Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TFCP2L1 Gene

Aliases for TFCP2L1 Gene

  • Transcription Factor CP2 Like 1 2 3 5
  • CP2-Related Transcriptional Repressor 1 3 4
  • Transcription Factor LBP-9 3 4
  • CRTR-1 3 4
  • CRTR1 3 4
  • LBP9 3 4
  • Transcription Factor CP2-Like Protein 1 3
  • Transcription Factor CP2-Like 1 2
  • LBP-9 3

External Ids for TFCP2L1 Gene

Previous GeneCards Identifiers for TFCP2L1 Gene

  • GC02M122073
  • GC02M121694
  • GC02M114296
  • GC02M121974

Summaries for TFCP2L1 Gene

GeneCards Summary for TFCP2L1 Gene

TFCP2L1 (Transcription Factor CP2 Like 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is TFCP2.

UniProtKB/Swiss-Prot for TFCP2L1 Gene

  • Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (PubMed:25215486, PubMed:26906118). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Regulates also the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 (PubMed:10644752).

Additional gene information for TFCP2L1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFCP2L1 Gene

Genomics for TFCP2L1 Gene

GeneHancer (GH) Regulatory Elements for TFCP2L1 Gene

Promoters and enhancers for TFCP2L1 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
GH02I121284 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 556.4 +0.4 374 1.6 CTCF MXI1 KLF17 ZIC2 BCL11B HIC1 ZNF335 CTBP1 GLIS2 POLR2A TFCP2L1 GC02P121255
GH02I121196 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +87.7 87658 2.9 FOSL1 FOS ZFX TFCP2L1 CLASP1 ENSG00000236145 PIR40716
GH02I121309 Enhancer 0.6 ENCODE 12.8 -24.8 -24765 0.6 SCRT1 JUN ZSCAN4 ZFP69B ZNF335 ZNF692 SCRT2 ZNF512 RPS17P7 TFCP2L1
GH02I121185 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 8.5 +99.4 99356 1.6 ZIC2 TFCP2L1 ENSG00000236145 PIR40716
GH02I121171 Enhancer 0.6 ENCODE dbSUPER 7.6 +111.4 111402 3.8 NFIC ZFP36 TFCP2L1 ENSG00000236145 LOC105373588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFCP2L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFCP2L1 gene promoter:

Genomic Locations for TFCP2L1 Gene

Genomic Locations for TFCP2L1 Gene
chr2:121,216,587-121,285,209
(GRCh38/hg38)
Size:
68,623 bases
Orientation:
Minus strand
chr2:121,974,163-122,042,783
(GRCh37/hg19)

Genomic View for TFCP2L1 Gene

Genes around TFCP2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFCP2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFCP2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFCP2L1 Gene

Proteins for TFCP2L1 Gene

  • Protein details for TFCP2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZI6-TF2L1_HUMAN
    Recommended name:
    Transcription factor CP2-like protein 1
    Protein Accession:
    Q9NZI6
    Secondary Accessions:
    • Q4ZG43

    Protein attributes for TFCP2L1 Gene

    Size:
    479 amino acids
    Molecular mass:
    54627 Da
    Quaternary structure:
    • Forms homohexamers via its SAM-like domain (PubMed:26906118). Interacts with MTA1; which is indispensable for TFCP2l1-mediated self-renewal-promoting effect and endoderm-inhibiting action (By similarity).

neXtProt entry for TFCP2L1 Gene

Post-translational modifications for TFCP2L1 Gene

No Post-translational modifications

Other Protein References for TFCP2L1 Gene

No data available for DME Specific Peptides for TFCP2L1 Gene

Domains & Families for TFCP2L1 Gene

Gene Families for TFCP2L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFCP2L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TFCP2L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZI6

UniProtKB/Swiss-Prot:

TF2L1_HUMAN :
  • The CP2-like domain is required for direct DNA-binding (PubMed:26906118). The CP2-like domain is essential to maintain the undifferentiated state of embryonic stem cells (By similarity).
  • Belongs to the grh/CP2 family. CP2 subfamily.
Domain:
  • The CP2-like domain is required for direct DNA-binding (PubMed:26906118). The CP2-like domain is essential to maintain the undifferentiated state of embryonic stem cells (By similarity).
  • The SAM-like domain is required for homohexamerization (PubMed:26906118).
Family:
  • Belongs to the grh/CP2 family. CP2 subfamily.
genes like me logo Genes that share domains with TFCP2L1: view

Function for TFCP2L1 Gene

Molecular function for TFCP2L1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (PubMed:25215486, PubMed:26906118). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Regulates also the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 (PubMed:10644752).

