psui3905/ncbi_genes_summary huggingface dataset:
DUTP5, Official Symbol DUTP5provided by HGNC Official Full Name deoxyuridine triphosphatase pseudogene 5provided by HGNC Primary source HGNC:HGNC:39518 See related AllianceGenome:HGNC:39518 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUTP6, Official Symbol DUTP6provided by HGNC Official Full Name deoxyuridine triphosphatase pseudogene 6provided by HGNC Primary source HGNC:HGNC:39519 See related Ensembl:ENSG00000225171 AllianceGenome:HGNC:39519 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUTP7, Official Symbol DUTP7provided by HGNC Official Full Name deoxyuridine triphosphatase pseudogene 7provided by HGNC Primary source HGNC:HGNC:39520 See related Ensembl:ENSG00000250473 AllianceGenome:HGNC:39520 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4, Official Symbol DUX4provided by HGNC Official Full Name double homeobox 4provided by HGNC Primary source HGNC:HGNC:50800 See related Ensembl:ENSG00000260596 MIM:606009; AllianceGenome:HGNC:50800 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 Also known as DUX4L Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Annotation information Note: GeneID: 22947 was previously named DUX4/double homeobox 4. GeneID: 100288687 is currently assigned the official DUX4/double homeobox 4 gene name. [19 Jun 2018] Expression Low expression observed in reference dataset See more Orthologs all
DUX4L1, Official Symbol DUX4L1provided by HGNC Official Full Name double homeobox 4 like 1 (pseudogene)provided by HGNC Primary source HGNC:HGNC:3082 See related Ensembl:ENSG00000280757 AllianceGenome:HGNC:3082 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUX4; DUX10 Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014] Annotation information Note: GeneID: 22947 was previously named DUX4/double homeobox 4. GeneID: 100288687 is currently assigned the official DUX4/double homeobox 4 gene name. [19 Jun 2018]
DUX4L10, Official Symbol DUX4L10provided by HGNC Official Full Name double homeobox 4 like 10 (pseudogene)provided by HGNC Primary source HGNC:HGNC:31354 See related Ensembl:ENSG00000278664 AllianceGenome:HGNC:31354 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUX10
DUX4L11, Official Symbol DUX4L11provided by HGNC Official Full Name double homeobox 4 like 11 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38687 See related Ensembl:ENSG00000278761 AllianceGenome:HGNC:38687 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L12, Official Symbol DUX4L12provided by HGNC Official Full Name double homeobox 4 like 12 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38671 See related Ensembl:ENSG00000278790 AllianceGenome:HGNC:38671 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L13, Official Symbol DUX4L13provided by HGNC Official Full Name double homeobox 4 like 13 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38672 See related Ensembl:ENSG00000276046 AllianceGenome:HGNC:38672 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L14, Official Symbol DUX4L14provided by HGNC Official Full Name double homeobox 4 like 14 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38673 See related Ensembl:ENSG00000276904 AllianceGenome:HGNC:38673 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L15, Official Symbol DUX4L15provided by HGNC Official Full Name double homeobox 4 like 15 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38674 See related Ensembl:ENSG00000278641 AllianceGenome:HGNC:38674 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L16, Official Symbol DUX4L16provided by HGNC Official Full Name double homeobox 4 like 16 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37719 See related Ensembl:ENSG00000258567 AllianceGenome:HGNC:37719 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUXY1
DUX4L17, Official Symbol DUX4L17provided by HGNC Official Full Name double homeobox 4 like 17 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37717 See related Ensembl:ENSG00000259154 AllianceGenome:HGNC:37717 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUXY3
DUX4L18, Official Symbol DUX4L18provided by HGNC Official Full Name double homeobox 4 like 18 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37716 See related Ensembl:ENSG00000259029 AllianceGenome:HGNC:37716 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUXY2
DUX4L19, Official Symbol DUX4L19provided by HGNC Official Full Name double homeobox 4 like 19 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37718 See related Ensembl:ENSG00000258991 AllianceGenome:HGNC:37718 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUXY4
