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BMP2K BMP2 inducible kinase [ Homo sapiens (human) ]

Gene ID: 55589, updated on 5-Mar-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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Location:
4q21.21
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (78776350..78916365)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (82111956..82251982)
105.20220307 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
  • 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. A novel genetic variant of BMP2K contributes to high myopia. Liu HP, et al. J Clin Lab Anal, 2009. PMID 19927351, Free PMC Article
  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. BMP signaling pathways in cartilage and bone formation. Hoffmann A, et al. Crit Rev Eukaryot Gene Expr, 2001. PMID 11693963
  4. The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection. Schor S, et al. J Biol Chem, 2022 Jun. PMID 35452674, Free PMC Article
  5. 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

See all (58) 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 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 phosphorylation 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 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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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_2023_10

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

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