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CFAP20DC CFAP20 domain containing [ Homo sapiens (human) ]

Gene ID: 200844, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP20DCprovided by HGNC
Official Full Name
CFAP20 domain containingprovided by HGNC
Primary source
HGNC:HGNC:24763
See related
Ensembl:ENSG00000163689 AllianceGenome:HGNC:24763
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
Also known as
C3orf67
Expression
Biased expression in testis (RPKM 5.2), esophagus (RPKM 1.3) and 1 other tissue See more
Orthologs
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Genomic context

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See CFAP20DC in Genome Data Viewer
Location:
3p14.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58716173..59050025, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58756584..59090440, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58727735..59035751, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20013 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:58602944-58603149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58614585-58615086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626659-58627159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58626158-58626658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58634821-58635320 Neighboring gene family with sequence similarity 107 member A Neighboring gene FAM3D antisense RNA 1 Neighboring gene uncharacterized LOC105377109 Neighboring gene FAM3 metabolism regulating signaling molecule D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58792456-58792956 Neighboring gene CFAP20DC antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58828169-58828785 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:58859831-58861030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58876285-58876824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58884619-58885120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20014 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:58940883-58941482 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:58983704-58984903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:59017398-59018230 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:59044085-59044335 Neighboring gene CFAP20DC divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:59113978-59114502 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:59114503-59115026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20016 Neighboring gene Sharpr-MPRA regulatory region 3507 Neighboring gene SNRPB2 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:59599597-59599768 Neighboring gene hCG1813818

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. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
  2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
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

  • FLJ42117, FLJ42930, MGC48416

General protein information

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Preferred Names
protein CFAP20DC
Names
uncharacterized protein C3orf67

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_001351530.2 → NP_001338459.1  protein CFAP20DC isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC104300, AC104303, AC119424
    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  2. NM_001351531.2 → NP_001338460.1  protein CFAP20DC isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC104300, AC104303, AC119424

  3. NM_001351532.2 → NP_001338461.1  protein CFAP20DC isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC104300, AC104303, AC119424

  4. NM_001351533.2 → NP_001338462.1  protein CFAP20DC isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC104300, AC104303
    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  5. NM_001351534.2 → NP_001338463.1  protein CFAP20DC isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC104300
    UniProtKB/TrEMBL
    F8WF72
    Related
    ENSP00000419028.1, ENST00000479931.5
    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  6. NM_001394063.1 → NP_001380992.1  protein CFAP20DC isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC104300, AC104303, AC119424
    Consensus CDS
    CCDS93302.1
    UniProtKB/TrEMBL
    A0A2U3TZK7
    Related
    ENSP00000417122.2, ENST00000482387.7
    Conserved Domains (1) summary
    pfam05018
    Location:1 → 183
    DUF667; Protein of unknown function (DUF667)

  7. NM_198463.4 → NP_940865.1  protein CFAP20DC isoform 3

    See identical proteins and their annotated locations for NP_940865.1

    Status: VALIDATED

    Source sequence(s)
    AA521262, AK124111, BC050317
    Consensus CDS
    CCDS33776.1
    UniProtKB/Swiss-Prot
    Q6ZVT6
    Related
    ENSP00000295966.7, ENST00000295966.11
    Conserved Domains (1) summary
    pfam05018
    Location:7 → 46
    DUF667; Protein of unknown function (DUF667)

RNA

  1. NR_147234.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050317, BC075863
    Related
    ENST00000472469.5

  2. NR_147235.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC050317, BC140002
    Related
    ENST00000491845.5

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58716173..59050025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533456.3 → XP_011531758.1  protein CFAP20DC isoform X5

    See identical proteins and their annotated locations for XP_011531758.1

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6
    Conserved Domains (1) summary
    pfam05018
    Location:7 → 46
    DUF667; Protein of unknown function (DUF667)

