Q86SQ4 (GP126_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: G-protein coupled receptor 126 Alternative name(s): Developmentally regulated G-protein-coupled receptor Vascular inducible G protein-coupled receptor | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1221 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein. Note: Detected on the cell surface of activated but not resting umbilical vein. Ref.1 Ref.2 |
| Tissue specificity | Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic endothelial cells but not in skin microvascular endothelial cells. Ref.1 |
| Induction | Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli in primary umbilical veins. Ref.1 |
| Post-translational modification | Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site. Ref.2 |
| Polymorphism | Genetic variations in GPR126 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits. |
| Sequence similarities | Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 1 CUB domain. Contains 1 GPS domain. Contains 1 pentaxin domain. |
| Sequence caution | The sequence AAO13250.1 differs from that shown. Reason: Sequencing errors. The sequence BAB55406.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC11393.1 differs from that shown. Reason: Erroneous initiation. The sequence CAE45930.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI20053.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal Transmembrane Transmembrane helix |
| Molecular function | G-protein coupled receptor Receptor Transducer |
| PTM | Disulfide bond Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | neuropeptide signaling pathway Inferred from electronic annotation. Source: InterPro |
| Cellular_component | integral to membrane Traceable author statement PubMed 15203201. Source: GDB plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | G-protein coupled receptor activity Traceable author statement PubMed 15203201. Source: GDB |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q86SQ4-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q86SQ4-2) The sequence of this isoform differs from the canonical sequence as follows: 380-407: Missing. | ||||||
| Isoform 3 (identifier: Q86SQ4-3) The sequence of this isoform differs from the canonical sequence as follows: 1193-1221: NVSYEHSFNKSGSLRQCFHGQVLVKTGPC → SASMDKSLSK...SDTFSHSTKF | ||||||
| Isoform 4 (identifier: Q86SQ4-4) The sequence of this isoform differs from the canonical sequence as follows: 380-407: Missing. 1193-1221: NVSYEHSFNKSGSLRQCFHGQVLVKTGPC → SASMDKSLSK...SDTFSHSTKF |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 37 | 37 | Potential | ||||||||
| Chain | 38 – 1221 | 1184 | G-protein coupled receptor 126 | PRO_0000012902 | |||||||
Regions | |||||||||||
| Topological domain | 38 – 862 | 825 | Extracellular Potential | ||||||||
| Transmembrane | 863 – 883 | 21 | Helical; Name=1; Potential | ||||||||
| Topological domain | 884 – 903 | 20 | Cytoplasmic Potential | ||||||||
| Transmembrane | 904 – 924 | 21 | Helical; Name=2; Potential | ||||||||
| Topological domain | 925 – 929 | 5 | Extracellular Potential | ||||||||
| Transmembrane | 930 – 950 | 21 | Helical; Name=3; Potential | ||||||||
| Topological domain | 951 – 970 | 20 | Cytoplasmic Potential | ||||||||
| Transmembrane | 971 – 991 | 21 | Helical; Name=4; Potential | ||||||||
| Topological domain | 992 – 1024 | 33 | Extracellular Potential | ||||||||
| Transmembrane | 1025 – 1045 | 21 | Helical; Name=5; Potential | ||||||||
| Topological domain | 1046 – 1069 | 24 | Cytoplasmic Potential | ||||||||
| Transmembrane | 1070 – 1090 | 21 | Helical; Name=6; Potential | ||||||||
| Topological domain | 1091 – 1092 | 2 | Extracellular Potential | ||||||||
| Transmembrane | 1093 – 1113 | 21 | Helical; Name=7; Potential | ||||||||
| Topological domain | 1114 – 1221 | 108 | Cytoplasmic Potential | ||||||||
| Domain | 41 – 149 | 109 | CUB | ||||||||
| Domain | 150 – 355 | 206 | Pentaxin | ||||||||
| Domain | 800 – 852 | 53 | GPS | ||||||||
| Compositional bias | 1153 – 1205 | 53 | Ser-rich | ||||||||
Sites | |||||||||||
| Site | 467 – 468 | 2 | Cleavage; by furin like-convertase | ||||||||
| Site | 840 – 841 | 2 | Cleavage | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 1165 | 1 | Phosphoserine Ref.12 | ||||||||
| Glycosylation | 121 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 143 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||||
