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Q7Z553

- MDGA2_HUMAN

UniProt

Q7Z553 - MDGA2_HUMAN

Protein

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

Gene

MDGA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (13 Apr 2004)
      Previous versions | rss
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    Functioni

    May be involved in cell-cell interactions.By similarity

    GO - Biological processi

    1. spinal cord motor neuron differentiation Source: HGNC

    Protein family/group databases

    MEROPSiI43.001.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MAM domain-containing glycosylphosphatidylinositol anchor protein 2
    Alternative name(s):
    MAM domain-containing protein 1
    Gene namesi
    Name:MDGA2
    Synonyms:MAMDC1
    ORF Names:UNQ8188/PRO23197
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19835. MDGA2.

    Subcellular locationi

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162395090.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 931906MAM domain-containing glycosylphosphatidylinositol anchor protein 2PRO_0000014859Add
    BLAST
    Propeptidei932 – 95625Removed in mature formSequence AnalysisPRO_0000292043Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi62 ↔ 110PROSITE-ProRule annotation
    Glycosylationi92 – 921N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi159 ↔ 216PROSITE-ProRule annotation
    Glycosylationi213 – 2131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi237 – 2371N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi264 ↔ 310PROSITE-ProRule annotation
    Disulfide bondi359 ↔ 417PROSITE-ProRule annotation
    Glycosylationi434 – 4341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi443 – 4431N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi465 ↔ 515PROSITE-ProRule annotation
    Glycosylationi504 – 5041N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi561 ↔ 611PROSITE-ProRule annotation
    Glycosylationi610 – 6101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi703 – 7031N-linked (GlcNAc...)Sequence Analysis
    Lipidationi931 – 9311GPI-anchor amidated aspartateSequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiQ7Z553.
    PRIDEiQ7Z553.

    PTM databases

    PhosphoSiteiQ7Z553.

    Expressioni

    Tissue specificityi

    Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ7Z553.
    BgeeiQ7Z553.
    CleanExiHS_MDGA2.
    GenevestigatoriQ7Z553.

    Organism-specific databases

    HPAiHPA003084.

    Interactioni

    Subunit structurei

    Interacts (through the Ig-like domains) with NLGN2.By similarity

    Protein-protein interaction databases

    BioGridi127785. 1 interaction.
    STRINGi9606.ENSP00000382178.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z553.
    SMRiQ7Z553. Positions 11-618, 748-921.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini27 – 127101Ig-like 1Add
    BLAST
    Domaini134 – 23299Ig-like 2Add
    BLAST
    Domaini242 – 32887Ig-like 3Add
    BLAST
    Domaini340 – 43697Ig-like 4Add
    BLAST
    Domaini442 – 53392Ig-like 5Add
    BLAST
    Domaini540 – 62788Ig-like 6Add
    BLAST
    Domaini638 – 739102Fibronectin type-IIIPROSITE-ProRule annotationAdd
    BLAST
    Domaini746 – 921176MAMPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation
    Contains 1 MAM domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG126204.
    HOGENOMiHOG000015243.
    HOVERGENiHBG052403.
    InParanoidiQ7Z553.
    OMAiKQDLATK.
    OrthoDBiEOG7NCV2N.
    PhylomeDBiQ7Z553.
    TreeFamiTF330345.

    Family and domain databases

    Gene3Di2.60.40.10. 7 hits.
    InterProiIPR008985. ConA-like_lec_gl_sf.
    IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR000998. MAM_dom.
    [Graphical view]
    PfamiPF07679. I-set. 3 hits.
    PF00629. MAM. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    SM00408. IGc2. 4 hits.
    SM00137. MAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 1 hit.
    SSF49899. SSF49899. 1 hit.
    PROSITEiPS50853. FN3. 1 hit.
    PS50835. IG_LIKE. 6 hits.
    PS50060. MAM_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7Z553-1) [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

