Aliases for CATIP-AS2 Gene

Data sources for CATIP-AS2 Gene:

RNA type for CATIP-AS2 Gene

lncRNA

Aliases for CATIP-AS2 Gene

External Ids for CATIP-AS2 Gene

Previous GeneCards Identifiers for CATIP-AS2 Gene

  • GC00U936141

Summaries for CATIP-AS2 Gene

GeneCards Summary for CATIP-AS2 Gene

CATIP-AS2 (CATIP Antisense RNA 2) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with CATIP-AS2 include Paroxysmal Nonkinesigenic Dyskinesia 1.

Additional gene information for CATIP-AS2 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 CATIP-AS2 Gene

Genomics for CATIP-AS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATIP-AS2 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
GH02J218356 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.9 861 1.9 CEBPA ZIC2 CTCF REST TRIM22 SIN3A THAP11 SMAD4 SAP130 RAD21 CATIP CATIP-AS2 piR-49575-002 piR-46391-005 ENSG00000261338 TMBIM1 PNKD AAMP SLC11A1
GH02J218331 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +24.8 24795 3.2 NCOR1 IKZF1 ZNF592 NFIC SMAD5 TBP MNT ARNT TAF9B NBN ENSG00000261338 PNKD SLC11A1 AAMP CYP27A1 GPBAR1 ARPC2 TMBIM1 CXCR2 SNODB1104
GH02J218359 Enhancer 0.8 ENCODE 0.7 -3.4 -3354 3.8 NCOR1 IKZF1 REST BHLHE40 TAL1 NFE2 JUND SPI1 POLR2A RAD51 CATIP ENSG00000261338 PNKD CATIP-AS2 CATIP-AS1 SLC11A1
GH02J218354 Enhancer 0.8 ENCODE 0.7 +2.8 2799 0.5 RAD51 THAP11 KDM6A SMAD4 SAP130 RARA CREM DRAP1 BCL6 SOX5 CATIP RPL19P5 piR-49575-002 piR-46391-005 PNKD TMBIM1 AAMP SLC11A1 CFAP65 CATIP-AS2
GH02J218329 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 0.3 +27.8 27796 2.2 BCLAF1 SP1 ZNF207 ZNF592 NR2C1 EBF1 CBFB SMARCA5 TAF1 BHLHE40 SNODB1104 ENSG00000261338 SLC11A1 PNKD AAMP CXCR2 ARPC2 USP37 CXCR1 CNOT9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATIP-AS2 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for CATIP-AS2 Gene

Latest Assembly
chr2:218,326,240-218,357,966
(GRCh38/hg38)
Size:
31,727 bases
Orientation:
Minus strand

Previous Assembly
chr2:219,190,964-219,222,689
(GRCh37/hg19 by Entrez Gene)
Size:
31,726 bases
Orientation:
Minus strand

chr2:219,191,612-219,222,689
(GRCh37/hg19 by Ensembl)
Size:
31,078 bases
Orientation:
Minus strand

Genomic View for CATIP-AS2 Gene

Genes around CATIP-AS2 on UCSC Golden Path with GeneCards custom track
CATIP-AS2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
CATIP-AS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATIP-AS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATIP-AS2 Gene

Proteins for CATIP-AS2 Gene

Post-translational modifications for CATIP-AS2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CATIP-AS2 Gene

Domains & Families for CATIP-AS2 Gene

Gene Families for CATIP-AS2 Gene

genes like me logo Genes that share domains with CATIP-AS2: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CATIP-AS2 Gene

Function for CATIP-AS2 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 CATIP-AS2 Gene

Localization for CATIP-AS2 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 CATIP-AS2 Gene

Pathways & Interactions for CATIP-AS2 Gene

PathCards logo

SuperPathways for CATIP-AS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CATIP-AS2 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for CATIP-AS2 Gene

Drugs & Compounds for CATIP-AS2 Gene

No Compound Related Data Available

Transcripts for CATIP-AS2 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for CATIP-AS2 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS0000023738_9606 lncRNA 535 3

Ensembl: ENST00000411433 (view in UCSC) ,

LNCipedia: CATIP-AS2:1,

NONCODE: NONHSAT076904.2,

URS00007E3352_9606 lncRNA 1187 2

RefSeq: NR_125777,

LNCipedia: CATIP-AS2:2,

URS0001BF2C64_9606 lncRNA 702 1

LncBook: HSALNT0047274,

URS0001BF51F8_9606 lncRNA 338 1

LncBook: HSALNT0047270,

CATIP-AS2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for CATIP-AS2 Gene

1 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for CATIP-AS2 Gene

No ASD Table

Relevant External Links for CATIP-AS2 Gene

GeneLoc Exon Structure for
CATIP-AS2

Expression for CATIP-AS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CATIP-AS2 Gene

genes like me logo Genes that share expression patterns with CATIP-AS2: view

No data available for 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 CATIP-AS2 Gene

Orthologs for CATIP-AS2 Gene

Evolution for CATIP-AS2 Gene

ENSEMBL:
Gene Tree for CATIP-AS2 (if available)
TreeFam:
Gene Tree for CATIP-AS2 (if available)
Alliance of Genome Resources:
Additional Orthologs for CATIP-AS2

No data available for Orthologs for CATIP-AS2 Gene

Paralogs for CATIP-AS2 Gene

No data available for Paralogs for CATIP-AS2 Gene

Variants for CATIP-AS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATIP-AS2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000439 Uncertain Significance: Paroxysmal non-kinesigenic dyskinesia 218,344,958(-) A/T
NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter)
NONSENSE
1004107 Uncertain Significance: Paroxysmal non-kinesigenic dyskinesia 218,340,047(-) T/C
NM_015488.5(PNKD):c.371T>C (p.Ile124Thr)
MISSENSE
1006163 Uncertain Significance: Paroxysmal non-kinesigenic dyskinesia 218,340,143(-) T/G
NM_015488.5(PNKD):c.465+2T>G
SPLICE_DONOR
1008167 Uncertain Significance: Paroxysmal non-kinesigenic dyskinesia 218,341,575(-) G/T
NM_015488.5(PNKD):c.566G>T (p.Arg189Leu)
MISSENSE
1009575 Uncertain Significance: Paroxysmal non-kinesigenic dyskinesia 218,339,848(-) G/C
NM_015488.5(PNKD):c.302G>C (p.Arg101Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CATIP-AS2 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for CATIP-AS2 Gene

Variant ID Type Subtype PubMed ID
esv2763102 CNV loss 21179565
esv3594336 CNV gain 21293372
nsv519829 CNV loss 19592680
nsv961563 CNV duplication 23825009

Additional Variant Information for CATIP-AS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATIP-AS2
Leiden Open Variation Database (LOVD)
CATIP-AS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CATIP-AS2 Gene

Disorders for CATIP-AS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CATIP-AS2 Gene - From: GCD

Disorder Aliases PubMed IDs
paroxysmal nonkinesigenic dyskinesia 1
  • pnkd1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CATIP-AS2

genes like me logo Genes that share disorders with CATIP-AS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CATIP-AS2 Gene

Publications for CATIP-AS2 Gene

  1. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. (PMID: 12107412) Wistow G … Peterson K (Molecular vision 2002) 3

No data available for Mastermind for CATIP-AS2 Gene

Products for CATIP-AS2 Gene

Sources for CATIP-AS2 Gene