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

Gene ID: 317762, updated on 5-Mar-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. Located in adherens junction. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q32.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99500190..99604207, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93731756..93835650, complement)
105.20220307 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
  • 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. Genetic Determinants of Survival in Patientswith Alzheimer’s Disease. Wang X, et al. J Alzheimers Dis, 2015. PMID 25649651, Free PMC Article
  2. 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
  3. Cytokinesis involves a nontranscriptional function of the Hippo pathway effector YAP. Bui DA, et al. Sci Signal, 2016 Mar 1. PMID 26933062, Free PMC Article
  4. Citron kinase interacts with LATS2 and inhibits its activity by occluding its hydrophobic phosphorylation motif. Tran THY, et al. J Mol Cell Biol, 2019 Dec 23. PMID 30865227, Free PMC Article
  5. PLK4 deubiquitination by Spata2-CYLD suppresses NEK7-mediated NLRP3 inflammasome activation at the centrosome. Yang XD, et al. EMBO J, 2020 Jan 15. PMID 31762063, Free PMC Article

See all (47) 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

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_2023_10

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

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