Details for: BMP6

Gene ID: 654

Symbol: BMP6

Ensembl ID: ENSG00000153162

Description: bone morphogenetic protein 6

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.3
    Marker Score: 1135
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.65
    Marker Score: 24606
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1165
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169112
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.4
    Marker Score: 837
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.37
    Marker Score: 1368
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 851
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.19
    Marker Score: 2418
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.18
    Marker Score: 1429
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.17
    Marker Score: 1350
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 485
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4804
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 501
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.08
    Marker Score: 11197
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.04
    Marker Score: 473
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.01
    Marker Score: 1472
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.95
    Marker Score: 298
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14787
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5325
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 372
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.91
    Marker Score: 5445
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.82
    Marker Score: 6307
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 599
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.7
    Marker Score: 422
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.7
    Marker Score: 222
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.67
    Marker Score: 302
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.62
    Marker Score: 10926
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.61
    Marker Score: 1442
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.55
    Marker Score: 176
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.54
    Marker Score: 152
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.53
    Marker Score: 254
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.52
    Marker Score: 558
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.48
    Marker Score: 124
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.47
    Marker Score: 114
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.45
    Marker Score: 199
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.44
    Marker Score: 1712
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.42
    Marker Score: 473
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.4
    Marker Score: 117
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.4
    Marker Score: 105
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.39
    Marker Score: 1201
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.38
    Marker Score: 95
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.38
    Marker Score: 3276
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.38
    Marker Score: 338
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.38
    Marker Score: 7475
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.37
    Marker Score: 90
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.37
    Marker Score: 209
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.32
    Marker Score: 12212
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.3
    Marker Score: 795.5
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.29
    Marker Score: 167
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.28
    Marker Score: 193
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.28
    Marker Score: 9608
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.28
    Marker Score: 117
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.28
    Marker Score: 299
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.27
    Marker Score: 939
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.27
    Marker Score: 77
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.27
    Marker Score: 97
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.26
    Marker Score: 467
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.26
    Marker Score: 422
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.26
    Marker Score: 69
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.26
    Marker Score: 132
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.26
    Marker Score: 1205
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.26
    Marker Score: 234.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.25
    Marker Score: 271.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.24
    Marker Score: 286
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.24
    Marker Score: 109
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 0.24
    Marker Score: 205
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.23
    Marker Score: 211
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.23
    Marker Score: 447
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.23
    Marker Score: 528
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.23
    Marker Score: 96
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.23
    Marker Score: 428
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.22
    Marker Score: 297
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.22
    Marker Score: 410
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.21
    Marker Score: 56
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.21
    Marker Score: 212
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.21
    Marker Score: 58
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.21
    Marker Score: 213
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.2
    Marker Score: 116
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.2
    Marker Score: 89

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * BMP6 is a member of the BMP family of growth factors. * It is a secreted protein that is produced by and acts on various cell types. * BMP6 is known to be a key regulator of endochondral ossification, a process involved in the formation of bones and cartilage. * It is also involved in eye development, immune response, and tissue development. **Pathways and functions:** * BMP6 binds to BMP receptors on target cells and activates them. * This signaling cascade leads to the phosphorylation of target proteins, which ultimately modulates cellular processes such as cell proliferation, differentiation, and survival. * BMP6 is also involved in the regulation of angiogenesis, cell migration, and tissue repair. **Clinical significance:** * Mutations in BMP6 have been linked to various human diseases, including cardiovascular disease, cancer, and developmental disorders. * BMP6 inhibitors are being investigated as potential therapeutics for these diseases. **Other relevant information:** * BMP6 is a highly conserved protein with sequences found in mammals, birds, and fish. * It is produced by various cell types, including endothelial cells, epithelial cells, and immune cells. * BMP6 is a well-known target for therapeutic interventions in various diseases.

Genular Protein ID: 3180919326

Symbol: BMP6_HUMAN

Name: Bone morphogenetic protein 6

UniProtKB Accession Codes:

P22004 Q5TCP3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 EvolutionaryTrace 1 GO 48 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 4 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2263636

Title: Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone.

PubMed ID: 2263636

DOI: 10.1073/pnas.87.24.9843

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 33021694

Title: BMP6/TAZ-Hippo signaling modulates angiogenesis and endothelial cell response to VEGF.

PubMed ID: 33021694

DOI: 10.1007/s10456-020-09748-4

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 30097509

Title: Erythroferrone inhibits the induction of hepcidin by BMP6.

PubMed ID: 30097509

DOI: 10.1182/blood-2018-06-857995

PubMed ID: 31800957

Title: Erythroferrone lowers hepcidin by sequestering BMP2/6 heterodimer from binding to the BMP type I receptor ALK3.

PubMed ID: 31800957

DOI: 10.1182/blood.2019002620

PubMed ID: 17924656

Title: BMP-3 and BMP-6 structures illuminate the nature of binding specificity with receptors.

PubMed ID: 17924656

DOI: 10.1021/bi700907k

PubMed ID: 18070108

Title: Type I receptor binding of bone morphogenetic protein 6 is dependent on N-glycosylation of the ligand.

PubMed ID: 18070108

DOI: 10.1111/j.1742-4658.2007.06187.x

PubMed ID: 31019025

Title: A BMP/activin A chimera is superior to native BMPs and induces bone repair in nonhuman primates when delivered in a composite matrix.

