The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by R... See more...

Aliases for POLR1D Gene

Aliases for POLR1D Gene

  • RNA Polymerase I And III Subunit D 2 3 5
  • RPA16 2 3 4
  • AC19 2 3 4
  • DNA-Directed RNA Polymerases I And III Subunit RPAC2 3 4
  • Polymerase (RNA) I Polypeptide D, 16kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit D 3 4
  • RNA Polymerases I And III Subunit AC2 3 4
  • RNA Polymerase I Subunit D 2 3
  • RPO1-3 2 3
  • RPAC2 2 3
  • RPC16 3 4
  • RPA9 2 3
  • RNA Polymerase I 16 KDa Subunit 4
  • Polymerase (RNA) I Subunit D 3
  • Protein POLR1D, Isoform 2 4
  • Protein POLR1D 3
  • MGC9850 2
  • POLR1C 3
  • POLR1D 5
  • HRPA19 4
  • TCS2 3

External Ids for POLR1D Gene

Previous GeneCards Identifiers for POLR1D Gene

  • GC13P022176
  • GC13P027125
  • GC13P025994
  • GC13P025993
  • GC13P027093
  • GC13P028194
  • GC13P009017

Summaries for POLR1D Gene

Entrez Gene Summary for POLR1D Gene

  • The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

GeneCards Summary for POLR1D Gene

POLR1D (RNA Polymerase I And III Subunit D) is a Protein Coding gene. Diseases associated with POLR1D include Treacher Collins Syndrome 2 and Treacher Collins Syndrome 1. Among its related pathways are RNA Polymerase III Transcription Initiation and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and RNA polymerase I activity. An important paralog of this gene is ENSG00000267645.

UniProtKB/Swiss-Prot Summary for POLR1D Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.

Gene Wiki entry for POLR1D Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1D Gene

Genomics for POLR1D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1D Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J027617 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 281.6 +0.1 101 5.9 SP1 ZNF207 MYC IKZF1 ZNF600 JUND POLR2A ATF3 ZSCAN16 ZIC2 POLR1D LNX2 NONHSAG013086.2 PAN3
GH13J027599 Enhancer 0.9 Ensembl ENCODE 36.3 -20.1 -20141 3.6 NCOR1 JUND ZNF217 EP300 CTBP1 RFX5 TAL1 STAT3 ZNF316 TEAD3 POLR1D LNX2 GSX1 NONHSAG013086.2 HSALNG0095958 MTIF3
GH13J027641 Enhancer 1.1 Ensembl ENCODE dbSUPER 25.3 +23.1 23091 4.3 JUND CEBPA HOMEZ FOXA2 KDM6A SMAD4 SAP130 ETV4 RARA DMAP1 POLR1D LNX2 RNU6-63P HSALNG0095961 lnc-GSX1-2 GSX1
GH13J028136 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +519.0 519028 6.3 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC ZMYM3 POLR2A NFIC ZIC2 PAN3-AS1 PAN3 RNU6-82P SNORA27 POLR1D EEF1A1P3 piR-32214-133 FLT1
GH13J027578 Enhancer 0.8 Ensembl ENCODE 30.7 -42.0 -41957 0.8 FOXA2 CTBP1 FOSL2 SIN3A FOXP1 PKNOX1 FOXA1 SCRT1 HLF MNT POLR1D LNX2 HSALNG0095958 NONHSAG013086.2 MTIF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR1D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1D

Top Transcription factor binding sites by QIAGEN in the POLR1D gene promoter:
  • AhR
  • Arnt
  • FOXI1
  • Lmo2
  • Pax-5
  • Pbx1a

Genomic Locations for POLR1D Gene

Latest Assembly
chr13:27,620,742-27,744,237
(GRCh38/hg38)
Size:
123,496 bases
Orientation:
Plus strand

Previous Assembly
chr13:28,194,880-28,241,548
(GRCh37/hg19 by Entrez Gene)
Size:
46,669 bases
Orientation:
Plus strand

chr13:28,194,903-28,241,548
(GRCh37/hg19 by Ensembl)
Size:
46,646 bases
Orientation:
Plus strand

Genomic View for POLR1D Gene

Genes around POLR1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1D Gene

Proteins for POLR1D Gene

  • Protein details for POLR1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPB6-RPAC2_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I and III subunit RPAC2
    Protein Accession:
    P0DPB6
    Secondary Accessions:
    • Q5TBX2
    • Q96BR3
    • Q9Y2S0

    Protein attributes for POLR1D Gene

    Size:
    133 amino acids
    Molecular mass:
    15237 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively.

    Alternative splice isoforms for POLR1D Gene

    UniProtKB/Swiss-Prot:
  • Protein details for POLR1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPB5-RPC22_HUMAN
    Recommended name:
    Protein POLR1D, isoform 2
    Protein Accession:
    P0DPB5
    Secondary Accessions:
    • Q5TBX2
    • Q96BR3
    • Q9Y2S0

    Protein attributes for POLR1D Gene

    Size:
    122 amino acids
    Molecular mass:
    14332 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for POLR1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1D Gene

Post-translational modifications for POLR1D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for POLR1D

No data available for DME Specific Peptides for POLR1D Gene

Domains & Families for POLR1D Gene

Gene Families for POLR1D Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for POLR1D Gene

Suggested Antigen Peptide Sequences for POLR1D Gene

GenScript: Design optimal peptide antigens:
  • POLR1D protein (Q7Z776_HUMAN)
  • hRPA19 (RPAC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DPB6

UniProtKB/Swiss-Prot:

RPC22_HUMAN :
  • Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.
Family:
  • Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1D: view

Function for POLR1D Gene

Molecular function for POLR1D Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively.

