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Gene

NR1H4

nuclear receptor subfamily 1 group H member 4

Summary

Cytogenetic location
12q23.1
Coordinates
Chromosome 12: 100,473,866–100,564,414 (GRCh38)
Exons
11 exons across 90.5 kb
Protein
476 amino acids
Inheritance
Autosomal recessive
Also known as
FXR, RIP14, HRR1, HRR-1
MANE Select transcript
ENST00000392986.8NM_001206979.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Familial Intrahepatic Cholestasis

    • Autosomal recessive

      An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NR1H4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where NR1H4 sits. NR1H4 and 7 genes near it on chromosome 12, from 100,019,140 to 101,019,139.Chromosome 1212q23.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33100.2 Mb100.4 Mb100.6 Mb100.8 Mb101 MbBLTP3B: 100,028,455–100,142,889, reverse strandBLTP3BACTR6: 100,199,122–100,241,865, forward strandACTR6DEPDC4: 100,203,669–100,267,094, reverse strandDEPDC4SCYL2: 100,266,830–100,341,993, forward strandSCYL2SLC17A8: 100,356,842–100,422,055, forward strandSLC17A8NR1H4: 100,473,866–100,564,414, forward strandNR1H4GAS2L3: 100,573,643–100,628,288, forward strandGAS2L3ANO4: 100,717,221–101,128,648, forward strandANO4Diagram of NR1H4: 11 exons on the forward strand of chromosome 12Exon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 1: 100,473,866–100,474,059, 194 basesExon 2: 100,492,503–100,492,637, 135 basesExon 3: 100,493,270–100,493,402, 133 basesExon 4: 100,510,778–100,511,143, 366 basesExon 5: 100,532,458–100,532,610, 153 basesExon 6: 100,534,890–100,535,023, 134 basesExon 7: 100,536,512–100,536,610, 99 basesExon 8: 100,536,948–100,537,047, 100 basesExon 9: 100,540,672–100,540,818, 147 basesExon 10: 100,561,885–100,561,998, 114 basesExon 11: 100,563,251–100,564,414, 1,164 bases1115′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 2.7 kb of the gene's 90.5 kb; 1,431 of those bases code for the protein.

How a genome test reads NR1H4

7

positions in NR1H4 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 90.5 kb of NR1H4, introns included, not only the 2.7 kb of exons.

Genes linked to the same conditions

Traits linked to NR1H4

The Human Phenotype Ontology lists these as features of the rare conditions NR1H4 can cause. Each trait's page lists the other genes linked to it.

External links

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.). NR1H4 gene: nuclear receptor subfamily 1 group H member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/nr1h4

Vancouver

Dante Labs. NR1H4 gene: nuclear receptor subfamily 1 group H member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nr1h4

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