ROGDI rogdi atypical leucine zipper [Homo sapiens (human)] - Gene

Summary

Official Symbol: ROGDIprovided by HGNC
Official Full Name: rogdi atypical leucine zipperprovided by HGNC
Primary source: HGNC:HGNC:29478
See related: Ensembl:ENSG00000067836 MIM:614574; AllianceGenome:HGNC:29478
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KTZS; RAV2; ROGD1
Summary: Involved in brain development; neurogenesis; and odontogenesis of dentin-containing tooth. Located in nuclear envelope. Implicated in Kohlschutter-Tonz syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 26.0), bone marrow (RPKM 23.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4796968..4802633, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4826450..4832187, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4846969..4852634, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

What's a GeneRIF?

Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.
Title: Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.
Study provides structural insights into how certain mutations in Rogdi affect its structure and cause Kohlschutter-Tonz syndrome, which has important implications for the development of pharmaceutical agents against this debilitating neurological disease.
Title: The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.
We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.
Title: Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals.
Title: A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.
Title: Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

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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

Associated conditions

Description	Tests
Amelocerebrohypohidrotic syndrome MedGen: C0406740 OMIM: 226750 GeneReviews: Not available	Compare labs

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

SHGC-61126 (e-PCR)
- UniSTS:3120

SHGC-60805 (e-PCR)
- UniSTS:38722

RH70097 (e-PCR)
- UniSTS:86721

RH44934 (e-PCR)
- UniSTS:87777

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RAVE complex	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein rogdi homolog

Names: leucine zipper domain protein; rogdi homolog

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.

Genomic

NG_032174.1 RefSeqGene

Range

5001..10989

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_455

mRNA and Protein(s)

NM_024589.3 → NP_078865.1 protein rogdi homolog

See identical proteins and their annotated locations for NP_078865.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AA740842, AC020663, BC012901

Consensus CDS

CCDS10523.1

UniProtKB/Swiss-Prot

Q6IA00, Q9GZN7

UniProtKB/TrEMBL

K7EPS3

Related

ENSP00000322832.6, ENST00000322048.12

Conserved Domains (1) summary

pfam10259
Location:18 → 276

Rogdi_lz; Rogdi leucine zipper containing protein

RNA

NR_046480.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA740842, AK098348

Related

ENST00000587843.5