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

Gene ID: 2979, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42183284..42194956, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42011496..42023177, complement)
RS_2024_09 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 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 signal transduction 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)

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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_002098.6NP_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_2024_08

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)