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

Gene ID: 130940, updated on 9-Jun-2025
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
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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC125588, MGC125590

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Preferred Names
coiled-coil domain-containing protein 148

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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_001301684.2NP_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:285355
    Endonuc_Holl; Endonuclease related to archaeal Holliday junction resolvase
  2. NM_001301685.2NP_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:49199
    NrfA; Formate-dependent nitrite reductase, periplasmic cytochrome c552 subunit [Inorganic ion transport and metabolism]
  3. NM_138803.4NP_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:431501
    Endonuc_Holl; Endonuclease related to archaeal Holliday junction resolvase
    cl23833
    Location:49199
    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.