DUX4L20, Official Symbol DUX4L20provided by HGNC Official Full Name double homeobox 4 like 20 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50801 See related Ensembl:ENSG00000276164 AllianceGenome:HGNC:50801 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L21, Official Symbol DUX4L21provided by HGNC Official Full Name double homeobox 4 like 21 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50802 See related Ensembl:ENSG00000275610 AllianceGenome:HGNC:50802 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L22, Official Symbol DUX4L22provided by HGNC Official Full Name double homeobox 4 like 22 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50803 See related Ensembl:ENSG00000277274 AllianceGenome:HGNC:50803 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L23, Official Symbol DUX4L23provided by HGNC Official Full Name double homeobox 4 like 23 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50804 See related Ensembl:ENSG00000276964 AllianceGenome:HGNC:50804 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L24, Official Symbol DUX4L24provided by HGNC Official Full Name double homeobox 4 like 24 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50805 See related Ensembl:ENSG00000274599 AllianceGenome:HGNC:50805 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L25, Official Symbol DUX4L25provided by HGNC Official Full Name double homeobox 4 like 25 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50806 See related Ensembl:ENSG00000280337 AllianceGenome:HGNC:50806 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L26, Official Symbol DUX4L26provided by HGNC Official Full Name double homeobox 4 like 26 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50807 See related Ensembl:ENSG00000236138 AllianceGenome:HGNC:50807 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L27, Official Symbol DUX4L27provided by HGNC Official Full Name double homeobox 4 like 27 (pseudogene)provided by HGNC Primary source HGNC:HGNC:50808 See related Ensembl:ENSG00000258794 AllianceGenome:HGNC:50808 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L28, Official Symbol DUX4L28provided by HGNC Official Full Name double homeobox 4 like 28 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51605 See related Ensembl:ENSG00000279626 AllianceGenome:HGNC:51605 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L29, Official Symbol DUX4L29provided by HGNC Official Full Name double homeobox 4 like 29 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51606 See related Ensembl:ENSG00000237635 AllianceGenome:HGNC:51606 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L3, Official Symbol DUX4L3provided by HGNC Official Full Name double homeobox 4 like 3 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38688 See related Ensembl:ENSG00000281627 AllianceGenome:HGNC:38688 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L31, Official Symbol DUX4L31provided by HGNC Official Full Name double homeobox 4 like 31 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51770 See related Ensembl:ENSG00000231411 AllianceGenome:HGNC:51770 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L32, Official Symbol DUX4L32provided by HGNC Official Full Name double homeobox 4 like 32 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51771 See related Ensembl:ENSG00000283069 AllianceGenome:HGNC:51771 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L33, Official Symbol DUX4L33provided by HGNC Official Full Name double homeobox 4 like 33 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51789 See related Ensembl:ENSG00000282894 AllianceGenome:HGNC:51789 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L34, Official Symbol DUX4L34provided by HGNC Official Full Name double homeobox 4 like 34 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51772 See related Ensembl:ENSG00000282935 AllianceGenome:HGNC:51772 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L37, Official Symbol DUX4L37provided by HGNC Official Full Name double homeobox 4 like 37 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51775 See related Ensembl:ENSG00000283020 AllianceGenome:HGNC:51775 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L4, Official Symbol DUX4L4provided by HGNC Official Full Name double homeobox 4 like 4 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38686 See related Ensembl:ENSG00000258834 AllianceGenome:HGNC:38686 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L45, Official Symbol DUX4L45provided by HGNC Official Full Name double homeobox 4 like 45 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51783 See related Ensembl:ENSG00000261440 AllianceGenome:HGNC:51783 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L46, Official Symbol DUX4L46provided by HGNC Official Full Name double homeobox 4 like 46 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51784 See related AllianceGenome:HGNC:51784 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L47, Official Symbol DUX4L47provided by HGNC Official Full Name double homeobox 4 like 47 (pseudogene)provided by HGNC Primary source HGNC:HGNC:51785 See related Ensembl:ENSG00000260207 AllianceGenome:HGNC:51785 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DUX4L5, Official Symbol DUX4L5provided by HGNC Official Full Name double homeobox 4 like 5 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38689 See related Ensembl:ENSG00000280799 AllianceGenome:HGNC:38689 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L6, Official Symbol DUX4L6provided by HGNC Official Full Name double homeobox 4 like 6 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37265 See related Ensembl:ENSG00000281058 AllianceGenome:HGNC:37265 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L7, Official Symbol DUX4L7provided by HGNC Official Full Name double homeobox 4 like 7 (pseudogene)provided by HGNC Primary source HGNC:HGNC:37266 See related Ensembl:ENSG00000281652 AllianceGenome:HGNC:37266 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L8, Official Symbol DUX4L8provided by HGNC Official Full Name double homeobox 4 like 8 (pseudogene)provided by HGNC Primary source HGNC:HGNC:38670 See related Ensembl:ENSG00000281720 MIM:611442; AllianceGenome:HGNC:38670 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUX2 Summary This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
