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

    Gene ID: 79641, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    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

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    See ROGDI in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4796968..4802633, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4826450..4832187, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4846969..4852634, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein axonemal assembly factor 8 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene septin 12 Neighboring gene small integral membrane protein 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4852142-4852642 Neighboring gene Sharpr-MPRA regulatory region 4562 Neighboring gene glyoxylate reductase 1 homolog Neighboring gene uncharacterized LOC124903638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4897448-4898290 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:4901871-4903070 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:4908973-4910172 Neighboring gene ubinuclein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4920799-4920984

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation. Gowda VK, et al. Clin Dysmorphol, 2023 Oct 1. PMID 37646740
    2. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Schossig A, et al. Am J Hum Genet, 2012 Apr 6. PMID 22424600, Free PMC Article
    3. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Tucci A, et al. Hum Mutat, 2013 Feb. PMID 23086778, Free PMC Article
    4. Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. Mory A, et al. Pediatr Neurol, 2014 Apr. PMID 24630287
    5. The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome. Lee H, et al. Sci Rep, 2017 Jun 21. PMID 28638151, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ22386

    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 bone mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in locomotion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in locomotor rhythm IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pH reduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus 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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    NEW Try the new Transcript table

    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

    1. NG_032174.1 RefSeqGene

      Range
      5001..10989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_455

    mRNA and Protein(s)

    1. 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

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4796968..4802633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720947.5 → XP_006721010.1  protein rogdi homolog isoform X1

      See identical proteins and their annotated locations for XP_006721010.1

      UniProtKB/TrEMBL
      K7EPS3
      Conserved Domains (1) summary
      pfam10259
      Location:18 → 283
      Rogdi_lz; Rogdi leucine zipper containing protein

    2. XM_047434636.1 → XP_047290592.1  protein rogdi homolog isoform X2

      UniProtKB/TrEMBL
      B3KNQ1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4826450..4832187 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313929.1 → XP_054169904.1  protein rogdi homolog isoform X1

      UniProtKB/TrEMBL
      K7EPS3

    2. XM_054313930.1 → XP_054169905.1  protein rogdi homolog isoform X2

      UniProtKB/TrEMBL
      B3KNQ1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZN7.1 GenPept UniProtKB/Swiss-Prot:Q9GZN7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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