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Q9Y458

- TBX22_HUMAN

UniProt

Q9Y458 - TBX22_HUMAN

Protein

T-box transcription factor TBX22

Gene

TBX22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 3 (12 Feb 2003)
      Previous versions | rss
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    Functioni

    Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi96 – 283188T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: BHF-UCL
    2. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB
    2. negative regulation of transcription, DNA-templated Source: BHF-UCL
    3. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    4. regulation of transcription, DNA-templated Source: UniProtKB
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX22
    Short name:
    T-box protein 22
    Gene namesi
    Name:TBX22
    Synonyms:TBOX22
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:11600. TBX22.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti118 – 1181G → C in CPX. 1 Publication
    VAR_015383
    Natural varianti121 – 1211M → V in CPX. 1 Publication
    VAR_021831
    Natural varianti183 – 1831P → L in CPX. 1 Publication
    VAR_021832
    Natural varianti195 – 1951S → SS in CPX. 1 Publication
    VAR_069900
    Natural varianti214 – 2141L → P in CPX. 1 Publication
    VAR_021829
    Natural varianti260 – 2601T → M in CPX. 1 Publication
    VAR_015384
    Natural varianti264 – 2641N → Y in CPX. 1 Publication
    Corresponds to variant rs28935177 [ dbSNP | Ensembl ].
    VAR_021830
    Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Disease mutation, Dwarfism

    Organism-specific databases

    MIMi302905. phenotype.
    303400. phenotype.
    Orphaneti921. Abruzzo-Erickson syndrome.
    324601. X-linked cleft palate and ankyloglossia.
    PharmGKBiPA36363.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520T-box transcription factor TBX22PRO_0000184455Add
    BLAST

    Proteomic databases

    PaxDbiQ9Y458.
    PRIDEiQ9Y458.

    PTM databases

    PhosphoSiteiQ9Y458.

    Expressioni

    Tissue specificityi

    Seems to be expressed at a low level.

    Gene expression databases

    BgeeiQ9Y458.
    CleanExiHS_TBX22.
    GenevestigatoriQ9Y458.

    Organism-specific databases

    HPAiHPA003105.

    Interactioni

    Protein-protein interaction databases

    BioGridi119172. 2 interactions.
    IntActiQ9Y458. 3 interactions.
    STRINGi9606.ENSP00000362390.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y458.
    SMRiQ9Y458. Positions 92-283.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG263167.
    HOGENOMiHOG000039966.
    HOVERGENiHBG055831.
    InParanoidiQ9Y458.
    KOiK10186.
    OMAiLETYPWR.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiQ9Y458.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    [Graphical view]
    PRINTSiPR00937. TBOX.
    SMARTiSM00425. TBOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF49417. SSF49417. 1 hit.
    PROSITEiPS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y458-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS    50
    AAGKSEPLEK QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE 100
    LWKRFHDIGT EMIITKAGRR MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK 150
    RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP DSPCSGETWM RQIISFDRMK 200
    LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS LPTEGVKTFS 250
    FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW 300
    RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL 350
    PTSSLGMPCP EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS 400
    QSLAPLMMEV PMLSSLGVTN SKSGSSEDSS DQYLQAPNST NQMLYGLQSP 450
    GNIFLPNSIT PEALSCSFHP SYDFYRYNFS MPSRLISGSN HLKVNDDSQV 500
    SFGEGKCNHV HWYPAINHYL 520
    Length:520
    Mass (Da):57,910
    Last modified:February 12, 2003 - v3
    Checksum:i1502E19245CC2C93
    GO
    Isoform 2 (identifier: Q9Y458-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-120: Missing.

    Show »
    Length:400
    Mass (Da):44,718
    Checksum:iC06B60DADD29E6C3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161V → A in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036066
    Natural varianti51 – 511A → T in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036067
    Natural varianti118 – 1181G → C in CPX. 1 Publication
    VAR_015383
    Natural varianti121 – 1211M → V in CPX. 1 Publication
    VAR_021831
    Natural varianti183 – 1831P → L in CPX. 1 Publication
    VAR_021832
    Natural varianti187 – 1871E → K.1 Publication
    Corresponds to variant rs34244923 [ dbSNP | Ensembl ].
    VAR_021833
    Natural varianti195 – 1951S → SS in CPX. 1 Publication
    VAR_069900
    Natural varianti214 – 2141L → P in CPX. 1 Publication
    VAR_021829
    Natural varianti249 – 2491F → Y.1 Publication
    VAR_069416
    Natural varianti260 – 2601T → M in CPX. 1 Publication
    VAR_015384
    Natural varianti264 – 2641N → Y in CPX. 1 Publication
    Corresponds to variant rs28935177 [ dbSNP | Ensembl ].
    VAR_021830
    Natural varianti307 – 3071D → N in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036068

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 120120Missing in isoform 2. 1 PublicationVSP_040987Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY035371 mRNA. Translation: AAK63189.1.
    AL031000 Genomic DNA. Translation: CAI43069.1.
    AL031000 Genomic DNA. Translation: CAI43070.1.
    CH471104 Genomic DNA. Translation: EAW98588.1.
    BC014194 mRNA. Translation: AAH14194.2.
    AF251684 mRNA. Translation: AAG23749.1.
    CCDSiCCDS14445.1. [Q9Y458-1]
    CCDS43975.1. [Q9Y458-2]
    RefSeqiNP_001103348.1. NM_001109878.1. [Q9Y458-1]
    NP_001103349.1. NM_001109879.1. [Q9Y458-2]
    NP_058650.1. NM_016954.2. [Q9Y458-1]
    XP_005262195.1. XM_005262138.2. [Q9Y458-1]
    XP_006725483.1. XM_006725420.1. [Q9Y458-1]
    UniGeneiHs.374253.

