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CFAP299 cilia and flagella associated protein 299 [ Homo sapiens (human) ]

Gene ID: 255119, updated on 5-Aug-2022

Summary

Official Symbol
CFAP299provided by HGNC
Official Full Name
cilia and flagella associated protein 299provided by HGNC
Primary source
HGNC:HGNC:28554
See related
Ensembl:ENSG00000197826 AllianceGenome:HGNC:28554
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
C4orf22
Summary
Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 1.7) See more
Orthologs
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Genomic context

See CFAP299 in Genome Data Viewer
Location:
4q21.21
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (80321265..80963750)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (83666155..84293773)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81256884..81884904)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900725 Neighboring gene fibroblast growth factor 5 Neighboring gene mitochondrial ribosomal protein S25 pseudogene 1 Neighboring gene zinc finger protein 341 pseudogene Neighboring gene uncharacterized LOC105377305 Neighboring gene bone morphogenetic protein 3 Neighboring gene protein kinase cGMP-dependent 2 Neighboring gene PRKG2 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 299
Names
uncharacterized protein C4orf22

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_001206997.2NP_001193926.1  cilia- and flagella-associated protein 299 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093876, AI650567, AY349359, BC034296, DB522959
    Consensus CDS
    CCDS56336.1
    UniProtKB/Swiss-Prot
    Q6V702
    Related
    ENSP00000425786.1, ENST00000508675.1
    Conserved Domains (1) summary
    pfam14713
    Location:13249
    DUF4464; Domain of unknown function (DUF4464)
  2. NM_152770.3NP_689983.2  cilia- and flagella-associated protein 299 isoform 2

    See identical proteins and their annotated locations for NP_689983.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AI650567, BC034296, DB522959
    Consensus CDS
    CCDS3587.1
    UniProtKB/Swiss-Prot
    Q6V702, Q8N4G9
    Related
    ENSP00000350818.3, ENST00000358105.8
    Conserved Domains (1) summary
    pfam14713
    Location:13232
    DUF4464; Domain of unknown function (DUF4464)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    80321265..80963750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007976.2XP_016863465.1  cilia- and flagella-associated protein 299 isoform X3

    Conserved Domains (1) summary
    pfam14713
    Location:31129
    DUF4464; Domain of unknown function (DUF4464)
  2. XM_047449975.1XP_047305931.1  cilia- and flagella-associated protein 299 isoform X1

  3. XM_017007977.2XP_016863466.1  cilia- and flagella-associated protein 299 isoform X5

    Conserved Domains (1) summary
    pfam14713
    Location:31131
    DUF4464; Domain of unknown function (DUF4464)
  4. XM_011531816.3XP_011530118.2  cilia- and flagella-associated protein 299 isoform X6

    Conserved Domains (1) summary
    pfam14713
    Location:31129
    DUF4464; Domain of unknown function (DUF4464)
  5. XM_047449977.1XP_047305933.1  cilia- and flagella-associated protein 299 isoform X4

  6. XM_047449976.1XP_047305932.1  cilia- and flagella-associated protein 299 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    83666155..84293773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)