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    CCDC85C coiled-coil domain containing 85C [ Homo sapiens (human) ]

    Gene ID: 317762, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCDC85Cprovided by HGNC
    Official Full Name
    coiled-coil domain containing 85Cprovided by HGNC
    Primary source
    HGNC:HGNC:35459
    See related
    Ensembl:ENSG00000205476 AllianceGenome:HGNC:35459
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in cerebral cortex development. Predicted to act upstream of or within several processes, including Notch signaling pathway; establishment of cell polarity; and radial glial cell differentiation. Located in adherens junction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC85C in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99500190..99604207, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93731756..93835650, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (99966527..100070544, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99750257-99750979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99784572-99785298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99786594-99787222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99787223-99787850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99788913-99789673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99798343-99799050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99799051-99799757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99814550-99815224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99815225-99815898 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:99827260-99827481 Neighboring gene Sharpr-MPRA regulatory region 7827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99849405-99850263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99860795-99861575 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99874757-99875323 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:99878378-99879044 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99879711-99880376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99890523-99891386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99891387-99892249 Neighboring gene SET domain containing 3, actin N3(tau)-histidine methyltransferase Neighboring gene RNA, U6 small nuclear 91, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:99946327-99946828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99968944-99969444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99969445-99969945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99974643-99975198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99977641-99978142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99978143-99978642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99978643-99979643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99988085-99988644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99988645-99989206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99995945-99996467 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99996990-99997512 Neighboring gene cyclin K Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:99997513-99998033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:99999970-100000571 Neighboring gene uncharacterized LOC105370661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100003689-100004280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100004281-100004872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100006217-100006952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100011369-100012103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100017717-100018455 Neighboring gene HNF4 motif-containing MPRA enhancer 184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100029329-100030250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100030251-100031170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100033011-100033930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100035771-100036690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100036691-100037611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100037612-100038531 Neighboring gene VISTA enhancer hs1931 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:100045528-100046727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100054779-100055374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100057164-100057760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100064325-100065207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100068739-100069392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6067 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100090366-100091068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9005 Neighboring gene HHIP like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118444-100118944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118945-100119445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100128755-100129256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100129257-100129756 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130377-100130920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130921-100131465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100135414-100135955 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:100136897-100137496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100137497-100138098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100138099-100138698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100141430-100141993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100142557-100143120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100143121-100143683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100174717-100175236 Neighboring gene cytochrome P450 family 46 subfamily A member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cadmium promotes the binding and centrosomal translocation of CCDC85C and PLK4 via ROS-GCLM pathway to trigger centrosome amplification in colon cancer cells. Han YW, et al. Toxicol Lett, 2024 Feb. PMID 38185225
    2. Genetic Determinants of Survival in Patientswith Alzheimer’s Disease. Wang X, et al. J Alzheimers Dis, 2015. PMID 25649651, Free PMC Article
    3. Ccdc85C, a causative protein for hydrocephalus and subcortical heterotopia, is expressed in the systemic epithelia with proliferative activity in rats. Tanaka N, et al. Histol Histopathol, 2015 Jul. PMID 25644709
    4. DIPA-family coiled-coils bind conserved isoform-specific head domain of p120-catenin family: potential roles in hydrocephalus and heterotopia. Markham NO, et al. Mol Biol Cell, 2014 Sep 1. PMID 25009281, Free PMC Article
    5. Ccdc85c encoding a protein at apical junctions of radial glia is disrupted in hemorrhagic hydrocephalus (hhy) mice. Mori N, et al. Am J Pathol, 2012 Jan. PMID 22056358

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22558, MGC117455

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in apical junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in apical junction complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 85C

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001144995.2 → NP_001138467.1  coiled-coil domain-containing protein 85C

      See identical proteins and their annotated locations for NP_001138467.1

      Status: VALIDATED

      Source sequence(s)
      AL110504, AL160313
      Consensus CDS
      CCDS45161.1
      UniProtKB/Swiss-Prot
      A6NKD9
      Related
      ENSP00000369592.4, ENST00000380243.9
      Conserved Domains (1) summary
      pfam10226
      Location:12 → 202
      CCDC85; CCDC85 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      99500190..99604207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431328.1 → XP_047287284.1  coiled-coil domain-containing protein 85C isoform X2

    2. XM_011536706.3 → XP_011535008.1  coiled-coil domain-containing protein 85C isoform X1

      Conserved Domains (1) summary
      pfam10226
      Location:12 → 202
      DUF2216; Uncharacterized conserved proteins (DUF2216)

    3. XM_011536707.3 → XP_011535009.1  coiled-coil domain-containing protein 85C isoform X3

      Conserved Domains (1) summary
      pfam10226
      Location:12 → 202
      DUF2216; Uncharacterized conserved proteins (DUF2216)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      93731756..93835650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375946.1 → XP_054231921.1  coiled-coil domain-containing protein 85C isoform X1

    2. XM_054375947.1 → XP_054231922.1  coiled-coil domain-containing protein 85C isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022747.1: Suppressed sequence

      Description
      NM_022747.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    2. NM_174979.2: Suppressed sequence

      Description
      NM_174979.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NKD9.1 GenPept UniProtKB/Swiss-Prot:A6NKD9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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