This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, J... See more...

Aliases for SPECC1L-ADORA2A Gene

Subcategory (RNA class) for SPECC1L-ADORA2A Gene

lncRNA

Number of RNA Genes sources:

1 / 17

Aliases for SPECC1L-ADORA2A Gene

  • SPECC1L-ADORA2A Readthrough (NMD Candidate) 2 3 5 13
  • SPECC1L-ADORA2A 5
  • Lnc-ADORA2A-1 165

External Ids for SPECC1L-ADORA2A Gene

Previous GeneCards Identifiers for SPECC1L-ADORA2A Gene

  • GC22U900941
  • GC22P024740
  • GC22P024271
  • GC22P024296
  • GC22P024421
  • GC22P024429
  • GC22P024416
  • GC22P024466
  • GC22P024313
  • GC22P024328
  • GC22P024340
  • GC22P024364
  • GC22P024386
  • GC22P024391
  • GC22P024401
  • GC22P024412

Summaries for SPECC1L-ADORA2A Gene

Entrez Gene Summary for SPECC1L-ADORA2A Gene

  • This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]

GeneCards Summary for SPECC1L-ADORA2A Gene

SPECC1L-ADORA2A (SPECC1L-ADORA2A Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SPECC1L-ADORA2A include Hypertelorism, Teebi Type and Opitz Gbbb Syndrome, Type Ii. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and enzyme binding. An important paralog of this gene is SPECC1L.

Additional gene information for SPECC1L-ADORA2A 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 SPECC1L-ADORA2A Gene

Genomics for SPECC1L-ADORA2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPECC1L-ADORA2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPECC1L-ADORA2A on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for SPECC1L-ADORA2A Gene

Genomic Locations for SPECC1L-ADORA2A Gene
chr22:24,270,817-24,442,360
(GRCh38/hg38)
Size:
171,544 bases
Orientation:
Plus strand
chr22:24,666,866-24,838,324
(GRCh37/hg19)
Size:
171,459 bases
Orientation:
Plus strand

Genomic View for SPECC1L-ADORA2A Gene

Genes around SPECC1L-ADORA2A on UCSC Golden Path with GeneCards custom track
SPECC1L-ADORA2A in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
SPECC1L-ADORA2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPECC1L-ADORA2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPECC1L-ADORA2A Gene

Proteins for SPECC1L-ADORA2A Gene

  • Protein details for SPECC1L-ADORA2A Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F8WAN1-F8WAN1_HUMAN
    Recommended name:
    SPECC1L-ADORA2A readthrough (NMD candidate)
    Protein Accession:
    F8WAN1

    Protein attributes for SPECC1L-ADORA2A Gene

    Size:
    911 amino acids
    Molecular mass:
    101514 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPECC1L-ADORA2A Gene

Post-translational modifications for SPECC1L-ADORA2A Gene

No Post-translational modifications

Other Protein References for SPECC1L-ADORA2A Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for SPECC1L-ADORA2A Gene

Domains & Families for SPECC1L-ADORA2A Gene

Protein Domains for SPECC1L-ADORA2A Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with SPECC1L-ADORA2A: view

No data available for Gene Families , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPECC1L-ADORA2A Gene

Function for SPECC1L-ADORA2A Gene

Phenotypes From GWAS Catalog for SPECC1L-ADORA2A 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 SPECC1L-ADORA2A Gene

Localization for SPECC1L-ADORA2A Gene

Gene Ontology (GO) - Cellular Components for SPECC1L-ADORA2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005815 microtubule organizing center IBA --
GO:0031941 filamentous actin IBA --
genes like me logo Genes that share ontologies with SPECC1L-ADORA2A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for SPECC1L-ADORA2A Gene

Pathways & Interactions for SPECC1L-ADORA2A Gene

PathCards logo

SuperPathways for SPECC1L-ADORA2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPECC1L-ADORA2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IBA --
genes like me logo Genes that share ontologies with SPECC1L-ADORA2A: view

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for SPECC1L-ADORA2A Gene

Drugs & Compounds for SPECC1L-ADORA2A Gene

No Compound Related Data Available

Transcripts for SPECC1L-ADORA2A Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for SPECC1L-ADORA2A Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075D353_9606 lncRNA 6289 1