    MDLLYGLVWL LTVLLEGISG QGVYAPPTVR IVHSGLACNI EEERYSERVY    50
    TIREGETLEL TCLVTGHPRP QIRWTKTAGS ASDRFQDSSV FNETLRITNI 100
    QRHQGGRYYC KAENGLGSPA IKSIRVDVYY LDDPVVTVHQ SIGEAKEQFY 150
    YERTVFLRCV ANSNPPVRYS WRRGQEVLLQ GSDKGVEIYE PFFTQGETKI 200
    LKLKNLRPQD YANYSCIASV RNVCNIPDKM VSFRLSNKTA SPSIKLLVDD 250
    PIVVNPGEAI TLVCVTTGGE PAPSLTWVRS FGTLPEKTVL NGGTLTIPAI 300
    TSDDAGTYSC IANNNVGNPA KKSTNIIVRA LKKGRFWITP DPYHKDDNIQ 350
    IGREVKISCQ VEAVPSEELT FSWFKNGRPL RSSERMVITQ TDPDVSPGTT 400
    NLDIIDLKFT DFGTYTCVAS LKGGGISDIS IDVNISSSTV PPNLTVPQEK 450
    SPLVTREGDT IELQCQVTGK PKPIILWSRA DKEVAMPDGS MQMESYDGTL 500
    RIVNVSREMS GMYRCQTSQY NGFNVKPREA LVQLIVQYPP AVEPAFLEIR 550
    QGQDRSVTMS CRVLRAYPIR VLTYEWRLGN KLLRTGQFDS QEYTEYAVKS 600
    LSNENYGVYN CSIINEAGAG RCSFLVTGKA YAPEFYYDTY NPVWQNRHRV 650
    YSYSLQWTQM NPDAVDRIVA YRLGIRQAGQ QRWWEQEIKI NGNIQKGELI 700
    TYNLTELIKP EAYEVRLTPL TKFGEGDSTI RVIKYSAPVN PHLREFHCGF 750
    EDGNICLFTQ DDTDNFDWTK QSTATRNTKY TPNTGPNADR SGSKEGFYMY 800
    IETSRPRLEG EKARLLSPVF SIAPKNPYGP TNTAYCFSFF YHMYGQHIGV 850
    LNVYLRLKGQ TTIENPLWSS SGNKGQRWNE AHVNIYPITS FQLIFEGIRG 900
    PGIEGDIAID DVSIAEGECA KQDLATKNSV DGAVGILVHI WLFPIIVLIS 950
    ILSPRR 956
    Length:956
    Mass (Da):107,436
    Last modified:April 13, 2004 - v2
    Checksum:i6B70534BD35489B9
    GO
    Isoform 2 (identifier: Q7Z553-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-229: Missing.

    Show »
    Length:727
    Mass (Da):81,364
    Checksum:i24465F56F955F261
    GO
    Isoform 3 (identifier: Q7Z553-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKM

    Note: No experimental confirmation available.Curated

    Show »
    Length:1,025
    Mass (Da):115,310
    Checksum:iFC5403A869640428
    GO

    Sequence cautioni

    The sequence AAP97010.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti19 – 246SGQGVY → EHLVIQ in AAQ88492. (PubMed:12508121)Curated
    Sequence conflicti71 – 711Missing in AAQ88492. (PubMed:12508121)Curated
    Sequence conflicti457 – 4571E → Q in AK309211. (PubMed:14702039)Curated
    Sequence conflicti479 – 4791R → K in AK309211. (PubMed:14702039)Curated
    Sequence conflicti504 – 5041N → S in AK309211. (PubMed:14702039)Curated
    Sequence conflicti554 – 5541D → N in AAQ88492. (PubMed:12508121)Curated
    Sequence conflicti930 – 9301V → I in AK309211. (PubMed:14702039)Curated
    Isoform 3 (identifier: Q7Z553-3)
    Sequence conflicti50 – 501G → S in AK309211. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti608 – 6081V → F.
    Corresponds to variant rs12590500 [ dbSNP | Ensembl ].
    VAR_059400

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 229229Missing in isoform 2. CuratedVSP_042468Add
    BLAST
    Alternative sequencei1 – 11M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3. 1 PublicationVSP_045240

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY369208 mRNA. Translation: AAQ73312.1.
    AY358125 mRNA. Translation: AAQ88492.1.
    AK309211 mRNA. No translation available.
    AL079306 Genomic DNA. No translation available.
    AL157792 Genomic DNA. No translation available.
    AL162551 Genomic DNA. No translation available.
    AL358832 Genomic DNA. No translation available.
    AL359951 Genomic DNA. No translation available.
    AL591771 Genomic DNA. No translation available.
    AY328482 mRNA. Translation: AAP97010.1. Different initiation.
    CCDSiCCDS41948.1. [Q7Z553-2]
    CCDS45098.3. [Q7Z553-1]
    RefSeqiNP_001106970.3. NM_001113498.2. [Q7Z553-1]
    NP_878250.2. NM_182830.4. [Q7Z553-2]
    UniGeneiHs.436380.

