Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	392509
Gene name	ARF like GTPase 13A
Gene symbol	ARL13A
Synonyms (NCBI Gene)	ARL13dJ341D10.2
Chromosome	X
Chromosome location	Xq22.1

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments
MIRT797518	hsa-miR-4639-3p	CLIP-seq
MIRT797519	hsa-miR-4778-3p	CLIP-seq
MIRT797520	hsa-miR-526b	CLIP-seq
MIRT1935530	hsa-miR-4446-5p	CLIP-seq
MIRT1935531	hsa-miR-4753-3p	CLIP-seq
MIRT1935532	hsa-miR-4755-5p	CLIP-seq
MIRT1935533	hsa-miR-4768-5p	CLIP-seq
MIRT1935534	hsa-miR-642a	CLIP-seq
MIRT1935535	hsa-miR-659	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005929	Component	Cilium	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0060170	Component	Ciliary membrane	IBA
GO:0097500	Process	Receptor localization to non-motile cilium	IBA
GO:0097730	Component	Non-motile cilium	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

MIM	HGNC	e!Ensembl
301144	31709	ENSG00000174225

Q5H913

Protein name

ADP-ribosylation factor-like protein 13A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00025	Arf	8 → 190	ADP-ribosylation factor family	Domain

Sequence

MFRLLSSCCSCLRTTEETRRNVTIPIIGLNNSGKTVLVEAFQKLLPSKTDHCMKSELTTL
LLDEYELSIYDLNGDLKGREAWPNYYAQAHGLVFVLDSSDIRRMQEVKIILTHLLSDKRV
AGKPILILANKQDKKKALMPCDIIDYLLLKKLVKENKCPCRVEPCSAIRNLERRNHQPIV
EGLRWLLAVIDTCQLPPTSSISISKNNTGSGERCSSHSFSTRTGMSKEKRQHLEQCSIEA
KPLKSILQKEGTRLWSKKNMSVTFALDEPMKEGECSRRMRAQNTTKLCYN

Sequence length

290

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ciliopathies	Ciliopathies	BEFREE	24339792	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24339792, 30009987	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	24339792	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARL13A (ARF like GTPase 13A)