RefSeq: NR_103546,

URS00008B2512_9606 lncRNA 578 1

LNCipedia: lnc-ADORA2A-1:5,

URS00008B6214_9606 lncRNA 549 1

LNCipedia: lnc-ADORA2A-1:4,

SPECC1L-ADORA2A in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for SPECC1L-ADORA2A Gene

15 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for SPECC1L-ADORA2A Gene

No ASD Table

Relevant External Links for SPECC1L-ADORA2A Gene

GeneLoc Exon Structure for
SPECC1L-ADORA2A

Expression for SPECC1L-ADORA2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPECC1L-ADORA2A Gene

genes like me logo Genes that share expression patterns with SPECC1L-ADORA2A: 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 SPECC1L-ADORA2A Gene

Orthologs for SPECC1L-ADORA2A Gene

This gene was present in the common ancestor of animals.

Orthologs for SPECC1L-ADORA2A Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia SPECC1L 31
  • 78 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Specc1l 31
  • 75 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 73 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 51 (a)
OneToMany
Chicken
(Gallus gallus)
Aves SPECC1L 31
  • 70 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 47 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii specc1la 31
  • 54 (a)
ManyToMany
specc1lb 31
  • 50 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG13366 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3677 31
  • 22 (a)
OneToMany
Species where no ortholog for SPECC1L-ADORA2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SPECC1L-ADORA2A Gene

ENSEMBL:
Gene Tree for SPECC1L-ADORA2A (if available)
TreeFam:
Gene Tree for SPECC1L-ADORA2A (if available)

Paralogs for SPECC1L-ADORA2A Gene

Paralogs for SPECC1L-ADORA2A Gene

(7) SIMAP similar genes for SPECC1L-ADORA2A Gene using alignment to 1 proteins:

  • F8WAN1_HUMAN
genes like me logo Genes that share paralogs with SPECC1L-ADORA2A: view

Variants for SPECC1L-ADORA2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPECC1L-ADORA2A Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
599382 Likely Pathogenic: Hypertelorism, Teebi type 24,322,229(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
691567 Uncertain Significance: Craniosynostosis 24,322,895(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
691915 Uncertain Significance: Craniosynostosis 24,322,599(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
708016 Benign: not provided 24,322,709(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
708645 Benign: not provided 24,328,848(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for SPECC1L-ADORA2A Gene

Structural Variations from Database of Genomic Variants (DGV) for SPECC1L-ADORA2A Gene

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv24290 CNV gain 19812545
esv2724041 CNV deletion 23290073
esv2724068 CNV deletion 23290073
esv3575443 CNV gain 25503493
esv3893463 CNV gain 25118596
esv996036 CNV deletion 20482838
nsv1055830 CNV gain 25217958
nsv1057819 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv526567 CNV gain 19592680
nsv588744 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv834158 CNV gain 17160897
nsv834160 CNV gain 17160897
nsv953060 CNV duplication 24416366
nsv953061 CNV deletion 24416366
nsv964609 CNV duplication 23825009
nsv964610 CNV duplication 23825009
nsv966093 CNV duplication 23825009
nsv979658 CNV duplication 23825009
nsv9883 CNV gain+loss 18304495
nsv9884 CNV gain+loss 18304495

Additional Variant Information for SPECC1L-ADORA2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPECC1L-ADORA2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SPECC1L-ADORA2A Gene

Disorders for SPECC1L-ADORA2A Gene

MalaCards: The human disease database

(5) MalaCards diseases for SPECC1L-ADORA2A Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypertelorism, teebi type
  • tbhs
opitz gbbb syndrome, type ii
  • gbbb2
oculomaxillofacial dysostosis
  • oculomaxillofacial dysplasia with oblique facial clefts
opitz-gbbb syndrome
  • hypertelorism with esophageal abnormality and hypospadias
hypertelorism
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SPECC1L-ADORA2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPECC1L-ADORA2A Gene

Publications for SPECC1L-ADORA2A Gene

  1. Evidence for transcript networks composed of chimeric RNAs in human cells. (PMID: 22238572) Djebali S … Gingeras TR (PloS one 2012) 3
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 13

Products for SPECC1L-ADORA2A Gene

Sources for SPECC1L-ADORA2A Gene