Phenotypes From GWAS Catalog for POLR1D Gene

Gene Ontology (GO) - Molecular Function for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003899 contributes_to DNA-directed 5'-3' RNA polymerase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 16189514
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with POLR1D: view
genes like me logo Genes that share phenotypes with POLR1D: view

Human Phenotype Ontology for POLR1D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1D

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR1D Gene

Localization for POLR1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1D Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLR1D gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005666 RNA polymerase III complex IBA 21873635
GO:0005736 RNA polymerase I complex IEA,IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR1D: view

Pathways & Interactions for POLR1D Gene

genes like me logo Genes that share pathways with POLR1D: view

Pathways by source for POLR1D Gene

1 GeneGo (Thomson Reuters) pathway for POLR1D Gene
  • ATP/ITP metabolism
3 Qiagen pathways for POLR1D Gene
  • Assembly of RNA Polymerase-I Initiation Complex
  • DNA Repair Mechanisms
  • Inhibition of Ribosome Biogenesis by p14(ARF)

Gene Ontology (GO) - Biological Process for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0032481 positive regulation of type I interferon production TAS --
genes like me logo Genes that share ontologies with POLR1D: view

No data available for SIGNOR curated interactions for POLR1D Gene

Drugs & Compounds for POLR1D Gene

(8) Drugs for POLR1D Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for POLR1D Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8

(3) ApexBio Compounds for POLR1D Gene

Compound Action Cas Number
BMH-21 RNA polymerase I Inhibitior 896705-16-1
CX-5461 Pol I-mediated rRNA synthesis inhibitor 1138549-36-6
Foscarnet Sodium 63585-09-1
genes like me logo Genes that share compounds with POLR1D: view

Drug products for research

Transcripts for POLR1D Gene

mRNA/cDNA for POLR1D Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1D

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1D Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for POLR1D Gene

GeneLoc Exon Structure for
POLR1D

Expression for POLR1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLR1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR1D Gene

This gene is overexpressed in Islet of Langerhans (12.9), Peripheral blood mononuclear cells (12.8), Retina (6.7), Adrenal (6.5), and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLR1D Gene



Protein tissue co-expression partners for POLR1D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1D

SOURCE GeneReport for Unigene cluster for POLR1D Gene:

Hs.507584

Evidence on tissue expression from TISSUES for POLR1D Gene

  • Nervous system(4.8)
  • Eye(4.5)
  • Intestine(4.4)
  • Lung(2.9)
  • Blood(2.8)
  • Skin(2.6)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Heart(2.3)
  • Kidney(2.3)
  • Bone marrow(2.3)
  • Muscle(2.2)
  • Liver(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with POLR1D: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLR1D Gene

Orthologs for POLR1D Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLR1D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POLR1D 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLR1D 29 30
  • 97.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 94 (a)
OneToMany
POLR1D 29 30
  • 91.23 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Polr1d 29 16 30
  • 92.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLR1D 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLR1D 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POLR1D 29 30
  • 74.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLR1D 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495369 29
  • 74.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii polr1d 29 30
  • 67.27 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009644 29
  • 56.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)37Cg 29 30
  • 54.51 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rpac-19 30
  • 26 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23760g 29
  • 59.06 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC19 29 30 32
  • 55.46 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL220C 29
  • 55.45 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc19 29
  • 62.03 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00419 29
  • 54.96 (n)
Species where no ortholog for POLR1D was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for POLR1D Gene

ENSEMBL:
Gene Tree for POLR1D (if available)
TreeFam:
Gene Tree for POLR1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1D: view image
Alliance of Genome Resources:
Additional Orthologs for POLR1D

Paralogs for POLR1D Gene

Paralogs for POLR1D Gene

(4) SIMAP similar genes for POLR1D Gene using alignment to 2 proteins:

  • RPAC2_HUMAN
  • Q7Z776_HUMAN
genes like me logo Genes that share paralogs with POLR1D: view

Variants for POLR1D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1D Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1032714 Uncertain Significance: Treacher Collins syndrome 2 27,623,062(+) A/G
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)
MISSENSE_VARIANT,INTRON
rs101436915 Treacher Collins syndrome 2 (TCS2) [MIM:613717] p.Arg56Cys
rs118191175 Benign: not provided 27,665,862(+) A/G
NM_152705.3(POLR1D):c.278A>G (p.His93Arg)
MISSENSE
rs144597856 Conflicting Interpretations: not provided 27,623,025(+) C/T
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
SYNONYMOUS_VARIANT,INTRON
rs1555271293 Uncertain Significance: not provided 27,622,904(+) C/T
NM_015972.4(POLR1D):c.56C>T (p.Ala19Val)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLR1D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POLR1D Gene

Variant ID Type Subtype PubMed ID
nsv1039183 CNV loss 25217958
nsv523599 CNV loss 19592680
nsv561388 CNV loss 21841781

Variation tolerance for POLR1D Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR1D Gene

Human Gene Mutation Database (HGMD)
POLR1D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1D
Leiden Open Variation Database (LOVD)
POLR1D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1D Gene

Disorders for POLR1D Gene

MalaCards: The human disease database

(17) MalaCards diseases for POLR1D Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RPC22_HUMAN
  • Treacher Collins syndrome 2 (TCS2) [MIM:613717]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. {ECO:0000269 PubMed:21131976}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for POLR1D

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POLR1D: view

No data available for Genatlas for POLR1D Gene

Publications for POLR1D Gene

  1. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PMID: 21131976) Dauwerse JG … Wieczorek D (Nature genetics 2011) 3 4 72
  2. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PMID: 12391170) Hu P … Hernandez N (Molecular and cellular biology 2002) 2 3 4
  3. Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. (PMID: 21471979) Kumar V … Matsuda K (Journal of human genetics 2011) 3 40
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 40
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 40

Products for POLR1D Gene

Sources for POLR1D Gene