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Aliases for C2orf88 Gene

Aliases for C2orf88 Gene

  • Chromosome 2 Open Reading Frame 88 2 3
  • Small Membrane AKAP 2 3 4
  • SmAKAP 3 4 6
  • Small Membrane A-Kinase Anchor Protein 3
  • Small A-Kinase Anchoring Protein 3

External Ids for C2orf88 Gene

Summaries for C2orf88 Gene

GeneCards Summary for C2orf88 Gene

C2orf88 (Chromosome 2 Open Reading Frame 88) is a Protein Coding gene. GO annotations related to this gene include protein kinase A regulatory subunit binding.

UniProtKB/Swiss-Prot for C2orf88 Gene

  • Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2orf88 Gene

Genomics for C2orf88 Gene

Genomic Location for C2orf88 Gene

Start:
189,879,609 bp from pter
End:
190,203,484 bp from pter
Size:
323,876 bases
Orientation:
Plus strand

Genomic View for C2orf88 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C2orf88 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf88 Gene

Regulatory Elements for C2orf88 Gene

Proteins for C2orf88 Gene

  • Protein details for C2orf88 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSF0-SMAKA_HUMAN
    Recommended name:
    Small membrane A-kinase anchor protein
    Protein Accession:
    Q9BSF0
    Secondary Accessions:
    • D3DPI3
    • P0C876
    • Q53TC7

    Protein attributes for C2orf88 Gene

    Size:
    95 amino acids
    Molecular mass:
    10970 Da
    Quaternary structure:
    • Interacts with PRKAR1A and PRKAR1B.

neXtProt entry for C2orf88 Gene

Proteomics data for C2orf88 Gene at MOPED

Post-translational modifications for C2orf88 Gene

No data available for DME Specific Peptides for C2orf88 Gene

Domains for C2orf88 Gene

Protein Domains for C2orf88 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SMAKA_HUMAN
Family:
  • Belongs to the small membrane AKAP family.:
    • Q9BSF0
genes like me logo Genes that share domains with C2orf88: view

No data available for Gene Families for C2orf88 Gene

Function for C2orf88 Gene

Molecular function for C2orf88 Gene

UniProtKB/Swiss-Prot Function: Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane.

Gene Ontology (GO) - Molecular Function for C2orf88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0034237 protein kinase A regulatory subunit binding IEA --
genes like me logo Genes that share ontologies with C2orf88: view

Phenotypes for C2orf88 Gene

GenomeRNAi human phenotypes for C2orf88:
genes like me logo Genes that share phenotypes with C2orf88: view

miRNA for C2orf88 Gene

miRTarBase miRNAs that target C2orf88

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for C2orf88 Gene

Localization for C2orf88 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2orf88 Gene

Cell membrane. Note=The GFP-tagged protein has been detected at the plasma membrane, enriched in filopodia and cell-cell junctions. {ECO:0000269 PubMed:23115245}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C2orf88 Gene COMPARTMENTS Subcellular localization image for C2orf88 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for C2orf88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with C2orf88: view

Pathways for C2orf88 Gene

SuperPathways for C2orf88 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C2orf88 Gene

None

No data available for Pathways by source for C2orf88 Gene

Transcripts for C2orf88 Gene

Unigene Clusters for C2orf88 Gene

Chromosome 2 open reading frame 88:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf88 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b
SP1:
SP2: - -
SP3: -

Relevant External Links for C2orf88 Gene

GeneLoc Exon Structure for
C2orf88
ECgene alternative splicing isoforms for
C2orf88

Expression for C2orf88 Gene

mRNA expression in normal human tissues for C2orf88 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C2orf88 Gene

SOURCE GeneReport for Unigene cluster for C2orf88 Gene Hs.389311

mRNA Expression by UniProt/SwissProt for C2orf88 Gene

Q9BSF0-SMAKA_HUMAN
Tissue specificity: Expressed in heart (at protein level).
genes like me logo Genes that share expressions with C2orf88: view

Orthologs for C2orf88 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C2orf88 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf88 36
  • 99.3 (n)
  • 98.95 (a)
C2orf88 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2H2orf88 36
  • 85.26 (n)
  • 74.74 (a)
C2H2orf88 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf88 37
  • 74 (a)
OneToOne
C37H2orf88 36
  • 83.16 (n)
  • 73.68 (a)
mouse
(Mus musculus)
Mammalia 1700019D03Rik 36
  • 72.34 (n)
  • 59.57 (a)
1700019D03Rik 16
1700019D03Rik 37
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf88 37
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102556334 36
  • 75.53 (n)
  • 61.7 (a)
Species with no ortholog for C2orf88:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C2orf88 Gene

ENSEMBL:
Gene Tree for C2orf88 (if available)
TreeFam:
Gene Tree for C2orf88 (if available)

Paralogs for C2orf88 Gene

No data available for Paralogs for C2orf88 Gene

Variants for C2orf88 Gene

Sequence variations from dbSNP and Humsavar for C2orf88 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1223 -- 190,198,579(-) TCACG(A/G)CTCAC intron-variant
rs11216 -- 190,203,335(-) GGTAG(A/T)GCTTC utr-variant-3-prime
rs185967 -- 189,979,932(-) gcata(C/T)ttgcc intron-variant
rs188280 -- 189,987,361(+) ttttt(A/C)tttcc intron-variant
rs188281 -- 189,958,314(+) GTGCA(C/T)ATTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf88 Gene

Variant ID Type Subtype PubMed ID
esv1004357 CNV Insertion 20482838
esv9098 CNV Gain 19470904
esv1262321 CNV Insertion 17803354
nsv526659 CNV Loss 19592680
esv2505341 CNV Deletion 19546169
nsv875619 CNV Gain 21882294
esv2053772 CNV Deletion 18987734
esv2558230 CNV Deletion 19546169

Relevant External Links for C2orf88 Gene

HapMap Linkage Disequilibrium report
C2orf88

Disorders for C2orf88 Gene

(1) University of Copenhagen DISEASES for C2orf88 Gene

genes like me logo Genes that share disorders with C2orf88: view

No data available for UniProtKB/Swiss-Prot for C2orf88 Gene

Publications for C2orf88 Gene

  1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4
  2. A small novel A-kinase anchoring protein (AKAP) that localizes specifically protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane. (PMID: 23115245) Burgers P.P. … Heck A.J. (J. Biol. Chem. 2012) 3 4
  3. Cypher/ZASP is a novel A-kinase anchoring protein. (PMID: 23996002) Lin C. … Cheng H. (J. Biol. Chem. 2013) 2 3
  4. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. (PMID: 24962325) Kapoor M. … Goate A. (Drug Alcohol Depend 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for C2orf88 Gene

Sources for C2orf88 Gene

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