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REG1B regenerating family member 1 beta [ Homo sapiens (human) ]

Gene ID: 5968, updated on 5-Mar-2024

Summary

Official Symbol
REG1Bprovided by HGNC
Official Full Name
regenerating family member 1 betaprovided by HGNC
Primary source
HGNC:HGNC:9952
See related
Ensembl:ENSG00000172023 MIM:167771; AllianceGenome:HGNC:9952
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
REGH; REGL; PSPS2; REGI-BETA
Summary
This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 280.8), small intestine (RPKM 149.9) and 2 other tissues See more
Orthologs
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Genomic context

Location:
2p12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (79085023..79087993, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (79085341..79088311, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (79312149..79315119, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:79220523-79221189 Neighboring gene regenerating family member 3 gamma Neighboring gene regenerating family member 1 alpha Neighboring gene regenerating family member 1 gamma, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oligosaccharide binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables peptidoglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to peptide hormone IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
lithostathine-1-beta
Names
PSP-2
REG-1-beta
pancreatic stone protein 2
regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)
regenerating islet-derived protein 1-beta
regenerating protein I beta
secretory pancreatic stone protein 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)

  1. NM_006507.4NP_006498.1  lithostathine-1-beta precursor

    See identical proteins and their annotated locations for NP_006498.1

    Status: REVIEWED

    Source sequence(s)
    CA867116, D16816
    Consensus CDS
    CCDS1963.1
    UniProtKB/Swiss-Prot
    P48304
    UniProtKB/TrEMBL
    Q6ICS1
    Related
    ENSP00000303206.3, ENST00000305089.8
    Conserved Domains (1) summary
    cl02432
    Location:36164
    CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    79085023..79087993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    79085341..79088311 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)