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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
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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

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