Aliases for CCSER2 Gene

Aliases for CCSER2 Gene

  • Coiled-Coil Serine Rich Protein 2 2 3 5
  • KIAA1128 2 3 4
  • Serine-Rich Coiled-Coil Domain-Containing Protein 2 3 4
  • Family With Sequence Similarity 190, Member B 2 3
  • Coiled-Coil Serine-Rich Protein 2 2 4
  • Protein GCAP14 Homolog 3 4
  • FAM190B 3 4
  • Protein FAM190B 3
  • BA486O22.1 3
  • Gcap14 3
  • CCSER2 5

External Ids for CCSER2 Gene

Previous HGNC Symbols for CCSER2 Gene

  • KIAA1128
  • FAM190B

Previous GeneCards Identifiers for CCSER2 Gene

  • GC10P086088

Summaries for CCSER2 Gene

GeneCards Summary for CCSER2 Gene

CCSER2 (Coiled-Coil Serine Rich Protein 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is CCSER1.

UniProtKB/Swiss-Prot Summary for CCSER2 Gene

  • Microtubule-binding protein which might play a role in microtubule bundling.

Additional gene information for CCSER2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCSER2 Gene

Genomics for CCSER2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCSER2 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
GH10J084327 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 618.8 +1.1 1118 5.1 SP1 CREB1 GATAD2A ZNF629 LEF1 IKZF1 POLR2A ZNF692 BACH1 JUND CCSER2 piR-35674-054
GH10J084279 Promoter 1.3 EPDnew Ensembl 16.7 -48.5 -48451 1 LEF1 IKZF1 MTA2 PHF21A REST NR2C1 BRD9 ZNF24 DPF2 HDAC1 LINC00858 piR-33432-062 piR-47086-038 piR-45012-060 CCSER2 CDHR1 lnc-RGR-2 LRIT1
GH10J084293 Enhancer 1.1 Ensembl ENCODE 12.4 -33.1 -33086 4.5 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A PKNOX1 POLR2A ZNF24 MTA1 CCSER2 LRIT2 CDHR1 RGR RF00017-721 piR-33432-062 LINC00858 LRIT1
GH10J084267 Enhancer 0.8 Ensembl 17.5 -60.7 -60707 0.7 CTCF TEAD4 IKZF1 JUND REST RAD21 TRIM22 ELK1 SOX6 SCRT2 LINC00858 CCSER2 CDHR1 lnc-RGR-2 LRIT1
GH10J084333 Enhancer 0.9 ENCODE dbSUPER 12.9 +7.0 6979 4.7 ARHGAP35 PRDM10 PKNOX1 POLR2A IKZF2 ZNF24 ZNF341 TCF12 SCRT2 HMBOX1 CCSER2 piR-35674-054
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCSER2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCSER2

Genomic Locations for CCSER2 Gene

Genomic Locations for CCSER2 Gene
chr10:84,328,552-84,518,521
(GRCh38/hg38)
Size:
189,970 bases
Orientation:
Plus strand
chr10:86,088,342-86,278,276
(GRCh37/hg19)
Size:
189,935 bases
Orientation:
Plus strand

Genomic View for CCSER2 Gene

Genes around CCSER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCSER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCSER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCSER2 Gene

Proteins for CCSER2 Gene

  • Protein details for CCSER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7U1-CCSE2_HUMAN
    Recommended name:
    Serine-rich coiled-coil domain-containing protein 2
    Protein Accession:
    Q9H7U1
    Secondary Accessions:
    • B4DFY4
    • B4DQU9
    • B7WPE8
    • D3DWE2
    • Q8N6E9
    • Q9H2S0
    • Q9ULU1

    Protein attributes for CCSER2 Gene

    Size:
    834 amino acids
    Molecular mass:
    93548 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG44473.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH30528.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCSER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCSER2 Gene

Post-translational modifications for CCSER2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCSER2 Gene

Domains & Families for CCSER2 Gene

Gene Families for CCSER2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCSER2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCSER2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59872 (B4DFY4_HUMAN)
  • Protein GCAP14 homolog (F190B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H7U1

UniProtKB/Swiss-Prot:

CCSE2_HUMAN :
  • Belongs to the CCSER family.
Family:
  • Belongs to the CCSER family.
genes like me logo Genes that share domains with CCSER2: view

Function for CCSER2 Gene

Molecular function for CCSER2 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding protein which might play a role in microtubule bundling.

