RARG retinoic acid receptor gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: RARGprovided by HGNC
Official Full Name: retinoic acid receptor gammaprovided by HGNC
Primary source: HGNC:HGNC:9866
See related: Ensembl:ENSG00000172819 MIM:180190; AllianceGenome:HGNC:9866
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: RARC; NR1B3; RARgamma
Summary: This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Broad expression in skin (RPKM 47.1), esophagus (RPKM 32.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53210569..53232209, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53176168..53197803, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53604353..53625993, complement)

Chromosome 12 - NC_000012.12 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 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?

Histone lactylation inhibits RARgamma expression in macrophages to promote colorectal tumorigenesis through activation of TRAF6-IL-6-STAT3 signaling.
Title: Histone lactylation inhibits RARγ expression in macrophages to promote colorectal tumorigenesis through activation of TRAF6-IL-6-STAT3 signaling.
The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.
Title: The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.
RARgamma promotes the invasion and metastasis of thyroid carcinoma by activating the JAK1-STAT3-CD24/MMPs axis.
Title: RARγ promotes the invasion and metastasis of thyroid carcinoma by activating the JAK1-STAT3-CD24/MMPs axis.
Retinoic acid receptor gamma is required for proliferation of pancreatic cancer cells.
Title: Retinoic acid receptor gamma is required for proliferation of pancreatic cancer cells.
Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.
Title: Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.
Temporal activation of LRH-1 and RAR-gamma in human pluripotent stem cells induces a functional naive-like state.
Title: Temporal activation of LRH-1 and RAR-γ in human pluripotent stem cells induces a functional naïve-like state.
Variation in RARG increases susceptibility to doxorubicin-induced cardiotoxicity in patient specific induced pluripotent stem cell-derived cardiomyocytes.
Title: Variation in RARG increases susceptibility to doxorubicin-induced cardiotoxicity in patient specific induced pluripotent stem cell-derived cardiomyocytes.
A novel CPSF6-RARG fusion transcript in acute myeloid leukemia.
Title: Identification of a novel CPSF6-RARG fusion transcript in acute myeloid leukemia resembling acute promyelocytic leukemia.
RARA and RARG gene downregulation associated with EZH2 mutation in acute promyelocytic-like morphology leukemia
Title: RARA and RARG gene downregulation associated with EZH2 mutation in acute promyelocytic-like morphology leukemia.
In prostate cancer cells, miR-96 directly regulated RARgamma expression and function. miR-96 targets a RARgamma network to govern AR signaling, PCa progression and disease outcome.
Title: The miR-96 and RARγ signaling axis governs androgen signaling and prostate cancer progression.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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

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
Nef	nef	HIV-1 Nef induces loss of F-actin assembly and inhibits retinoid receptor-mediated transcription	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

GDB:677651 (e-PCR)
- UniSTS:32015

NoName (e-PCR)
- UniSTS:483356

WI-18980 (e-PCR)
- UniSTS:71750

AFM310yh9 (e-PCR)
- UniSTS:35171

GDB:376723 (e-PCR)
- UniSTS:157062

RARG_247 (e-PCR)
- UniSTS:468118

Rarg (e-PCR), detects polymorphism
- UniSTS:186533

GDB:384836 (e-PCR)
- UniSTS:157104

STS-M38258 (e-PCR)
- UniSTS:1997

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear retinoid X receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Harderian gland development	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in embryonic camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in embryonic eye morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic hindlimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in face development	IEA Inferred from Electronic Annotation more info
involved_in glandular epithelial cell development	IEA Inferred from Electronic Annotation more info
involved_in growth plate cartilage chondrocyte growth	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of programmed cell death	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in prostate gland epithelium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell size	TAS Traceable Author Statement more info	PubMed
involved_in regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoic acid receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinoic acid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in trachea cartilage development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: retinoic acid receptor gamma

