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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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).
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.
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.
Observational study of genotype prevalence. (HuGE Navigator)
Title: [Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa].
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D11S3114 (e-PCR)
- UniSTS:152207

D6S400 (e-PCR)
- UniSTS:13499

SHGC-36091 (e-PCR)
- UniSTS:23245

NoName (e-PCR)
- UniSTS:480744

RH78652 (e-PCR)
- UniSTS:72687

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

NG_016216.2 RefSeqGene

Range

5000..16672

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]