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TGFBR3L transforming growth factor beta receptor 3 like [ Homo sapiens (human) ]

Gene ID: 100507588, updated on 2-Nov-2024

Summary

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Official Symbol
TGFBR3Lprovided by HGNC
Official Full Name
transforming growth factor beta receptor 3 likeprovided by HGNC
Primary source
HGNC:HGNC:44152
See related
Ensembl:ENSG00000260001 AllianceGenome:HGNC:44152
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
Also known as
GEMP; TGFR-3L
Summary
Predicted to enable glycosaminoglycan binding activity; transforming growth factor beta receptor activity; and type II transforming growth factor beta receptor binding activity. Predicted to contribute to transforming growth factor beta binding activity. Predicted to be involved in several processes, including epithelial to mesenchymal transition; regulation of transforming growth factor beta receptor signaling pathway; and transforming growth factor beta receptor signaling pathway. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in kidney (RPKM 1.1), brain (RPKM 1.1) and 11 other tissues See more
Orthologs
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Genomic context

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See TGFBR3L in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7914830..7919097)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7915785..7920052)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7979715..7983982)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 8 VRAC subunit E Neighboring gene uncharacterized LOC124904630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7968039-7968616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7969265-7969804 Neighboring gene mitogen-activated protein kinase kinase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7980702-7981202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7981823-7982699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7982700-7983575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7984251-7984750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7986451-7987053 Neighboring gene small nuclear RNA activating complex polypeptide 2 Neighboring gene uncharacterized LOC124904629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10003 Neighboring gene cortexin 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. TGFBR3L is associated with gonadotropin production in non-functioning gonadotroph pituitary neuroendocrine tumours.
    Title: TGFBR3L is associated with gonadotropin production in non-functioning gonadotroph pituitary neuroendocrine tumours.
  2. Data show that the rs11669203 G>C polymorphism, located in transforming growth factor-beta receptor type 3-like protein (TGFBR3L) promoter, is significantly associated with the risk of neuroblastoma (NB).
    Title: Single nucleotide polymorphism rs11669203 in TGFBR3L is associated with the risk of neuroblastoma in a Chinese population.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycosaminoglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transforming growth factor beta receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables type II transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in epithelial to mesenchymal transition IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transforming growth factor-beta receptor type 3-like protein
Names
TGF-beta receptor type III-like protein
TGF-beta receptor type-3-like protein
gonadotroph enriched membrane protein
transforming growth factor, beta receptor III-like
transforming growth factor-beta receptor type III-like protein

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_001195259.2 → NP_001182188.1  transforming growth factor-beta receptor type 3-like protein isoform 2

    See identical proteins and their annotated locations for NP_001182188.1

    Status: VALIDATED

    Source sequence(s)
    AC010336
    Consensus CDS
    CCDS58648.1
    UniProtKB/Swiss-Prot
    H3BV60
    Related
    ENST00000565886.3
    Conserved Domains (1) summary
    pfam00100
    Location:75 → 174
    Zona_pellucida; Zona pellucida-like domain

  2. NM_001419781.1 → NP_001406710.1  transforming growth factor-beta receptor type 3-like protein isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC010336
    UniProtKB/Swiss-Prot
    H3BV60
    Related
    ENSP00000519206.1, ENST00000713907.1

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    7914830..7919097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527610.3 → XP_011525912.1  transforming growth factor-beta receptor type 3-like protein isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BH11
    Conserved Domains (1) summary
    pfam00100
    Location:120 → 200
    Zona_pellucida; Zona pellucida-like domain

  2. XM_011527613.3 → XP_011525915.1  transforming growth factor-beta receptor type 3-like protein isoform X2

    See identical proteins and their annotated locations for XP_011525915.1

    Conserved Domains (1) summary
    pfam00100
    Location:120 → 200
    Zona_pellucida; Zona pellucida-like domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7915785..7920052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319480.1 → XP_054175455.1  transforming growth factor-beta receptor type 3-like protein isoform X1

  2. XM_054319481.1 → XP_054175456.1  transforming growth factor-beta receptor type 3-like protein isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
H3BV60.2 GenPept UniProtKB/Swiss-Prot:H3BV60

Gene LinkOut

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