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FLASH GENE
Symbol BMP5 contributors: - updated : 30-04-2007
HGNC name bone morphogenetic protein 5
HGNC id 1072
Location 6p12.1      Physical location : 55.620.239 - 55.740.375
Synonym symbol(s) MGC34244
DNA
TYPE functioning gene
STRUCTURE 120.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
Binding site
text structure
  • two transcription controle sites
  • GATA1 engrailed
  • MAPPING cloned Y linked   status confirmed
    Physical map
    RN7SK 6pter-p25 RNA, 7SK, nuclear ICK 6p12.3-p11.2 intestinal cell (MAK-like) kinase FBXO9 6p12.3-p11.2 F-box only protein 9 GCM1 6p21-p12 glial cells missing homolog 1 (Drosophila) LOC389398 6 LOC389398 ELOVL5 6p21.1-p12.1 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC391930 6 similar to ribosomal protein L31 LOC391931 6 similar to replication protein A3, 14kDa; replication protein A3 (14kD) GCLC 6p12 glutamate-cysteine ligase, catalytic subunit LOC391932 6 similar to bA345L23.2 (novel protein with BTB/POZ (broad complex Tramtrack bric-a-brac/Pox virus and zinc finger) domain) LRRC1 6p12.1 leucine-rich repeat-containing 1 C6orf142 6p12.2-p12.1 chromosome 6 open reading frame 142 TINAG 6p12-p11.2 tubulointerstitial nephritis antigen CLNS1B 6p12 chloride channel, nucleotide-sensitive, 1B LOC391933 6 similar to Transforming protein p21b (K-Ras 2B) (Ki-Ras) (c-K-ras) LOC221344 6p12.1 hypothetical LOC221344 LOC389399 6 LOC389399 C6orf143 6p12.1 chromosome 6 open reading frame 143 HCRTR2 6p11-q11 hypocretin (orexin) receptor 2 LOC389400 6 similar to IVFI9356 HMGCLL1 6p12.1 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 LOC391934 6 similar to nitrogen fixation cluster-like BMP5 6p11.1 bone morphogenetic protein 5 COL21A1 6p12.3-p11.2 collagen, type XXI, alpha 1 LOC221341 6p12.1 similar to RCC1-like BPAG1 6p12-p11 bullous pemphigoid antigen 1, 230/240kDa C6orf65 6p12.1 chromosome 6 open reading frame 65 MRPL30P1 6p12.1 chromosome 6 open reading frame 65 KIAA1586 6p12.1 KIAA1586 ZNF451 6p12.1 zinc finger protein 451 BAG2 6p12.3-p11.2 BCL2-associated athanogene 2 RAB23 6p11.2-p12.3 RAB23, member RAS oncogene family PRIM2A 6p12-p11.1 primase, polypeptide 2A, 58kDa LOC391935 6 similar to glyceraldehyde 3-phosphate dehydrogenase LOC346245 6p12.1 similar to Chromatin assembly factor 1 subunit C (CAF-1 subunit C) (Chromatin assembly factor I p48 subunit) (CAF-I 48 kDa subunit) (CAF-Ip48) (Retinoblastoma binding protein p48) (Retinoblastoma-binding protein 4) (RBBP-4) (MSI1 pr LOC389401 6 similar to SMA3 protein
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver    
    Reproductivefemale systembreastmammary gland highly
     female systemplacenta  highly
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text developing skeletal structure limb bud,periosteum,perichondrium
    RPE, choroid, trabecular meshwork
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    TGF-beta like domain, TGF-beta propeptide (LAP) like
    isoforms Precursor cleaved at a consensus Arg-X-X-Argto yield C-ter mature domain
    HOMOLOGY
    interspecies homolog to murine short-ear (se)
    homolog to Drosophila decapentaplegic-Vg,DVR family
    intraspecies paralog to BMP6,BMP7
    Homologene
    FAMILY TGFB superfamily
    CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • modulating mesenchymal differentiation and inducing the processes of cartilage and bone formation
  • may play a role in the regeneration of periodontal tissue by promoting cell proliferation and protein expression
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by cleaved by subtilisin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in a syndrome of axial skeletal malformations and heterotopic ossification of the neck and back (ASMHO), analog to the short ear mouse
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    short ear mouse