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Q9HCM4

- E41L5_HUMAN

UniProt

Q9HCM4 - E41L5_HUMAN

Protein

Band 4.1-like protein 5

Gene

EPB41L5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 3 (29 Apr 2008)
      Previous versions | rss
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    Functioni

    May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.1 Publication

    GO - Biological processi

    1. actomyosin structure organization Source: Ensembl
    2. apical constriction Source: Ensembl
    3. axial mesoderm morphogenesis Source: Ensembl
    4. cellular response to transforming growth factor beta stimulus Source: Ensembl
    5. ectoderm development Source: Ensembl
    6. embryonic foregut morphogenesis Source: Ensembl
    7. endoderm development Source: Ensembl
    8. epithelial to mesenchymal transition Source: Ensembl
    9. in utero embryonic development Source: Ensembl
    10. left/right axis specification Source: Ensembl
    11. mesoderm migration involved in gastrulation Source: Ensembl
    12. negative regulation of cell-cell adhesion Source: Ensembl
    13. negative regulation of protein binding Source: Ensembl
    14. neural plate morphogenesis Source: Ensembl
    15. paraxial mesoderm development Source: Ensembl
    16. positive regulation of epithelial cell migration Source: Ensembl
    17. positive regulation of epithelial to mesenchymal transition Source: Ensembl
    18. positive regulation of focal adhesion assembly Source: Ensembl
    19. positive regulation of protein binding Source: Ensembl
    20. posttranscriptional regulation of gene expression Source: Ensembl
    21. regulation of establishment of protein localization Source: Ensembl
    22. somite rostral/caudal axis specification Source: Ensembl
    23. substrate-dependent cell migration, cell attachment to substrate Source: Ensembl
    24. unidimensional cell growth Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Band 4.1-like protein 5
    Gene namesi
    Name:EPB41L5
    Synonyms:KIAA1548
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:19819. EPB41L5.

    Subcellular locationi

    Cytoplasm. Cell junctionadherens junction
    Note: Associated with the plasma membrane. Colocalizes with CTNNB1, an adherens junction marker By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytoskeleton Source: InterPro
    3. extrinsic component of membrane Source: InterPro
    4. focal adhesion Source: Ensembl
    5. nucleus Source: HPA
    6. plasma membrane Source: HPA
    7. ruffle membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134862834.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 733733Band 4.1-like protein 5PRO_0000219406Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei436 – 4361Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9HCM4.
    PaxDbiQ9HCM4.
    PRIDEiQ9HCM4.

    PTM databases

    PhosphoSiteiQ9HCM4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9HCM4.
    BgeeiQ9HCM4.
    CleanExiHS_EPB41L5.
    GenevestigatoriQ9HCM4.

    Organism-specific databases

    HPAiHPA037563.
    HPA037564.

    Interactioni

    Subunit structurei

    Interacts with MPP5, CRB2 and CRB3.1 Publication

    Protein-protein interaction databases

    BioGridi121701. 6 interactions.
    IntActiQ9HCM4. 4 interactions.
    MINTiMINT-5005367.
    STRINGi9606.ENSP00000263713.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCM4.
    SMRiQ9HCM4. Positions 45-324.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini43 – 327285FERMPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The FERM domain binds to CRB1.

    Sequence similaritiesi

    Contains 1 FERM domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG269561.
    HOGENOMiHOG000231632.
    HOVERGENiHBG051434.
    InParanoidiQ9HCM4.
    OMAiLEATIGD.
    OrthoDBiEOG73FQM2.
    PhylomeDBiQ9HCM4.
    TreeFamiTF319780.

    Family and domain databases

    Gene3Di1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR000798. Ez/rad/moesin_like.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    [Graphical view]
    PRINTSiPR00935. BAND41.
    PR00661. ERMFAMILY.
    SMARTiSM00295. B41. 1 hit.
    [Graphical view]
    SUPFAMiSSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS00660. FERM_1. 1 hit.
    PS00661. FERM_2. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HCM4-1) [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

