Gene Gene information from NCBI Gene database.
Entrez ID 7227
Gene name Transcriptional repressor GATA binding 1
Gene symbol TRPS1
Synonyms (NCBI Gene)
GC79LGCR
Chromosome 8
Chromosome location 8q23.3
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 transcr
SNPs SNP information provided by dbSNP.
67
SNP ID Visualize variation Clinical significance Consequence
rs28939069 G>A Pathogenic Coding sequence variant, missense variant
rs28939070 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121908430 G>T Pathogenic Stop gained, coding sequence variant
rs121908431 G>A,C Pathogenic Missense variant, stop gained, coding sequence variant
rs121908432 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1502
miRTarBase ID miRNA Experiments Reference
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000092 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000058 hsa-miR-372-3p Luciferase reporter assayMicroarray 19229866
MIRT006841 hsa-miR-221-3p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21673316
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 15613454
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12885770, 14680804, 21673316
GO:0000785 Component Chromatin IDA 21673316
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 14680804
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 14680804
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604386 12340 ENSG00000104447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHF7
Protein name Zinc finger transcription factor Trps1 (Tricho-rhino-phalangeal syndrome type I protein) (Zinc finger protein GC79)
Protein function Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple f
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00320 GATA 896 930 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.
Sequence
MVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEH
SLHVQDPSSSSKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGG
VCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPV
SVASKNPQVPSDGGVRLNKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLI
KHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPV
LLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPN
KIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPL
DSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSV
INQNDLAKSSEGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDV
IVVGPLLRHYQQLHNIHKCTIKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLL
HLSPGAAGSSRVKHQCHQCSFTTPDVDVLLFHYESVHESQASDVKQEANHLQGSDGQQSV
KESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFTAADTQSLLEHFNTVHCQEQD
ITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKLEEKDGLKEKV
WTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLAR
PIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLRRRRGSGVFCANCL
TTKTSLWRKNANGGYVCNACGLYQKLHSTP
RPLNIIKQNNGEQIIRRRTRKRLNPEALQA
EQLNKQQRGSNEEQVNGSPLERRSEDHLTESHQREIPLPSLSKYEAQGSLTKSHSAQQPV
LVSQTLDIHKRMQPLHIQIKSPQESTGDPGNSSSVSEGKGSSERGSPIEKYMRPAKHPNY
SPPGSPIEKYQYPLFGLPFVHNDFQSEADWLRFWSKYKLSVPGNPHYLSHVPGLPNPCQN
YVPYPTFNLPPHFSAVGSDNDIPLDLAIKHSRPGPTANGASKEKTKAPPNVKNEGPLNVV
KTEKVDRSTQDELSTKCVHCGIVFLDEVMYALHMSCHGDSGPFQCSICQHLCTDKYDFTT
HIQRGLHRNNAQVEKNGKPKE
Sequence length 1281
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
79
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alopecia areata Likely pathogenic; Pathogenic rs1057518972 RCV000415011
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly Likely pathogenic; Pathogenic rs1057518972 RCV000415011
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract Pathogenic rs121908436 RCV001849257
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Langer-Giedion syndrome Pathogenic rs886040971, rs1554617582 RCV000856743
RCV000856768
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia BEFREE 23451857
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 28256045 Associate
★☆☆☆☆
Found in Text Mining only
Atresia of nasolacrimal duct Atresia Of Nasolacrimal Duct CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis Avascular Necrosis Of The Capital Femoral Epiphysis HPO_DG
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations