U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PRRT4 proline rich transmembrane protein 4 [ Homo sapiens (human) ]

Gene ID: 401399, updated on 10-Dec-2024

Summary

Go to the top of the page Help
Official Symbol
PRRT4provided by HGNC
Official Full Name
proline rich transmembrane protein 4provided by HGNC
Primary source
HGNC:HGNC:37280
See related
Ensembl:ENSG00000224940 AllianceGenome:HGNC:37280
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Biased expression in bone marrow (RPKM 11.2) and fat (RPKM 5.1) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PRRT4 in Genome Data Viewer
Location:
7q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128350325..128361983, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129662082..129673815, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127990379..128002037, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene aurora kinase A pseudogene Neighboring gene RNA binding motif protein 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127959579-127960080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26597 Neighboring gene RNA, U7 small nuclear 27 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999072-127999941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:127999942-128000810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128000811-128001679 Neighboring gene uncharacterized LOC107986845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128031425-128031926 Neighboring gene inosine monophosphate dehydrogenase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128043787-128044403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128044404-128045019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128045637-128046251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18607 Neighboring gene ribosomal protein L37 pseudogene 16

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. Emdal KB, et al. Sci Signal, 2015 Apr 28. PMID 25921289
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
proline-rich transmembrane protein 4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001114726.3 → NP_001108198.2  proline-rich transmembrane protein 4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001108198.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks both an exon in the 5' UTR and a segment in the 3' coding region, which causes a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC010655, BC063892, BU688038
    Consensus CDS
    CCDS47698.2
    UniProtKB/Swiss-Prot
    C9JH25
    Related
    ENSP00000419296.2, ENST00000489835.6
    Conserved Domains (1) summary
    pfam15782
    Location:113 → 304
    GREB1; Gene regulated by oestrogen in breast cancer

  2. NM_001174164.2 → NP_001167635.1  proline-rich transmembrane protein 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001167635.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010655, BU688038, BX327107, BX355277
    Consensus CDS
    CCDS55160.1
    UniProtKB/Swiss-Prot
    A4D0Z9, C9JH25, C9JVW7
    Related
    ENSP00000415026.2, ENST00000446477.7
    Conserved Domains (1) summary
    pfam15782
    Location:113 → 304
    GREB1; Gene regulated by oestrogen in breast cancer

  3. NM_001395429.1 → NP_001382358.1  proline-rich transmembrane protein 4 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655
    Consensus CDS
    CCDS55160.1
    UniProtKB/Swiss-Prot
    A4D0Z9, C9JH25, C9JVW7
    Related
    ENSP00000445239.1, ENST00000535159.5

  4. NM_001405492.1 → NP_001392421.1  proline-rich transmembrane protein 4 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655

  5. NM_001405493.1 → NP_001392422.1  proline-rich transmembrane protein 4 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655

  6. NM_001405494.1 → NP_001392423.1  proline-rich transmembrane protein 4 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655
    Consensus CDS
    CCDS47698.2

  7. NM_001405495.1 → NP_001392424.1  proline-rich transmembrane protein 4 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655

  8. NM_001405496.1 → NP_001392425.1  proline-rich transmembrane protein 4 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010655

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

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    128350325..128361983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420374.1 → XP_047276330.1  proline-rich transmembrane protein 4 isoform X4

  2. XM_047420371.1 → XP_047276327.1  proline-rich transmembrane protein 4 isoform X2

  3. XM_047420368.1 → XP_047276324.1  proline-rich transmembrane protein 4 isoform X2

  4. XM_047420366.1 → XP_047276322.1  proline-rich transmembrane protein 4 isoform X1

  5. XM_047420369.1 → XP_047276325.1  proline-rich transmembrane protein 4 isoform X2

  6. XM_017012206.2 → XP_016867695.1  proline-rich transmembrane protein 4 isoform X2

    UniProtKB/Swiss-Prot
    C9JH25
    Conserved Domains (1) summary
    pfam15782
    Location:113 → 304
    GREB1; Gene regulated by oestrogen in breast cancer

  7. XM_047420373.1 → XP_047276329.1  proline-rich transmembrane protein 4 isoform X4

  8. XM_047420372.1 → XP_047276328.1  proline-rich transmembrane protein 4 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    129662082..129673815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358211.1 → XP_054214186.1  proline-rich transmembrane protein 4 isoform X2

  2. XM_054358208.1 → XP_054214183.1  proline-rich transmembrane protein 4 isoform X1

  3. XM_054358215.1 → XP_054214190.1  proline-rich transmembrane protein 4 isoform X4

  4. XM_054358209.1 → XP_054214184.1  proline-rich transmembrane protein 4 isoform X2

  5. XM_054358207.1 → XP_054214182.1  proline-rich transmembrane protein 4 isoform X1

  6. XM_054358210.1 → XP_054214185.1  proline-rich transmembrane protein 4 isoform X2

  7. XM_054358213.1 → XP_054214188.1  proline-rich transmembrane protein 4 isoform X4

  8. XM_054358214.1 → XP_054214189.1  proline-rich transmembrane protein 4 isoform X4

  9. XM_054358212.1 → XP_054214187.1  proline-rich transmembrane protein 4 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9JH25.1 GenPept UniProtKB/Swiss-Prot:C9JH25

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools