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CFAP418 cilia and flagella associated protein 418 [ Homo sapiens (human) ]

Gene ID: 157657, updated on 11-Jun-2021

Summary

Official Symbol
CFAP418provided by HGNC
Official Full Name
cilia and flagella associated protein 418provided by HGNC
Primary source
HGNC:HGNC:27232
See related
Ensembl:ENSG00000156172 MIM:614477
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP64; BBS21; MOT25; CORD16; FAP418; C8orf37; smalltalk
Summary
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in ovary (RPKM 1.7), brain (RPKM 1.3) and 25 other tissues See more
Orthologs
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Genomic context

See CFAP418 in Genome Data Viewer
Location:
8q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (95244913..95269201, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96257141..96281429, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene long intergenic non-protein coding RNA 1298 Neighboring gene CFAP418 antisense RNA 1 Neighboring gene tRNA-Ser (anticodon AGA) 2-5 Neighboring gene RNA, U6 small nuclear 690, pseudogene

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

Associated conditions

Description Tests
Bardet-Biedl syndrome 21
MedGen: C4319932 OMIM: 617406 GeneReviews: Not available
Compare labs
Cone-rod dystrophy 16 Compare labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Retinitis pigmentosa Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in photoreceptor cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein C8orf37
Names
Bardet-Biedl syndrome 21

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.

Genomic

  1. NG_032804.1 RefSeqGene

    Range
    5034..29322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363260.1NP_001350189.1  protein C8orf37 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AA897574, AP003466, DA473498, DB205618
    Conserved Domains (1) summary
    pfam14996
    Location:63175
    RMP; Retinal Maintenance
  2. NM_177965.4NP_808880.1  protein C8orf37 isoform 1

    See identical proteins and their annotated locations for NP_808880.1

    Status: REVIEWED

    Source sequence(s)
    AA897574, AP003466, DA473498, DB205618
    Consensus CDS
    CCDS6268.1
    UniProtKB/Swiss-Prot
    Q96NL8
    Related
    ENSP00000286688.5, ENST00000286688.6
    Conserved Domains (1) summary
    pfam14996
    Location:63207
    RMP; Retinal Maintenance

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    95244913..95269201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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