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DENND6B DENN domain containing 6B [ Homo sapiens (human) ]

Gene ID: 414918, updated on 23-Nov-2021

Summary

Official Symbol
DENND6Bprovided by HGNC
Official Full Name
DENN domain containing 6Bprovided by HGNC
Primary source
HGNC:HGNC:32690
See related
Ensembl:ENSG00000205593
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
AFI1B; FAM116B
Expression
Broad expression in brain (RPKM 4.5), testis (RPKM 3.3) and 24 other tissues See more
Orthologs
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Genomic context

See DENND6B in Genome Data Viewer
Location:
22q13.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50309030..50327016, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50747459..50765441, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 11 Neighboring gene plexin B2 Neighboring gene uncharacterized LOC105373096 Neighboring gene protein phosphatase 6 regulatory subunit 2 Neighboring gene RNA, 7SL, cytoplasmic 500, pseudogene Neighboring gene microRNA 12114

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC33692

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein DENND6B
Names
DENN domain-containing protein 6B
DENN/MADD domain containing 6B
family with sequence similarity 116, member B
protein FAM116B

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_001001794.4NP_001001794.3  protein DENND6B

    See identical proteins and their annotated locations for NP_001001794.3

    Status: VALIDATED

    Source sequence(s)
    AA864612, BC031069, CR932344
    Consensus CDS
    CCDS46732.1
    UniProtKB/Swiss-Prot
    Q8NEG7
    Related
    ENSP00000391524.2, ENST00000413817.8
    Conserved Domains (2) summary
    pfam08616
    Location:250356
    SPA; Stabilization of polarity axis
    cl11519
    Location:151311
    DENN; DENN (AEX-3) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    50309030..50327016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452245.1XP_024308013.1  protein DENND6B isoform X6

    Conserved Domains (2) summary
    cl11519
    Location:151311
    DENN; DENN (AEX-3) domain
    cl26605
    Location:42178
    Avl9; Transport protein Avl9
  2. XM_011530693.3XP_011528995.1  protein DENND6B isoform X7

    Conserved Domains (2) summary
    pfam08616
    Location:250356
    SPA; Stabilization of polarity axis
    cl11519
    Location:151311
    DENN; DENN (AEX-3) domain
  3. XM_024452242.1XP_024308010.1  protein DENND6B isoform X1

    Conserved Domains (1) summary
    cl11519
    Location:201360
    DENN; DENN (AEX-3) domain
  4. XM_011530692.3XP_011528994.1  protein DENND6B isoform X2

    Conserved Domains (2) summary
    pfam08616
    Location:299405
    SPA; Stabilization of polarity axis
    cl11519
    Location:201360
    DENN; DENN (AEX-3) domain
  5. XM_024452243.1XP_024308011.1  protein DENND6B isoform X4

    Conserved Domains (2) summary
    pfam08616
    Location:275381
    SPA; Stabilization of polarity axis
    cl11519
    Location:176336
    DENN; DENN (AEX-3) domain
  6. XM_005261914.4XP_005261971.1  protein DENND6B isoform X3

    Conserved Domains (2) summary
    pfam08616
    Location:299405
    SPA; Stabilization of polarity axis
    cl11519
    Location:201360
    DENN; DENN (AEX-3) domain
  7. XM_024452244.1XP_024308012.1  protein DENND6B isoform X5

    Conserved Domains (2) summary
    pfam08616
    Location:275381
    SPA; Stabilization of polarity axis
    cl11519
    Location:176336
    DENN; DENN (AEX-3) domain
  8. XM_024452246.1XP_024308014.1  protein DENND6B isoform X8

    Conserved Domains (1) summary
    pfam08616
    Location:43149
    SPA; Stabilization of polarity axis
  9. XM_024452247.1XP_024308015.1  protein DENND6B isoform X9

    Conserved Domains (1) summary
    pfam08616
    Location:295
    SPA; Stabilization of polarity axis
  10. XM_024452248.1XP_024308016.1  protein DENND6B isoform X9

    Conserved Domains (1) summary
    pfam08616
    Location:295
    SPA; Stabilization of polarity axis

RNA

  1. XR_001755246.2 RNA Sequence

  2. XR_430477.4 RNA Sequence

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