REG1CP regenerating family member 1 gamma, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: REG1CPprovided by HGNC
Official Full Name: regenerating family member 1 gamma, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:9953
See related: AllianceGenome:HGNC:9953
Gene type: pseudo
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RS; REGL; REG1P
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Genomic context

Location:: 2p12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (79135503..79138427, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (79135821..79138745, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (79362629..79365553, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings revealed a specific mutation in lncRNA Reg1cp that is involved in the pathogenesis of high bone mass and provides a new target to treat osteoporosis.
Title: Krüppel-like factor 3 inhibition by mutated lncRNA Reg1cp results in human high bone mass syndrome.
LncRNA REG1CP forms an RNA-DNA triplex with a homopurine stretch at the distal promoter of the REG3A gene, through which the DNA helicase FANCJ (FANCJ) is tethered to the core promoter of REG3A protein (REG3A) and facilitates REG3A transcription.
Title: LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription.

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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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SGC35492 (e-PCR)
- UniSTS:71985

NoName (e-PCR)
- UniSTS:483930

RH78218 (e-PCR)
- UniSTS:28340

Other Names

regenerating islet-derived 1 pseudogene
regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)
regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like

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.

RNA

NR_002714.1 RNA Sequence

Status: PROVISIONAL

Source sequence(s)

AK126561

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

79135503..79138427 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

79135821..79138745 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006508.1: Suppressed sequence

Description

NM_006508.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.