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Gene Model: Bmp4

NomenclatureGenomic Location
SymbolBmp4Chromosome1
NameBone morphogenetic protein 4Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 56 Mbp

Molecular Function

Induces cartilage and bone formation. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction.

Molecular Function Terms:

binding
   protein binding
      receptor binding
         cytokine activity
         growth factor activity
         receptor serine/threonine kinase binding

chemoattractant activity

Human Disease Association

Defects in BMP4 are the cause of microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]; also known as microphthalmia and pituitary anomalies or microphthalmia with brain and digit developmental anomalies. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS6 is characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies.

Defects in BMP4 are the cause of non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC11 is an unusual anomaly consisting of a paramedian scar of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero.

Predicted Transcript
     1 ATGACGCCTGGTAACCGGATGCTGATGGTCCTCCTATTGTGCCAAGTGCTGCTCGGAGGG
    61 ACGACTCACCGTGCCAGCCTCATCCCCACCGAGATTGGCAAGAAGAAGGGTGTGGGGGGC
   121 AGTTCCACGGGCTCCTCTCGCCGCCCTCTGCCCAGCCATGAGCTGCTCCGTGGCTTCGAG
   181 GCCACCCTCCTGCAGATGTTTGGCCTCCGCCACCGGCCAAGGCCCAGCCCAGCCGCTCTG
   241 GTGCCCTCCTACATGCTGGACCTCTACCGCCTCCAGTCTGGGGAAGGGGAGGACCGCCTT
   301 CACGACCTCAGCCTCCAGTATCCTGAGAAGCCCACCAGCCGTGCCAACACTGTCCGCAGC
   361 TTCCACCACGAAGAGCACCTGGAGCAAGTGCCGGGTTCGGATCCCCGCCTGGGTCGCTTC
   421 CGCTTCTTCTTCAACCTGAGCAGCGTGCCGGCGGTTGAGGCCATCTCTACCGCAGAGCTA
   481 CGTCTCTTTCGTGAGCGGATCCCCGATGCTGCGGAGGACGACGAGGGTGACCTCCACCGG
   541 ATCAACATTTACGAGGTGATGAAGCCGTGGCGGGACGGGGAGGACCCGGTCACCCGGCTG
   601 CTGGACACTCGCCTGGTGCGCCACAACGTGAGCGGCTGGGAGAGCTTCGACGTCAGCCCA
   661 GCGGTGTCGCGATGGACGGCGGGCGGTCAGCCCAACCACGGCTTGGCGGTGGAAGCCCTC
   721 CACCTCCACCCCAAGCAGACTCACCAGGGCCGGCACGTCCGGATGAGCCGCTCTTTACCT
   781 CAAGGCGGGGGGCGCCTAGAGGACGGCGCTTGGGCCCACCTCCGTCCACTTCTGGTGACT
   841 TTTGGCCACGACGGTCCCAGTGGCTCGGCCCTGACGCGGCGCCGGAGGGCCAAGCGGAGC
   901 CCCAAAGGACCCGGAGGCTCCGGCGGGCGGGCACAACGCAAGGGCAAGAAGAACTGCCGG
   961 CGCCATGCCCTCTATGTGGACTTCAGTGACGTGGGCTGGAACGATTGGATTGTGGCTCCG
  1021 CCGGGCTACCAAGCCTTCTACTGCCACGGCGACTGCCCCTTCCCCTTGGCCGACCACCTC
  1081 AACTCCACCAACCACGCCATCGTCCAGACGCTGGTCAACTCCGTCAACGGCAGCATCCCC
  1141 AAGGCGTGCTGCGTGCCCACCGAGCTGAGCGCCATCTCCATGCTCTATTTGGACGAGTAC
  1201 GACAAGGTGGTCCTCAAGAACTACCAGGAGATGGTGGTCGAAGGATGCGGGTGCCGTTGA