| Glycosylation | 206 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 258 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 314 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 324 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||||
| Glycosylation | 353 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 438 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||||
| Glycosylation | 445 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||||
| Glycosylation | 452 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 485 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 488 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 505 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 563 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 593 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 600 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 605 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 667 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 673 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 695 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 704 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 750 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 776 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 811 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 818 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 41 ↔ 67 | By similarity | |||||||||
| Disulfide bond | 94 ↔ 111 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 380 – 407 | 28 | Missing in isoform 2 and isoform 4. | VSP_010747 | |||||||
| Alternative sequence | 1193 – 1221 | 29 | NVSYE…KTGPC → SASMDKSLSKLAHADGDQTS IIPVHQVIDKVKGYCNAHSD NFYKNIIMSDTFSHSTKF in isoform 3 and isoform 4. | VSP_010748 | |||||||
| Natural variant | 123 | 1 | S → G. Corresponds to variant rs17280293 [ dbSNP | Ensembl ]. | VAR_054128 | |||||||
| Natural variant | 230 | 1 | K → Q. Ref.5 Corresponds to variant rs11155242 [ dbSNP | Ensembl ]. | VAR_024478 | |||||||
| Natural variant | 1127 | 1 | Q → R. Ref.2 Ref.3 Ref.5 Ref.6 Ref.7 Ref.8 Corresponds to variant rs1262686 [ dbSNP | Ensembl ]. | VAR_054129 | |||||||
Experimental info | |||||||||||
| Mutagenesis | 468 | 1 | R → A: No cleavage. | ||||||||
| Mutagenesis | 469 | 1 | S → A: No effect on cleavage. | ||||||||
| Mutagenesis | 803 | 1 | C → S: No cleavage and not detected at the cell surface. Ref.2 | ||||||||
| Mutagenesis | 822 | 1 | C → S: No cleavage and not detected at the cell surface. Ref.2 | ||||||||
| Mutagenesis | 835 | 1 | C → S: No cleavage and not detected at the cell surface. Ref.2 | ||||||||
| Mutagenesis | 837 | 1 | C → S: No cleavage and not detected at the cell surface. Ref.2 | ||||||||
| Mutagenesis | 841 | 1 | T → A: No cleavage but detected at cell surface. Ref.2 | ||||||||
| Mutagenesis | 841 | 1 | T → P: No cleavage and not detected the cell surface. Ref.2 | ||||||||
| Sequence conflict | 622 | 1 | N → S in CAE45986. Ref.3 | ||||||||
| Sequence conflict | 623 | 1 | I → V in CAE45930. Ref.3 | ||||||||
| Sequence conflict | 708 | 1 | F → S in CAE45986. Ref.3 | ||||||||
| Sequence conflict | 763 | 1 | K → Q in CAE45930. Ref.3 | ||||||||
| Sequence conflict | 908 | 1 | L → P in AAH75798. Ref.5 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "VIGR -- a novel inducible adhesion family G-protein coupled receptor in endothelial cells." Stehlik C., Kroismayr R., Dorfleutner A., Binder B.R., Lipp J. FEBS Lett. 569:149-155(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INDUCTION, GLYCOSYLATION. Tissue: Vein. |
| [2] | "DREG, a developmentally regulated G protein-coupled receptor containing two conserved proteolytic cleavage sites." Moriguchi T., Haraguchi K., Ueda N., Okada M., Furuya T., Akiyama T. Genes Cells 9:549-560(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), PROTEIN SEQUENCE OF 469-483 AND 841-845, SUBCELLULAR LOCATION, MUTAGENESIS OF CYS-803; CYS-822; CYS-835; CYS-837 AND THR-841, PROTEOLYTIC PROCESSING, CLEAVAGE BY FURIN-LIKE CONVERTASE, VARIANT ARG-1127. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-1127. Tissue: Uterus. |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANTS GLN-230 AND ARG-1127. Tissue: Placenta. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 646-1221, VARIANT ARG-1127. Tissue: Placenta. |
| [7] | "There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini." Fredriksson R., Gloriam D.E.I., Hoeglund P.J., Lagerstroem M.C., Schioeth H.B. Biochem. Biophys. Res. Commun. 301:725-734(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 710-1221 (ISOFORM 3), VARIANT ARG-1127. |