    Genome annotation databases

    EnsembliENST00000357362; ENSP00000349925; ENSG00000139915. [Q7Z553-2]
    ENST00000399232; ENSP00000382178; ENSG00000139915. [Q7Z553-1]
    ENST00000426342; ENSP00000405456; ENSG00000139915. [Q7Z553-2]
    GeneIDi161357.
    KEGGihsa:161357.
    UCSCiuc001wwi.4. human. [Q7Z553-1]
    uc010ani.3. human. [Q7Z553-2]

    Polymorphism databases

    DMDMi46403175.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY369208 mRNA. Translation: AAQ73312.1 .
    AY358125 mRNA. Translation: AAQ88492.1 .
    AK309211 mRNA. No translation available.
    AL079306 Genomic DNA. No translation available.
    AL157792 Genomic DNA. No translation available.
    AL162551 Genomic DNA. No translation available.
    AL358832 Genomic DNA. No translation available.
    AL359951 Genomic DNA. No translation available.
    AL591771 Genomic DNA. No translation available.
    AY328482 mRNA. Translation: AAP97010.1 . Different initiation.
    CCDSi CCDS41948.1. [Q7Z553-2 ]
    CCDS45098.3. [Q7Z553-1 ]
    RefSeqi NP_001106970.3. NM_001113498.2. [Q7Z553-1 ]
    NP_878250.2. NM_182830.4. [Q7Z553-2 ]
    UniGenei Hs.436380.

    3D structure databases

    ProteinModelPortali Q7Z553.
    SMRi Q7Z553. Positions 11-618, 748-921.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127785. 1 interaction.
    STRINGi 9606.ENSP00000382178.

    Protein family/group databases

    MEROPSi I43.001.

    PTM databases

    PhosphoSitei Q7Z553.

    Polymorphism databases

    DMDMi 46403175.

    Proteomic databases

    PaxDbi Q7Z553.
    PRIDEi Q7Z553.

    Protocols and materials databases

    DNASUi 161357.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357362 ; ENSP00000349925 ; ENSG00000139915 . [Q7Z553-2 ]
    ENST00000399232 ; ENSP00000382178 ; ENSG00000139915 . [Q7Z553-1 ]
    ENST00000426342 ; ENSP00000405456 ; ENSG00000139915 . [Q7Z553-2 ]
    GeneIDi 161357.
    KEGGi hsa:161357.
    UCSCi uc001wwi.4. human. [Q7Z553-1 ]
    uc010ani.3. human. [Q7Z553-2 ]

    Organism-specific databases

    CTDi 161357.
    GeneCardsi GC14M047309.
    H-InvDB HIX0026644.
    HGNCi HGNC:19835. MDGA2.
    HPAi HPA003084.
    MIMi 611128. gene.
    neXtProti NX_Q7Z553.
    PharmGKBi PA162395090.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG126204.
    HOGENOMi HOG000015243.
    HOVERGENi HBG052403.
    InParanoidi Q7Z553.
    OMAi KQDLATK.
    OrthoDBi EOG7NCV2N.
    PhylomeDBi Q7Z553.
    TreeFami TF330345.

    Miscellaneous databases

    ChiTaRSi MDGA2. human.
    GenomeRNAii 161357.
    NextBioi 35535227.
    PROi Q7Z553.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z553.
    Bgeei Q7Z553.
    CleanExi HS_MDGA2.
    Genevestigatori Q7Z553.

    Family and domain databases

    Gene3Di 2.60.40.10. 7 hits.
    InterProi IPR008985. ConA-like_lec_gl_sf.
    IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR000998. MAM_dom.
    [Graphical view ]
    Pfami PF07679. I-set. 3 hits.
    PF00629. MAM. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    SM00408. IGc2. 4 hits.
    SM00137. MAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 1 hit.
    SSF49899. SSF49899. 1 hit.
    PROSITEi PS50853. FN3. 1 hit.
    PS50835. IG_LIKE. 6 hits.
    PS50060. MAM_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Huang C.Q., Wu S.L., Liu S.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Thalamus.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 19-956 (ISOFORM 1).
    5. "Cloning and characterization of a novel human MAMDC1 gene."
      Shan Y.X., Yu L.
      Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 335-956 (ISOFORMS 1/2).
    6. Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiMDGA2_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z553
    Secondary accession number(s): F6W3S7, J3KPX6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: April 13, 2004
    Last modified: October 1, 2014
    This is version 119 of the entry and version 2 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 14
      Human chromosome 14: 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