Phenotypes From GWAS Catalog for TFCP2L1 Gene

Gene Ontology (GO) - Molecular Function for TFCP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,TAS --
GO:0003714 transcription corepressor activity TAS 10644752
GO:0043565 sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with TFCP2L1: view
genes like me logo Genes that share phenotypes with TFCP2L1: view

Animal Models for TFCP2L1 Gene

MGI Knock Outs for TFCP2L1:
Targeted motifs for TFCP2L1 Gene
HOMER Transcription Factor Regulatory Elements motif TFCP2L1
  • Consensus sequence: NAAACCGGTTCAAACCGGTT Submotif: canonical Cell Type: mES GEO ID: GSE11431

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for TFCP2L1 Gene

Localization for TFCP2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFCP2L1 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 TFCP2L1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytoskeleton 3
extracellular 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TFCP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TFCP2L1: view

Pathways & Interactions for TFCP2L1 Gene

SuperPathways for TFCP2L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TFCP2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000902 cell morphogenesis IEA --
GO:0002070 epithelial cell maturation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TFCP2L1: view

No data available for Pathways by source and SIGNOR curated interactions for TFCP2L1 Gene

Drugs & Compounds for TFCP2L1 Gene

No Compound Related Data Available

Transcripts for TFCP2L1 Gene

Unigene Clusters for TFCP2L1 Gene

Transcription factor CP2-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TFCP2L1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - -
SP2:
SP3: -
SP4:

Relevant External Links for TFCP2L1 Gene

GeneLoc Exon Structure for
TFCP2L1
ECgene alternative splicing isoforms for
TFCP2L1

Expression for TFCP2L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFCP2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFCP2L1 Gene

This gene is overexpressed in Minor Salivary Gland (x10.3), Kidney - Cortex (x8.2), Thyroid (x5.4), and Skin - Sun Exposed (Lower leg) (x5.1).

Protein differential expression in normal tissues from HIPED for TFCP2L1 Gene

This gene is overexpressed in Placenta (39.5) and Brain (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFCP2L1 Gene



Protein tissue co-expression partners for TFCP2L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFCP2L1 Gene:

TFCP2L1

SOURCE GeneReport for Unigene cluster for TFCP2L1 Gene:

Hs.156471

mRNA Expression by UniProt/SwissProt for TFCP2L1 Gene:

Q9NZI6-TF2L1_HUMAN
Tissue specificity: Highly expressed in placental JEG-3 cells and very low levels of expression in non-steroidogenic cells. No expression was seen in adrenal NCI-H295A cells or in adrenal tissue.

Evidence on tissue expression from TISSUES for TFCP2L1 Gene

  • Kidney(2.5)
genes like me logo Genes that share expression patterns with TFCP2L1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TFCP2L1 Gene

Orthologs for TFCP2L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TFCP2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFCP2L1 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia TFCP2L1 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFCP2L1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFCP2L1 33 34
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia TFCP2L1 33 34
  • 89.84 (n)
mouse
(Mus musculus)
Mammalia Tfcp2l1 33 16 34
  • 88.45 (n)
rat
(Rattus norvegicus)
Mammalia Tfcp2l1 33
  • 87.47 (n)
chicken
(Gallus gallus)
Aves TFCP2L1 33 34
  • 79.23 (n)
lizard
(Anolis carolinensis)
Reptilia TFCP2L1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9246 33
African clawed frog
(Xenopus laevis)
Amphibia lbp-9-prov 33
zebrafish
(Danio rerio)
Actinopterygii tfcp2l1 34
  • 67 (a)
OneToOne
Species where no ortholog for TFCP2L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for TFCP2L1 Gene

ENSEMBL:
Gene Tree for TFCP2L1 (if available)
TreeFam:
Gene Tree for TFCP2L1 (if available)

Paralogs for TFCP2L1 Gene

Paralogs for TFCP2L1 Gene

(3) SIMAP similar genes for TFCP2L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TFCP2L1: view

Variants for TFCP2L1 Gene

Sequence variations from dbSNP and Humsavar for TFCP2L1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000102098 -- 121,240,832(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000149142 -- 121,230,335(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000262849 -- 121,235,927(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000297179 -- 121,271,118(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000329722 -- 121,277,958(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TFCP2L1 Gene

Variant ID Type Subtype PubMed ID
esv2658840 CNV deletion 23128226
nsv1138833 CNV deletion 24896259
nsv525727 CNV gain 19592680
nsv582798 CNV loss 21841781
nsv954806 CNV deletion 24416366

Variation tolerance for TFCP2L1 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFCP2L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFCP2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFCP2L1 Gene

Disorders for TFCP2L1 Gene

Additional Disease Information for TFCP2L1

No disorders were found for TFCP2L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TFCP2L1 Gene

Publications for TFCP2L1 Gene

  1. Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. (PMID: 10644752) Huang N … Miller WL (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. LBP proteins modulate SF1-independent expression of P450scc in human placental JEG-3 cells. (PMID: 15471945) Huang N … Miller WL (Molecular endocrinology (Baltimore, Md.) 2005) 3 22 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. CRTR-1, a developmentally regulated transcriptional repressor related to the CP2 family of transcription factors. (PMID: 11073954) Rodda S … Rathjen P (The Journal of biological chemistry 2001) 2 3 58

Products for TFCP2L1 Gene

Sources for TFCP2L1 Gene

Content
Loading form....