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

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: all
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Genomic context

Location:: 2p12

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (79085023..79087993, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (79085341..79088311, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (79312149..79315119, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Faecal regenerating 1B protein concentration is not associated with child growth in rural Malawi.
Title: Faecal regenerating 1B protein concentration is not associated with child growth in rural Malawi.
REG-I is expressed in head and neck squamous cell carcinoma and is associated with a longer survival status.
Title: Prognostic role of regenerating gene-I in patients with stage-IV head and neck squamous cell carcinoma.
the expression of REG Ialpha and REG Ibeta may be upregulated in human beta cells under inflammatory conditions through the JAK/STAT pathway
Title: Synergistic activations of REG I α and REG I β promoters by IL-6 and Glucocorticoids through JAK/STAT pathway in human pancreatic β cells.
Additional serum biomarkers, particularly SYCN and REG1B, when combined with CA19.9, show promise as improved diagnostic indicators of pancreatic cancer, which therefore warrants further validation.
Title: Validation of four candidate pancreatic cancer serological biomarkers that improve the performance of CA19.9.
Immunohistochemistry against known cell-type markers on serial sections has localised the expression of REGs to metaplastic Paneth cells (REG1A, REG1B and REG3A) and enteroendocrine cells (REG4), with a marked expansion of expression during inflammation.
Title: REG gene expression in inflamed and healthy colon mucosa explored by in situ hybridisation.
Higher REG1B stool concentrations at month 3 were significantly and independently associated with a growth shortfall in Bangladeshi and Peruvian children.
Title: REG1B as a predictor of childhood stunting in Bangladesh and Peru.
REG 1A and REG 1B were upregulated during amebiasis and may function to protect the intestinal epithelium from parasite-induced apoptosis.
Title: The expression of REG 1A and REG 1B is increased during acute amebic colitis.
The expression of MK-1 and/or RegIV might be closely related to the carcinogenesis, clinical biological behaviors, and prognosis of gallbladder adenocarcinoma
Title: Expression of MK-1 and RegIV and its clinicopathological significances in the benign and malignant lesions of gallbladder.
This finding suggests that REG I may act through IL-6 to exert effects on squamous esophageal cancer cell biology.
Title: Regenerating gene I regulates interleukin-6 production in squamous esophageal cancer cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

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

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

RH70262 (e-PCR)
- UniSTS:57663

RH78902 (e-PCR)
- UniSTS:50080

RH78218 (e-PCR)
- UniSTS:28340

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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.