DNAAF9 dynein axonemal assembly factor 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAAF9provided by HGNC
Official Full Name: dynein axonemal assembly factor 9provided by HGNC
Primary source: HGNC:HGNC:17721
See related: Ensembl:ENSG00000088854 MIM:614146; AllianceGenome:HGNC:17721
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: C20orf194
Summary: This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in brain (RPKM 9.9), testis (RPKM 8.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3249306..3407669, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3280252..3438588, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3229952..3388316, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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

EBI GWAS Catalog

Description
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S193 (e-PCR), detects polymorphism
- UniSTS:47912

SHGC-151132 (e-PCR)
- UniSTS:173363

D20S596E (e-PCR)
- UniSTS:57142

Z94365 (e-PCR)
- UniSTS:79180

IB607 (e-PCR)
- UniSTS:75350

G60065 (e-PCR)
- UniSTS:137326

RH18304 (e-PCR)
- UniSTS:46224

G06884 (e-PCR)
- UniSTS:80023

WI-18442 (e-PCR)
- UniSTS:152

RH98248 (e-PCR)
- UniSTS:86216

SHGC-144481 (e-PCR)
- UniSTS:183504

A002R43 (e-PCR)
- UniSTS:60901

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 biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: dynein axonemal assembly factor 9

Names: shulin; uncharacterized protein C20orf194

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.