GUCY2D guanylate cyclase 2D, retinal [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUCY2Dprovided by HGNC
Official Full Name: guanylate cyclase 2D, retinalprovided by HGNC
Primary source: HGNC:HGNC:4689
See related: Ensembl:ENSG00000132518 MIM:600179; AllianceGenome:HGNC:4689
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: LCA; CACD; CG-E; CYGD; LCA1; RCD2; CACD1; CORD5; CORD6; GUC2D; ROSGC; retGC; CSNB1I; GUC1A4; RETGC-1; ROS-GC1
Summary: This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8002615..8020342)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7908012..7925755)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7905933..7923660)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
Title: A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Title: Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
Title: Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Title: The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
Title: Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Title: Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Title: Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.
Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Title: Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
Title: Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function.
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.
Title: GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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
Choroidal dystrophy, central areolar, 1 MedGen: C4551884 OMIM: 215500 GeneReviews: Not available	Compare labs
Cone-rod dystrophy 6 MedGen: C1866293 OMIM: 601777 GeneReviews: Not available	Compare labs
Leber congenital amaurosis 1 MedGen: C2931258 OMIM: 204000 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs
Night blindness, congenital stationary, type1i MedGen: C5231408 OMIM: 618555 GeneReviews: Not available	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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 binding causes increased expression of guanylate cyclase 2D (GUCY2D) in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31356 (e-PCR)
- UniSTS:76118

WI-14061 (e-PCR)
- UniSTS:34147

G60239 (e-PCR)
- UniSTS:137347

SHGC-12631 (e-PCR)
- UniSTS:72323

G60247 (e-PCR)
- UniSTS:137354

D17S938 (e-PCR), detects polymorphism
- UniSTS:32446

GDB:385404 (e-PCR)
- UniSTS:157130

D17S796 (e-PCR)
- UniSTS:6355

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables adenylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanylate cyclase activity	TAS Traceable Author Statement more info
enables peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of opsin-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear outer membrane	TAS Traceable Author Statement more info	PubMed
located_in photoreceptor disc membrane	TAS Traceable Author Statement more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: retinal guanylyl cyclase 1

Names: ROS-GC; central areolar choroidal dystrophy; cone rod dystrophy 6; guanylate cyclase 2D, membrane (retina-specific); retinal guanylate cyclase 1; rod outer segment membrane guanylate cyclase

NP_000171.1

EC 4.6.1.2

XP_011522118.1

EC 4.6.1.2

XP_054171864.1

EC 4.6.1.2

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_009092.1 RefSeqGene

Range

4946..22673

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000180.4 → NP_000171.1 retinal guanylyl cyclase 1 precursor

See identical proteins and their annotated locations for NP_000171.1

Status: REVIEWED

Source sequence(s)

AC104581

Consensus CDS

CCDS11127.1

UniProtKB/Swiss-Prot

Q02846, Q6LEA7

Related

ENSP00000254854.4, ENST00000254854.5

Conserved Domains (4) summary

smart00044
Location:846 → 1036

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14043
Location:536 → 811

PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D

pfam07701
Location:820 → 865

HNOBA; Heme NO binding associated

cd06371
Location:55 → 431

PBP1_sensory_GC_DEF-like; ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

8002615..8020342

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523816.2 → XP_011522118.1 retinal guanylyl cyclase 1 isoform X1

See identical proteins and their annotated locations for XP_011522118.1

UniProtKB/Swiss-Prot

Q02846, Q6LEA7

Conserved Domains (4) summary

smart00044
Location:846 → 1036

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14043
Location:536 → 811

PK_GC-2D; Pseudokinase domain of the membrane Guanylate Cyclase receptor, GC-2D

pfam07701
Location:820 → 865

HNOBA; Heme NO binding associated

cd06371
Location:55 → 431

PBP1_sensory_GC_DEF-like; ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues