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    CFAP92 cilia and flagella associated protein 92 (putative) [ Homo sapiens (human) ]

    Gene ID: 57501, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CFAP92provided by HGNC
    Official Full Name
    cilia and flagella associated protein 92 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:29231
    See related
    Ensembl:ENSG00000114656 AllianceGenome:HGNC:29231
    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
    FAP92; KIAA1257
    Expression
    Broad expression in testis (RPKM 2.9), skin (RPKM 2.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP92 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (128909873..129026748, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131654595..131771396, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128628716..128722845, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128583050-128583876 Neighboring gene IFT122 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:128597333-128598184 and GRCh37_chr3:128598185-128599037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128599038-128599889 Neighboring gene ACAD9 divergent transcript Neighboring gene acyl-CoA dehydrogenase family member 9 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:128620937-128622136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128651057-128651558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128653559-128654060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128654061-128654560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128682980-128683974 Neighboring gene MPRA-validated peak4825 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:128705779-128706978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128711587-128712348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128734769-128735276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128735847-128736348 Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128752375-128752929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128756987-128757962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128757963-128758936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20502 Neighboring gene JMJD4 pseudogene 1 Neighboring gene glycoprotein IX platelet

    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. Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies. Sakai N, et al. J Endocrinol, 2008 Sep. PMID 18579725
    2. GWAS of dental caries patterns in the permanent dentition. Shaffer JR, et al. J Dent Res, 2013 Jan. PMID 23064961, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
    4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
    5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

    See all (9) 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.
    2. The gain of function studies indicated that KIAA1257 activate NR5A1 gene expression.
      Title: Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.
    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

    • FLJ31815, FLJ43738

    General protein information

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    Preferred Names
    uncharacterized protein CFAP92
    Names
    putative cilia and flagella associated protein 92

    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_001348520.2 → NP_001335449.1  uncharacterized protein CFAP92 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC112484

    2. NM_001348521.2 → NP_001335450.1  uncharacterized protein CFAP92 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC112484

    3. NM_001348522.2 → NP_001335451.1  uncharacterized protein CFAP92 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 5, encodes isoform d.
      Source sequence(s)
      AC112484
      Consensus CDS
      CCDS87133.1
      UniProtKB/Swiss-Prot
      Q9ULG3
      Conserved Domains (1) summary
      pfam15084
      Location:3 → 96
      DUF4550; Domain of unknown function (DUF4550)

    4. NM_001348523.2 → NP_001335452.1  uncharacterized protein CFAP92 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform d.
      Source sequence(s)
      AC112484, BC031632
      Consensus CDS
      CCDS87133.1
      UniProtKB/Swiss-Prot
      Q9ULG3
      Related
      ENSP00000422539.1, ENST00000515659.1
      Conserved Domains (1) summary
      pfam15084
      Location:3 → 96
      DUF4550; Domain of unknown function (DUF4550)

    5. NM_001394090.1 → NP_001381019.1  uncharacterized protein CFAP92 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC112484
      Consensus CDS
      CCDS93370.1
      UniProtKB/TrEMBL
      A0A2R8YFM9
      Related
      ENSP00000496592.2, ENST00000645291.3

    6. NM_020741.3 → NP_065792.1  uncharacterized protein CFAP92 isoform c

      See identical proteins and their annotated locations for NP_065792.1

      Status: VALIDATED

      Source sequence(s)
      AC112484, BC038736
      Consensus CDS
      CCDS46905.1
      UniProtKB/Swiss-Prot
      Q8IXY7, Q8N5T4, Q9ULG3
      UniProtKB/TrEMBL
      D6RH05
      Related
      ENSP00000265068.5, ENST00000265068.9
      Conserved Domains (1) summary
      pfam15084
      Location:115 → 208
      DUF4550; Domain of unknown function (DUF4550)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      128909873..129026748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006945.2 → XP_016862434.1  uncharacterized protein CFAP92 isoform X3

    2. XM_011513050.3 → XP_011511352.2  uncharacterized protein CFAP92 isoform X2

    3. XM_047448638.1 → XP_047304594.1  uncharacterized protein CFAP92 isoform X4

    4. XM_047448639.1 → XP_047304595.1  uncharacterized protein CFAP92 isoform X5

    5. XM_047448637.1 → XP_047304593.1  uncharacterized protein CFAP92 isoform X1

    6. XM_047448640.1 → XP_047304596.1  uncharacterized protein CFAP92 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      131654595..131771396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347391.1 → XP_054203366.1  uncharacterized protein CFAP92 isoform X3

    2. XM_054347390.1 → XP_054203365.1  uncharacterized protein CFAP92 isoform X2

    3. XM_054347392.1 → XP_054203367.1  uncharacterized protein CFAP92 isoform X4

    4. XM_054347389.1 → XP_054203364.1  uncharacterized protein CFAP92 isoform X1

    5. XM_054347393.1 → XP_054203368.1  uncharacterized protein CFAP92 isoform X5

    6. XM_054347394.1 → XP_054203369.1  uncharacterized protein CFAP92 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUG5.1 GenPept UniProtKB/Swiss-Prot:Q6ZUG5
    Q9ULG3.2 GenPept UniProtKB/Swiss-Prot:Q9ULG3

    Gene LinkOut

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

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