Names: RAR-gamma; nuclear receptor subfamily 1 group B member 3

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_029822.1 RefSeqGene

Range

5048..26688

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000966.6 → NP_000957.1 retinoic acid receptor gamma isoform 1

See identical proteins and their annotated locations for NP_000957.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC072462, DA436501

Consensus CDS

CCDS8850.1

UniProtKB/Swiss-Prot

B7Z492, B7Z4F1, B7ZAE4, J3KNP6, P13631, P22932, Q15281, Q52LZ8, Q9BYX8, Q9H1I3, Q9UJ38

UniProtKB/TrEMBL

A8K3H3, B7Z4T4

Related

ENSP00000388510.2, ENST00000425354.7

Conserved Domains (2) summary

cd06937
Location:188 → 418

NR_LBD_RAR; The ligand binding domain (LBD) of retinoic acid receptor (RAR), a members of the nuclear receptor superfamily

cd06964
Location:85 → 165

NR_DBD_RAR; DNA-binding domain of retinoic acid receptor (RAR) is composed of two C4-type zinc fingers
NM_001042728.3 → NP_001036193.1 retinoic acid receptor gamma isoform 2

See identical proteins and their annotated locations for NP_001036193.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an alternate start codon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1.

Source sequence(s)

AK297277, AK316259, BC072462, DC294855

Consensus CDS

CCDS41790.1

UniProtKB/TrEMBL

B7Z4T4, F1D8P1

Related

ENSP00000343698.5, ENST00000338561.9

Conserved Domains (2) summary

cd06937
Location:177 → 407

NR_LBD_RAR; The ligand binding domain (LBD) of retinoic acid receptor (RAR), a members of the nuclear receptor superfamily

cd06964
Location:74 → 154

NR_DBD_RAR; DNA-binding domain of retinoic acid receptor (RAR) is composed of two C4-type zinc fingers
NM_001243730.2 → NP_001230659.1 retinoic acid receptor gamma isoform 4

See identical proteins and their annotated locations for NP_001230659.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon containing the start codon used in variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (4) with a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK297023, BC072462, DA436501

Consensus CDS

CCDS58236.1

UniProtKB/TrEMBL

B7Z4B4

Related

ENSP00000377947.2, ENST00000394426.5

Conserved Domains (2) summary

cd06937
Location:116 → 346

NR_LBD_RAR; The ligand binding domain (LBD) of retinoic acid receptor (RAR), a members of the nuclear receptor superfamily

cd06964
Location:13 → 93

NR_DBD_RAR; DNA-binding domain of retinoic acid receptor (RAR) is composed of two C4-type zinc fingers
NM_001243731.2 → NP_001230660.1 retinoic acid receptor gamma isoform 5

See identical proteins and their annotated locations for NP_001230660.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two consecutive exons compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (5) with a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK297110, BC072462

UniProtKB/TrEMBL

B7Z4B4

Conserved Domains (2) summary

cd06937
Location:67 → 297

NR_LBD_RAR; The ligand binding domain (LBD) of retinoic acid receptor (RAR), a members of the nuclear receptor superfamily

cl02596
Location:1 → 44

NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
NM_001243732.2 → NP_001230661.1 retinoic acid receptor gamma isoform 3

See identical proteins and their annotated locations for NP_001230661.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and lacks another coding exon compared to variant 1. This results in translation initiation from an alternate start codon, and a shorter isoform (3) with a distinct N-terminus compared to isoform 1.

Source sequence(s)

AK297277, BC072462, DC294855

Consensus CDS

CCDS58237.1

UniProtKB/Swiss-Prot

P13631

Related

ENSP00000444335.1, ENST00000543726.1

Conserved Domains (2) summary

cd06937
Location:166 → 396

NR_LBD_RAR; The ligand binding domain (LBD) of retinoic acid receptor (RAR), a members of the nuclear receptor superfamily

cl02596
Location:88 → 146

NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers