This locus represents naturally occurring readthrough transcription between the neighboring KCNK4 (potassium channel subfamily K member 4) and the downstream TEX40 (testis expressed 40) chromosome 11. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Nov 2015] See more...

Aliases for KCNK4-TEX40 Gene

Data sources for KCNK4-TEX40 Gene:

Subcategory (RNA class) for KCNK4-TEX40 Gene

lncRNA

Aliases for KCNK4-TEX40 Gene

External Ids for KCNK4-TEX40 Gene

Previous GeneCards Identifiers for KCNK4-TEX40 Gene

  • GC11U903045

Summaries for KCNK4-TEX40 Gene

Entrez Gene Summary for KCNK4-TEX40 Gene

  • This locus represents naturally occurring readthrough transcription between the neighboring KCNK4 (potassium channel subfamily K member 4) and the downstream TEX40 (testis expressed 40) chromosome 11. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Nov 2015]

GeneCards Summary for KCNK4-TEX40 Gene

KCNK4-TEX40 (KCNK4-TEX40 Readthrough) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with KCNK4-TEX40 include Gingival Overgrowth and Gingival Hypertrophy.

Additional gene information for KCNK4-TEX40 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNK4-TEX40 Gene

Genomics for KCNK4-TEX40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNK4-TEX40 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
GH11J064291 Promoter 1 EPDnew Ensembl 250.7 +0.5 497 1.2 BCL6 BHLHE40 CTCF GATA2 EZH2 POLR2A DPF2 ZFHX2 ZBTB26 KCNK4 KCNK4-TEX40 CATSPERZ TRMT112 ENSG00000207024
GH11J064290 Promoter 0.6 EPDnew 250.7 -0.4 -421 0.1 SP1 GATA2 EZH2 KCNK4 KCNK4-TEX40 BAD NONHSAG008605.2
GH11J064205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -84.1 -84109 4.4 TBP SP1 NR2C1 MNT IKZF1 SMAD5 MBD2 POLR2A BHLHE40 ARNT FERMT3 TRPT1 ZFPL1 PLCB3 ENSG00000257086 GPR137 BAD KCNK4 KCNK4-TEX40 ENSG00000207024
GH11J064347 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 11.5 +56.5 56497 2.4 CEBPA CEBPB MAX EP300 ETV4 GABPB1 JUND PRDM10 MBD1 FOXK2 CCDC88B ENSG00000236935 MIR1237 TRMT112 PRDX5 ESRRA CATSPERZ ENSG00000207024 KCNK4 KCNK4-TEX40
GH11J064320 Enhancer 0.8 ENCODE dbSUPER 12.2 +31.4 31416 5.3 ZIC2 ZKSCAN1 TARDBP POLR2A HDAC2 EGR1 GLIS1 NR2F6 ESRRA EGR2 PLCB3 ENSG00000236935 CATSPERZ ENSG00000207024 KCNK4 KCNK4-TEX40 BAD GPR137 ENSG00000257086 TRMT112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNK4-TEX40 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for KCNK4-TEX40 Gene

Latest Assembly
chr11:64,291,704-64,304,769
(GRCh38/hg38)
Size:
13,066 bases
Orientation:
Plus strand

Previous Assembly
chr11:64,059,194-64,072,241
(GRCh37/hg19 by Entrez Gene)
Size:
13,048 bases
Orientation:
Plus strand

chr11:64,059,194-64,072,241
(GRCh37/hg19 by Ensembl)
Size:
13,048 bases
Orientation:
Plus strand

Genomic View for KCNK4-TEX40 Gene

Genes around KCNK4-TEX40 on UCSC Golden Path with GeneCards custom track
KCNK4-TEX40 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
KCNK4-TEX40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNK4-TEX40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNK4-TEX40 Gene

Proteins for KCNK4-TEX40 Gene

Post-translational modifications for KCNK4-TEX40 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KCNK4-TEX40 Gene

Domains & Families for KCNK4-TEX40 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KCNK4-TEX40 Gene

Function for KCNK4-TEX40 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCNK4-TEX40 Gene

Localization for KCNK4-TEX40 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KCNK4-TEX40 Gene

Pathways & Interactions for KCNK4-TEX40 Gene

PathCards logo

SuperPathways for KCNK4-TEX40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KCNK4-TEX40 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for KCNK4-TEX40 Gene

Drugs & Compounds for KCNK4-TEX40 Gene

No Compound Related Data Available

Transcripts for KCNK4-TEX40 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for KCNK4-TEX40 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS0000A76A23_9606 lncRNA 2733 1

RefSeq: NR_133662,

URS0000EEF3BC_9606 lncRNA 2733 1

Ensembl: ENST00000539086 (view in UCSC) ,

URS0000EAD64F_9606 lncRNA 545 1

LncBook: HSALNT0176580,

KCNK4-TEX40 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for KCNK4-TEX40 Gene

No ASD Table

Relevant External Links for KCNK4-TEX40 Gene

GeneLoc Exon Structure for
KCNK4-TEX40

No data available for mRNA/cDNA for KCNK4-TEX40 Gene

Expression for KCNK4-TEX40 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNK4-TEX40 Gene

Orthologs for KCNK4-TEX40 Gene

Evolution for KCNK4-TEX40 Gene

ENSEMBL:
Gene Tree for KCNK4-TEX40 (if available)
TreeFam:
Gene Tree for KCNK4-TEX40 (if available)

No data available for Orthologs for KCNK4-TEX40 Gene

Paralogs for KCNK4-TEX40 Gene

No data available for Paralogs for KCNK4-TEX40 Gene

Variants for KCNK4-TEX40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNK4-TEX40 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
930708 Uncertain Significance: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,131(+) C/T
NM_033310.3(KCNK4):c.683C>T (p.Ser228Phe)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
930709 Conflicting Interpretations: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,146(+) C/T
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1189909394 Pathogenic: Gingival overgrowth; Intellectual disability; Seizures; Abnormal facial shape; Generalized hypertrichosis; Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,298,178(+) G/C
NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1565369746 Pathogenic: Gingival overgrowth; Intellectual disability; Seizures; Abnormal facial shape; Generalized hypertrichosis; Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 64,297,507(+) C/A
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1591231801 Likely Benign: not provided 64,299,405(+) C/G
NM_033310.3(KCNK4):c.861C>G (p.Thr287=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNK4-TEX40 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for KCNK4-TEX40 Gene

Disorders for KCNK4-TEX40 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KCNK4-TEX40 Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KCNK4-TEX40: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for KCNK4-TEX40 Gene

Publications for KCNK4-TEX40 Gene

  1. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. (PMID: 30290154) Bauer CK … Tartaglia M (American journal of human genetics 2018) 74
  2. Cloning of two transcripts, HKT4.1a and HKT4.1b, from the human two-pore K+ channel gene KCNK4. Chromosomal localization, tissue distribution and functional expression. (PMID: 12191490) Ozaita A … Vega-Saenz de Miera E (Brain research. Molecular brain research 2002) 3

No data available for Mastermind for KCNK4-TEX40 Gene

Products for KCNK4-TEX40 Gene

Sources for KCNK4-TEX40 Gene