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    CCDC74B coiled-coil domain containing 74B [ Homo sapiens (human) ]

    Gene ID: 91409, updated on 10-Oct-2024

    Summary

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    Official Symbol
    CCDC74Bprovided by HGNC
    Official Full Name
    coiled-coil domain containing 74Bprovided by HGNC
    Primary source
    HGNC:HGNC:25267
    See related
    Ensembl:ENSG00000152076 AllianceGenome:HGNC:25267
    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 21.7), endometrium (RPKM 3.3) and 8 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CCDC74B in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130139287..130145112, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130573189..130579014, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (130896860..130902685, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fatty acyl-CoA reductase 2 pseudogene 1 Neighboring gene cytochrome P450 family 4 subfamily F member 27, pseudogene Neighboring gene POTE ankyrin domain family member F Neighboring gene RNA, U6 small nuclear 1049, pseudogene Neighboring gene POTEF antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:130886707-130887281 Neighboring gene mediator complex subunit 15 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130917957-130918586 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:130921824-130922007 Neighboring gene sphingomyelin phosphodiesterase 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130938087-130938883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130940784-130941520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130941521-130942257 Neighboring gene mitotic spindle organizing protein 2B Neighboring gene tubulin alpha 3e

    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. CCDC74A/B are K-fiber crosslinkers required for chromosomal alignment. Zhou H, et al. BMC Biol, 2019 Sep 14. PMID 31521166, Free PMC Article
    2. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    3. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
    4. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (12) 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

    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

    • DKFZp434E2321

    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 74B

    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_001258307.2 → NP_001245236.1  coiled-coil domain-containing protein 74B isoform 2

      See identical proteins and their annotated locations for NP_001245236.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC018804
      Consensus CDS
      CCDS58726.1
      UniProtKB/TrEMBL
      A0AAG2UVR1
      Related
      ENSP00000386294.3, ENST00000409943.8
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:197 → 311
      CCDC74_C; Coiled coil protein 74, C terminal

    2. NM_207310.4 → NP_997193.1  coiled-coil domain-containing protein 74B isoform 1

      See identical proteins and their annotated locations for NP_997193.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC018804
      Consensus CDS
      CCDS2155.1
      UniProtKB/Swiss-Prot
      Q6NW18, Q96LY2
      UniProtKB/TrEMBL
      A0AAG2UVY4
      Related
      ENSP00000308873.6, ENST00000310463.10
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:263 → 377
      CCDC74_C; Coiled coil protein 74, C terminal

    RNA

    1. NR_165309.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018804

    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
      130139287..130145112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712837.3 → XP_006712900.1  coiled-coil domain-containing protein 74B isoform X7

      UniProtKB/TrEMBL
      A0AAG2UVR1
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:201 → 315
      CCDC74_C; Coiled coil protein 74, C terminal

    2. XM_006712834.4 → XP_006712897.1  coiled-coil domain-containing protein 74B isoform X4

      UniProtKB/TrEMBL
      A0AAG2UVY4
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:267 → 381
      CCDC74_C; Coiled coil protein 74, C terminal

    3. XM_047446281.1 → XP_047302237.1  coiled-coil domain-containing protein 74B isoform X13

    4. XM_047446278.1 → XP_047302234.1  coiled-coil domain-containing protein 74B isoform X10

    5. XM_005263842.3 → XP_005263899.1  coiled-coil domain-containing protein 74B isoform X6

      UniProtKB/TrEMBL
      A0AAG2UVR1
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:239 → 353
      CCDC74_C; Coiled coil protein 74, C terminal

    6. XM_006712835.3 → XP_006712898.1  coiled-coil domain-containing protein 74B isoform X5

      UniProtKB/TrEMBL
      A0AAG2UVR1
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:243 → 357
      CCDC74_C; Coiled coil protein 74, C terminal

    7. XM_005263840.3 → XP_005263897.1  coiled-coil domain-containing protein 74B isoform X3

      UniProtKB/TrEMBL
      A0AAG2UVY4
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:305 → 419
      CCDC74_C; Coiled coil protein 74, C terminal

    8. XM_006712833.3 → XP_006712896.1  coiled-coil domain-containing protein 74B isoform X2

      UniProtKB/TrEMBL
      A0AAG2UVY4
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:309 → 423
      CCDC74_C; Coiled coil protein 74, C terminal

    9. XM_047446279.1 → XP_047302235.1  coiled-coil domain-containing protein 74B isoform X10

    10. XM_011512142.3 → XP_011510444.1  coiled-coil domain-containing protein 74B isoform X1

      UniProtKB/TrEMBL
      B4DM14
      Conserved Domains (1) summary
      pfam14917
      Location:365 → 479
      CCDC74_C; Coiled coil protein 74, C terminal

    11. XM_047446280.1 → XP_047302236.1  coiled-coil domain-containing protein 74B isoform X11

      Related
      ENSP00000386644.1, ENST00000409128.5

    12. XM_047446277.1 → XP_047302233.1  coiled-coil domain-containing protein 74B isoform X9

    13. XM_047446276.1 → XP_047302232.1  coiled-coil domain-containing protein 74B isoform X8

    14. XM_011512147.2 → XP_011510449.1  coiled-coil domain-containing protein 74B isoform X12

      UniProtKB/TrEMBL
      H7C1C8
      Related
      ENSP00000399683.1, ENST00000457413.1
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 142
      CCDC92; Coiled-coil domain of unknown function

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791762.1 Reference GRCh38.p14 PATCHES

      Range
      315847..321672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332895.1 → XP_054188870.1  coiled-coil domain-containing protein 74B isoform X7

    2. XM_054332892.1 → XP_054188867.1  coiled-coil domain-containing protein 74B isoform X4

    3. XM_054332902.1 → XP_054188877.1  coiled-coil domain-containing protein 74B isoform X13

    4. XM_054332898.1 → XP_054188873.1  coiled-coil domain-containing protein 74B isoform X10

    5. XM_054332894.1 → XP_054188869.1  coiled-coil domain-containing protein 74B isoform X6

    6. XM_054332893.1 → XP_054188868.1  coiled-coil domain-containing protein 74B isoform X5

    7. XM_054332891.1 → XP_054188866.1  coiled-coil domain-containing protein 74B isoform X3

    8. XM_054332890.1 → XP_054188865.1  coiled-coil domain-containing protein 74B isoform X2

    9. XM_054332899.1 → XP_054188874.1  coiled-coil domain-containing protein 74B isoform X10

    10. XM_054332889.1 → XP_054188864.1  coiled-coil domain-containing protein 74B isoform X1

    11. XM_054332900.1 → XP_054188875.1  coiled-coil domain-containing protein 74B isoform X11

    12. XM_054332897.1 → XP_054188872.1  coiled-coil domain-containing protein 74B isoform X9

    13. XM_054332896.1 → XP_054188871.1  coiled-coil domain-containing protein 74B isoform X8

    14. XM_054332901.1 → XP_054188876.1  coiled-coil domain-containing protein 74B isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      130573189..130579014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344490.1 → XP_054200465.1  coiled-coil domain-containing protein 74B isoform X15

    2. XM_054344486.1 → XP_054200461.1  coiled-coil domain-containing protein 74B isoform X14

    3. XM_054344483.1 → XP_054200458.1  coiled-coil domain-containing protein 74B isoform X6

    4. XM_054344482.1 → XP_054200457.1  coiled-coil domain-containing protein 74B isoform X3

    5. XM_054344487.1 → XP_054200462.1  coiled-coil domain-containing protein 74B isoform X14

    6. XM_054344481.1 → XP_054200456.1  coiled-coil domain-containing protein 74B isoform X1

    7. XM_054344488.1 → XP_054200463.1  coiled-coil domain-containing protein 74B isoform X11

    8. XM_054344485.1 → XP_054200460.1  coiled-coil domain-containing protein 74B isoform X9

    9. XM_054344484.1 → XP_054200459.1  coiled-coil domain-containing protein 74B isoform X8

    10. XM_054344489.1 → XP_054200464.1  coiled-coil domain-containing protein 74B isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LY2.1 GenPept UniProtKB/Swiss-Prot:Q96LY2

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