RAP2C RAP2C, member of RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAP2Cprovided by HGNC
Official Full Name: RAP2C, member of RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:21165
See related: Ensembl:ENSG00000123728 MIM:301016; AllianceGenome:HGNC:21165
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
Summary: The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Expression: Ubiquitous expression in endometrium (RPKM 31.6), bone marrow (RPKM 18.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (132203025..132219447, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (130527262..130543665, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (131337053..131353475, complement)

Chromosome X - NC_000023.11 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 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?

The LncRNA LENOX Interacts with RAP2C to Regulate Metabolism and Promote Resistance to MAPK Inhibition in Melanoma.
Title: The LncRNA LENOX Interacts with RAP2C to Regulate Metabolism and Promote Resistance to MAPK Inhibition in Melanoma.
MicroRNA200c3p suppresses intervertebral disc degeneration by targeting RAP2C/ERK signaling.
Title: MicroRNA‑200c‑3p suppresses intervertebral disc degeneration by targeting RAP2C/ERK signaling.
microRNA-195 Promotes Small Cell Lung Cancer Cell Apoptosis via Inhibiting Rap2C Protein-Dependent MAPK Signal Transduction.
Title: microRNA-195 Promotes Small Cell Lung Cancer Cell Apoptosis via Inhibiting Rap2C Protein-Dependent MAPK Signal Transduction.
MicroRNA-188-5p promotes apoptosis and inhibits cell proliferation of breast cancer cells via the MAPK signaling pathway by targeting Rap2c.
Title: MicroRNA-188-5p promotes apoptosis and inhibits cell proliferation of breast cancer cells via the MAPK signaling pathway by targeting Rap2c.
Study found that SCII upregulated the expression of miR-204 and downregulated the expression of RAP2C; that hypoxia increased the expression of miR-204 and decreased the expression of RAP2C, and overexpression of RAP2C attenuates the effect of hypoxia on apoptosis rate; and miR-204 could directly bind to RAP2C, and could regulate the expression of RAP2C.
Title: Spinal cord ischemia-reperfusion causes damage of neurocyte by inhibiting RAP2C.
JAM-A regulates epithelial permeability via association with ZO-2, afadin, and PDZ-GEF1 to activate Rap2c and control contraction of the apical cytoskeleton.
Title: JAM-A associates with ZO-2, afadin, and PDZ-GEF1 to activate Rap2c and regulate epithelial barrier function.
RAP2C is a novel member of the Ras family, belonging to the Rap branch of small GTPase proteins and may be involved in SRE-mediated gene transcription.
Title: Cloning and characterization of the human gene RAP2C, a novel member of Ras family, which activates transcriptional activities of SRE.
This work demonstrates that Rap2C is a new member of the Rap2 subfamily of proteins, able to bind guanine nucleotides with peculiar properties, and differently expressed by various hematopoietic subsets
Title: Identification and biochemical characterization of Rap2C, a new member of the Rap family of small GTP-binding proteins.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7405 (e-PCR)
- UniSTS:23684

RH94237 (e-PCR)
- UniSTS:87254

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GDP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Rap protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Rap protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of endothelial intestinal barrier	IGI Inferred from Genetic Interaction more info	PubMed
involved_in establishment of endothelial intestinal barrier	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell contact zone	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related protein Rap-2c

Names: small GTPase RAP2C

NP_001258115.1

EC 3.6.5.2

NP_001258116.1

EC 3.6.5.2

NP_067006.3

EC 3.6.5.2

XP_006724838.1

EC 3.6.5.2

XP_011529678.1

EC 3.6.5.2

XP_047298245.1

EC 3.6.5.2

XP_047298246.1

EC 3.6.5.2

XP_054183440.1

EC 3.6.5.2

XP_054183441.1

EC 3.6.5.2

XP_054183442.1

EC 3.6.5.2

XP_054183443.1

EC 3.6.5.2

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.

mRNA and Protein(s)

NM_001271186.2 → NP_001258115.1 ras-related protein Rap-2c isoform 1 precursor

See identical proteins and their annotated locations for NP_001258115.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AY298955, BC035382, BX399437, DB252216

Consensus CDS

CCDS14632.1

UniProtKB/Swiss-Prot

B3KWD6, Q5H9H9, Q9BTS0, Q9Y3L5

Related

ENSP00000359911.1, ENST00000370874.2

Conserved Domains (1) summary

cd04176
Location:3 → 165

Rap2; Rap2 family GTPase consists of Rap2a, Rap2b, and Rap2c
NM_001271187.2 → NP_001258116.1 ras-related protein Rap-2c isoform 2

See identical proteins and their annotated locations for NP_001258116.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' structure, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK310997, AY298955, BI767215, CN308919

Consensus CDS

CCDS76024.1

UniProtKB/TrEMBL

A0A087X2C3

Related

ENSP00000484870.1, ENST00000620646.4

Conserved Domains (1) summary

cl38936
Location:1 → 99

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_021183.5 → NP_067006.3 ras-related protein Rap-2c isoform 1 precursor

See identical proteins and their annotated locations for NP_067006.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AY298955

Consensus CDS

CCDS14632.1

UniProtKB/Swiss-Prot

B3KWD6, Q5H9H9, Q9BTS0, Q9Y3L5

Related

ENSP00000340274.2, ENST00000342983.6

Conserved Domains (1) summary

cd04176
Location:3 → 165

Rap2; Rap2 family GTPase consists of Rap2a, Rap2b, and Rap2c

RNA

NR_073150.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.

Source sequence(s)

AK310997, AY298955, BI767215