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Aliases for GUCA1B Gene

Aliases for GUCA1B Gene

  • Guanylate Cyclase Activator 1B 2 3 4 5
  • Guanylate Cyclase Activator 1B (Retina) 2 3
  • GCAP 2 3 4
  • GCAP2 3 4
  • Guanylate Cyclase-Activating Protein, Photoreceptor 2 3
  • Guanylyl Cyclase-Activating Protein 2 3
  • GUCA2 3
  • RP48 3

External Ids for GUCA1B Gene

Previous GeneCards Identifiers for GUCA1B Gene

  • GC06M042154
  • GC06M042198
  • GC06M042199
  • GC06M042259
  • GC06M041870

Summaries for GUCA1B Gene

Entrez Gene Summary for GUCA1B Gene

  • The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]

GeneCards Summary for GUCA1B Gene

GUCA1B (Guanylate Cyclase Activator 1B) is a Protein Coding gene. Diseases associated with GUCA1B include Retinitis Pigmentosa 48 and Retinitis Pigmentosa. Among its related pathways are Phototransduction and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is GUCA1A.

UniProtKB/Swiss-Prot for GUCA1B Gene

  • Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Gene Wiki entry for GUCA1B Gene

Additional gene information for GUCA1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCA1B Gene

Genomics for GUCA1B Gene

GeneHancer (GH) Regulatory Elements for GUCA1B Gene

Promoters and enhancers for GUCA1B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I042204 Enhancer 0.9 ENCODE 550.8 +1.7 1738 1.6 FOXA2 MLX ARID4B SIN3A DMAP1 ETS1 YY1 SLC30A9 ATF7 RXRA GUCA1B MRPS10 GUCA1A ENSG00000214732
GH06I042194 Promoter 0.6 EPDnew 550.4 +11.6 11575 0.1 ZNF600 GUCA1B ENSG00000214732
GH06I042135 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 15.1 +67.1 67130 8.8 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF143 C6orf132 GUCA1B RRP36 ENSG00000261068 GC06P042354
GH06I042312 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10 -108.8 -108805 6.5 ATF1 SIN3A ZNF121 GLIS2 ATF7 FOS RUNX3 CAVIN1 JUNB REST GUCA1B BYSL TRERF1 LOC105375061 GC06M042412
GH06I042223 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.4 -20.3 -20251 5.9 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A FEZF1 ZBTB7B IRF4 FOS PIR36094 MRPS10 GUCA1B GUCA1A ENSG00000214732 C6orf132 TRERF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GUCA1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUCA1B gene promoter:

Genomic Locations for GUCA1B Gene

Genomic Locations for GUCA1B Gene
23,268 bases
Minus strand

Genomic View for GUCA1B Gene

Genes around GUCA1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCA1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCA1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCA1B Gene

Proteins for GUCA1B Gene

  • Protein details for GUCA1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Guanylyl cyclase-activating protein 2
    Protein Accession:
    Secondary Accessions:
    • Q9NU15

    Protein attributes for GUCA1B Gene

    200 amino acids
    Molecular mass:
    23420 Da
    Quaternary structure:
    No Data Available
    • Binds three calcium ions.

neXtProt entry for GUCA1B Gene

Post-translational modifications for GUCA1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GUCA1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GUCA1B Gene

Domains & Families for GUCA1B Gene

Gene Families for GUCA1B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GUCA1B Gene

Suggested Antigen Peptide Sequences for GUCA1B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GUCA1B: view

No data available for UniProtKB/Swiss-Prot for GUCA1B Gene

Function for GUCA1B Gene

Molecular function for GUCA1B Gene

GENATLAS Biochemistry:
guanylate cyclase-activating protein,only expressed in the retina,calmodulin family,regulating phosphoreceptor membrane guanylyl cyclase RETGC2 in a Ca2+ sensitive manner (but less effective than GCAP1 for stimulating RETGC1)
UniProtKB/Swiss-Prot Function:
Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Phenotypes From GWAS Catalog for GUCA1B Gene

Gene Ontology (GO) - Molecular Function for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008048 calcium sensitive guanylate cyclase activator activity IEA --
GO:0030249 guanylate cyclase regulator activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GUCA1B: view
genes like me logo Genes that share phenotypes with GUCA1B: view

Human Phenotype Ontology for GUCA1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCA1B Gene

MGI Knock Outs for GUCA1B:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GUCA1B Gene

Localization for GUCA1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCA1B Gene

Cell membrane. Note=Membranes of outer segment.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUCA1B gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GUCA1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GUCA1B Gene

