REG3G regenerating family member 3 gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: REG3Gprovided by HGNC
Official Full Name: regenerating family member 3 gammaprovided by HGNC
Primary source: HGNC:HGNC:29595
See related: Ensembl:ENSG00000143954 MIM:609933; AllianceGenome:HGNC:29595
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: PAP1B; PAPIB; PAP IB; PAP-1B; UNQ429; LPPM429; REG III; REG-III
Summary: This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014]
Expression: Restricted expression toward testis (RPKM 33.7) 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 (79025702..79028501)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (79025993..79028792)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (79252828..79255627)

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?

Proteasome-dependent degradation of Smad7 is critical for lung cancer metastasis.
Title: Proteasome-dependent degradation of Smad7 is critical for lung cancer metastasis.
Myocardial Accumulations of Reg3A, Reg3gamma and Oncostatin M Are Associated with the Formation of Granulomata in Patients with Cardiac Sarcoidosis.
Title: Myocardial Accumulations of Reg3A, Reg3γ and Oncostatin M Are Associated with the Formation of Granulomata in Patients with Cardiac Sarcoidosis.
Role of oncogenic REGgamma in cancer.
Title: Role of oncogenic REGγ in cancer.
This gene encodes a secreted peptide that displays antimicrobial activity against Gram-positive bacteria.
Title: Symbiotic bacteria direct expression of an intestinal bactericidal lectin.
a model of CagA-directed REG3gamma expression in gastric epithelial cells via activation of the IL-11/gp130/STAT3 pathway
Title: Helicobacter pylori CagA triggers expression of the bactericidal lectin REG3γ via gastric STAT3 activation.
REG III was identified and expressed predominantly in pancreas and testis, but not in small intestine
Title: Molecular cloning, expression and chromosomal localization of a novel human REG family gene, REG III.
PAP IB represents a good example of duplication and divergence, probably with the acquisition of new functions, thus participating in the evolution of the protein repertoire.
Title: PAP IB, a new member of the Reg gene family: cloning, expression, structural properties, and evolution by gene duplication.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oligosaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
enables oligosaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables peptidoglycan binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptidoglycan binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in MyD88-dependent toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of keratinocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of keratinocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of wound healing	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to peptide hormone	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: regenerating islet-derived protein 3-gamma

Names: REG-3-gamma; pancreatitis-associated protein 1B; pancreatitis-associated protein IB; reg III-gamma; regenerating gene III; regenerating islet-derived 3 gamma; regenerating islet-derived protein III-gamma

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_001008387.3 → NP_001008388.1 regenerating islet-derived protein 3-gamma isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001008388.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.

Source sequence(s)

AB161038, AK292595

Consensus CDS

CCDS1962.1

UniProtKB/Swiss-Prot

A8K980, D6W5J6, Q3SYE4, Q3SYE6, Q6FH18, Q6UW15

Related

ENSP00000272324.5, ENST00000272324.10

Conserved Domains (1) summary

cd03594
Location:40 → 173

CLECT_REG-1_like; C-type lectin-like domain (CTLD) of the type found in Human REG-1 (lithostathine), REG-4, and avian eggshell-specific proteins: ansocalcin, structhiocalcin-1(SCA-1), and -2(SCA-2)
NM_001270040.2 → NP_001256969.1 regenerating islet-derived protein 3-gamma isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001256969.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.

Source sequence(s)

AK292595, BC103852, BX280299

Consensus CDS

CCDS58714.1

UniProtKB/Swiss-Prot

Q6UW15

Related

ENSP00000387105.1, ENST00000409471.1

Conserved Domains (1) summary

cl02432
Location:40 → 127

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
NM_198448.4 → NP_940850.1 regenerating islet-derived protein 3-gamma isoform 1 preproprotein

See identical proteins and their annotated locations for NP_940850.1

Status: REVIEWED

Description

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

Source sequence(s)

AK292595

Consensus CDS

CCDS1962.1

UniProtKB/Swiss-Prot

A8K980, D6W5J6, Q3SYE4, Q3SYE6, Q6FH18, Q6UW15

Related

ENSP00000377475.2, ENST00000393897.6

Conserved Domains (1) summary

cd03594
Location:40 → 173

CLECT_REG-1_like; C-type lectin-like domain (CTLD) of the type found in Human REG-1 (lithostathine), REG-4, and avian eggshell-specific proteins: ansocalcin, structhiocalcin-1(SCA-1), and -2(SCA-2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

79025702..79028501

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005264135.3 → XP_005264192.1 regenerating islet-derived protein 3-gamma isoform X1

See identical proteins and their annotated locations for XP_005264192.1

UniProtKB/Swiss-Prot

A8K980, D6W5J6, Q3SYE4, Q3SYE6, Q6FH18, Q6UW15

Conserved Domains (1) summary

cd03594
Location:40 → 173

CLECT_REG-1_like; C-type lectin-like domain (CTLD) of the type found in Human REG-1 (lithostathine), REG-4, and avian eggshell-specific proteins: ansocalcin, structhiocalcin-1(SCA-1), and -2(SCA-2)
XM_024452693.2 → XP_024308461.1 regenerating islet-derived protein 3-gamma isoform X2

Conserved Domains (1) summary

cl02432
Location:40 → 127

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain
XM_024452694.2 → XP_024308462.1 regenerating islet-derived protein 3-gamma isoform X2

Conserved Domains (1) summary

cl02432
Location:40 → 127

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

79025993..79028792

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340515.1 → XP_054196490.1 regenerating islet-derived protein 3-gamma isoform X2
XM_054340514.1 → XP_054196489.1 regenerating islet-derived protein 3-gamma isoform X2
XM_054340513.1 → XP_054196488.1 regenerating islet-derived protein 3-gamma isoform X1

UniProtKB/Swiss-Prot

A8K980, D6W5J6, Q3SYE4, Q3SYE6, Q6FH18, Q6UW15