  2. XM_047447655.1 → XP_047303611.1  protein CFAP20DC isoform X2

  3. XM_047447656.1 → XP_047303612.1  protein CFAP20DC isoform X8

  4. XM_005264929.3 → XP_005264986.1  protein CFAP20DC isoform X1

    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  5. XM_011533459.3 → XP_011531761.1  protein CFAP20DC isoform X6

    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  6. XM_011533458.3 → XP_011531760.1  protein CFAP20DC isoform X5

    See identical proteins and their annotated locations for XP_011531760.1

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6
    Conserved Domains (1) summary
    pfam05018
    Location:7 → 46
    DUF667; Protein of unknown function (DUF667)

  7. XM_047447658.1 → XP_047303614.1  protein CFAP20DC isoform X10

  8. XM_011533457.2 → XP_011531759.1  protein CFAP20DC isoform X5

    See identical proteins and their annotated locations for XP_011531759.1

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6
    Conserved Domains (1) summary
    pfam05018
    Location:7 → 46
    DUF667; Protein of unknown function (DUF667)

  9. XM_011533460.3 → XP_011531762.1  protein CFAP20DC isoform X7

  10. XM_024453386.2 → XP_024309154.1  protein CFAP20DC isoform X10

  11. XM_047447657.1 → XP_047303613.1  protein CFAP20DC isoform X9

  12. XM_047447659.1 → XP_047303615.1  protein CFAP20DC isoform X9

  13. XM_011533455.4 → XP_011531757.1  protein CFAP20DC isoform X4

    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

  14. XM_024453385.2 → XP_024309153.1  protein CFAP20DC isoform X3

    Conserved Domains (1) summary
    pfam05018
    Location:6 → 171
    DUF667; Protein of unknown function (DUF667)

RNA

  1. XR_001740051.3 RNA Sequence

  2. XR_007095648.1 RNA Sequence

  3. XR_001740054.3 RNA Sequence

  4. XR_001740052.2 RNA Sequence

  5. XR_007095646.1 RNA Sequence

  6. XR_001740053.3 RNA Sequence

  7. XR_940389.3 RNA Sequence

  8. XR_940388.3 RNA Sequence

  9. XR_940390.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58756584..59090440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345607.1 → XP_054201582.1  protein CFAP20DC isoform X5

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6

  2. XM_054345604.1 → XP_054201579.1  protein CFAP20DC isoform X2

  3. XM_054345612.1 → XP_054201587.1  protein CFAP20DC isoform X8

  4. XM_054345603.1 → XP_054201578.1  protein CFAP20DC isoform X1

  5. XM_054345610.1 → XP_054201585.1  protein CFAP20DC isoform X6

  6. XM_054345609.1 → XP_054201584.1  protein CFAP20DC isoform X5

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6

  7. XM_054345614.1 → XP_054201589.1  protein CFAP20DC isoform X10

  8. XM_054345608.1 → XP_054201583.1  protein CFAP20DC isoform X5

    UniProtKB/Swiss-Prot
    B9EKV6, Q6ZV69, Q6ZVT6

  9. XM_054345611.1 → XP_054201586.1  protein CFAP20DC isoform X7

  10. XM_054345615.1 → XP_054201590.1  protein CFAP20DC isoform X10

  11. XM_054345613.1 → XP_054201588.1  protein CFAP20DC isoform X9

  12. XM_054345616.1 → XP_054201591.1  protein CFAP20DC isoform X9

  13. XM_054345606.1 → XP_054201581.1  protein CFAP20DC isoform X4

  14. XM_054345605.1 → XP_054201580.1  protein CFAP20DC isoform X3

RNA

  1. XR_008486670.1 RNA Sequence

  2. XR_008486675.1 RNA Sequence

  3. XR_008486673.1 RNA Sequence

  4. XR_008486669.1 RNA Sequence

  5. XR_008486674.1 RNA Sequence

  6. XR_008486671.1 RNA Sequence

  7. XR_008486672.1 RNA Sequence

  8. XR_008486668.1 RNA Sequence

  9. XR_008486676.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZVT6.2 GenPept UniProtKB/Swiss-Prot:Q6ZVT6

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