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

Gene ID: 114800, updated on 15-Apr-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 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (56184123..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.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    56184123..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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