Gene Gene information from NCBI Gene database.
Entrez ID 8609
Gene name KLF transcription factor 7
Gene symbol KLF7
Synonyms (NCBI Gene)
UKLF
Chromosome 2
Chromosome location 2q33.3
Summary The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding
miRNA miRNA information provided by mirtarbase database.
336
miRTarBase ID miRNA Experiments Reference
MIRT018392 hsa-miR-335-5p Microarray 18185580
MIRT522836 hsa-miR-410-3p HITS-CLIP 21572407
MIRT522834 hsa-miR-3163 HITS-CLIP 21572407
MIRT522833 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT522832 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 16339272
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9774444
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604865 6350 ENSG00000118263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75840
Protein name Krueppel-like factor 7 (Ubiquitous krueppel-like factor)
Protein function Transcriptional factor (PubMed:16339272, PubMed:9774444). Plays a critical role in neuronal morphogenesis and survival of sensory neurons (By similarity). Represses the corneal epithelium differentiation (PubMed:28916725). Also acts as a metabol
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 219 243 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 249 273 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 279 301 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16339272, ECO:0000269|PubMed:9774444}.
Sequence
MDVLASYSIFQELQLVHDTGYFSALPSLEETWQQTCLELERYLQTEPRRISETFGEDLDC
FLHASPPPCIEESFRRLDPLLLPVEAAICEKSSAVDILLSRDKLLSETCLSLQPASSSLD
SYTAVNQAQLNAVTSLTPPSSPELSRHLVKTSQTLSAVDGTVTLKLVAKKAALSSVKVGG
VATAAAAVTAAGAVKSGQSDSDQGGLGAEACPENKKRVHRCQFNGCRKVYTKSSHLKAHQ
RTH
TGEKPYKCSWEGCEWRFARSDELTRHYRKHTGAKPFKCNHCDRCFSRSDHLALHMKR
H
I
Sequence length 302
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
intellectual deficiency Likely pathogenic; Pathogenic rs1057518995 RCV000415332
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KLF7-related disorder Likely pathogenic; Pathogenic rs1057518995 RCV001090142
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs1057518995 RCV002272225
★★★★☆
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
Anxiety Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Delayed gross motor development Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
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
Autistic Disorder Autism BEFREE 29251763
★☆☆☆☆
Found in Text Mining only
Autoimmune Pancreatitis Autoimmune pancreatitis Pubtator 25985088 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36192788 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37554278 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 32536035 Stimulate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular abnormalities Pubtator 35205232 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 32633394 Associate
★☆☆☆☆
Found in Text Mining only
Cone-Rod Dystrophy 2 Cone-rod dystrophy BEFREE 28884027
★☆☆☆☆
Found in Text Mining only
Corneal Diseases Corneal disease Pubtator 28916725 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 23468932, 37268267 Associate
★☆☆☆☆
Found in Text Mining only