Aliases for KLC2-AS1 Gene

Data sources for KLC2-AS1 Gene:

RNA type for KLC2-AS1 Gene

lncRNA

Aliases for KLC2-AS1 Gene

External Ids for KLC2-AS1 Gene

Summaries for KLC2-AS1 Gene

GeneCards Summary for KLC2-AS1 Gene

KLC2-AS1 (KLC2 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with KLC2-AS1 include Spastic Paraplegia, Optic Atrophy, And Neuropathy.

Additional gene information for KLC2-AS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLC2-AS1 Gene

Genomics for KLC2-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLC2-AS1 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
GH11J066265 Enhancer 0.5 ENCODE 250.7 +0.5 481 0.2 KLF7 CTCF TRIM25 SIN3A KLF1 ZNF143 TRIM22 KLF8 ENSG00000254855 KLC2-AS1 ENSG00000254461 RAB1B KLC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLC2-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for KLC2-AS1 Gene

Latest Assembly
chr11:66,259,547-66,265,666
(GRCh38/hg38)
Size:
6,120 bases
Orientation:
Minus strand

Genomic View for KLC2-AS1 Gene

Genes around KLC2-AS1 on UCSC Golden Path with GeneCards custom track
KLC2-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
KLC2-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLC2-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLC2-AS1 Gene

Proteins for KLC2-AS1 Gene

Post-translational modifications for KLC2-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KLC2-AS1 Gene

Domains & Families for KLC2-AS1 Gene

Gene Families for KLC2-AS1 Gene

genes like me logo Genes that share domains with KLC2-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLC2-AS1 Gene

Function for KLC2-AS1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KLC2-AS1 Gene

Localization for KLC2-AS1 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 KLC2-AS1 Gene

Pathways & Interactions for KLC2-AS1 Gene

PathCards logo

SuperPathways for KLC2-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KLC2-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for KLC2-AS1 Gene

Drugs & Compounds for KLC2-AS1 Gene

No Compound Related Data Available

Transcripts for KLC2-AS1 Gene

KLC2-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for KLC2-AS1 Gene

No ASD Table

Relevant External Links for KLC2-AS1 Gene

GeneLoc Exon Structure for
KLC2-AS1

No data available for mRNA/cDNA for KLC2-AS1 Gene

Expression for KLC2-AS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLC2-AS1

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 KLC2-AS1 Gene

Orthologs for KLC2-AS1 Gene

No data available for Orthologs and Evolution for KLC2-AS1 Gene

Paralogs for KLC2-AS1 Gene

No data available for Paralogs for KLC2-AS1 Gene

Variants for KLC2-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLC2-AS1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1034013 Pathogenic: Spastic paraplegia, optic atrophy, and neuropathy 66,261,972(-) C/CGTGA
NM_001318734.2(KLC2):c.459+2_459+5dup
SPLICE_DONOR_VARIANT,INTRON
rs143495132 Benign: not provided 66,265,178(-) G/A
NM_001318734.2(KLC2):c.1277G>A (p.Arg426Gln)
MISSENSE
rs147513948 Benign: not provided 66,265,209(-) C/T
NM_001318734.2(KLC2):c.1308C>T (p.Ser436=)
SYNONYMOUS
rs1565174024 Uncertain Significance: not provided 66,264,403(-) T/C
NM_001318734.2(KLC2):c.1175T>C (p.Ile392Thr)
MISSENSE
rs199947030 Benign: not provided 66,262,117(-) T/C
NM_001318734.2(KLC2):c.460-6T>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KLC2-AS1 Gene

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

Additional Variant Information for KLC2-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLC2-AS1
Leiden Open Variation Database (LOVD)
KLC2-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for KLC2-AS1 Gene

Disorders for KLC2-AS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLC2-AS1 Gene - From: CVR and GCD

Disorder Aliases PubMed IDs
spastic paraplegia, optic atrophy, and neuropathy
  • spoan
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with KLC2-AS1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for KLC2-AS1 Gene

Publications for KLC2-AS1 Gene

No publications were found for KLC2-AS1 Gene.

No data available for Mastermind for KLC2-AS1 Gene

Products for KLC2-AS1 Gene

Sources for KLC2-AS1 Gene