CFAP73 cilia and flagella associated protein 73 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP73provided by HGNC
Official Full Name: cilia and flagella associated protein 73provided by HGNC
Primary source: HGNC:HGNC:37100
See related: Ensembl:ENSG00000186710 AllianceGenome:HGNC:37100
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: MIA2; CCDC42B
Summary: Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and spermatid development. Predicted to be located in axonemal doublet microtubule and motile cilium. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in lung (RPKM 3.5), kidney (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (113149724..113159276)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (113126368..113135920)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (113587529..113597081)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

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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)

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General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein complex binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axonemal doublet microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 73

Names: coiled-coil domain containing 42B; coiled-coil domain-containing protein 42B

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.