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    CCDC85A coiled-coil domain containing 85A [ Homo sapiens (human) ]

    Gene ID: 114800, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CCDC85Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 85Aprovided by HGNC
    Primary source
    HGNC:HGNC:29400
    See related
    Ensembl:ENSG00000055813 AllianceGenome:HGNC:29400
    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
    Located in adherens junction. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in fat (RPKM 10.6), brain (RPKM 8.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC85A in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (56183852..56386174)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (56178293..56383162)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (56411125..56613309)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374690 Neighboring gene MIR217 host gene Neighboring gene microRNA 216b Neighboring gene long intergenic non-protein coding RNA 1813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:56346884-56347414 Neighboring gene uncharacterized LOC100129434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11502 Neighboring gene RNA, 5S ribosomal pseudogene 93 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:56514747-56515946 Neighboring gene uncharacterized LOC101927213 Neighboring gene peptidylprolyl isomerase A pseudogene 63

    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. 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
    2. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. Nagase T, et al. DNA Res, 2001 Aug 31. PMID 11572484
    4. The C. elegans homolog of human panic-disorder risk gene TMEM132D orchestrates neuronal morphogenesis through the WAVE-regulatory complex. Wang X, et al. Mol Brain, 2021 Mar 16. PMID 33726789, Free PMC Article
    5. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Perry JR, et al. Nature, 2014 Oct 2. PMID 25231870, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 85A

    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_001080433.2 → NP_001073902.1  coiled-coil domain-containing protein 85A isoform 2

      See identical proteins and their annotated locations for NP_001073902.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007743, AC007744
      Consensus CDS
      CCDS46290.1
      UniProtKB/Swiss-Prot
      Q96PX6
      Related
      ENSP00000384040.2, ENST00000407595.3
      Conserved Domains (1) summary
      pfam10226
      Location:34 → 207
      DUF2216; Uncharacterized conserved proteins (DUF2216)

    2. NM_001348512.1 → NP_001335441.1  coiled-coil domain-containing protein 85A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC007743, AC007744
      Conserved Domains (2) summary
      pfam10226
      Location:34 → 207
      CCDC85; CCDC85 family
      cl25751
      Location:224 → 327
      DUF4045; Domain of unknown function (DUF4045)

    3. NM_001348513.1 → NP_001335442.1  coiled-coil domain-containing protein 85A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007743, AC007744
      Conserved Domains (2) summary
      pfam10226
      Location:34 → 207
      CCDC85; CCDC85 family
      cl25751
      Location:224 → 327
      DUF4045; Domain of unknown function (DUF4045)

    4. NM_001348514.1 → NP_001335443.1  coiled-coil domain-containing protein 85A isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007743, AC007744
      Conserved Domains (2) summary
      pfam10226
      Location:34 → 207
      CCDC85; CCDC85 family
      cl25751
      Location:224 → 327
      DUF4045; Domain of unknown function (DUF4045)

    5. NM_001348515.1 → NP_001335444.1  coiled-coil domain-containing protein 85A isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC007743, AC007744
      Conserved Domains (2) summary
      pfam10226
      Location:34 → 207
      CCDC85; CCDC85 family
      cl25751
      Location:224 → 327
      DUF4045; Domain of unknown function (DUF4045)

    6. NM_001348516.1 → NP_001335445.1  coiled-coil domain-containing protein 85A isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks four alternate exons, including one which causes a frameshift, compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC007743, AC007744
      Conserved Domains (2) summary
      pfam10226
      Location:34 → 207
      CCDC85; CCDC85 family
      cl25751
      Location:224 → 327
      DUF4045; Domain of unknown function (DUF4045)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      56183852..56386174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452642.2 → XP_024308410.1  coiled-coil domain-containing protein 85A isoform X1

      Conserved Domains (2) summary
      pfam10226
      Location:34 → 178
      CCDC85; CCDC85 family
      cl25751
      Location:195 → 298
      DUF4045; Domain of unknown function (DUF4045)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      56178293..56383162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340352.1 → XP_054196327.1  coiled-coil domain-containing protein 85A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PX6.3 GenPept UniProtKB/Swiss-Prot:Q96PX6

    Gene LinkOut

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

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