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

    Gene ID: 114800, updated on 17-Jun-2019

    Summary

    Official Symbol
    CCDC85Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 85Aprovided by HGNC
    Primary source
    HGNC:HGNC:29400
    See related
    Ensembl:ENSG00000055813
    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
    Expression
    Biased expression in fat (RPKM 10.6), brain (RPKM 8.5) and 11 other tissues See more
    Orthologs

    Genomic context

    See CCDC85A in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (56183990..56386174)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (56411258..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 uncharacterized LOC100129434 Neighboring gene uncharacterized LOC107985795 Neighboring gene RNA, 5S ribosomal pseudogene 93 Neighboring gene uncharacterized LOC101927213 Neighboring gene uncharacterized LOC107985886

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1912

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 85A

    NCBI Reference Sequences (RefSeq)

    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_001080433.2NP_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:34207
      DUF2216; Uncharacterized conserved proteins (DUF2216)
    2. NM_001348512.1NP_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:34207
      CCDC85; CCDC85 family
      cl25751
      Location:224327
      DUF4045; Domain of unknown function (DUF4045)
    3. NM_001348513.1NP_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:34207
      CCDC85; CCDC85 family
      cl25751
      Location:224327
      DUF4045; Domain of unknown function (DUF4045)
    4. NM_001348514.1NP_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:34207
      CCDC85; CCDC85 family
      cl25751
      Location:224327
      DUF4045; Domain of unknown function (DUF4045)
    5. NM_001348515.1NP_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:34207
      CCDC85; CCDC85 family
      cl25751
      Location:224327
      DUF4045; Domain of unknown function (DUF4045)
    6. NM_001348516.1NP_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:34207
      CCDC85; CCDC85 family
      cl25751
      Location:224327
      DUF4045; Domain of unknown function (DUF4045)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      56183990..56386174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      pfam10226
      Location:34178
      CCDC85; CCDC85 family
      cl25751
      Location:195298
      DUF4045; Domain of unknown function (DUF4045)
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