| [8] | Ji D., Cheng J., Wang J., Dong J., Yang Q., Dang X., Liu Y. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1032-1221, VARIANT ARG-1127. |
| [9] | "A proteomic analysis of human bile." Kristiansen T.Z., Bunkenborg J., Gronborg M., Molina H., Thuluvath P.J., Argani P., Goggins M.G., Maitra A., Pandey A. Mol. Cell. Proteomics 3:715-728(2004) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-324, MASS SPECTROMETRY. Tissue: Bile. |
| [10] | "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-143; ASN-438 AND ASN-445, MASS SPECTROMETRY. Tissue: Plasma. |
| [11] | "Identification of ten loci associated with height highlights new biological pathways in human growth." Lettre G., Jackson A.U., Gieger C., Schumacher F.R., Berndt S.I., Sanna S., Eyheramendy S., Voight B.F., Butler J.L., Guiducci C., Illig T., Hackett R., Heid I.M., Jacobs K.B., Lyssenko V., Uda M., Boehnke M., Chanock S.J. Hirschhorn J.N.Nat. Genet. 40:584-591(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN STATURE AS A QUANTITATIVE TRAIT. |
| [12] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1165, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF216967 mRNA. Translation: AAO13250.1. Sequence problems. AB183546 mRNA. Translation: BAD27571.1. AB183547 mRNA. Translation: BAD27572.1. AB183548 mRNA. Translation: BAD27573.1. AB183549 mRNA. Translation: BAD27574.1. BX640971 mRNA. Translation: CAE45986.1. BX640873 mRNA. Translation: CAE45930.1. Different initiation. AL033377 Genomic DNA. Translation: CAI20053.1. Sequence problems. AL360007 Genomic DNA. No translation available. BC075798 mRNA. Translation: AAH75798.1. AK027843 mRNA. Translation: BAB55406.1. Different initiation. AK075087 mRNA. Translation: BAC11393.1. Different initiation. AY181244 mRNA. Translation: AAO27356.1. AY426673 mRNA. Translation: AAR88427.1. |
| IPI | IPI00217481. IPI00423340. IPI00423342. IPI00651770. |
| RefSeq | NP_001027566.1. NM_001032394.2. NP_001027567.1. NM_001032395.2. NP_065188.4. NM_020455.5. NP_940971.1. NM_198569.2. |
| UniGene | Hs.318894. |
3D structure databases | |
| ProteinModelPortal | Q86SQ4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000356581. |
Protein family/group databases | |
| MEROPS | S63.020. |
| GPCRDB | Search... |
PTM databases | |
| PhosphoSite | Q86SQ4. |
Polymorphism databases | |
| DMDM | 215274152. |
Proteomic databases | |
| PaxDb | Q86SQ4. |
| PRIDE | Q86SQ4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000230173; ENSP00000230173; ENSG00000112414. ENST00000296932; ENSP00000296932; ENSG00000112414. ENST00000367608; ENSP00000356580; ENSG00000112414. ENST00000367609; ENSP00000356581; ENSG00000112414. |
| GeneID | 57211. |
| KEGG | hsa:57211. |
| UCSC | uc010khc.3. human. uc010khd.3. human. uc010khe.3. human. uc010khf.3. human. |
Organism-specific databases | |
| CTD | 57211. |
| GeneCards | GC06P142622. |
| HGNC | HGNC:13841. GPR126. |
| HPA | HPA017346. |
| MIM | 606255. phenotype. 612243. gene. |
| neXtProt | NX_Q86SQ4. |
| PharmGKB | PA134878328. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOVERGEN | HBG051778. |
| KO | K08463. |
| OMA | HQVIDKV. |
Gene expression databases | |
| ArrayExpress | Q86SQ4. |
| Bgee | Q86SQ4. |
| CleanEx | HS_GPR126. |
| Genevestigator | Q86SQ4. |
| GermOnline | ENSG00000112414. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.120.200. 1 hit. 2.60.120.290. 1 hit. |
| InterPro | IPR008985. ConA-like_lec_gl_sf. IPR013320. ConA-like_subgrp. IPR000859. CUB_dom. IPR017981. GPCR_2-like. IPR000832. GPCR_2_secretin-like. IPR017983. GPCR_2_secretin-like_CS. IPR000203. GPS_dom. IPR001759. Pentaxin. [Graphical view] |
| Pfam | PF00002. 7tm_2. 1 hit. PF00431. CUB. 1 hit. PF01825. GPS. 1 hit. PF00354. Pentaxin. 1 hit. [Graphical view] |
| PRINTS | PR00249. GPCRSECRETIN. |
| SMART | SM00042. CUB. 1 hit. SM00303. GPS. 1 hit. [Graphical view] |
| SUPFAM | SSF49899. ConA_like_lec_gl. 1 hit. SSF49854. CUB. 1 hit. |
| PROSITE | PS01180. CUB. 1 hit. PS00649. G_PROTEIN_RECEP_F2_1. False negative. PS00650. G_PROTEIN_RECEP_F2_2. 1 hit. PS50227. G_PROTEIN_RECEP_F2_3. False negative. PS50261. G_PROTEIN_RECEP_F2_4. 1 hit. PS50221. GPS. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57211. |
| NextBio | 63312. |
| SOURCE | Search... |
Entry information
| Entry name | GP126_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86SQ4 Secondary accession number(s): Q5TGN7 Q96JW0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| 7-transmembrane G-linked receptors List of 7-transmembrane G-linked receptor entries |
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
