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Aliases for CCDC136 Gene

Aliases for CCDC136 Gene

  • Coiled-Coil Domain Containing 136 2 3 5
  • Nasopharyngeal Carcinoma-Associated Gene 6 Protein 3 4
  • Coiled-Coil Domain-Containing Protein 136 3
  • KIAA1793 4
  • NAG6 3

External Ids for CCDC136 Gene

Previous GeneCards Identifiers for CCDC136 Gene

  • GC07P128219
  • GC07P128430
  • GC07P122792
  • GC07P128791
  • GC07P128793

Summaries for CCDC136 Gene

GeneCards Summary for CCDC136 Gene

CCDC136 (Coiled-Coil Domain Containing 136) is a Protein Coding gene. Diseases associated with CCDC136 include Gastric Cancer. An important paralog of this gene is SLMAP.

UniProtKB/Swiss-Prot for CCDC136 Gene

  • May play a role in acrosome formation in spermatogenesis and in fertilization.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC136 Gene

Genomics for CCDC136 Gene

Regulatory Elements for CCDC136 Gene

Enhancers for CCDC136 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F128858 1.4 Ensembl ENCODE 18.5 +69.3 69281 3.0 HDGF PKNOX1 ARNT SIN3A YBX1 CBX5 GATA2 KDM4B NCOA1 ZNF623 CCDC136 OPN1SW ENSG00000243230 SMO FLNC RBM28 IMP3P2 ENSG00000241493 FAM71F2 LOC392787
GH07F128814 0.5 ENCODE 12.1 +24.1 24140 1.1 HDGF ATF1 PKNOX1 ARNT YY1 ZNF766 GATA2 KDM4B ZNF263 TBX21 CCDC136 OPN1SW ATP6V1F ENSG00000242902 IMP3P2 FAM71F2 ENSG00000241493 FAM71F1 CALU GC07P128820
GH07F128767 0.7 ENCODE 11.7 -22.9 -22867 0.1 ZBTB8A ZBTB7A ZFHX2 IKZF1 PATZ1 ZNF341 WT1 ZBTB20 EGR2 ZBTB17 CCDC136 CALU IMP3P2 ENSG00000241493 FAM71F2 GC07P128826 GC07P128847 RN7SL81P
GH07F128754 0.2 ENCODE 11.7 -34.8 -34799 3.2 CTCF ZNF362 SIN3A HIC1 JUND ZNF316 POLR2A FOS FOXP2 OPN1SW CALU CCDC136 IMP3P2 FAM71F2 ENSG00000241493 FLNC FAM71F1 RN7SL81P
GH07F128744 0.6 Ensembl 10.8 -46.1 -46057 0.2 ZNF341 SUPT5H OPN1SW IMP3P2 ENSG00000241493 FAM71F2 CCDC136 FAM71F1 CALU RN7SL81P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCDC136 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC136 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000313015 643 2001 ZNF2 ZNF121 GLIS2 KLF7 FOS KLF13 ZNF263 SP3 SP5 REST

Genomic Location for CCDC136 Gene

Chromosome:
7
Start:
128,790,757 bp from pter
End:
128,822,133 bp from pter
Size:
31,377 bases
Orientation:
Plus strand

Genomic View for CCDC136 Gene

Genes around CCDC136 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC136 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC136 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC136 Gene

Proteins for CCDC136 Gene

  • Protein details for CCDC136 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JN2-CC136_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 136
    Protein Accession:
    Q96JN2
    Secondary Accessions:
    • A4D1K1
    • A7MCY7
    • A8MYA7
    • Q6ZVK7
    • Q9H8M3
    • Q9UFE1

    Protein attributes for CCDC136 Gene

    Size:
    1154 amino acids
    Molecular mass:
    134045 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Restriction fragment length polymorphisms (RFLPs) in gastric cancer showed loss of 5 kb fragment in comparison with the corresponding normal tissue.
    SequenceCaution:
    • Sequence=AF156971; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB14590.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB47422.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC136 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC136 Gene

Post-translational modifications for CCDC136 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC136 Gene

Domains & Families for CCDC136 Gene

Protein Domains for CCDC136 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC136 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC136: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC136 Gene

Function for CCDC136 Gene

Molecular function for CCDC136 Gene

UniProtKB/Swiss-Prot Function:
May play a role in acrosome formation in spermatogenesis and in fertilization.
genes like me logo Genes that share phenotypes with CCDC136: view

Animal Model Products

miRNA for CCDC136 Gene

miRTarBase miRNAs that target CCDC136

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC136 Gene

Localization for CCDC136 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC136 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome membrane; Single-pass membrane protein. Note=Exclusively localized on a peripheral part of acrosome membrane (Golgi phase), localized on the equatorial segment of the acrosome (maturation phase). {ECO:0000250 UniProtKB:Q3TVA9}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC136 Gene COMPARTMENTS Subcellular localization image for CCDC136 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CCDC136 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002080 acrosomal membrane ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCDC136: view

