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    BEND7 BEN domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 222389, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BEND7provided by HGNC
    Official Full Name
    BEN domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:23514
    See related
    Ensembl:ENSG00000165626 AllianceGenome:HGNC:23514
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C10orf30
    Summary
    Predicted to enable DNA binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 4.1), small intestine (RPKM 3.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BEND7 in Genome Data Viewer
    Location:
    10p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13438481..13529634, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13451518..13542675, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13480481..13571014, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376419 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:13437106-13438069 Neighboring gene Sharpr-MPRA regulatory region 1825 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13452136-13452642 Neighboring gene uncharacterized LOC105376420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13481583-13482310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2155 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:13516079-13517278 Neighboring gene BEND7 divergent transcript Neighboring gene uncharacterized LOC105376422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13629435-13630030 Neighboring gene pre-mRNA processing factor 18 Neighboring gene ribosomal protein L6 pseudogene 24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel locus associated with skin colour in African-admixed populations. Hernandez-Pacheco N, et al. Sci Rep, 2017 Mar 16. PMID 28300201, Free PMC Article
    2. Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation. Kim SO, et al. Int J Mol Sci, 2021 Jul 15. PMID 34299191, Free PMC Article
    3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40283, MGC35247

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    BEN domain-containing protein 7

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100912.2 → NP_001094382.1  BEN domain-containing protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001094382.1

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      Consensus CDS
      CCDS41490.1
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Related
      ENSP00000367868.3, ENST00000378605.3
      Conserved Domains (1) summary
      pfam10523
      Location:271 → 350
      BEN; BEN domain

    2. NM_001369863.1 → NP_001356792.1  BEN domain-containing protein 7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      Consensus CDS
      CCDS91214.1
      UniProtKB/Swiss-Prot
      A0A804HJG9, Q5SYY7, Q5SYY8, Q5SYY9, Q8N5T7, Q8N7W2
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Related
      ENSP00000507500.2, ENST00000466271.3
      Conserved Domains (1) summary
      smart01025
      Location:309 → 393
      BEN; The BEN domain is found in diverse animal proteins

    3. NM_001370075.2 → NP_001357004.2  BEN domain-containing protein 7 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Related
      ENSP00000510220.1, ENST00000689161.1
      Conserved Domains (1) summary
      smart01025
      Location:309 → 393
      BEN; The BEN domain is found in diverse animal proteins

    4. NM_001378149.1 → NP_001365078.1  BEN domain-containing protein 7 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Conserved Domains (1) summary
      smart01025
      Location:309 → 393
      BEN; The BEN domain is found in diverse animal proteins

    5. NM_001378150.1 → NP_001365079.1  BEN domain-containing protein 7 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      UniProtKB/TrEMBL
      A0A8I5KQX9

    6. NM_001378151.1 → NP_001365080.1  BEN domain-containing protein 7 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Conserved Domains (1) summary
      smart01025
      Location:309 → 393
      BEN; The BEN domain is found in diverse animal proteins

    7. NM_001387359.1 → NP_001374288.1  BEN domain-containing protein 7 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      UniProtKB/TrEMBL
      A0A8I5KQX9
      Conserved Domains (1) summary
      smart01025
      Location:322 → 406
      BEN; The BEN domain is found in diverse animal proteins

    8. NM_152751.3 → NP_689964.2  BEN domain-containing protein 7 isoform 1

      See identical proteins and their annotated locations for NP_689964.2

      Status: VALIDATED

      Source sequence(s)
      AL359172, AL590677
      Consensus CDS
      CCDS7099.1
      UniProtKB/TrEMBL
      A0AAK2PQJ4
      Related
      ENSP00000345773.3, ENST00000341083.7
      Conserved Domains (1) summary
      pfam10523
      Location:258 → 337
      BEN; BEN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      13438481..13529634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424786.1 → XP_047280742.1  BEN domain-containing protein 7 isoform X5

    2. XM_011519393.4 → XP_011517695.1  BEN domain-containing protein 7 isoform X6

      Conserved Domains (1) summary
      pfam10523
      Location:295 → 374
      BEN; BEN domain

