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Gene

RNPC3

RNA binding region (RNP1, RRM) containing 3

Summary

Cytogenetic location
1p21.1
Coordinates
Chromosome 1: 103,525,699–103,555,239 (GRCh38)
Exons
15 exons across 29.5 kb
Protein
517 amino acids
Also known as
KIAA1839, FLJ20008, RBM40, SNRNP65
MANE Select transcript
ENST00000423855.7NM_017619.4
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 reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 3 GenCC submitters rate it definitive or strong

  • Non-Acquired Combined Pituitary Hormone Deficiency

    • Combined pituitary hormone deficiency, genetic form

      Inherited deficiency of several pituitary hormones, including PROP1, POU1F1, HESX1 and related causes.

      • 3 GenCC submitters rate it definitive or strong

How RNPC3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where RNPC3 sits. RNPC3 and 6 genes near it on chromosome 1, from 103,040,469 to 104,040,468.Chromosome 11p21.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44103.2 Mb103.4 Mb103.6 Mb103.8 Mb104 MbCOL11A1: 102,876,467–103,108,872, reverse strandCOL11A1RNPC3: 103,525,699–103,555,239, forward strandRNPC3AMY2B: 103,553,815–103,579,534, forward strandAMY2BAMY2A: 103,617,427–103,625,780, forward strandAMY2AAMY1A: 103,650,592–103,664,629, forward strandAMY1AAMY1B: 103,687,415–103,701,064, reverse strandAMY1BAMY1C: 103,745,126–103,758,726, forward strandAMY1CDiagram of RNPC3: 15 exons on the forward strand of chromosome 1Exon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 103,525,699–103,526,262, 564 basesExon 2: 103,527,695–103,527,742, 48 basesExon 3: 103,533,739–103,533,857, 119 basesExon 4: 103,534,774–103,534,857, 84 basesExon 5: 103,535,330–103,535,441, 112 basesExon 6: 103,536,126–103,536,194, 69 basesExon 7: 103,537,342–103,537,484, 143 basesExon 8: 103,541,350–103,541,475, 126 basesExon 9: 103,543,296–103,543,447, 152 basesExon 10: 103,544,941–103,545,102, 162 basesExon 11: 103,546,248–103,546,342, 95 basesExon 12: 103,546,977–103,547,035, 59 basesExon 13: 103,550,941–103,551,073, 133 basesExon 14: 103,551,721–103,551,792, 72 basesExon 15: 103,555,034–103,555,239, 206 bases1234567891011121314155′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 2.1 kb of the gene's 29.5 kb; 1,554 of those bases code for the protein.

How a genome test reads RNPC3

3

positions in RNPC3 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 29.5 kb of RNPC3, introns included, not only the 2.1 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.). RNPC3 gene: RNA binding region (RNP1, RRM) containing 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/rnpc3

Vancouver

Dante Labs. RNPC3 gene: RNA binding region (RNP1, RRM) containing 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rnpc3

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