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Gene

GUCA1B

guanylate cyclase activator 1B

Summary

Cytogenetic location
6p21.1
Coordinates
Chromosome 6: 42,183,284–42,194,956 (GRCh38)
Exons
4 exons across 11.7 kb
Protein
200 amino acids
Also known as
GCAP2, RP48, GCAP-2, GCAP-II
MANE Select transcript
ENST00000230361.4NM_002098.6
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

    • Retinitis Pigmentosa

      • One of 77 genes linked to it

        A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

        • 1 GenCC submitter rates it definitive or strong

    How GUCA1B is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 6, with a bracket where GUCA1B sits. GUCA1B and 19 genes near it on chromosome 6, from 41,689,120 to 42,689,119.Chromosome 66p21.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2741.8 Mb42 Mb42.2 Mb42.4 Mb42.6 MbTFEB: 41,683,978–41,736,259, reverse strandTFEBPGC: 41,736,703–41,754,109, reverse strandPGCFRS3: 41,769,318–41,787,570, reverse strand: 41,780,349–41,790,141, forward strandPRICKLE4: 41,780,739–41,787,452, forward strandTOMM6: 41,787,620–41,872,570, forward strandTOMM6USP49: 41,789,896–41,895,395, reverse strandUSP49: 41,793,314–41,921,139, reverse strandMED20: 41,905,331–41,921,147, reverse strandMED20BYSL: 41,921,229–41,934,602, forward strandBYSLCCND3: 41,934,577–42,050,357, reverse strandCCND3TAF8: 42,050,513–42,087,461, forward strandTAF8C6orf132: 42,092,233–42,142,620, reverse strandC6orf132CIMIP3: 42,142,693–42,163,418, forward strandGUCA1ANB-GUCA1A: 42,155,406–42,180,056, forward strandGUCA1ANB-GUCA1AGUCA1A: 42,173,364–42,181,338, forward strandGUCA1AGUCA1B: 42,183,284–42,194,956, reverse strandGUCA1BMRPS10: 42,205,717–42,217,881, reverse strandMRPS10TRERF1: 42,224,931–42,452,225, reverse strandTRERF1UBR2: 42,563,969–42,693,505, forward strandUBR2Diagram of GUCA1B: 4 exons on the reverse strand of chromosome 6Exon 4: 42,183,284–42,184,942, 1,659 basesExon 3: 42,185,680–42,185,797, 118 basesExon 2: 42,188,582–42,188,731, 150 basesExon 1: 42,194,614–42,194,956, 343 bases43215′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 2.3 kb of the gene's 11.7 kb; 603 of those bases code for the protein.

    How a genome test reads GUCA1B

    1

    position in GUCA1B 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 11.7 kb of GUCA1B, introns included, not only the 2.3 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.). GUCA1B gene: guanylate cyclase activator 1B. Retrieved 17 October 2026, from https://dantelabs.com/genes/guca1b

    Vancouver

    Dante Labs. GUCA1B gene: guanylate cyclase activator 1B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/guca1b

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