Pathways & Interactions for CCDC136 Gene

SuperPathways for CCDC136 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC136 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly ISS --
GO:0007283 spermatogenesis ISS --
GO:0007338 single fertilization ISS --
genes like me logo Genes that share ontologies with CCDC136: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC136 Gene

Transcripts for CCDC136 Gene

Unigene Clusters for CCDC136 Gene

Coiled-coil domain containing 136:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC136 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - -
SP2: - - - - - - - - - - - - - - - - -
SP3: - - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: -

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CCDC136 Gene

GeneLoc Exon Structure for
CCDC136
ECgene alternative splicing isoforms for
CCDC136

Expression for CCDC136 Gene

mRNA expression in normal human tissues for CCDC136 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC136 Gene

This gene is overexpressed in Testis (x14.6) and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for CCDC136 Gene

This gene is overexpressed in Testis (14.1), Heart (12.8), Fetal ovary (12.7), Platelet (11.9), and Frontal cortex (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCDC136 Gene



Protein tissue co-expression partners for CCDC136 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC136 Gene:

CCDC136

SOURCE GeneReport for Unigene cluster for CCDC136 Gene:

Hs.521178

mRNA Expression by UniProt/SwissProt for CCDC136 Gene:

Q96JN2-CC136_HUMAN
Tissue specificity: Expressed in gastric tissues. Down-regulated in gastric cancer.
genes like me logo Genes that share expression patterns with CCDC136: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CCDC136 Gene

Orthologs for CCDC136 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC136 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC136 34 35
  • 98.66 (n)
dog
(Canis familiaris)
Mammalia CCDC136 34 35
  • 85.58 (n)
cow
(Bos Taurus)
Mammalia CCDC136 34 35
  • 83.2 (n)
mouse
(Mus musculus)
Mammalia Ccdc136 34 16 35
  • 80.79 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc136 34
  • 80.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC136 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC136 35
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc136 34
  • 57.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330186 34
  • 56.68 (n)
ccdc136b 35 35
  • 36 (a)
OneToMany
slmapb 35
  • 22 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17494 35
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M4.1 35
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8207 35
  • 15 (a)
OneToMany
Species where no ortholog for CCDC136 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CCDC136 Gene

ENSEMBL:
Gene Tree for CCDC136 (if available)
TreeFam:
Gene Tree for CCDC136 (if available)

Paralogs for CCDC136 Gene

Paralogs for CCDC136 Gene

(1) SIMAP similar genes for CCDC136 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CCDC136: view

Variants for CCDC136 Gene

Sequence variations from dbSNP and Humsavar for CCDC136 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10549190 -- 128,798,361(+) ATTCT(-/TCT)GCCTC intron-variant, upstream-variant-2KB
rs111409895 -- 128,811,299(+) GGCCC(-/AGAGAGCCTGGGA)AACAT intron-variant, reference, frameshift-variant
rs111429446 -- 128,812,537(+) CAGTC(C/T)GTTTC intron-variant, downstream-variant-500B
rs111487009 -- 128,794,076(+) CTGAG(C/T)GGGCA intron-variant
rs111666809 -- 128,798,355(+) GAAGC(A/G)ATTCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CCDC136 Gene

Variant ID Type Subtype PubMed ID
dgv11611n54 CNV loss 21841781
dgv11612n54 CNV loss 21841781
esv1249692 CNV insertion 17803354
esv22837 CNV gain 19812545
esv2642516 CNV insertion 19546169
esv2670312 CNV deletion 23128226
esv2735137 CNV deletion 23290073
nsv1140844 CNV deletion 24896259
nsv464713 CNV loss 19166990
nsv464715 CNV loss 19166990
nsv512922 CNV insertion 21212237
nsv517923 CNV gain 19592680
nsv818553 CNV gain 17921354
nsv819324 CNV loss 19587683
nsv831125 CNV loss 17160897

Variation tolerance for CCDC136 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.26; 70.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC136 Gene

Human Gene Mutation Database (HGMD)
CCDC136
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC136

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC136 Gene

Disorders for CCDC136 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC136 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gastric cancer
  • stomach cancer
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CCDC136

Genetic Association Database (GAD)
CCDC136
Human Genome Epidemiology (HuGE) Navigator
CCDC136
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC136
genes like me logo Genes that share disorders with CCDC136: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC136 Gene

Publications for CCDC136 Gene

  1. Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis. (PMID: 15112360) Zhang X.-M. … Li G.-Y. (World J. Gastroenterol. 2004) 2 3 4 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4 64

Products for CCDC136 Gene

Sources for CCDC136 Gene

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