PubMed ID: 31019025

DOI: 10.1126/scitranslmed.aar4953

PubMed ID: 26582087

Title: Heterozygous Mutations in BMP6 pro-peptide lead to inappropriate hepcidin synthesis and moderate iron overload in humans.

PubMed ID: 26582087

DOI: 10.1053/j.gastro.2015.10.049

PubMed ID: 27591421

Title: Heterozygous BMP6 variants coupled with HFE variants.

PubMed ID: 27591421

DOI: 10.1053/j.gastro.2016.02.088

PubMed ID: 27590690

Title: The p.Leu96Pro missense mutation in the BMP6 gene is repeatedly associated with hyperferritinemia in patients of French origin.

PubMed ID: 27590690

DOI: 10.1053/j.gastro.2016.03.054

PubMed ID: 28335084

Title: Identification of new BMP6 pro-peptide mutations in patients with iron overload.

PubMed ID: 28335084

DOI: 10.1002/ajh.24730

PubMed ID: 32464486

Title: Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.

PubMed ID: 32464486

DOI: 10.1016/j.bcmd.2020.102444

PubMed ID: 31640930

Title: Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

PubMed ID: 31640930

DOI: 10.1016/j.clinre.2019.09.007

PubMed ID: 34037557

Title: Novel BMP6 gene mutation in patient with iron overload.

PubMed ID: 34037557

DOI: 10.1097/meg.0000000000001971

Sequence Information:

  • Length: 513
  • Mass: 57226
  • Checksum: 3F19155B36049278
  • Sequence:
    • MPGLGRRAQW LCWWWGLLCS CCGPPPLRPP LPAAAAAAAG GQLLGDGGSP GRTEQPPPSP 
QSSSGFLYRR LKTQEKREMQ KEILSVLGLP HRPRPLHGLQ QPQPPALRQQ EEQQQQQQLP 
RGEPPPGRLK SAPLFMLDLY NALSADNDED GASEGERQQS WPHEAASSSQ RRQPPPGAAH 
PLNRKSLLAP GSGSGGASPL TSAQDSAFLN DADMVMSFVN LVEYDKEFSP RQRHHKEFKF 
NLSQIPEGEV VTAAEFRIYK DCVMGSFKNQ TFLISIYQVL QEHQHRDSDL FLLDTRVVWA 
SEEGWLEFDI TATSNLWVVT PQHNMGLQLS VVTRDGVHVH PRAAGLVGRD GPYDKQPFMV 
AFFKVSEVHV RTTRSASSRR RQQSRNRSTQ SQDVARVSSA SDYNSSELKT ACRKHELYVS 
FQDLGWQDWI IAPKGYAANY CDGECSFPLN AHMNATNHAI VQTLVHLMNP EYVPKPCCAP 
TKLNAISVLY FDDNSNVILK KYRNMVVRAC GCH

Genular Protein ID: 1669008987

Symbol: Q4VBA3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q4VBA3

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 GO 2 Gene3D 2 GenomeRNAi 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 428
  • Mass: 47993
  • Checksum: 0D5F8FBC738462AE
  • Sequence:
    • DCSRQGPQRP RSGLAPPQPP ALRQQEEQQQ QQQLPRGEPP PGRLKSAPLF MLDLYNALSA 
DNDEDGASEG ERQQSWPHEA ASSSQRRQPP PGAAHPLNRK SLLAPGSGSG GASPLTSAQD 
SAFLNDADMV MSFVNLVEYD KEFSPRQRHH KEFKFNLSQI PEGEVVTAAE FRIYKDCVMG 
SFKNQTFLIS IYQVLQEHQH RDSDLFLLDT RVVWASEEGW LEFDITATSN LWVVTPQHNM 
GLQLSVVTRD GVHVHPRAAG LVGRDGPYDK QPFMVAFFKV SEVHVRTTRS ASSRRRQQSR 
NRSTQSQDVA RVSSASDYNS SELKTACRKH ELYVSFQDLG WQDWIIAPKG YAANYCDGEC 
SFPLNAHMNA TNHAIVQTLV HLMNPEYVPK PCCAPTKLNA ISVLYFDDNS NVILKKYRNM 
VVRACGCH

Genular Protein ID: 367785251

Symbol: B4DUF7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DUF7

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 2 GenomeRNAi 1 InterPro 5 KEGG 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 1 Pfam 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 435
  • Mass: 48916
  • Checksum: AA775335CFFF2924
  • Sequence:
    • MQKEILSVLG LPHRPRPLHG LQQPQPPALR QQEEQQQQQQ LPRGEPPPGR LKSAPLFMLD 
LYNALSADND EDGASEGERQ QSWPHEAASS SQRRQPPPGA AHPLNRKSLL APGSGSGGAS 
PLTSAQDSAF LNDADMVMSF VNLVEYDKEF SPRQRHHKEF KFNLSQIPEG EVVTAAEFRI 
YKDCVMGSFK NQTFLISIYQ VLQEHQHRDS DLFLLDTRVV WASEEGWLEF DITATSNLWV 
VTPQHNMGLQ LSVVTRDGVH VHPRAAGLVG RDGPYDKQPF MVAFFKVSEV HVRTTRSASS 
RRRQQSRNRS TQSQDVARVS SASDYNSSEL KTACRKHELY VSFQDLGWQD WIIAPKGYAA 
NYCDGECSFP LNAHMNATNH AIVQTLVHLM NPEYVPKPCC APTKLNAISV LYFDDNSNVI 
LKKYRNMVVR ACGCH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.