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    CCDC148 coiled-coil domain containing 148 [ Homo sapiens (human) ]

    Gene ID: 130940, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC148provided by HGNC
    Official Full Name
    coiled-coil domain containing 148provided by HGNC
    Primary source
    HGNC:HGNC:25191
    See related
    Ensembl:ENSG00000153237 AllianceGenome:HGNC:25191
    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 testis (RPKM 1.5), kidney (RPKM 1.2) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC148 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (158171073..158456753, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158627837..158913558, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (159027585..159313265, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 932, pseudogene Neighboring gene uridine phosphorylase 2 Neighboring gene PTP4A1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:158969881-158971080 Neighboring gene CCDC148 antisense RNA 1 Neighboring gene MPRA-validated peak3909 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16679 Neighboring gene MPRA-validated peak3910 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159079757-159080256 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:159251719-159251872 Neighboring gene HNRNPDL pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 156 Neighboring gene uncharacterized LOC124907900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12039 Neighboring gene RNA, 7SL, cytoplasmic 393, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8835 Neighboring gene NANOG hESC enhancer GRCh37_chr2:159353481-159353982 Neighboring gene plakophilin 4 Neighboring gene ribosomal protein L7a pseudogene 22

    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. Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms. Liang Y, et al. Pharmacogenet Genomics, 2024 Jun 1. PMID 38359166
    2. Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1. Leikauf GD, et al. Am J Respir Crit Care Med, 2011 Jun 1. PMID 21297076, Free PMC Article
    3. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682, Free PMC Article
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.
      Title: Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.
    2. CCCDC148 is associated with acute lung injury in mice
      Title: Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
    3. 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.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
    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

    • MGC125588, MGC125590

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 148

    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_001301684.2 → NP_001288613.1  coiled-coil domain-containing protein 148 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC019044, AC069146, AK123220, AK308783, BC107596
      UniProtKB/Swiss-Prot
      Q8NFR7
      Conserved Domains (1) summary
      cl01958
      Location:285 → 355
      Endonuc_Holl; Endonuclease related to archaeal Holliday junction resolvase

    2. NM_001301685.2 → NP_001288614.1  coiled-coil domain-containing protein 148 isoform 4

      See identical proteins and their annotated locations for NP_001288614.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' terminal exon, resulting in earlier translation termination and an alternate 3' UTR, compared to variant 1. The encoded isoform (4) is shorter at the C-terminus, compared to isoform 1.
      Source sequence(s)
      AK058105, AK308783, BC015395
      Consensus CDS
      CCDS77476.1
      UniProtKB/Swiss-Prot
      Q8NFR7
      Related
      ENSP00000386583.1, ENST00000409889.1
      Conserved Domains (1) summary
      cl23833
      Location:49 → 199
      NrfA; Formate-dependent nitrite reductase, periplasmic cytochrome c552 subunit [Inorganic ion transport and metabolism]

    3. NM_138803.4 → NP_620158.3  coiled-coil domain-containing protein 148 isoform 1

      See identical proteins and their annotated locations for NP_620158.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC019044, AC069146, AF458588, AK123220, DA230063
      Consensus CDS
      CCDS33304.1
      UniProtKB/Swiss-Prot
      F5H839, Q3B7I3, Q3B7I4, Q3KR41, Q4ZG12, Q4ZG23, Q53TM6, Q8NFR7, Q96BN5, Q96LM2
      UniProtKB/TrEMBL
      B8ZZV3
      Related
      ENSP00000283233.5, ENST00000283233.10
      Conserved Domains (2) summary
      cl01958
      Location:431 → 501
      Endonuc_Holl; Endonuclease related to archaeal Holliday junction resolvase
      cl23833
      Location:49 → 199
      NrfA; Formate-dependent nitrite reductase, periplasmic cytochrome c552 subunit [Inorganic ion transport and metabolism]

    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
      158171073..158456753 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      158627837..158913558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001171637.1: Suppressed sequence

      Description
      NM_001171637.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFR7.2 GenPept UniProtKB/Swiss-Prot:Q8NFR7

    Gene LinkOut

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

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