Predicted Protein Product
MTPGNRMLMVLLLCQVLLGGTTHRASLIPTEIGKKKGVGGSSTGSSRRPLPSHELLRGFE
ATLLQMFGLRHRPRPSPAALVPSYMLDLYRLQSGEGEDRLHDLSLQYPEKPTSRANTVRS
FHHEEHLEQVPGSDPRLGRFRFFFNLSSVPAVEAISTAELRLFRERIPDAAEDDEGDLHR
INIYEVMKPWRDGEDPVTRLLDTRLVRHNVSGWESFDVSPAVSRWTAGGQPNHGLAVEAL
HLHPKQTHQGRHVRMSRSLPQGGGRLEDGAWAHLRPLLVTFGHDGPSGSALTRRRRAKRS
PKGPGGSGGRAQRKGKKNCRRHALYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHL
NSTNHAIVQTLVNSVNGSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR
Protein Alignment to Mouse
sp|P21275|BMP4_MOUSE Bone morphogenetic protein 4 OS=Mus musculus GN=Bmp4 PE=1
            SV=2
      MGI:88180 Bmp4 bone morphogenetic protein 4 (Chr 14)
        Length = 408

 Score = 1360 (483.8 bits), Expect = 1.1e-139, P = 1.1e-139
 Identities = 279/423 (65%), Positives = 304/423 (71%)

Query:     1 MTPGNRXXXXXXXXXXXXGGTTHRASLIPTEIXXXXXXXXXXXXXXRRPLPSHELLRGFE 60
             M PGNR            GG +H ASLIP E               RR   SHELLR FE
Sbjct:     1 MIPGNRMLMVVLLCQVLLGGASH-ASLIP-ETGKKKVAEIQGHAGGRRSGQSHELLRDFE 58

Query:    61 ATLLQMFGLRHRPRPSPAALVPSYMLDLYRLQSGEGED--RLHDLSLQYPEKPTSRANTV 118
             ATLLQMFGLR RP+PS +A++P YM DLYRLQSGE E+  +     L+YPE+P SRANTV
Sbjct:    59 ATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEEQSQGTGLEYPERPASRANTV 118

Query:   119 RSFHHEEHLEQVPGSDPRLGRFRFFFNLSSVPAVEAISTAELRLFRERIPDAAEDDEGDL 178
             RSFHHEEHLE +PG+      FRF FNLSS+P  E IS+AELRLFRE++ D   D E   
Sbjct:   119 RSFHHEEHLENIPGTSES-SAFRFLFNLSSIPENEVISSAELRLFREQV-DQGPDWEQGF 176

Query:   179 HRINIYEVMKPWRDGEDP--VTRLLDTRLVRHNVSGWESFDVSPAVSRWTAGGQPNHGLA 236
             HRINIYEVMKP  +      +TRLLDTRLV HNV+ WE+FDVSPAV RWT   QPN+GLA
Sbjct:   177 HRINIYEVMKPPAEMVPGHLITRLLDTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLA 236

Query:   237 VEALHLHPKQTHQGRHVRMSRSLPQGGGRLEDGAWAHLRPLLVTFGHDGPSGSALTRRRR 296
             +E  HLH  +THQG+HVR+SRSLPQG G   D  WA LRPLLVTFGHDG  G  LTRRR 
Sbjct:   237 IEVTHLHQTRTHQGQHVRISRSLPQGSG---D--WAQLRPLLVTFGHDG-RGHTLTRRR- 289

Query:   297 XXXXXXXXXXXXXXXXXXXXXNCRRHALYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPL 356
                                  NCRRH+LYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPL
Sbjct:   290 ----AKRSPKHHPQRSRKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPL 345

Query:   357 ADHLNSTNHAIVQTLVNSVNGSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGC 416
             ADHLNSTNHAIVQTLVNSVN SIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGC
Sbjct:   346 ADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGC 405

Query:   417 GCR 419
             GCR
Sbjct:   406 GCR 408