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

Gene ID: 91409, updated on 3-Apr-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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Location:
2q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130139287..130145112, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130573189..130579014, complement)
105.20220307 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
  • 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (9) 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

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/Swiss-Prot
    Q96LY2
    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
    F1SW65
    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_2023_10

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

    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
    F1SW65
    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
    F1SW65
    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
    F1SW65
    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
    F1SW65
    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
    F1SW65
    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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