PRTG protogenin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRTGprovided by HGNC
Official Full Name: protogeninprovided by HGNC
Primary source: HGNC:HGNC:26373
See related: Ensembl:ENSG00000166450 MIM:613261; AllianceGenome:HGNC:26373
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: IGDCC5
Summary: This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]
Expression: Biased expression in thyroid (RPKM 4.7), endometrium (RPKM 1.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (55611544..55743152, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (53414697..53546336, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (55903742..56035350, complement)

Chromosome 15 - NC_000015.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The novel ZEB1-upregulated protein PRTG induced by Helicobacter pylori infection promotes gastric carcinogenesis through the cGMP/PKG signaling pathway.
Title: The novel ZEB1-upregulated protein PRTG induced by Helicobacter pylori infection promotes gastric carcinogenesis through the cGMP/PKG signaling pathway.
We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P
Title: Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
PRTG is regulated by miRNA9, plays an inhibitory action on survival of chondroblasts and articular chondrocytes during chondrogenesis and osteoarthritis pathogenesis.
Title: MicroRNA-9 regulates survival of chondroblasts and cartilage integrity by targeting protogenin.
Identified association of attention deficit hyperactivity disorder (ADHD) to Protogenin (PRTG), a gene that potentially plays a role in cell migration and axon growth.
Title: Association of ADHD and the Protogenin gene in the chromosome 15q21.3 reading disabilities linkage region.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of ADHD and the Protogenin gene in the chromosome 15q21.3 reading disabilities linkage region.

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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
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. 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

D15S1029 (e-PCR)
- UniSTS:3909

RH99079 (e-PCR)
- UniSTS:86901

G59011 (e-PCR)
- UniSTS:136335

SHGC-79292 (e-PCR)
- UniSTS:102805

bac5082T (e-PCR)
- UniSTS:181405

D15S167E (e-PCR)
- UniSTS:472996

D15S958 (e-PCR)
- UniSTS:10671

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neurogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protogenin

Names: immunoglobulin superfamily, DCC subclass, member 5; protogenin homolog (Gallus gallus); shen-dan

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_173814.6 → NP_776175.2 protogenin precursor

See identical proteins and their annotated locations for NP_776175.2

Status: REVIEWED

Source sequence(s)

AC009997, AC012378, AK022857, AK023283, AY630258, BQ215513, CN283887, CN352629, CN352630, CN360440, CN360445, CN369786, CN369787, CN371161, CN371162, CN371165, CN371167, DA732429, DA737881

Consensus CDS

CCDS42040.1

UniProtKB/Swiss-Prot

Q2VWP7, Q8N7D8

Related

ENSP00000373937.4, ENST00000389286.9

Conserved Domains (6) summary

smart00408
Location:250 → 309

IGc2; Immunoglobulin C-2 Type

smart00410
Location:141 → 223

IG_like; Immunoglobulin like

cd00063
Location:821 → 911

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:327 → 412

I-set; Immunoglobulin I-set domain

pfam00041
Location:624 → 699

fn3; Fibronectin type III domain

cl11960
Location:40 → 130

Ig; Immunoglobulin domain

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

55611544..55743152 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022081.3 → XP_016877570.1 protogenin isoform X1
XM_017022082.3 → XP_016877571.1 protogenin isoform X2
XM_011521460.3 → XP_011519762.1 protogenin isoform X4

Conserved Domains (5) summary

smart00408
Location:250 → 309

IGc2; Immunoglobulin C-2 Type

smart00410
Location:141 → 223

IG_like; Immunoglobulin like

cd00063
Location:419 → 512

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:327 → 412

I-set; Immunoglobulin I-set domain

cl11960
Location:40 → 130

Ig; Immunoglobulin domain
XM_011521459.3 → XP_011519761.1 protogenin isoform X3

Conserved Domains (5) summary

smart00408
Location:250 → 309

IGc2; Immunoglobulin C-2 Type

smart00410
Location:141 → 223

IG_like; Immunoglobulin like

cd00063
Location:419 → 512

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:327 → 412

I-set; Immunoglobulin I-set domain

cl11960
Location:40 → 130

Ig; Immunoglobulin domain