DDN dendrin [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDNprovided by HGNC
Official Full Name: dendrinprovided by HGNC
Primary source: HGNC:HGNC:24458
See related: Ensembl:ENSG00000181418 MIM:610588; AllianceGenome:HGNC:24458
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
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cell projection and cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 36.7) and kidney (RPKM 8.9) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (48995149..48999375, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (48957324..48961550, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49388932..49393158, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

What's a GeneRIF?

The role of dendrin in IgA nephropathy.
Title: The role of dendrin in IgA nephropathy.
The number of dendrin positive nuclei was higher in podocytopathies than in inflammatory glomerular diseases and correlated with chronic tubulointerstitial changes and lower creatinine clearance.
Title: Expression of DENDRIN in several glomerular diseases and correlation to pathological parameters and renal failure - preliminary study.
Increasing number of dendrin-positive nuclei in the glomeruli suggest acute glomerular injury in IgA nephropathy.
Title: Translocation of dendrin to the podocyte nucleus in acute glomerular injury in patients with IgA nephropathy.
YAP binding to dendrin is a prosurvival mechanism in podocytes.
Title: Yes-associated protein (YAP) promotes cell survival by inhibiting proapoptotic dendrin signaling.
Relocation of dendrin to the podocyte nuclei is useful as a novel marker of podocyte injury in human glomerulopathy.
Title: Dendrin location in podocytes is associated with disease progression in animal and human glomerulopathy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
In minimal change nephrotic syndrome, dendrin and ZO-1 are re-distributed within the podocytes. Whether this is a cause or a consequence of foot process effacement remains unclear.
Title: Dendrin expression in glomerulogenesis and in human minimal change nephrotic syndrome.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

DDN_4685 (e-PCR)
- UniSTS:462858

A008J41 (e-PCR)
- UniSTS:1573

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dendrin

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.