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

Gene ID: 222389, updated on 7-Apr-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, Apr 2022]
Expression
Broad expression in thyroid (RPKM 4.1), small intestine (RPKM 3.0) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
10p13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13438481..13529634, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13451518..13542675, complement)
105.20220307 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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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)

Genotypes

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/TrEMBL
    A0A804HJG9, 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/Swiss-Prot
    Q8N7W2
    Related
    ENSP00000345773.3, ENST00000341083.7
    Conserved Domains (1) summary
    pfam10523
    Location:258 → 337
    BEN; BEN domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    UniProtKB/Swiss-Prot
    Q5SYY7, Q5SYY8, Q5SYY9, Q8N5T7, Q8N7W2
    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

    UniProtKB/Swiss-Prot
    Q5SYY7, Q5SYY8, Q5SYY9, Q8N5T7, Q8N7W2

  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
Q8N7W2.2 GenPept UniProtKB/Swiss-Prot:Q8N7W2

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