    MLSFFRRTLG RRSMRKHAEK ERLREAQRAA THIPAAGDSK SIITCRVSLL    50
    DGTDVSVDLP KKAKGQELFD QIMYHLDLIE SDYFGLRFMD SAQVAHWLDG 100
    TKSIKKQVKI GSPYCLHLRV KFYSSEPNNL REELTRYLFV LQLKQDILSG 150
    KLDCPFDTAV QLAAYNLQAE LGDYDLAEHS PELVSEFRFV PIQTEEMELA 200
    IFEKWKEYRG QTPAQAETNY LNKAKWLEMY GVDMHVVKAR DGNDYSLGLT 250
    PTGVLVFEGD TKIGLFFWPK ITRLDFKKNK LTLVVVEDDD QGKEQEHTFV 300
    FRLDHPKACK HLWKCAVEHH AFFRLRGPVQ KSSHRSGFIR LGSRFRYSGK 350
    TEYQTTKTNK ARRSTSFERR PSKRYSRRTL QMKACATKPE ELSVHNNVST 400
    QSNGSQQAWG MRSALPVSPS ISSAPVPVEI ENLPQSPGTD QHDRKCIPLN 450
    IDLLNSPDLL EATIGDVIGA SDTMETSQAL NDVNVATRLP GLGEPEVEYE 500
    TLKDTSEKLK QLEMENSPLL SPRSNIDVNI NSQEEVVKLT EKCLNNVIES 550
    PGLNVMRVPP DFKSNILKAQ VEAVHKVTKE DSLLSHKNAN VQDAATNSAV 600
    LNENNVPLPK ESLETLMLIT PADSGSVLKE ATDELDALLA SLTENLIDHT 650
    VAPQVSSTSM ITPRWIVPQS GAMSNGLAGC EMLLTGKEGH GNKDGISLIS 700
    PPAPFLVDAV TSSGPILAEE AVLKQKCLLT TEL 733
    Length:733
    Mass (Da):81,856
    Last modified:April 29, 2008 - v3
    Checksum:iA3712B5927C9C199
    GO
    Isoform 2 (identifier: Q9HCM4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         446-505: CIPLNIDLLN...EVEYETLKDT → WLSAASDCCQ...FPGHTAMTEI
         506-733: Missing.

    Show »
    Length:505
    Mass (Da):57,886
    Checksum:iD481C3DD2A16B630
    GO
    Isoform 3 (identifier: Q9HCM4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         668-669: PQ → P

    Note: No experimental confirmation available.

    Show »
    Length:732
    Mass (Da):81,728
    Checksum:i1DA5B2DC1599E331
    GO
    Isoform 4 (identifier: Q9HCM4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         669-687: QSGAMSNGLAGCEMLLTGK → LWSHFGRRSCPEAEVFTDH
         688-733: Missing.

    Show »
    Length:687
    Mass (Da):77,520
    Checksum:iC91D55CAC3D5C19D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti334 – 3341H → Y.
    Corresponds to variant rs28930677 [ dbSNP | Ensembl ].
    VAR_048357
    Natural varianti462 – 4621A → T.2 Publications
    Corresponds to variant rs1034489 [ dbSNP | Ensembl ].
    VAR_042699

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei446 – 50560CIPLN…TLKDT → WLSAASDCCQRGGNQWNTRA LPPPQTAHRNYTDFVHEHNV KNAGIRHDVHFPGHTAMTEI in isoform 2. 2 PublicationsVSP_033034Add
    BLAST
    Alternative sequencei506 – 733228Missing in isoform 2. 2 PublicationsVSP_033035Add
    BLAST
    Alternative sequencei668 – 6692PQ → P in isoform 3. 1 PublicationVSP_033036
    Alternative sequencei669 – 68719QSGAM…LLTGK → LWSHFGRRSCPEAEVFTDH in isoform 4. 1 PublicationVSP_033037Add
    BLAST
    Alternative sequencei688 – 73346Missing in isoform 4. 1 PublicationVSP_033038Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023019 mRNA. Translation: BAB14360.1.
    AK290895 mRNA. Translation: BAF83584.1.
    CH471103 Genomic DNA. Translation: EAW95234.1.
    BC032822 mRNA. Translation: AAH32822.1.
    BC054508 mRNA. Translation: AAH54508.1.
    AB046768 mRNA. Translation: BAB13374.1.
    CCDSiCCDS2130.1. [Q9HCM4-1]
    CCDS54392.1. [Q9HCM4-2]
    CCDS54393.1. [Q9HCM4-4]
    RefSeqiNP_001171866.1. NM_001184937.1. [Q9HCM4-4]
    NP_001171867.1. NM_001184938.1. [Q9HCM4-2]
    NP_001171868.1. NM_001184939.1. [Q9HCM4-2]
    NP_065960.2. NM_020909.3. [Q9HCM4-1]
    UniGeneiHs.369232.

