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    GUCA1B guanylate cyclase activator 1B [ Homo sapiens (human) ]

    Gene ID: 2979, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GUCA1Bprovided by HGNC
    Official Full Name
    guanylate cyclase activator 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:4679
    See related
    Ensembl:ENSG00000112599 MIM:602275; AllianceGenome:HGNC:4679
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP48; GCAP2; GUCA2; GCAP 2; GCAP-2; GCAP-II
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 1.1), testis (RPKM 0.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42183284..42194956, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42011496..42023177, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42151022..42162694, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42133477-42134444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42146768-42147472 Neighboring gene ciliary microtubule inner protein 3 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2919 Neighboring gene guanylate cyclase activator 1A Neighboring gene CRISPRi-validated cis-regulatory element chr6.2920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42183711-42184313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42184314-42184915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24544 Neighboring gene uncharacterized LOC105375061 Neighboring gene mitochondrial ribosomal protein S10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24545 Neighboring gene transcriptional regulating factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R. Avesani A, et al. J Biol Chem, 2021 Jan-Jun. PMID 33812995, Free PMC Article
    2. Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. Kitiratschky VB, et al. Ophthalmic Genet, 2011 Sep. PMID 21405999
    3. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Sato M, et al. Graefes Arch Clin Exp Ophthalmol, 2005 Mar. PMID 15452722
    4. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. Payne AM, et al. J Med Genet, 1999 Sep. PMID 10507726, Free PMC Article
    5. Localization of guanylate cyclase-activating protein 2 in mammalian retinas. Otto-Bruc A, et al. Proc Natl Acad Sci U S A, 1997 Apr 29. PMID 9114059, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
      Title: Molecular properties of human guanylate cyclase-activating protein 2 (GCAP2) and its retinal dystrophy-associated variant G157R.
    2. GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively).
      Title: Label-free quantification of calcium-sensor targeting to photoreceptor guanylate cyclase and rhodopsin kinase by backscattering interferometry.
    3. Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface.
      Title: Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
    4. The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
      Title: Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
    5. The absence of clearly pathogenic mutations in the selected patient group suggests that the GUCA1B gene is a minor cause for retinal degenerations in Europeans or North-Americans.
      Title: Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
    6. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
      Title: A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
    7. Observational study of genotype prevalence. (HuGE Navigator)
      Title: [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa].
    8. Mutation in the GCAP 2 gene can cause one form of autosomal dominant retinal dystrophy, with variable phenotypic expression and incomplete penetrance.
      Title: Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa 48
    MedGen: C3151190 OMIM: 613827 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686E1183

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium sensitive guanylate cyclase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in body fluid secretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in receptor guanylyl cyclase signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of guanylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cone photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cone photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanylyl cyclase-activating protein 2
    Names
    guanylate cyclase activator 1B (retina)
    guanylate cyclase-activating protein, photoreceptor 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016216.2 RefSeqGene

      Range
      5000..16672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002098.6 → NP_002089.4  guanylyl cyclase-activating protein 2

      See identical proteins and their annotated locations for NP_002089.4

      Status: REVIEWED

      Source sequence(s)
      AL096814
      Consensus CDS
      CCDS4865.1
      UniProtKB/Swiss-Prot
      Q9NU15, Q9UMX6
      UniProtKB/TrEMBL
      Q7Z3V9
      Related
      ENSP00000230361.3, ENST00000230361.4
      Conserved Domains (1) summary
      COG5126
      Location:20 → 174
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      42183284..42194956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42011496..42023177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMX6.4 GenPept UniProtKB/Swiss-Prot:Q9UMX6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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