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CCDC97 coiled-coil domain containing 97 [ Homo sapiens (human) ]

Gene ID: 90324, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC97provided by HGNC
Official Full Name
coiled-coil domain containing 97provided by HGNC
Primary source
HGNC:HGNC:28289
See related
Ensembl:ENSG00000142039 AllianceGenome:HGNC:28289
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
Ubiquitous expression in testis (RPKM 8.9), ovary (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC97 in Genome Data Viewer
Location:
19q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41310172..41324873)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44131031..44145731)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41816077..41830778)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein U like 1 Neighboring gene RNA, 7SL, cytoplasmic 34, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15507 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:41806393-41807592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14672 Neighboring gene uncharacterized LOC105372401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41825837-41826574 Neighboring gene Sharpr-MPRA regulatory regions 2264 and 10656 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41828472-41828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41829057-41829826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41830597-41831366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41831367-41832136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41833547-41834068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14676 Neighboring gene transforming growth factor beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41860203-41860704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14679 Neighboring gene B9 domain containing 2 Neighboring gene transmembrane protein 91

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. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. Guard SE, et al. Sci Rep, 2019 Apr 25. PMID 31024071, Free PMC Article
  2. WW domains provide a platform for the assembly of multiprotein networks. Ingham RJ, et al. Mol Cell Biol, 2005 Aug. PMID 16055720, Free PMC Article
  3. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
  4. SETD1A Methyltransferase Is Physically and Functionally Linked to the DNA Damage Repair Protein RAD18. Alsulami M, et al. Mol Cell Proteomics, 2019 Jul. PMID 31076518, Free PMC Article
  5. WDR76 Co-Localizes with Heterochromatin Related Proteins and Rapidly Responds to DNA Damage. Gilmore JM, et al. PLoS One, 2016. PMID 27248496, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
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

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

  • FLJ40267, MGC20255

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
coiled-coil domain-containing protein 97

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_001346100.2 → NP_001333029.1  coiled-coil domain-containing protein 97 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC011462
    Conserved Domains (1) summary
    pfam09747
    Location:94 → 256
    DUF2052; Coiled-coil domain containing protein (DUF2052)

  2. NM_052848.3 → NP_443080.1  coiled-coil domain-containing protein 97 isoform 1

    See identical proteins and their annotated locations for NP_443080.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC011577, DR001364
    Consensus CDS
    CCDS12578.1
    UniProtKB/Swiss-Prot
    Q658N6, Q96F63, Q96IF3
    Related
    ENSP00000269967.2, ENST00000269967.4
    Conserved Domains (1) summary
    pfam09747
    Location:159 → 321
    DUF2052; Coiled-coil domain containing protein (DUF2052)

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    41310172..41324873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44131031..44145731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96F63.1 GenPept UniProtKB/Swiss-Prot:Q96F63

Gene LinkOut

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

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