    3. XM_011519392.3 → XP_011517694.1  BEN domain-containing protein 7 isoform X4

      See identical proteins and their annotated locations for XP_011517694.1

      Conserved Domains (1) summary
      pfam10523
      Location:310 → 389
      BEN; BEN domain

    4. XM_005252402.6 → XP_005252459.1  BEN domain-containing protein 7 isoform X3

      Conserved Domains (1) summary
      pfam10523
      Location:310 → 389
      BEN; BEN domain

    5. XM_011519391.3 → XP_011517693.2  BEN domain-containing protein 7 isoform X2

    6. XM_047424785.1 → XP_047280741.1  BEN domain-containing protein 7 isoform X1

    7. XM_047424792.1 → XP_047280748.1  BEN domain-containing protein 7 isoform X7

    8. XM_047424787.1 → XP_047280743.1  BEN domain-containing protein 7 isoform X7

    9. XM_047424788.1 → XP_047280744.1  BEN domain-containing protein 7 isoform X7

    10. XM_011519390.3 → XP_011517692.1  BEN domain-containing protein 7 isoform X7

      See identical proteins and their annotated locations for XP_011517692.1

      Conserved Domains (1) summary
      pfam10523
      Location:271 → 350
      BEN; BEN domain

    11. XM_047424790.1 → XP_047280746.1  BEN domain-containing protein 7 isoform X7

    12. XM_047424789.1 → XP_047280745.1  BEN domain-containing protein 7 isoform X7

    13. XM_011519395.3 → XP_011517697.1  BEN domain-containing protein 7 isoform X7

      See identical proteins and their annotated locations for XP_011517697.1

      Conserved Domains (1) summary
      pfam10523
      Location:271 → 350
      BEN; BEN domain

    14. XM_011519396.3 → XP_011517698.1  BEN domain-containing protein 7 isoform X7

      See identical proteins and their annotated locations for XP_011517698.1

      Conserved Domains (1) summary
      pfam10523
      Location:271 → 350
      BEN; BEN domain

    15. XM_047424793.1 → XP_047280749.1  BEN domain-containing protein 7 isoform X7

    16. XM_047424801.1 → XP_047280757.1  BEN domain-containing protein 7 isoform X21

    17. XM_047424795.1 → XP_047280751.1  BEN domain-containing protein 7 isoform X14

    18. XM_047424794.1 → XP_047280750.1  BEN domain-containing protein 7 isoform X13

    19. XM_047424800.1 → XP_047280756.1  BEN domain-containing protein 7 isoform X20

    20. XM_011519399.3 → XP_011517701.2  BEN domain-containing protein 7 isoform X9

    21. XM_011519411.3 → XP_011517713.2  BEN domain-containing protein 7 isoform X19

    22. XM_011519403.3 → XP_011517705.2  BEN domain-containing protein 7 isoform X12

    23. XM_011519407.2 → XP_011517709.2  BEN domain-containing protein 7 isoform X16

    24. XM_011519398.3 → XP_011517700.2  BEN domain-containing protein 7 isoform X8

    25. XM_011519400.3 → XP_011517702.2  BEN domain-containing protein 7 isoform X10

    26. XM_011519402.3 → XP_011517704.2  BEN domain-containing protein 7 isoform X11

      Related
      ENSP00000507875.1, ENST00000683141.1

    27. XM_011519404.4 → XP_011517706.2  BEN domain-containing protein 7 isoform X15

    28. XM_047424796.1 → XP_047280752.1  BEN domain-containing protein 7 isoform X17

    29. XM_047424798.1 → XP_047280754.1  BEN domain-containing protein 7 isoform X17

    30. XM_047424799.1 → XP_047280755.1  BEN domain-containing protein 7 isoform X18

    31. XM_047424797.1 → XP_047280753.1  BEN domain-containing protein 7 isoform X17

    32. XM_047424803.1 → XP_047280759.1  BEN domain-containing protein 7 isoform X22

    33. XM_011519412.2 → XP_011517714.2  BEN domain-containing protein 7 isoform X22

    RNA

    1. XR_930476.3 RNA Sequence

    2. XR_002956970.2 RNA Sequence

    3. XR_002956969.2 RNA Sequence

    4. XR_007061948.1 RNA Sequence

    5. XR_002956968.2 RNA Sequence

    6. XR_007061949.1 RNA Sequence

    7. XR_930472.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      13451518..13542675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365135.1 → XP_054221110.1  BEN domain-containing protein 7 isoform X5

