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DENND2D DENN domain containing 2D [ Homo sapiens (human) ]

Gene ID: 79961, updated on 11-Sep-2019

Summary

Official Symbol
DENND2Dprovided by HGNC
Official Full Name
DENN domain containing 2Dprovided by HGNC
Primary source
HGNC:HGNC:26192
See related
Ensembl:ENSG00000162777 MIM:615111
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
Expression
Broad expression in lymph node (RPKM 32.5), appendix (RPKM 17.0) and 20 other tissues See more
Orthologs

Genomic context

See DENND2D in Genome Data Viewer
Location:
1p13.3-p13.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (111185969..111204791, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111728591..111747160, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 54 Neighboring gene DNA damage regulated autophagy modulator 2 Neighboring gene choline/ethanolamine phosphotransferase 1 Neighboring gene uncharacterized LOC107985180 Neighboring gene chitinase 3 like 2 Neighboring gene chitinase, acidic pseudogene 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22457, FLJ32619

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
DENN domain-containing protein 2D
Names
DENN/MADD domain containing 2D
RP5-1180E21.2

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_001271833.1NP_001258762.1  DENN domain-containing protein 2D isoform b

    See identical proteins and their annotated locations for NP_001258762.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AK026110, AL355816, BP270686
    Consensus CDS
    CCDS60219.1
    UniProtKB/Swiss-Prot
    Q9H6A0
    UniProtKB/TrEMBL
    A0A024R0H5
    Related
    ENSP00000358767.5, ENST00000369752.5
    Conserved Domains (3) summary
    smart00801
    Location:369434
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:47139
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:146330
    DENN; DENN (AEX-3) domain
  2. NM_024901.5NP_079177.2  DENN domain-containing protein 2D isoform a

    See identical proteins and their annotated locations for NP_079177.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL355816, BC004557
    Consensus CDS
    CCDS831.1
    UniProtKB/Swiss-Prot
    Q9H6A0
    UniProtKB/TrEMBL
    A0A024R0G2
    Related
    ENSP00000350266.4, ENST00000357640.9
    Conserved Domains (3) summary
    smart00801
    Location:372437
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:50142
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:149333
    DENN; DENN (AEX-3) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    111185969..111204791 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002388.1XP_016857877.1  DENN domain-containing protein 2D isoform X4

    Conserved Domains (2) summary
    smart00801
    Location:192257
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:4153
    DENN; DENN (AEX-3) domain
  2. XM_011542189.1XP_011540491.1  DENN domain-containing protein 2D isoform X3

    See identical proteins and their annotated locations for XP_011540491.1

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  3. XM_011542190.2XP_011540492.1  DENN domain-containing protein 2D isoform X2

    See identical proteins and their annotated locations for XP_011540492.1

    Conserved Domains (3) summary
    smart00801
    Location:360425
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:38130
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:137321
    DENN; DENN (AEX-3) domain
  4. XM_006710923.1XP_006710986.1  DENN domain-containing protein 2D isoform X3

    See identical proteins and their annotated locations for XP_006710986.1

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  5. XM_017002386.1XP_016857875.1  DENN domain-containing protein 2D isoform X4

    Conserved Domains (2) summary
    smart00801
    Location:192257
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:4153
    DENN; DENN (AEX-3) domain
  6. XM_006710924.1XP_006710987.1  DENN domain-containing protein 2D isoform X3

    See identical proteins and their annotated locations for XP_006710987.1

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  7. XM_006710921.2XP_006710984.2  DENN domain-containing protein 2D isoform X1

    Conserved Domains (3) summary
    smart00801
    Location:386451
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:64156
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:163347
    DENN; DENN (AEX-3) domain
  8. XM_024449891.1XP_024305659.1  DENN domain-containing protein 2D isoform X3

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  9. XM_017002387.1XP_016857876.1  DENN domain-containing protein 2D isoform X4

    Conserved Domains (2) summary
    smart00801
    Location:192257
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:4153
    DENN; DENN (AEX-3) domain
  10. XM_011542187.1XP_011540489.1  DENN domain-containing protein 2D isoform X2

    See identical proteins and their annotated locations for XP_011540489.1

    Conserved Domains (3) summary
    smart00801
    Location:360425
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    smart00800
    Location:38130
    uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:137321
    DENN; DENN (AEX-3) domain
  11. XM_006710922.1XP_006710985.1  DENN domain-containing protein 2D isoform X3

    See identical proteins and their annotated locations for XP_006710985.1

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  12. XM_024449898.1XP_024305666.1  DENN domain-containing protein 2D isoform X4

    Conserved Domains (2) summary
    smart00801
    Location:192257
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:4153
    DENN; DENN (AEX-3) domain
  13. XM_024449890.1XP_024305658.1  DENN domain-containing protein 2D isoform X3

    Conserved Domains (2) summary
    smart00801
    Location:316381
    dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
    pfam02141
    Location:93277
    DENN; DENN (AEX-3) domain
  14. XM_017002389.1XP_016857878.1  DENN domain-containing protein 2D isoform X5

RNA

  1. XR_946764.1 RNA Sequence

  2. XR_946765.1 RNA Sequence

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