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

    Gene ID: 2979, updated on 1-Mar-2024

    Summary

    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
    NEW
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    Genomic context

    See GUCA1B in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002098.6NP_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:20174
      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)