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P35548

- MSX2_HUMAN

UniProt

P35548 - MSX2_HUMAN

Protein

Homeobox protein MSX-2

Gene

MSX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi142 – 20160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity Source: Ensembl
    4. sequence-specific DNA binding Source: MGI
    5. transcription cofactor activity Source: BHF-UCL
    6. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. activation of meiosis Source: Ensembl
    2. anagen Source: Ensembl
    3. anterior/posterior pattern specification Source: Ensembl
    4. BMP signaling pathway involved in heart development Source: Ensembl
    5. bone trabecula formation Source: Ensembl
    6. branching involved in mammary gland duct morphogenesis Source: Ensembl
    7. cellular response to estradiol stimulus Source: Ensembl
    8. cellular response to growth factor stimulus Source: Ensembl
    9. chondrocyte development Source: Ensembl
    10. cranial suture morphogenesis Source: BHF-UCL
    11. embryonic forelimb morphogenesis Source: Ensembl
    12. embryonic hindlimb morphogenesis Source: Ensembl
    13. embryonic nail plate morphogenesis Source: Ensembl
    14. enamel mineralization Source: Ensembl
    15. endochondral bone growth Source: Ensembl
    16. epithelial to mesenchymal transition involved in endocardial cushion formation Source: Ensembl
    17. frontal suture morphogenesis Source: Ensembl
    18. negative regulation of apoptotic process Source: Ensembl
    19. negative regulation of cell proliferation Source: Ensembl
    20. negative regulation of CREB transcription factor activity Source: Ensembl
    21. negative regulation of fat cell differentiation Source: Ensembl
    22. negative regulation of keratinocyte differentiation Source: Ensembl
    23. negative regulation of transcription, DNA-templated Source: UniProtKB
    24. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    25. negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
    26. osteoblast development Source: Ensembl
    27. osteoblast differentiation Source: UniProtKB
    28. outflow tract septum morphogenesis Source: Ensembl
    29. positive regulation of BMP signaling pathway Source: Ensembl
    30. positive regulation of catagen Source: Ensembl
    31. positive regulation of mesenchymal cell apoptotic process Source: Ensembl
    32. positive regulation of osteoblast differentiation Source: Ensembl
    33. signal transduction involved in regulation of gene expression Source: Ensembl
    34. wound healing, spreading of epidermal cells Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Osteogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein MSX-2
    Alternative name(s):
    Homeobox protein Hox-8
    Gene namesi
    Name:MSX2
    Synonyms:HOX8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:7392. MSX2.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Parietal foramina 1 (PFM1) [MIM:168500]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541L → P in PFM1. 1 Publication
    VAR_010786
    Natural varianti159 – 1602Missing in PFM1; loss of function.
    VAR_010200
    Natural varianti172 – 1721R → H in PFM1; loss of function. 2 Publications
    VAR_010201
    Parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]: Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Craniosynostosis 2 (CRS2) [MIM:604757]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481P → H in CRS2; gain of function. 1 Publication
    VAR_003755

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi147 – 1471T → A: Does not bind DNA but still suppresses OCFRE activation. 1 Publication

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi168500. phenotype.
    168550. phenotype.
    604757. phenotype.
    Orphaneti1541. Craniosynostosis, Boston type.
    60015. Parietal foramina.
    251290. Parietal foramina with cleidocranial dysplasia.
    PharmGKBiPA31197.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 267267Homeobox protein MSX-2PRO_0000049099Add
    BLAST

    Proteomic databases

    MaxQBiP35548.
    PaxDbiP35548.
    PRIDEiP35548.

    PTM databases

    PhosphoSiteiP35548.

    Expressioni

    Gene expression databases

    ArrayExpressiP35548.
    BgeeiP35548.
    CleanExiHS_MSX2.
    GenevestigatoriP35548.

    Organism-specific databases

    HPAiHPA005652.

    Interactioni

    Subunit structurei

    Interacts with MINT By similarity. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80).By similarity1 Publication

    Protein-protein interaction databases

    BioGridi110594. 21 interactions.
    IntActiP35548. 1 interaction.
    STRINGi9606.ENSP00000239243.

