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CCDC102A coiled-coil domain containing 102A [ Homo sapiens (human) ]

Gene ID: 92922, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC102Aprovided by HGNC
Official Full Name
coiled-coil domain containing 102Aprovided by HGNC
Primary source
HGNC:HGNC:28097
See related
Ensembl:ENSG00000135736 AllianceGenome:HGNC:28097
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 part of myosin complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 2.8), endometrium (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q21
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57512181..57537016, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63307389..63331765, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57546093..57570483, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5957 Neighboring gene Sharpr-MPRA regulatory region 83 Neighboring gene coenzyme Q9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57506902-57507423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57507424-57507944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57508610-57509398 Neighboring gene RNA polymerase II subunit C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57519658-57520454 Neighboring gene docking protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57541954-57542946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57543642-57544142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43689 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57562855-57563355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566372-57566931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566932-57567490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10900 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43712 Neighboring gene adhesion G protein-coupled receptor G5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57598339-57598840 Neighboring gene uncharacterized LOC105371291 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10902 Neighboring gene uncharacterized LOC107984889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10903 Neighboring gene high mobility group box 3 pseudogene 32

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. Novel susceptibility genes associated with diabetic cataract in a Taiwanese population. Lin HJ, et al. Ophthalmic Genet, 2013 Mar-Jun. PMID 23137000
  2. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article
  3. Targeting TRIM37-driven centrosome dysfunction in 17q23-amplified breast cancer. Yeow ZY, et al. Nature, 2020 Sep. PMID 32908313, Free PMC Article
  4. Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma. Freire-Benéitez V, et al. NAR Cancer, 2021 Mar. PMID 34316702, Free PMC Article
  5. Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. Yamauchi T, et al. Cancer Cell, 2018 Mar 12. PMID 29478914, Free PMC Article

See all (14) 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

EBI GWAS Catalog

Description
Novel susceptibility genes associated with diabetic cataract in a Taiwanese population.
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

  • MGC10992, MGC13119

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 102A

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_033212.4 → NP_149989.2  coiled-coil domain-containing protein 102A

    See identical proteins and their annotated locations for NP_149989.2

    Status: VALIDATED

    Source sequence(s)
    AC004382, BC009941, CA449463
    Consensus CDS
    CCDS10784.1
    UniProtKB/Swiss-Prot
    Q96A19, Q9BT74
    Related
    ENSP00000258214.2, ENST00000258214.3
    Conserved Domains (1) summary
    pfam16046
    Location:382 → 465
    FAM76; FAM76 protein

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    57512181..57537016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523469.3 → XP_011521771.1  coiled-coil domain-containing protein 102A isoform X1

    See identical proteins and their annotated locations for XP_011521771.1

    UniProtKB/Swiss-Prot
    Q96A19, Q9BT74
    Conserved Domains (1) summary
    pfam16046
    Location:382 → 465
    FAM76; FAM76 protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    63307389..63331765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96A19.2 GenPept UniProtKB/Swiss-Prot:Q96A19

Gene LinkOut

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

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