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] See more...

Aliases for GUCA1B Gene

Aliases for GUCA1B Gene

  • Guanylate Cyclase Activator 1B 2 3 4 5
  • GCAP2 2 3 4
  • Guanylate Cyclase Activator 1B (Retina) 2 3
  • Guanylyl Cyclase-Activating Protein 2 3 4
  • GCAP 2 3 4
  • RP48 2 3
  • Guanylate Cyclase-Activating Protein, Photoreceptor 2 3
  • GUCA1B 5
  • GUCA2 3

External Ids for GUCA1B Gene

Previous GeneCards Identifiers for GUCA1B Gene

  • GC06M042154
  • GC06M042198
  • GC06M042199
  • GC06M042259
  • GC06M042151
  • GC06M041870
  • GC06M042186
  • GC06M042188

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 Signaling by GPCR and Metabolism of fat-soluble vitamins. 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 Summary for GUCA1B Gene

  • Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity).

Gene Wiki entry for GUCA1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GUCA1B Gene

Genomics for GUCA1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GUCA1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCA1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GUCA1B

Top Transcription factor binding sites by QIAGEN in the GUCA1B gene promoter:
  • CUTL1
  • E47
  • En-1
  • HSF2
  • ITF-2
  • p300
  • Pax-2
  • Pax-2a
  • Tal-1beta
  • ZID

Genomic Locations for GUCA1B Gene

Genomic Locations for GUCA1B Gene
chr6:42,183,284-42,194,956
(GRCh38/hg38)
Size:
11,673 bases
Orientation:
Minus strand
chr6:42,151,022-42,162,694
(GRCh37/hg19)
Size:
11,673 bases
Orientation:
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:
    Q9UMX6-GUC1B_HUMAN
    Recommended name:
    Guanylyl cyclase-activating protein 2
    Protein Accession:
    Q9UMX6
    Secondary Accessions:
    • Q9NU15

    Protein attributes for GUCA1B Gene

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

neXtProt entry for GUCA1B Gene

Post-translational modifications for GUCA1B Gene

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

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

Protein Domains for GUCA1B Gene

Suggested Antigen Peptide Sequences for GUCA1B Gene

GenScript: Design optimal peptide antigens:
  • GUCA1B protein (A4FUA1_HUMAN)
  • Guanylate cyclase activator 1B (GUC1B_HUMAN)
genes like me logo Genes that share domains with GUCA1B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GUCA1B Gene

Function for GUCA1B Gene

Molecular function for GUCA1B Gene

UniProtKB/Swiss-Prot Function:
Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity). This Ca(2+)-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor response and recovery of response in bright light (By similarity).
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)

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCA1B

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 projection, cilium, photoreceptor outer segment. Cell membrane. Lipid-anchor. Note=Subcellular location is not affected by light or dark conditions. {ECO:0000250 UniProtKB:Q8VBV8}.

Subcellular locations from

COMPARTMENTS
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 4
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0042995 cell projection IEA --
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

1 KEGG pathway for GUCA1B Gene
1 Qiagen pathway for GUCA1B Gene
  • Visual Cycle in Retinal Rods

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 Nutra 6556

(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 :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCA1B

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

No ASD Table

Relevant External Links for GUCA1B Gene

GeneLoc Exon Structure for
GUCA1B

Expression for GUCA1B Gene

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



Protein tissue co-expression partners for GUCA1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GUCA1B

SOURCE GeneReport for Unigene cluster for GUCA1B Gene:

Hs.446529

mRNA Expression by UniProt/SwissProt for GUCA1B Gene:

Q9UMX6-GUC1B_HUMAN
Tissue specificity: Retina. Cones and rod.

Evidence on tissue expression from TISSUES for GUCA1B Gene

  • Eye(3.9)
  • Nervous system(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia GUCA1B 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GUCA1B 30 31
  • 87.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Guca1b 30
  • 87.17 (n)
Cow
(Bos Taurus)
Mammalia GUCA1B 30 31
  • 86.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Guca1b 30 17 31
  • 86.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GUCA1B 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GUCA1B 30 31
  • 73.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GUCA1B 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489509 30
  • 72.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii guca1b 30 31
  • 71.57 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.795 31
  • 30 (a)
OneToMany
Species where no ortholog for GUCA1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for GUCA1B (if available)
TreeFam:
Gene Tree for GUCA1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUCA1B: view image

Paralogs for GUCA1B Gene

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

Variants for GUCA1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GUCA1B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709050 Benign: not provided 42,185,756(-) T/C SYNONYMOUS_VARIANT
720108 Likely Benign: not provided 42,185,720(-) G/C SYNONYMOUS_VARIANT
731314 Likely Benign: not provided 42,188,621(-) A/G SYNONYMOUS_VARIANT
839648 Uncertain Significance: not provided 42,194,766(-) C/T MISSENSE_VARIANT
839767 Uncertain Significance: not provided 42,184,835(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GUCA1B Gene

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)
GUCA1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCA1B

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

Disorders for GUCA1B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
retinitis pigmentosa
  • retinitis pigmentosa 1
cone dystrophy 3
  • cod3
leber congenital amaurosis 12
  • lca12
cone dystrophy
  • cone dystrophy 3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GUC1B_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  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 23 41
  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 23
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for GUCA1B Gene

Sources for GUCA1B Gene