    Structurei

    3D structure databases

    ProteinModelPortaliP35548.
    SMRiP35548. Positions 143-200.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Msh homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG298790.
    HOGENOMiHOG000231922.
    HOVERGENiHBG005205.
    InParanoidiP35548.
    KOiK09341.
    OMAiPPKEMSS.
    OrthoDBiEOG70GMGK.
    PhylomeDBiP35548.
    TreeFamiTF350699.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P35548-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASPSKGNDL FSPDEEGPAV VAGPGPGPGG AEGAAEERRV KVSSLPFSVE    50
    ALMSDKKPPK EASPLPAESA SAGATLRPLL LSGHGAREAH SPGPLVKPFE 100
    TASVKSENSE DGAAWMQEPG RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT 150
    TSQLLALERK FRQKQYLSIA ERAEFSSSLN LTETQVKIWF QNRRAKAKRL 200
    QEAELEKLKM AAKPMLPSSF SLPFPISSPL QAASIYGASY PFHRPVLPIP 250
    PVGLYATPVG YGMYHLS 267
    Length:267
    Mass (Da):28,897
    Last modified:November 2, 2010 - v3
    Checksum:i5B61B75F4A7C4AFD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281P → L in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti32 – 321E → A in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti62 – 654ASPL → SPAV in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti67 – 671A → P in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti69 – 691S → G in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti75 – 751T → H in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti85 – 851G → R in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti107 – 1071E → G in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti194 – 1941R → S in CAA49156. (PubMed:8101453)Curated
    Sequence conflicti237 – 2371G → A in CAA49156. (PubMed:8101453)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti129 – 1291M → T.8 Publications
    Corresponds to variant rs4242182 [ dbSNP | Ensembl ].
    VAR_010898
    Natural varianti148 – 1481P → H in CRS2; gain of function. 1 Publication
    VAR_003755
    Natural varianti154 – 1541L → P in PFM1. 1 Publication
    VAR_010786
    Natural varianti159 – 1602Missing in PFM1; loss of function.
    VAR_010200
    Natural varianti172 – 1721R → H in PFM1; loss of function. 2 Publications
    VAR_010201

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69295 mRNA. Translation: CAA49156.1.
    L22499, L22498 Genomic DNA. Translation: AAB42178.1.
    S75308 Genomic DNA. Translation: AAD14169.1.
    S75361 mRNA. Translation: AAB33867.1.
    D31771 mRNA. Translation: BAA06549.1.
    D89377 mRNA. Translation: BAA13949.1.
    BT009814 mRNA. Translation: AAP88816.1.
    AC117531 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61381.1.
    CH471062 Genomic DNA. Translation: EAW61382.1.
    BC015509 mRNA. Translation: AAH15509.1.
    D14970 mRNA. Translation: BAA03611.1.
    CCDSiCCDS4392.1.
    PIRiA49068.
    RefSeqiNP_002440.2. NM_002449.4.
    XP_006714931.1. XM_006714868.1.
    UniGeneiHs.89404.

    Genome annotation databases

    EnsembliENST00000239243; ENSP00000239243; ENSG00000120149.
    GeneIDi4488.
    KEGGihsa:4488.
    UCSCiuc003mcy.3. human.

    Polymorphism databases

    DMDMi311033429.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X69295 mRNA. Translation: CAA49156.1 .
    L22499 , L22498 Genomic DNA. Translation: AAB42178.1 .
    S75308 Genomic DNA. Translation: AAD14169.1 .
    S75361 mRNA. Translation: AAB33867.1 .
    D31771 mRNA. Translation: BAA06549.1 .
    D89377 mRNA. Translation: BAA13949.1 .
    BT009814 mRNA. Translation: AAP88816.1 .
    AC117531 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61381.1 .
    CH471062 Genomic DNA. Translation: EAW61382.1 .
    BC015509 mRNA. Translation: AAH15509.1 .
    D14970 mRNA. Translation: BAA03611.1 .
    CCDSi CCDS4392.1.
    PIRi A49068.
    RefSeqi NP_002440.2. NM_002449.4.
    XP_006714931.1. XM_006714868.1.
    UniGenei Hs.89404.

    3D structure databases

    ProteinModelPortali P35548.
    SMRi P35548. Positions 143-200.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110594. 21 interactions.
    IntActi P35548. 1 interaction.
    STRINGi 9606.ENSP00000239243.

    PTM databases

    PhosphoSitei P35548.

