Format

Send to:

Choose Destination

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

Gene ID: 222389, updated on 13-Mar-2020

Summary

Official Symbol
BEND7provided by HGNC
Official Full Name
BEN domain containing 7provided by HGNC
Primary source
HGNC:HGNC:23514
See related
Ensembl:ENSG00000165626
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
Expression
Broad expression in thyroid (RPKM 4.1), small intestine (RPKM 3.0) and 22 other tissues See more
Orthologs

Genomic context

See BEND7 in Genome Data Viewer
Location:
10p13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (13438481..13529014, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13480484..13570587, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376419 Neighboring gene uncharacterized LOC105376420 Neighboring gene uncharacterized LOC105376421 Neighboring gene uncharacterized LOC105376422 Neighboring gene pre-mRNA processing factor 18 Neighboring gene ribosomal protein L6 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40283, MGC35247

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 

General protein information

Preferred Names
BEN domain-containing protein 7

NCBI Reference Sequences (RefSeq)

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_001100912.2NP_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/Swiss-Prot
    Q8N7W2
    Related
    ENSP00000367868.3, ENST00000378605.3
    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  2. NM_001369863.1NP_001356792.1  BEN domain-containing protein 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL359172, AL590677
    Conserved Domains (1) summary
    smart01025
    Location:309393
    BEN; The BEN domain is found in diverse animal proteins
  3. NM_001370075.2NP_001357004.2  BEN domain-containing protein 7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL359172, AL590677
  4. NM_001378149.1NP_001365078.1  BEN domain-containing protein 7 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL359172, AL590677
  5. NM_001378150.1NP_001365079.1  BEN domain-containing protein 7 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL359172, AL590677
  6. NM_001378151.1NP_001365080.1  BEN domain-containing protein 7 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL359172, AL590677
  7. NM_152751.3NP_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:258337
    BEN; BEN domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    13438481..13529014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519392.2XP_011517694.1  BEN domain-containing protein 7 isoform X4

    See identical proteins and their annotated locations for XP_011517694.1

    UniProtKB/Swiss-Prot
    Q8N7W2
    Conserved Domains (1) summary
    pfam10523
    Location:310389
    BEN; BEN domain
  2. XM_011519391.2XP_011517693.1  BEN domain-containing protein 7 isoform X2

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  3. XM_005252402.5XP_005252459.1  BEN domain-containing protein 7 isoform X3

    Conserved Domains (1) summary
    pfam10523
    Location:310389
    BEN; BEN domain
  4. XM_011519393.3XP_011517695.1  BEN domain-containing protein 7 isoform X5

    Conserved Domains (1) summary
    pfam10523
    Location:295374
    BEN; BEN domain
  5. XM_017015915.1XP_016871404.1  BEN domain-containing protein 7 isoform X1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  6. XM_011519394.2XP_011517696.1  BEN domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011517696.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  7. XM_011519390.2XP_011517692.1  BEN domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011517692.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  8. XM_011519395.2XP_011517697.1  BEN domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011517697.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  9. XM_011519396.2XP_011517698.1  BEN domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011517698.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  10. XM_011519397.2XP_011517699.1  BEN domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011517699.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  11. XM_011519399.2XP_011517701.1  BEN domain-containing protein 7 isoform X7

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  12. XM_011519411.2XP_011517713.1  BEN domain-containing protein 7 isoform X17

    See identical proteins and their annotated locations for XP_011517713.1

    UniProtKB/Swiss-Prot
    Q8N7W2
    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  13. XM_011519401.2XP_011517703.1  BEN domain-containing protein 7 isoform X9

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  14. XM_011519403.2XP_011517705.1  BEN domain-containing protein 7 isoform X11

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  15. XM_024447885.1XP_024303653.1  BEN domain-containing protein 7 isoform X16

    Conserved Domains (1) summary
    smart01025
    Location:270354
    BEN; The BEN domain is found in diverse animal proteins
  16. XM_011519398.2XP_011517700.1  BEN domain-containing protein 7 isoform X6

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  17. XM_011519400.2XP_011517702.1  BEN domain-containing protein 7 isoform X8

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  18. XM_011519402.2XP_011517704.1  BEN domain-containing protein 7 isoform X10

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  19. XM_011519405.2XP_011517707.1  BEN domain-containing protein 7 isoform X13

    See identical proteins and their annotated locations for XP_011517707.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  20. XM_011519406.2XP_011517708.1  BEN domain-containing protein 7 isoform X13

    See identical proteins and their annotated locations for XP_011517708.1

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  21. XM_011519410.3XP_011517712.1  BEN domain-containing protein 7 isoform X16

    See identical proteins and their annotated locations for XP_011517712.1

    Conserved Domains (1) summary
    smart01025
    Location:270354
    BEN; The BEN domain is found in diverse animal proteins
  22. XM_011519404.3XP_011517706.1  BEN domain-containing protein 7 isoform X12

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  23. XM_011519407.1XP_011517709.1  BEN domain-containing protein 7 isoform X14

    Conserved Domains (1) summary
    pfam10523
    Location:271350
    BEN; BEN domain
  24. XM_011519412.1XP_011517714.1  BEN domain-containing protein 7 isoform X21

    Related
    ENSP00000498005.1, ENST00000649551.1

RNA

  1. XR_930482.2 RNA Sequence

  2. XR_930476.2 RNA Sequence

  3. XR_930478.2 RNA Sequence

  4. XR_002956970.1 RNA Sequence

  5. XR_002956969.1 RNA Sequence

  6. XR_930475.2 RNA Sequence

  7. XR_001747061.1 RNA Sequence

  8. XR_002956968.1 RNA Sequence

  9. XR_930473.1 RNA Sequence

  10. XR_930481.1 RNA Sequence

  11. XR_930480.2 RNA Sequence

  12. XR_930474.3 RNA Sequence

  13. XR_930479.1 RNA Sequence

  14. XR_930472.1 RNA Sequence

Support Center