    2. XM_054365137.1 → XP_054221112.1  BEN domain-containing protein 7 isoform X6

    3. XM_054365134.1 → XP_054221109.1  BEN domain-containing protein 7 isoform X4

    4. XM_054365133.1 → XP_054221108.1  BEN domain-containing protein 7 isoform X3

    5. XM_054365132.1 → XP_054221107.1  BEN domain-containing protein 7 isoform X2

    6. XM_054365131.1 → XP_054221106.1  BEN domain-containing protein 7 isoform X1

    7. XM_054365145.1 → XP_054221120.1  BEN domain-containing protein 7 isoform X7

    8. XM_054365142.1 → XP_054221117.1  BEN domain-containing protein 7 isoform X7

    9. XM_054365141.1 → XP_054221116.1  BEN domain-containing protein 7 isoform X7

    10. XM_054365138.1 → XP_054221113.1  BEN domain-containing protein 7 isoform X7

    11. XM_054365140.1 → XP_054221115.1  BEN domain-containing protein 7 isoform X7

    12. XM_054365139.1 → XP_054221114.1  BEN domain-containing protein 7 isoform X7

    13. XM_054365143.1 → XP_054221118.1  BEN domain-containing protein 7 isoform X7

    14. XM_054365144.1 → XP_054221119.1  BEN domain-containing protein 7 isoform X7

    15. XM_054365146.1 → XP_054221121.1  BEN domain-containing protein 7 isoform X7

    16. XM_054365162.1 → XP_054221137.1  BEN domain-containing protein 7 isoform X21

    17. XM_054365153.1 → XP_054221128.1  BEN domain-containing protein 7 isoform X14

    18. XM_054365152.1 → XP_054221127.1  BEN domain-containing protein 7 isoform X13

    19. XM_054365161.1 → XP_054221136.1  BEN domain-containing protein 7 isoform X20

    20. XM_054365148.1 → XP_054221123.1  BEN domain-containing protein 7 isoform X9

    21. XM_054365160.1 → XP_054221135.1  BEN domain-containing protein 7 isoform X19

    22. XM_054365151.1 → XP_054221126.1  BEN domain-containing protein 7 isoform X12

    23. XM_054365155.1 → XP_054221130.1  BEN domain-containing protein 7 isoform X16

    24. XM_054365147.1 → XP_054221122.1  BEN domain-containing protein 7 isoform X8

    25. XM_054365149.1 → XP_054221124.1  BEN domain-containing protein 7 isoform X10

    26. XM_054365150.1 → XP_054221125.1  BEN domain-containing protein 7 isoform X11

    27. XM_054365154.1 → XP_054221129.1  BEN domain-containing protein 7 isoform X15

    28. XM_054365156.1 → XP_054221131.1  BEN domain-containing protein 7 isoform X17

    29. XM_054365158.1 → XP_054221133.1  BEN domain-containing protein 7 isoform X17

    30. XM_054365159.1 → XP_054221134.1  BEN domain-containing protein 7 isoform X18

    31. XM_054365157.1 → XP_054221132.1  BEN domain-containing protein 7 isoform X17

    32. XM_054365136.1 → XP_054221111.1  BEN domain-containing protein 7 isoform X23

    33. XM_054365163.1 → XP_054221138.1  BEN domain-containing protein 7 isoform X22

    RNA

    1. XR_008488179.1 RNA Sequence

    2. XR_008488181.1 RNA Sequence

    3. XR_008488178.1 RNA Sequence

    4. XR_008488180.1 RNA Sequence

    5. XR_008488177.1 RNA Sequence

    6. XR_008488182.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7W2.3 GenPept UniProtKB/Swiss-Prot:Q8N7W2

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