    Polymorphism databases

    DMDMi 311033429.

    Proteomic databases

    MaxQBi P35548.
    PaxDbi P35548.
    PRIDEi P35548.

    Protocols and materials databases

    DNASUi 4488.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000239243 ; ENSP00000239243 ; ENSG00000120149 .
    GeneIDi 4488.
    KEGGi hsa:4488.
    UCSCi uc003mcy.3. human.

    Organism-specific databases

    CTDi 4488.
    GeneCardsi GC05P174084.
    GeneReviewsi MSX2.
    H-InvDB HIX0005431.
    HGNCi HGNC:7392. MSX2.
    HPAi HPA005652.
    MIMi 123101. gene.
    168500. phenotype.
    168550. phenotype.
    604757. phenotype.
    neXtProti NX_P35548.
    Orphaneti 1541. Craniosynostosis, Boston type.
    60015. Parietal foramina.
    251290. Parietal foramina with cleidocranial dysplasia.
    PharmGKBi PA31197.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG298790.
    HOGENOMi HOG000231922.
    HOVERGENi HBG005205.
    InParanoidi P35548.
    KOi K09341.
    OMAi PPKEMSS.
    OrthoDBi EOG70GMGK.
    PhylomeDBi P35548.
    TreeFami TF350699.

    Miscellaneous databases

    GeneWikii Msh_homeobox_2.
    GenomeRNAii 4488.
    NextBioi 17363.
    PROi P35548.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35548.
    Bgeei P35548.
    CleanExi HS_MSX2.
    Genevestigatori P35548.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells."
      Hodgkinson J.E., Davidson C.L., Beresford J., Sharpe P.T.
      Biochim. Biophys. Acta 1174:11-16(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-129.
      Tissue: Osteoblast.
    2. "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis."
      Jabs E.W., Ma L., Li X., Mueller U., Sparkes R.S., Luo W., Jackson C.E., Warman M.L., Mulliken J.B., Snead M., Haworth I., Maxson R.E.
      Cell 75:443-450(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-129 AND CRS2 HIS-148.
    3. "Molecular cloning and expression of homeobox-containing genes during hard tissue development."
      Iimura T.
      Kokubyo Gakkai Zasshi 61:590-604(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT THR-129.
    4. "Characterization of two length cDNA for human MSX-2 from dental pulp-derived cells."
      Iimura T., Takeda K., Goseki M., Maruoka Y., Sasaki S., Oida S.
      DNA Seq. 8:87-92(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Tooth.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-129.
    6. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-129.
    8. "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], VARIANT THR-129.
      Tissue: Pancreas.
    9. "Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors."
      Suzuki M., Tanaka M., Iwase T., Naito Y., Sugimura H., Kino I.
      Biochem. Biophys. Res. Commun. 194:187-193(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-267, VARIANT THR-129.
      Tissue: Ovary tumor.
    10. "Identification of homeobox genes expressed in human haemopoietic progenitor cells."
      Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M., D'Andrea R.
      Gene 144:213-219(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 150-188.
      Tissue: Bone marrow.
    11. "Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex."
      Willis D.M., Loewy A.P., Charlton-Kachigian N., Shao J.-S., Ornitz D.M., Towler D.A.
      J. Biol. Chem. 277:37280-37291(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH XRCC6 AND XRCC5, MUTAGENESIS OF THR-147.
      Tissue: Osteoblast.
    12. Cited for: INVOLVEMENT IN PFMCCD.
    13. "Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna."
      Wuyts W., Reardon W., Preis S., Homfray T., Rasore-Quartino A., Christians H., Willems P.J., Van Hul W.
      Hum. Mol. Genet. 9:1251-1255(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PFM1 PRO-154 AND HIS-172.
    14. "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification."
      Wilkie A.O.M., Tang Z., Elanko N., Walsh S., Twigg S.R.F., Hurst J.A., Wall S.A., Chrzanowska K.H., Maxson R.E. Jr.
      Nat. Genet. 24:387-390(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PFM1 159-ARG-LYS-160 DEL AND HIS-172, VARIANT THR-129.

    Entry informationi

    Entry nameiMSX2_HUMAN
    AccessioniPrimary (citable) accession number: P35548
    Secondary accession number(s): D3DQN1, Q53XM4, Q9UD60
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 148 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3