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

Gene ID: 114800, updated on 28-Oct-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, Oct 2024]
Expression
Biased expression in fat (RPKM 10.6), brain (RPKM 8.5) and 11 other tissues See more
Orthologs
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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 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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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)

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

  • KIAA1912

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 biological_process ND
No biological Data available
more info
  
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

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