Phenotypes From GWAS Catalog for CCSER2 Gene

Gene Ontology (GO) - Molecular Function for CCSER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with CCSER2: view
genes like me logo Genes that share phenotypes with CCSER2: view

Animal Model Products

CRISPR Products

miRNA for CCSER2 Gene

miRTarBase miRNAs that target CCSER2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCSER2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCSER2 Gene

Localization for CCSER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCSER2 Gene

Cytoplasm, cytoskeleton. Note=Associates with microtubules in interphase. Has diffuse expression throughout the cell during mitosis. {ECO:0000250 UniProtKB:Q3UHI0}.

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 CCSER2 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCSER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCSER2: view

Pathways & Interactions for CCSER2 Gene

PathCards logo

SuperPathways for CCSER2 Gene

No Data Available

Interacting Proteins for CCSER2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q9H7U1-CCSE2_HUMAN ENSP00000361160 for CCSER2 Gene via MINT STRING IID

Gene Ontology (GO) - Biological Process for CCSER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation IEA --
genes like me logo Genes that share ontologies with CCSER2: view

No data available for Pathways by source and SIGNOR curated interactions for CCSER2 Gene

Drugs & Compounds for CCSER2 Gene

No Compound Related Data Available

Transcripts for CCSER2 Gene

mRNA/cDNA for CCSER2 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCSER2

Alternative Splicing Database (ASD) splice patterns (SP) for CCSER2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for CCSER2 Gene

GeneLoc Exon Structure for
CCSER2

Expression for CCSER2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCSER2 Gene

Protein differential expression in normal tissues from HIPED for CCSER2 Gene

This gene is overexpressed in Tlymphocyte (28.1), Heart (27.2), and Urinary Bladder (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCSER2 Gene



Protein tissue co-expression partners for CCSER2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCSER2

SOURCE GeneReport for Unigene cluster for CCSER2 Gene:

Hs.461988

Evidence on tissue expression from TISSUES for CCSER2 Gene

  • Nervous system(4.7)
  • Lung(4.2)
  • Muscle(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with CCSER2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCSER2 Gene

Orthologs for CCSER2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCSER2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1128 30
  • 99.59 (n)
CCSER2 31
  • 75 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM190B 30
  • 91.48 (n)
CCSER2 31
  • 27 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM190B 30
  • 90.96 (n)
CCSER2 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccser2 30
  • 85.2 (n)
Mouse
(Mus musculus)
Mammalia Ccser2 30 17 31
  • 84.4 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCSER2 31
  • 65 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCSER2 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM190B 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCSER2 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.17140 30
Zebrafish
(Danio rerio)
Actinopterygii CCSER2 (1 of 2) 31
  • 35 (a)
OneToMany
ccser2 31
  • 27 (a)
OneToMany
Species where no ortholog for CCSER2 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)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCSER2 Gene

ENSEMBL:
Gene Tree for CCSER2 (if available)
TreeFam:
Gene Tree for CCSER2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCSER2: view image

Paralogs for CCSER2 Gene

Paralogs for CCSER2 Gene

Pseudogenes.org Pseudogenes for CCSER2 Gene

genes like me logo Genes that share paralogs with CCSER2: view

Variants for CCSER2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCSER2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs11201058 - p.Cys755Tyr
rs11557865 - p.Ser819Pro
rs12569751 - p.Pro821Ser
rs3814205 - p.Asn84Ser

Additional dbSNP identifiers (rs#s) for CCSER2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCSER2 Gene

Variant ID Type Subtype PubMed ID
esv3624031 CNV loss 21293372
nsv1046749 CNV gain 25217958
nsv1141879 OTHER inversion 24896259
nsv522443 CNV gain 19592680
nsv551745 CNV gain 21841781
nsv551754 CNV loss 21841781
nsv831932 CNV loss 17160897
nsv948107 CNV duplication 23825009

Variation tolerance for CCSER2 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCSER2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCSER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCSER2 Gene

Disorders for CCSER2 Gene

No disorders were found for CCSER2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCSER2 Gene

Publications for CCSER2 Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  4. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. (PMID: 29467281) O'Loughlin T … Buss F (EMBO reports 2018) 3
  5. rec-YnH enables simultaneous many-by-many detection of direct protein-protein and protein-RNA interactions. (PMID: 30217970) Yang JS … Maurer SP (Nature communications 2018) 3

Products for CCSER2 Gene

Sources for CCSER2 Gene