Gene Gene information from NCBI Gene database.
Entrez ID 29842
Gene name Transcription factor CP2 like 1
Gene symbol TFCP2L1
Synonyms (NCBI Gene)
CRTR1LBP-9LBP9
Chromosome 2
Chromosome location 2q14.2
miRNA miRNA information provided by mirtarbase database.
577
miRTarBase ID miRNA Experiments Reference
MIRT024786 hsa-miR-215-5p Microarray 19074876
MIRT026438 hsa-miR-192-5p Microarray 19074876
MIRT724435 hsa-miR-4274 HITS-CLIP 19536157
MIRT724434 hsa-miR-4717-5p HITS-CLIP 19536157
MIRT531806 hsa-miR-4649-3p HITS-CLIP 19536157
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 IEA
GO:0000785 Component Chromatin ISA
GO:0000902 Process Cell morphogenesis IEA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609785 17925 ENSG00000115112
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZI6
Protein name Transcription factor CP2-like protein 1 (CP2-related transcriptional repressor 1) (CRTR-1) (Transcription factor LBP-9)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04516 CP2 25 240 CP2 transcription factor Family
PF18016 SAM_3 302 363 SAM domain (Sterile alpha motif) Domain
Tissue specificity 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. {ECO:0000269|PubMed:10644752}.
Sequence
MLFWHTQPEHYNQHNSGSYLRDVLALPIFKQEEPQLSPENEARLPPLQYVLCAATSPAVK
LHEETLTYLNQGQSYEIRLLENRKLGDFQDLNTKYVKSIIRVVFHDRRLQYTEHQQLEGW
RWSRPGDRILDIDIPLSVGILDPRASPTQLNAVEFLWDPAKRASAFIQVHCISTEFTPRK
HGGEKGVPFRVQIDTFKQNENGEYTEHLHSASCQIKVFKPKGADRKQKTDREKMEKRTAQ

EKEKYQPSYETTILTECSPWPDVAYQVNSAPSPSYNGSPNSFGLGEGNASPTHPVEALPV
GSDHLLPSASIQDAQQWLHRNRFSQFCRLFASFSGADLLKMSRDDLVQICGPADGIRLFN
AIK
GRNVRPKMTIYVCQELEQNRVPLQQKRDGSGDSNLSVYHAIFLEELTTLELIEKIAN
LYSISPQHIHRVYRQGPTGIHVVVSNEMVQNFQDESCFVLSTIKAESNDGYHIILKCGL
Sequence length 479
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Chronic kidney disease Likely pathogenic rs2104690970 RCV001849817
★★★★☆
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
BEHCET'S SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA 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
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 16184762
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 35680849 Associate
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome GWASCAT_DG 23001997
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome GWASDB_DG 23001997
★☆☆☆☆
Found in Text Mining only
Carcinoma Medullary Medullary carcinoma Pubtator 37236926 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 20502531, 36681680 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 24621579, 29410248
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of thyroid Thyroid cancer BEFREE 29410248
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of urinary bladder Urinary bladder cancer BEFREE 31709755
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26228058, 29410248
★☆☆☆☆
Found in Text Mining only