DUX4L9, Official Symbol DUX4L9provided by HGNC Official Full Name double homeobox 4 like 9 (pseudogene)provided by HGNC Primary source HGNC:HGNC:33855 See related Ensembl:ENSG00000224807 MIM:615581; AllianceGenome:HGNC:33855 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DUX4C Summary Enables transcription cis-regulatory region binding activity. Involved in cell population proliferation and positive regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
DUXA, Official Symbol DUXAprovided by HGNC Official Full Name double homeobox Aprovided by HGNC Primary source HGNC:HGNC:32179 See related Ensembl:ENSG00000258873 MIM:611168; AllianceGenome:HGNC:32179 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 Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
DUXAP1, Official Symbol DUXAP1provided by HGNC Official Full Name double homeobox A pseudogene 1provided by HGNC Primary source HGNC:HGNC:32180 See related Ensembl:ENSG00000259056 AllianceGenome:HGNC:32180 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXAP10, Official Symbol DUXAP10provided by HGNC Official Full Name double homeobox A pseudogene 10provided by HGNC Primary source HGNC:HGNC:32189 See related AllianceGenome:HGNC:32189 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LNMAT1 Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 13.8), testis (RPKM 6.4) and 9 other tissues See more
DUXAP3, Official Symbol DUXAP3provided by HGNC Official Full Name double homeobox A pseudogene 3provided by HGNC Primary source HGNC:HGNC:32182 See related AllianceGenome:HGNC:32182 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXAP4, Official Symbol DUXAP4provided by HGNC Official Full Name double homeobox A pseudogene 4provided by HGNC Primary source HGNC:HGNC:32183 See related AllianceGenome:HGNC:32183 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXAP5, Official Symbol DUXAP5provided by HGNC Official Full Name double homeobox A pseudogene 5provided by HGNC Primary source HGNC:HGNC:32184 See related AllianceGenome:HGNC:32184 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXAP6, Official Symbol DUXAP6provided by HGNC Official Full Name double homeobox A pseudogene 6provided by HGNC Primary source HGNC:HGNC:32185 See related AllianceGenome:HGNC:32185 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXAP9, Official Symbol DUXAP9provided by HGNC Official Full Name double homeobox A pseudogene 9provided by HGNC Primary source HGNC:HGNC:32188 See related AllianceGenome:HGNC:32188 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LNMAT1; LINC01296 Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. [provided by RefSeq, Jul 2008]
DUXB, Official Symbol DUXBprovided by HGNC Official Full Name double homeobox Bprovided by HGNC Primary source HGNC:HGNC:33345 See related Ensembl:ENSG00000282757 MIM:618698; AllianceGenome:HGNC:33345 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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
DVL1, Official Symbol DVL1provided by HGNC Official Full Name dishevelled segment polarity protein 1provided by HGNC Primary source HGNC:HGNC:3084 See related Ensembl:ENSG00000107404 MIM:601365; AllianceGenome:HGNC:3084 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 DVL; DRS2; DVL1L1; DVL1P1 Summary DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.9), fat (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
DVL2, Official Symbol DVL2provided by HGNC Official Full Name dishevelled segment polarity protein 2provided by HGNC Primary source HGNC:HGNC:3086 See related Ensembl:ENSG00000004975 MIM:602151; AllianceGenome:HGNC:3086 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 Summary This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 14.8), endometrium (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
DVL3, Official Symbol DVL3provided by HGNC Official Full Name dishevelled segment polarity protein 3provided by HGNC Primary source HGNC:HGNC:3087 See related Ensembl:ENSG00000161202 MIM:601368; AllianceGenome:HGNC:3087 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 DRS3 Summary This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 25.5), endometrium (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
DXO, Official Symbol DXOprovided by HGNC Official Full Name decapping exoribonucleaseprovided by HGNC Primary source HGNC:HGNC:2992 See related Ensembl:ENSG00000204348 MIM:605996; AllianceGenome:HGNC:2992 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 NG6; RAI1; DOM3L; DOM3Z Summary This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.8), adrenal (RPKM 16.9) and 25 other tissues See more Orthologs mouse all
DYDC1, Official Symbol DYDC1provided by HGNC Official Full Name DPY30 domain containing 1provided by HGNC Primary source HGNC:HGNC:23460 See related Ensembl:ENSG00000170788 MIM:615154; AllianceGenome:HGNC:23460 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 DPY30D1 Summary This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Restricted expression toward testis (RPKM 10.8) See more Orthologs mouse all
