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

Gene ID: 2979, updated on 3-Feb-2021

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
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
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
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Genomic context

See GUCA1B in Genome Data Viewer
Location:
6p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (42183284..42194956, complement)
105.20201022 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 GUCA1A neighbor Neighboring gene guanylate cyclase activator 1A Neighboring gene CRISPRi-validated cis-regulatory element chr6.2919 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2920

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

Homology

Clone Names

  • DKFZp686E1183

Gene Ontology Provided by GOA

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

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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_016216.1 RefSeqGene

    Range
    5001..16673
    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
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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