Pathways & Interactions for GUCA1B Gene

genes like me logo Genes that share pathways with GUCA1B: view

Pathways by source for GUCA1B Gene

Gene Ontology (GO) - Biological Process for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007168 receptor guanylyl cyclase signaling pathway TAS 1327879
GO:0007267 cell-cell signaling TAS 1409606
GO:0007589 body fluid secretion TAS 1327879
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
genes like me logo Genes that share ontologies with GUCA1B: view

No data available for SIGNOR curated interactions for GUCA1B Gene

Drugs & Compounds for GUCA1B Gene

(3) Drugs for GUCA1B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for GUCA1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GUCA1B: view

Transcripts for GUCA1B Gene

mRNA/cDNA for GUCA1B Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(36) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GUCA1B Gene

Guanylate cyclase activator 1B (retina):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCA1B Gene

No ASD Table

Relevant External Links for GUCA1B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GUCA1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GUCA1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GUCA1B Gene

This gene is overexpressed in Retina (36.1) and Stomach (32.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GUCA1B Gene

Protein tissue co-expression partners for GUCA1B Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCA1B Gene:


SOURCE GeneReport for Unigene cluster for GUCA1B Gene:


mRNA Expression by UniProt/SwissProt for GUCA1B Gene:

Tissue specificity: Retina. Cones and rod.

Evidence on tissue expression from TISSUES for GUCA1B Gene

  • Eye(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCA1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with GUCA1B: view

No data available for mRNA differential expression in normal tissues for GUCA1B Gene

Orthologs for GUCA1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for GUCA1B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GUCA1B 33 34
  • 99.67 (n)
(Canis familiaris)
Mammalia GUCA1B 33 34
  • 87.83 (n)
(Rattus norvegicus)
Mammalia Guca1b 33
  • 87.17 (n)
(Bos Taurus)
Mammalia GUCA1B 33 34
  • 86.83 (n)
(Mus musculus)
Mammalia Guca1b 33 16 34
  • 86.17 (n)
(Ornithorhynchus anatinus)
Mammalia GUCA1B 34
  • 71 (a)
(Gallus gallus)
Aves GUCA1B 33 34
  • 73.4 (n)
(Anolis carolinensis)
Reptilia GUCA1B 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489509 33
  • 72.25 (n)
(Danio rerio)
Actinopterygii guca1b 33 34
  • 71.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.795 34
  • 30 (a)
Species where no ortholog for GUCA1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GUCA1B Gene

Gene Tree for GUCA1B (if available)
Gene Tree for GUCA1B (if available)

Paralogs for GUCA1B Gene

Variants for GUCA1B Gene

Sequence variations from dbSNP and Humsavar for GUCA1B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs113734032 likely-benign, Cone/cone-rod dystrophy, Retinitis Pigmentosa, Dominant 42,184,335(-) C/T 3_prime_UTR_variant
rs114197333 likely-benign, Retinitis Pigmentosa, Dominant 42,183,818(-) G/A 3_prime_UTR_variant
rs114573886 likely-benign, Cone/cone-rod dystrophy, Retinitis Pigmentosa, Dominant 42,184,386(-) C/T 3_prime_UTR_variant
rs114773899 likely-benign, Retinitis Pigmentosa, Dominant 42,185,672(-) C/T intron_variant
rs114824449 likely-benign, Retinitis Pigmentosa, Dominant, Cone/cone-rod dystrophy 42,183,887(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for GUCA1B Gene

Variant ID Type Subtype PubMed ID
esv3608795 CNV gain 21293372
nsv1109769 CNV deletion 24896259
nsv510026 OTHER sequence alteration 20534489
nsv830649 CNV loss 17160897

Variation tolerance for GUCA1B Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUCA1B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCA1B Gene

Disorders for GUCA1B Gene

MalaCards: The human disease database

(9) MalaCards diseases for GUCA1B Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
retinitis pigmentosa
  • rp
hereditary choroidal atrophy
  • hereditary choroidal dystrophy
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
leber congenital amaurosis 1
  • lca1
- elite association - COSMIC cancer census association via MalaCards


  • Retinitis pigmentosa 48 (RP48) [MIM:613827]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15452722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUCA1B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GUCA1B: view

No data available for Genatlas for GUCA1B Gene

Publications for GUCA1B Gene

  1. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. (PMID: 15452722) Sato M … Ohguro H (Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2005) 3 4 22 44 58
  2. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). (PMID: 9119368) Surguchov A … Baehr W (Genomics 1997) 2 3 4 22 58
  3. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (PMID: 15505030) Nishiguchi KM … Baehr W (Investigative ophthalmology & visual science 2004) 3 22 44 58
  4. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. (PMID: 10507726) Payne AM … Bhattacharya SS (Journal of medical genetics 1999) 3 4 22 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for GUCA1B Gene

Sources for GUCA1B Gene

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