DYDC2, Official Symbol DYDC2provided by HGNC Official Full Name DPY30 domain containing 2provided by HGNC Primary source HGNC:HGNC:23468 See related Ensembl:ENSG00000133665 AllianceGenome:HGNC:23468 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 Summary This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Biased expression in testis (RPKM 6.0), lung (RPKM 1.3) and 1 other tissue See more Orthologs mouse all
DYM, Official Symbol DYMprovided by HGNC Official Full Name dymeclinprovided by HGNC Primary source HGNC:HGNC:21317 See related Ensembl:ENSG00000141627 MIM:607461; AllianceGenome:HGNC:21317 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 DMC; SMC Summary This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in thyroid (RPKM 6.8), ovary (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
DYNAP, Official Symbol DYNAPprovided by HGNC Official Full Name dynactin associated proteinprovided by HGNC Primary source HGNC:HGNC:26808 See related Ensembl:ENSG00000178690 MIM:619421; AllianceGenome:HGNC:26808 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 Also known as C18orf26 Summary Involved in several processes, including activation of protein kinase B activity; cellular response to ergosterol; and positive regulation of cell population proliferation. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 7.4) See more Orthologs all
DYNC1H1, Official Symbol DYNC1H1provided by HGNC Official Full Name dynein cytoplasmic 1 heavy chain 1provided by HGNC Primary source HGNC:HGNC:2961 See related Ensembl:ENSG00000197102 MIM:600112; AllianceGenome:HGNC:2961 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 p22; DHC1; DNCL; DYHC; HL-3; CMT2O; DHC1a; DNCH1; DNECL; Dnchc1; CDCBM13; SMALED1 Summary Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in brain (RPKM 38.0), skin (RPKM 23.8) and 25 other tissues See more Orthologs mouse all
DYNC1I1, Official Symbol DYNC1I1provided by HGNC Official Full Name dynein cytoplasmic 1 intermediate chain 1provided by HGNC Primary source HGNC:HGNC:2963 See related Ensembl:ENSG00000158560 MIM:603772; AllianceGenome:HGNC:2963 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 Also known as DNCI1; DNCIC1 Summary Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 14.7), adrenal (RPKM 3.3) and 4 other tissues See more Orthologs mouse all
DYNC1I2, Official Symbol DYNC1I2provided by HGNC Official Full Name dynein cytoplasmic 1 intermediate chain 2provided by HGNC Primary source HGNC:HGNC:2964 See related Ensembl:ENSG00000077380 MIM:603331; AllianceGenome:HGNC:2964 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 IC2; DIC74; DNCI2; NEDMIBA Summary This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in brain (RPKM 28.2), endometrium (RPKM 25.0) and 25 other tissues See more Orthologs mouse all
DYNC1I2P1, Official Symbol DYNC1I2P1provided by HGNC Official Full Name dynein cytoplasmic 1 intermediate chain 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45012 See related Ensembl:ENSG00000225137 AllianceGenome:HGNC:45012 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DYNC1LI1, Official Symbol DYNC1LI1provided by HGNC Official Full Name dynein cytoplasmic 1 light intermediate chain 1provided by HGNC Primary source HGNC:HGNC:18745 See related Ensembl:ENSG00000144635 MIM:615890; AllianceGenome:HGNC:18745 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 LIC1; DLC-A; DNCLI1 Summary The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 27.3), heart (RPKM 19.1) and 25 other tissues See more Orthologs mouse all
DYNC1LI2, Official Symbol DYNC1LI2provided by HGNC Official Full Name dynein cytoplasmic 1 light intermediate chain 2provided by HGNC Primary source HGNC:HGNC:2966 See related Ensembl:ENSG00000135720 MIM:611406; AllianceGenome:HGNC:2966 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 Also known as LIC2; DNCLI2 Summary Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 55.8), thyroid (RPKM 40.2) and 25 other tissues See more Orthologs mouse all
DYNC2H1, Official Symbol DYNC2H1provided by HGNC Official Full Name dynein cytoplasmic 2 heavy chain 1provided by HGNC Primary source HGNC:HGNC:2962 See related Ensembl:ENSG00000187240 MIM:603297; AllianceGenome:HGNC:2962 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 ATD3; DHC2; DHC1b; DNCH2; DYH1B; SRTD3; SRPS2B; hdhc11 Summary This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010] Expression Broad expression in testis (RPKM 4.1), thyroid (RPKM 3.0) and 23 other tissues See more Orthologs mouse all
DYNC2I1, Official Symbol DYNC2I1provided by HGNC Official Full Name dynein 2 intermediate chain 1provided by HGNC Primary source HGNC:HGNC:21862 See related Ensembl:ENSG00000126870 MIM:615462; AllianceGenome:HGNC:21862 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 DIC6; SRPS6; SRTD8; WDR60; FAP163; CFAP163 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014] Expression Broad expression in testis (RPKM 15.3), fat (RPKM 3.5) and 21 other tissues See more Orthologs mouse all
DYNC2I2, Official Symbol DYNC2I2provided by HGNC Official Full Name dynein 2 intermediate chain 2provided by HGNC Primary source HGNC:HGNC:28296 See related Ensembl:ENSG00000119333 MIM:613363; AllianceGenome:HGNC:28296 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 DIC5; WDR34; FAP133; SRTD11; CFAP133; bA216B9.3 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 24.0), kidney (RPKM 17.4) and 25 other tissues See more Orthologs mouse all