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Aliases for C2orf88 Gene

Aliases for C2orf88 Gene

  • Chromosome 2 Open Reading Frame 88 2 3 5
  • Small Membrane AKAP 2 3 4
  • SmAKAP 3 4
  • Small Membrane A-Kinase Anchor Protein 3
  • Small A-Kinase Anchoring Protein 3

External Ids for C2orf88 Gene

Previous GeneCards Identifiers for C2orf88 Gene

  • GC02P190710
  • GC02P182862
  • GC02P190745

Summaries for C2orf88 Gene

GeneCards Summary for C2orf88 Gene

C2orf88 (Chromosome 2 Open Reading Frame 88) is a Protein Coding gene. Diseases associated with C2orf88 include Myostatin-Related Muscle Hypertrophy. Gene Ontology (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.

Additional gene information for C2orf88 Gene

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

Genomics for C2orf88 Gene

GeneHancer (GH) Regulatory Elements for C2orf88 Gene

Promoters and enhancers for C2orf88 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
GH02J190179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.1 +303.1 303100 6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 E2F8 C2orf88 WDR75 ORMDL1 NEMP2 PMS1 ANKAR LOC105373794 GC02M190201
GH02J189879 Enhancer 0.4 ENCODE 650.7 +0.0 17 0.2 ZNF202 POLR2A ZBTB33 C2orf88 LOC105373796 WDR75 PMS1 ANKAR ORMDL1 NEMP2 LOC100287965
GH02J190214 Enhancer 0.9 Ensembl ENCODE 18.4 +336.5 336486 3.3 SMAD1 NANOG NFIA NFIB ZNF491 ZIC2 NFIC ZNF766 LCORL ZBTB48 WDR75 C2orf88 HIBCH ANKAR PMS1 OSGEPL1 NAB1 GC02M190201 LOC105373794
GH02J189835 Enhancer 1.1 Ensembl ENCODE 11.4 -42.9 -42909 2.1 PKNOX1 ARNT FEZF1 BRCA1 ZNF121 ZNF213 TSHZ1 ATF4 MAFF STAT3 ORMDL1 C2orf88 LOC100421409 LOC105373796 PMS1
GH02J190090 Enhancer 0.2 FANTOM5 54 +210.8 210762 0.2 C2orf88 MSTN LOC105373794
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2orf88 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf88 gene promoter:
  • HNF-3beta
  • Bach1
  • Evi-1
  • POU2F1
  • POU2F1a
  • Nkx2-5
  • GATA-1

Genomic Locations for C2orf88 Gene

Genomic Locations for C2orf88 Gene
chr2:189,879,553-190,203,484
(GRCh38/hg38)
Size:
323,932 bases
Orientation:
Plus strand
chr2:190,744,335-191,068,210
(GRCh37/hg19)
Size:
323,876 bases
Orientation:
Plus strand

Genomic View for C2orf88 Gene

Genes around C2orf88 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf88 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf88 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.

    Three dimensional structures from OCA and Proteopedia for C2orf88 Gene

neXtProt entry for C2orf88 Gene

Post-translational modifications for C2orf88 Gene

No data available for DME Specific Peptides for C2orf88 Gene

Domains & Families for C2orf88 Gene

Gene Families for C2orf88 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf88 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf88 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BSF0

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for C2orf88 Gene

Gene Ontology (GO) - Molecular Function for C2orf88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0034237 protein kinase A regulatory subunit binding IEA --
genes like me logo Genes that share ontologies with C2orf88: view
genes like me logo Genes that share phenotypes with C2orf88: view

Animal Model Products

CRISPR Products

miRNA for C2orf88 Gene

miRTarBase miRNAs that target C2orf88

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf88

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C2orf88 gene
Compartment Confidence
plasma membrane 3
extracellular 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C2orf88 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with C2orf88: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2orf88 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for C2orf88 Gene

Drugs & Compounds for C2orf88 Gene

No Compound Related Data Available

Transcripts for C2orf88 Gene

Unigene Clusters for C2orf88 Gene

Chromosome 2 open reading frame 88:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2orf88

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf88 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C2orf88 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.2) and Platelet (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2orf88 Gene



NURSA nuclear receptor signaling pathways regulating expression of C2orf88 Gene:

C2orf88

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 expression patterns with C2orf88: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf88 Gene

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 33
  • 99.3 (n)
C2orf88 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2H2orf88 34 33
  • 85.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C37H2orf88 33
  • 83.16 (n)
C2orf88 34
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102556334 33
  • 75.53 (n)
mouse
(Mus musculus)
Mammalia 1700019D03Rik 16 34 33
  • 72.34 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf88 34
  • 37 (a)
OneToOne
Species where no ortholog for C2orf88 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1015348394 uncertain-significance, Myostatin-related muscle hypertrophy 190,056,335(+) A/G genic_upstream_transcript_variant, intron_variant
rs1042489794 uncertain-significance, Myostatin-related muscle hypertrophy 190,056,185(+) C/A genic_upstream_transcript_variant, intron_variant
rs114597606 likely-benign, Myostatin-related muscle hypertrophy 190,056,684(+) C/T genic_upstream_transcript_variant, intron_variant
rs12105165 benign, Myostatin-related muscle hypertrophy 190,055,744(+) G/C genic_upstream_transcript_variant, intron_variant
rs138343163 likely-benign, Myostatin-related muscle hypertrophy 190,062,334(+) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1004357 CNV insertion 20482838
esv1262321 CNV insertion 17803354
esv2053772 CNV deletion 18987734
esv2505341 CNV deletion 19546169
esv2558230 CNV deletion 19546169
esv3371438 CNV duplication 20981092
esv3593750 CNV loss 21293372
esv9098 CNV gain 19470904
nsv1114157 CNV deletion 24896259
nsv1117271 CNV tandem duplication 24896259
nsv1146691 CNV insertion 26484159
nsv526659 CNV loss 19592680

Variation tolerance for C2orf88 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.90; 67.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf88 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf88

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf88 Gene

Disorders for C2orf88 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C2orf88 Gene - From: GeneCards

Disorder Aliases PubMed IDs
myostatin-related muscle hypertrophy
  • mslhp
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C2orf88

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

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

Publications for C2orf88 Gene

  1. Structure of smAKAP and its regulation by PKA-mediated phosphorylation. (PMID: 27028580) Burgers PP … Scholten A (The FEBS journal 2016) 2 3 58
  2. Cypher/ZASP is a novel A-kinase anchoring protein. (PMID: 23996002) Lin C … Cheng H (The Journal of biological chemistry 2013) 2 3 58
  3. 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 PP … Heck AJ (The Journal of biological chemistry 2012) 3 4 58
  4. 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 research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58

Products for C2orf88 Gene

Sources for C2orf88 Gene

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