    Genome annotation databases

    EnsembliENST00000263713; ENSP00000263713; ENSG00000115109. [Q9HCM4-1]
    ENST00000331393; ENSP00000329687; ENSG00000115109. [Q9HCM4-2]
    ENST00000443124; ENSP00000393722; ENSG00000115109. [Q9HCM4-2]
    ENST00000443902; ENSP00000393856; ENSG00000115109. [Q9HCM4-4]
    ENST00000452780; ENSP00000390439; ENSG00000115109. [Q9HCM4-3]
    GeneIDi57669.
    KEGGihsa:57669.
    UCSCiuc002tmg.3. human. [Q9HCM4-1]
    uc002tmh.4. human. [Q9HCM4-2]
    uc010fll.3. human. [Q9HCM4-4]
    uc010flm.3. human. [Q9HCM4-3]

    Polymorphism databases

    DMDMi187608883.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023019 mRNA. Translation: BAB14360.1 .
    AK290895 mRNA. Translation: BAF83584.1 .
    CH471103 Genomic DNA. Translation: EAW95234.1 .
    BC032822 mRNA. Translation: AAH32822.1 .
    BC054508 mRNA. Translation: AAH54508.1 .
    AB046768 mRNA. Translation: BAB13374.1 .
    CCDSi CCDS2130.1. [Q9HCM4-1 ]
    CCDS54392.1. [Q9HCM4-2 ]
    CCDS54393.1. [Q9HCM4-4 ]
    RefSeqi NP_001171866.1. NM_001184937.1. [Q9HCM4-4 ]
    NP_001171867.1. NM_001184938.1. [Q9HCM4-2 ]
    NP_001171868.1. NM_001184939.1. [Q9HCM4-2 ]
    NP_065960.2. NM_020909.3. [Q9HCM4-1 ]
    UniGenei Hs.369232.

    3D structure databases

    ProteinModelPortali Q9HCM4.
    SMRi Q9HCM4. Positions 45-324.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121701. 6 interactions.
    IntActi Q9HCM4. 4 interactions.
    MINTi MINT-5005367.
    STRINGi 9606.ENSP00000263713.

    PTM databases

    PhosphoSitei Q9HCM4.

    Polymorphism databases

    DMDMi 187608883.

    Proteomic databases

    MaxQBi Q9HCM4.
    PaxDbi Q9HCM4.
    PRIDEi Q9HCM4.

    Protocols and materials databases

    DNASUi 57669.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263713 ; ENSP00000263713 ; ENSG00000115109 . [Q9HCM4-1 ]
    ENST00000331393 ; ENSP00000329687 ; ENSG00000115109 . [Q9HCM4-2 ]
    ENST00000443124 ; ENSP00000393722 ; ENSG00000115109 . [Q9HCM4-2 ]
    ENST00000443902 ; ENSP00000393856 ; ENSG00000115109 . [Q9HCM4-4 ]
    ENST00000452780 ; ENSP00000390439 ; ENSG00000115109 . [Q9HCM4-3 ]
    GeneIDi 57669.
    KEGGi hsa:57669.
    UCSCi uc002tmg.3. human. [Q9HCM4-1 ]
    uc002tmh.4. human. [Q9HCM4-2 ]
    uc010fll.3. human. [Q9HCM4-4 ]
    uc010flm.3. human. [Q9HCM4-3 ]

    Organism-specific databases

    CTDi 57669.
    GeneCardsi GC02P120865.
    HGNCi HGNC:19819. EPB41L5.
    HPAi HPA037563.
    HPA037564.
    MIMi 611730. gene.
    neXtProti NX_Q9HCM4.
    PharmGKBi PA134862834.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG269561.
    HOGENOMi HOG000231632.
    HOVERGENi HBG051434.
    InParanoidi Q9HCM4.
    OMAi LEATIGD.
    OrthoDBi EOG73FQM2.
    PhylomeDBi Q9HCM4.
    TreeFami TF319780.

    Miscellaneous databases

    ChiTaRSi EPB41L5. human.
    GeneWikii EPB41L5.
    GenomeRNAii 57669.
    NextBioi 64455.
    PROi Q9HCM4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HCM4.
    Bgeei Q9HCM4.
    CleanExi HS_EPB41L5.
    Genevestigatori Q9HCM4.

    Family and domain databases

    Gene3Di 1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR000798. Ez/rad/moesin_like.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00935. BAND41.
    PR00661. ERMFAMILY.
    SMARTi SM00295. B41. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS00660. FERM_1. 1 hit.
    PS00661. FERM_2. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 2 AND 4), VARIANT THR-462.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 2).
      Tissue: Retinoblastoma and Testis.
    4. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 188-732 (ISOFORM 3), VARIANT THR-462.
      Tissue: Brain.
    5. Cited for: FUNCTION, INTERACTION WITH MPP5; CRB2 AND CRB3.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-436, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiE41L5_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCM4
    Secondary accession number(s): Q7Z5S1, Q8IZ12, Q9H975
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2001
    Last sequence update: April 29, 2008
    Last modified: October 1, 2014
    This is version 109 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 2
      Human chromosome 2: 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