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

    Gene ID: 100507588, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in kidney (RPKM 1.1), brain (RPKM 1.1) and 11 other tissues See more
    Orthologs
    mouse all
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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
    • 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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    Related articles in PubMed

    1. TGFBR3L is associated with gonadotropin production in non-functioning gonadotroph pituitary neuroendocrine tumours. Kolnes AJ, et al. Pituitary, 2023 Apr. PMID 36952069, Free PMC Article
    2. TGFBR3L-An Uncharacterised Pituitary Specific Membrane Protein Detected in the Gonadotroph Cells in Non-Neoplastic and Tumour Tissue. Sjöstedt E, et al. Cancers (Basel), 2020 Dec 31. PMID 33396509, Free PMC Article
    3. Single nucleotide polymorphism rs11669203 in TGFBR3L is associated with the risk of neuroblastoma in a Chinese population. Jin Y, et al. Tumour Biol, 2016 Mar. PMID 26468016
    4. TGFBR3L is an inhibin B co-receptor that regulates female fertility. Brûlé E, et al. Sci Adv, 2021 Dec 17. PMID 34910520, Free PMC Article
    5. Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts. Dalla E, et al. Genomics, 2005 Jun. PMID 15885500

    See all (6) citations in PubMed

    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

      UniProtKB/TrEMBL
      A0AAQ5BH11

    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

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

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