    Genome annotation databases

    EnsembliENST00000373291; ENSP00000362388; ENSG00000122145. [Q9Y458-2]
    ENST00000373294; ENSP00000362390; ENSG00000122145. [Q9Y458-1]
    ENST00000373296; ENSP00000362393; ENSG00000122145. [Q9Y458-1]
    GeneIDi50945.
    KEGGihsa:50945.
    UCSCiuc004edi.1. human. [Q9Y458-1]

    Polymorphism databases

    DMDMi28381405.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY035371 mRNA. Translation: AAK63189.1 .
    AL031000 Genomic DNA. Translation: CAI43069.1 .
    AL031000 Genomic DNA. Translation: CAI43070.1 .
    CH471104 Genomic DNA. Translation: EAW98588.1 .
    BC014194 mRNA. Translation: AAH14194.2 .
    AF251684 mRNA. Translation: AAG23749.1 .
    CCDSi CCDS14445.1. [Q9Y458-1 ]
    CCDS43975.1. [Q9Y458-2 ]
    RefSeqi NP_001103348.1. NM_001109878.1. [Q9Y458-1 ]
    NP_001103349.1. NM_001109879.1. [Q9Y458-2 ]
    NP_058650.1. NM_016954.2. [Q9Y458-1 ]
    XP_005262195.1. XM_005262138.2. [Q9Y458-1 ]
    XP_006725483.1. XM_006725420.1. [Q9Y458-1 ]
    UniGenei Hs.374253.

    3D structure databases

    ProteinModelPortali Q9Y458.
    SMRi Q9Y458. Positions 92-283.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119172. 2 interactions.
    IntActi Q9Y458. 3 interactions.
    STRINGi 9606.ENSP00000362390.

    PTM databases

    PhosphoSitei Q9Y458.

    Polymorphism databases

    DMDMi 28381405.

    Proteomic databases

    PaxDbi Q9Y458.
    PRIDEi Q9Y458.

    Protocols and materials databases

    DNASUi 50945.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373291 ; ENSP00000362388 ; ENSG00000122145 . [Q9Y458-2 ]
    ENST00000373294 ; ENSP00000362390 ; ENSG00000122145 . [Q9Y458-1 ]
    ENST00000373296 ; ENSP00000362393 ; ENSG00000122145 . [Q9Y458-1 ]
    GeneIDi 50945.
    KEGGi hsa:50945.
    UCSCi uc004edi.1. human. [Q9Y458-1 ]

    Organism-specific databases

    CTDi 50945.
    GeneCardsi GC0XP079270.
    HGNCi HGNC:11600. TBX22.
    HPAi HPA003105.
    MIMi 300307. gene.
    302905. phenotype.
    303400. phenotype.
    neXtProti NX_Q9Y458.
    Orphaneti 921. Abruzzo-Erickson syndrome.
    324601. X-linked cleft palate and ankyloglossia.
    PharmGKBi PA36363.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG263167.
    HOGENOMi HOG000039966.
    HOVERGENi HBG055831.
    InParanoidi Q9Y458.
    KOi K10186.
    OMAi LETYPWR.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi Q9Y458.
    TreeFami TF106341.

    Miscellaneous databases

    GeneWikii TBX22.
    GenomeRNAii 50945.
    NextBioi 53413.
    PROi Q9Y458.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y458.
    CleanExi HS_TBX22.
    Genevestigatori Q9Y458.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view ]
    PANTHERi PTHR11267. PTHR11267. 1 hit.
    Pfami PF00907. T-box. 1 hit.
    [Graphical view ]
    PRINTSi PR00937. TBOX.
    SMARTi SM00425. TBOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49417. SSF49417. 1 hit.
    PROSITEi PS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of a new human T-box gene (TBX22) located in Xq21.1 encoding a protein containing a truncated T-domain."
      Laugier-Anfossi F., Villard L.
      Gene 255:289-296(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia."
      Braybrook C., Doudney K., Marcano A.C., Arnason A., Bjornsson A., Patton M.A., Goodfellow P.J., Moore G.E., Stanier P.
      Nat. Genet. 29:179-183(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS CPX CYS-118 AND MET-260.
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. 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 1).
      Tissue: Skin.
    6. "X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations."
      Pauws E., Peskett E., Boissin C., Hoshino A., Mengrelis K., Carta E., Abruzzo M.A., Lees M., Moore G.E., Erickson R.P., Stanier P.
      Clin. Genet. 83:352-358(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ABERS.
    7. "Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients."
      Braybrook C., Lisgo S., Doudney K., Henderson D., Marcano A.C.B., Strachan T., Patton M.A., Villard L., Moore G.E., Stanier P., Lindsay S.
      Hum. Mol. Genet. 11:2793-2804(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CPX SER-195 INS AND PRO-214.
    8. Cited for: VARIANTS CPX VAL-121; LEU-183 AND TYR-264, VARIANT LYS-187.
    9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-16; THR-51 AND ASN-307.
    10. Cited for: VARIANT TYR-249.

    Entry informationi

    Entry nameiTBX22_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y458
    Secondary accession number(s): Q5JZ06, Q96LC0, Q9HBF1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: February 12, 2003
    Last modified: October 1, 2014
    This is version 128 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 X
      Human chromosome X: 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