: 4 exons on the forward strand of chromosome XExon 3: 48 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 1: 153,904,673–153,904,771, 99 basesExon 2: 153,904,974–153,905,170, 197 basesExon 3: 153,905,532–153,906,416, 885 basesExon 4: 153,906,523–153,907,166, 644 bases12345′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 2.5 kb; 1,116 of those bases code for the protein.

How a genome test reads AVPR2

55

positions in AVPR2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 2.5 kb of AVPR2, introns included, not only the 1.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AVPR2 gene: arginine vasopressin receptor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/avpr2

Vancouver

Dante Labs. AVPR2 gene: arginine vasopressin receptor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/avpr2

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