Gene: TRPS1
Alternate names for this Gene: GC79|LGCR
Gene Summary: This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III.
Gene is located in Chromosome: 8
Location in Chromosome : 8q23.3
Description of this Gene: transcriptional repressor GATA binding 1
Type of Gene: protein-coding
rs2737216 in
TRPS1 gene and
Alcohol consumption
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs800890 in
TRPS1 gene and
Alopecia
PMID 28196072 2017 Genetic prediction of male pattern baldness.
rs2721936 in
TRPS1 gene and
Basal Cell Cancer
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs2721936 in
TRPS1 gene and
Basal Cell Neoplasm
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs2721936 in
TRPS1 gene and
Basal cell carcinoma
PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
rs10505258 in
TRPS1 gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs11778934 in
TRPS1 gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
rs13277568 in
TRPS1 gene and
Breast Carcinoma
PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.
rs2049865 in
TRPS1 gene and
Diverticular Diseases
PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.
rs1554596397 in
TRPS1 gene and
Dysmorphic features
PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.
PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
rs1905376 in
TRPS1 gene and
Hematocrit procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs800911 in
TRPS1 gene and
Hemoglobin measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs2293889 in
TRPS1 gene and
High density lipoprotein measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs2737218 in
TRPS1 gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs2721953 in
TRPS1 gene and
Low density lipoprotein cholesterol measurement
PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs13271228 in
TRPS1 gene and
Monocyte count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs13271228 in
TRPS1 gene and
Monocyte count result
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1554596397 in
TRPS1 gene and
Multiple congenital anomalies
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.
rs62859560 in
TRPS1 gene and
Platelet Count measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1905376 in
TRPS1 gene and
Red Blood Cell Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2737265 in
TRPS1 gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs800586 in
TRPS1 gene and
Rheumatoid Arthritis
PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
rs2293889 in
TRPS1 gene and
Serum HDL cholesterol measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
rs2737229 in
TRPS1 gene and
Serum total cholesterol measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs199816436 in
TRPS1 gene and
Squamous cell carcinoma of skin
PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.
rs2737212 in
TRPS1 gene and
Suntan
PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.
rs1057518972 in
TRPS1 gene and
Trichorhinophalangeal Syndrome, Type III
PMID 24502542 2014 Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
PMID 28468609 2017 A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
PMID 18946009 2008 Tricho-rhino-phalangeal syndrome with supernumerary teeth.
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
PMID 11807863 2002 Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
PMID 27826100 2017 Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
PMID 23451857 2013 Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
PMID 28050602 2017 Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
PMID 22964620 2012 Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
rs1057518972 in
TRPS1 gene and
Trichorhinophalangeal dysplasia type I
PMID 28468609 2017 A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
PMID 24502542 2014 Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation.
PMID 18946009 2008 Tricho-rhino-phalangeal syndrome with supernumerary teeth.
PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
PMID 27826100 2017 Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.
PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
PMID 28170084 2017 Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PMID 22964620 2012 Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
PMID 23451857 2013 Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells.
PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
PMID 28050602 2017 Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
rs13270346 in
TRPS1 gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.