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    BMP2K BMP2 inducible kinase [ Homo sapiens (human) ]

    Gene ID: 55589, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BMP2Kprovided by HGNC
    Official Full Name
    BMP2 inducible kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:18041
    See related
    Ensembl:ENSG00000138756 MIM:617648; AllianceGenome:HGNC:18041
    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
    BIKE; HRIHFB2017
    Summary
    This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 10.8), lymph node (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BMP2K in Genome Data Viewer
    Location:
    4q21.21
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (78776350..78916365)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (82111956..82251982)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (79697504..79837519)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:79696740-79697370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:79698003-79698633 Neighboring gene uncharacterized LOC124900722 Neighboring gene uncharacterized LOC105377299 Neighboring gene BMP2K divergent transcript Neighboring gene ribosomal protein S21 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10702 Neighboring gene RNA, 7SL, cytoplasmic 127, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15515 Neighboring gene progestin and adipoQ receptor family member 3 Neighboring gene long intergenic non-protein coding RNA 1088 Neighboring gene uncharacterized LOC124900723 Neighboring gene MPRA-validated peak5059 silencer Neighboring gene N-alpha-acetyltransferase 11, NatA catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:80169419-80169920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:80218690-80219258

    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. BMP signaling pathways in cartilage and bone formation. Hoffmann A, et al. Crit Rev Eukaryot Gene Expr, 2001. PMID 11693963
    2. Regulation of bone morphogenetic protein-2 expression by endogenous prostaglandin E2 in human mesenchymal stem cells. Arikawa T, et al. J Cell Physiol, 2004 Sep. PMID 15254968
    3. A novel genetic variant of BMP2K contributes to high myopia. Liu HP, et al. J Clin Lab Anal, 2009. PMID 19927351, Free PMC Article
    4. Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells. Cendrowski J, et al. Elife, 2020 Aug 14. PMID 32795391, Free PMC Article
    5. Family-wide Structural Analysis of Human Numb-Associated Protein Kinases. Sorrell FJ, et al. Structure, 2016 Mar 1. PMID 26853940, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection.
      Title: The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection.
    2. Regulation of BMP2K in AP2M1-mediated EGFR internalization during the development of gallbladder cancer.
      Title: Regulation of BMP2K in AP2M1-mediated EGFR internalization during the development of gallbladder cancer.
    3. Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells.
      Title: Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells.
    4. Results present the first structures of AAK1 and BIKE which reveal that all members of the Numb-associated kinase family share unusual activation segment architecture.
      Title: Family-wide Structural Analysis of Human Numb-Associated Protein Kinases.
    5. BMP2K gene 1379 G/A variant is strongly correlated with high myopia and may contribute to a genetic risk factor for high degrees of myopic pathogenesis.
      Title: A novel genetic variant of BMP2K contributes to high myopia.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: A novel genetic variant of BMP2K contributes to high myopia.
    7. PGE2 produced by COX-2 increased BMP-2 expression via binding the EP4 receptor.
      Title: Regulation of bone morphogenetic protein-2 expression by endogenous prostaglandin E2 in human mesenchymal stem cells.
    8. The association of the BMP-2 gene polymorphisms Ser37Ala and Arg190Ser with osteoporosis in 6353 men and women from the Rotterdam Study was studied.
      Title: BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of BMP2 inducible kinase (BMP2K) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434K0614, DKFZp434P0116

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of bone mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BMP-2-inducible protein kinase
    NP_001406728.1
    NP_001406729.1
    NP_060063.2
    NP_942595.1
    XP_016863870.1
    XP_047271887.1
    XP_047271888.1
    XP_054206424.1
    XP_054206425.1
    XP_054206427.1
    XP_054206428.1
    XP_054206429.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_047162.1 RefSeqGene

      Range
      4973..144988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001419799.1 → NP_001406728.1  BMP-2-inducible protein kinase isoform c

      Status: REVIEWED

      Source sequence(s)
      AC093841, AC098818

    2. NM_001419800.1 → NP_001406729.1  BMP-2-inducible protein kinase isoform d

      Status: REVIEWED

      Source sequence(s)
      AC098818

    3. NM_017593.5 → NP_060063.2  BMP-2-inducible protein kinase isoform b

      See identical proteins and their annotated locations for NP_060063.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC098818, AK075278, AL137661, BC036021
      Consensus CDS
      CCDS34019.1
      UniProtKB/Swiss-Prot
      Q9NSY1
      Related
      ENSP00000421768.1, ENST00000502871.5
      Conserved Domains (2) summary
      smart00220
      Location:52 → 311
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14037
      Location:47 → 320
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases

    4. NM_198892.2 → NP_942595.1  BMP-2-inducible protein kinase isoform a

      See identical proteins and their annotated locations for NP_942595.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC093841, AC098818, AL137275, AL137661
      Consensus CDS
      CCDS47083.1
      UniProtKB/Swiss-Prot
      O94791, Q4W5H2, Q8IYF2, Q8N2G7, Q8NHG9, Q9NSY1, Q9NTG8
      Related
      ENSP00000424668.2, ENST00000502613.3
      Conserved Domains (3) summary
      smart00220
      Location:52 → 311
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14037
      Location:47 → 320
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
      pfam15282
      Location:893 → 1161
      BMP2K_C; BMP-2-inducible protein kinase C-terminus

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      78776350..78916365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415932.1 → XP_047271888.1  BMP-2-inducible protein kinase isoform X3

    2. XM_017008381.2 → XP_016863870.1  BMP-2-inducible protein kinase isoform X3

      Conserved Domains (3) summary
      smart00220
      Location:13 → 231
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14037
      Location:1 → 240
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
      pfam15282
      Location:813 → 1081
      BMP2K_C; BMP-2-inducible protein kinase C-terminus

    3. XM_047415931.1 → XP_047271887.1  BMP-2-inducible protein kinase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      82111956..82251982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350453.1 → XP_054206428.1  BMP-2-inducible protein kinase isoform X3

    2. XM_054350449.1 → XP_054206424.1  BMP-2-inducible protein kinase isoform X5

    3. XM_054350450.1 → XP_054206425.1  BMP-2-inducible protein kinase isoform X6

    4. XM_054350454.1 → XP_054206429.1  BMP-2-inducible protein kinase isoform X7

    5. XM_054350452.1 → XP_054206427.1  BMP-2-inducible protein kinase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSY1.2 GenPept UniProtKB/Swiss-Prot:Q9NSY1

    Gene LinkOut

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

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