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    BMP8A bone morphogenetic protein 8a [ Homo sapiens (human) ]

    Gene ID: 353500, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BMP8Aprovided by HGNC
    Official Full Name
    bone morphogenetic protein 8aprovided by HGNC
    Primary source
    HGNC:HGNC:21650
    See related
    Ensembl:ENSG00000183682 MIM:620847; AllianceGenome:HGNC:21650
    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
    Op2; OP-2
    Summary
    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in thyroid (RPKM 57.4) and endometrium (RPKM 2.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See BMP8A in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39491636..39529869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39359546..39398241)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39957308..39995541)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microtubule actin crosslinking factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 810 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:39811169-39811670 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:39812278-39813477 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:39824023-39825222 Neighboring gene MACF1 eExon liver enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 699 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:39933786-39933926 Neighboring gene uncharacterized LOC124904101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 811 Neighboring gene tRNA-Lys (anticodon CTT) 12-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988287-39988788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988789-39989288 Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036267-40036768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036769-40037268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 812 Neighboring gene peptidylprolyl isomerase E like (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 814 Neighboring gene PABPC4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 705 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7951 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7954 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 707 Neighboring gene hes related family bHLH transcription factor with YRPW motif like

    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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    Related articles in PubMed

    1. Recent progress in the biology and physiology of BMP-8a. Tang J, et al. Connect Tissue Res, 2023 May. PMID 36594156
    2. Comparative integromics on BMP/GDF family. Katoh Y, et al. Int J Mol Med, 2006 May. PMID 16596286
    3. Genetic profile of Egyptian hepatocellular-carcinoma associated with hepatitis C virus Genotype 4 by 15 K cDNA microarray: preliminary study. Zekri AR, et al. BMC Res Notes, 2008 Oct 29. PMID 18959789, Free PMC Article
    4. Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years. Carson AR, et al. BMC Evol Biol, 2009 Jul 7. PMID 19583854, Free PMC Article
    5. Genome-wide DNA methylation studies suggest distinct DNA methylation patterns in pediatric embryonal and alveolar rhabdomyosarcomas. Mahoney SE, et al. Epigenetics, 2012 Apr. PMID 22419069, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recent progress in the biology and physiology of BMP-8a.
      Title: Recent progress in the biology and physiology of BMP-8a.
    2. Human bone morphogenetic protein 8A promotes expansion and prevents apoptosis of cumulus cells in vitro.
      Title: Human bone morphogenetic protein 8A promotes expansion and prevents apoptosis of cumulus cells in vitro.
    3. Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway.
      Title: Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway.
    4. Serous BMP8A has Clinical Significance in the Ultrasonic Diagnosis of Thyroid Cancer and Promotes Thyroid Cancer Cell Progression.
      Title: Serous BMP8A has Clinical Significance in the Ultrasonic Diagnosis of Thyroid Cancer and Promotes Thyroid Cancer Cell Progression.
    5. Bone morphogenetic protein 8A (BMP8) is highly expressed in clear cell renal cell carcinoma (ccRCC) suggesting a poor prognosis of ccRCC. BMP8 activates Nrf2 regulated reactive oxygen balance, and by regulating the transcription level of TRIM24, it is involved in the regulation of the Wnt pathway to promote the proliferation, invasion and metastasis of ccRCC and the resistance of As2O3.
      Title: BMP8A promotes survival and drug resistance via Nrf2/TRIM24 signaling pathway in clear cell renal cell carcinoma.
    6. Authors found that Bmp8a, but not Bmp8b, was expressed predominantly in the neonatal mouse spermatogonia. Although most BMPs induce activation of SMADs 1, 5, and 8 (SMAD1/5/8), but not SMADs 2 and 3 (SMAD2/3), they found that BMP8A induced signaling through both sets of transcription factors.
      Title: BMP8A sustains spermatogenesis by activating both SMAD1/5/8 and SMAD2/3 in spermatogonia.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14351, FLJ45264

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in diet induced thermogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in energy homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    bone morphogenetic protein 8A
    Names
    BMP-8A

    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_181809.4 → NP_861525.2  bone morphogenetic protein 8A preproprotein

      See identical proteins and their annotated locations for NP_861525.2

      Status: REVIEWED

      Source sequence(s)
      AL365277, AY303954, BU616301
      Consensus CDS
      CCDS437.1
      UniProtKB/Swiss-Prot
      Q5T3A5, Q7Z5Y6
      Related
      ENSP00000327440.5, ENST00000331593.6
      Conserved Domains (2) summary
      pfam00019
      Location:299 → 401
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:33 → 251
      TGFb_propeptide; TGF-beta propeptide

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      39491636..39529869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710616.4 → XP_006710679.1  bone morphogenetic protein 8A isoform X1

      Conserved Domains (1) summary
      pfam00688
      Location:33 → 226
      TGFb_propeptide; TGF-beta propeptide

    2. XM_017001198.3 → XP_016856687.1  bone morphogenetic protein 8A isoform X2

    3. XM_011541381.3 → XP_011539683.1  bone morphogenetic protein 8A isoform X3

      Conserved Domains (1) summary
      pfam00688
      Location:33 → 224
      TGFb_propeptide; TGF-beta propeptide

    4. XM_011541382.3 → XP_011539684.1  bone morphogenetic protein 8A isoform X4

      Conserved Domains (1) summary
      pfam00688
      Location:33 → 230
      TGFb_propeptide; TGF-beta propeptide

    RNA

    1. XR_946641.3 RNA Sequence

    2. XR_946640.3 RNA Sequence

    3. XR_946642.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      39359546..39398241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336386.1 → XP_054192361.1  bone morphogenetic protein 8A isoform X5

    2. XM_054336387.1 → XP_054192362.1  bone morphogenetic protein 8A isoform X2

    3. XM_054336388.1 → XP_054192363.1  bone morphogenetic protein 8A isoform X3

    4. XM_054336389.1 → XP_054192364.1  bone morphogenetic protein 8A isoform X4

    RNA

    1. XR_008486029.1 RNA Sequence

    2. XR_008486031.1 RNA Sequence

    3. XR_008486030.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5Y6.2 GenPept UniProtKB/Swiss-Prot:Q7Z5Y6

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