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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79074
Gene name	Chromosome 2 open reading frame 49
Gene symbol	C2orf49
Synonyms (NCBI Gene)	asw
Chromosome	2
Chromosome location	2q12.2

160

Show/Hide all (160)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026435	hsa-miR-192-5p	Microarray	19074876
MIRT519136	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519134	hsa-miR-600	HITS-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	HITS-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	HITS-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT519136	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519134	hsa-miR-600	HITS-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	HITS-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	HITS-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT519136	hsa-miR-6796-3p	PAR-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT519134	hsa-miR-600	PAR-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT519151	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT519150	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT519149	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT519148	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT519147	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519146	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519145	hsa-miR-4252	PAR-CLIP	23446348
MIRT519144	hsa-miR-668-5p	PAR-CLIP	23446348
MIRT519143	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519142	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT519141	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT519140	hsa-miR-3926	PAR-CLIP	23446348
MIRT519139	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519138	hsa-miR-548s	PAR-CLIP	23446348
MIRT519137	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT519136	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT519135	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT519134	hsa-miR-600	PAR-CLIP	23446348
MIRT519133	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT519132	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT519136	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519134	hsa-miR-600	HITS-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	HITS-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	HITS-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT519136	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519134	hsa-miR-600	HITS-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	HITS-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	HITS-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT510130	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT510132	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT519136	hsa-miR-6796-3p	PAR-CLIP	21572407
MIRT519135	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT519134	hsa-miR-600	PAR-CLIP	21572407
MIRT519133	hsa-miR-3928-5p	PAR-CLIP	21572407
MIRT519132	hsa-miR-6806-3p	PAR-CLIP	21572407
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT519151	hsa-miR-3186-5p	PAR-CLIP	23446348
MIRT519150	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT519149	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT519148	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT519147	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519146	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519145	hsa-miR-4252	PAR-CLIP	23446348
MIRT519144	hsa-miR-668-5p	PAR-CLIP	23446348
MIRT519143	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519142	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT519141	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT519140	hsa-miR-3926	PAR-CLIP	23446348
MIRT519139	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519138	hsa-miR-548s	PAR-CLIP	23446348
MIRT519137	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT519136	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT519135	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT519134	hsa-miR-600	PAR-CLIP	23446348
MIRT519133	hsa-miR-3928-5p	PAR-CLIP	23446348
MIRT519132	hsa-miR-6806-3p	PAR-CLIP	23446348
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT510132	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT510131	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT510130	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT845892	hsa-miR-101	CLIP-seq
MIRT845893	hsa-miR-139-5p	CLIP-seq
MIRT845894	hsa-miR-144	CLIP-seq
MIRT845895	hsa-miR-3607-3p	CLIP-seq
MIRT845896	hsa-miR-3686	CLIP-seq
MIRT845897	hsa-miR-4652-3p	CLIP-seq
MIRT845898	hsa-miR-548ae	CLIP-seq
MIRT845899	hsa-miR-548aj	CLIP-seq
MIRT845900	hsa-miR-548am	CLIP-seq
MIRT845901	hsa-miR-548x	CLIP-seq
MIRT845902	hsa-miR-582-5p	CLIP-seq
MIRT845903	hsa-miR-935	CLIP-seq
MIRT2492650	hsa-miR-3167	CLIP-seq
MIRT845895	hsa-miR-3607-3p	CLIP-seq
MIRT2492651	hsa-miR-3647-3p	CLIP-seq
MIRT2492652	hsa-miR-3653	CLIP-seq
MIRT2492653	hsa-miR-3658	CLIP-seq
MIRT845896	hsa-miR-3686	CLIP-seq
MIRT2492654	hsa-miR-3692	CLIP-seq
MIRT845897	hsa-miR-4652-3p	CLIP-seq
MIRT845898	hsa-miR-548ae	CLIP-seq
MIRT845899	hsa-miR-548aj	CLIP-seq
MIRT845900	hsa-miR-548am	CLIP-seq
MIRT845901	hsa-miR-548x	CLIP-seq
MIRT2492655	hsa-miR-876-5p	CLIP-seq
MIRT845893	hsa-miR-139-5p	CLIP-seq
MIRT2492650	hsa-miR-3167	CLIP-seq
MIRT845895	hsa-miR-3607-3p	CLIP-seq
MIRT2492651	hsa-miR-3647-3p	CLIP-seq
MIRT2492652	hsa-miR-3653	CLIP-seq
MIRT2492653	hsa-miR-3658	CLIP-seq
MIRT845896	hsa-miR-3686	CLIP-seq
MIRT2492654	hsa-miR-3692	CLIP-seq
MIRT845897	hsa-miR-4652-3p	CLIP-seq
MIRT845898	hsa-miR-548ae	CLIP-seq
MIRT845899	hsa-miR-548aj	CLIP-seq
MIRT845900	hsa-miR-548am	CLIP-seq
MIRT845901	hsa-miR-548x	CLIP-seq
MIRT845902	hsa-miR-582-5p	CLIP-seq
MIRT2492655	hsa-miR-876-5p	CLIP-seq
MIRT845903	hsa-miR-935	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30021884, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	18445686
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21311021
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	NAS	21311021
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	NAS	24870230
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0072669	Component	TRNA-splicing ligase complex	IBA
GO:0072669	Component	TRNA-splicing ligase complex	IDA	21311021, 24870230
GO:0072669	Component	TRNA-splicing ligase complex	IEA
GO:0072669	Component	TRNA-splicing ligase complex	NAS	24870230

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9BVC5

Protein name

Ashwin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15323	Ashwin	13 → 232	Developmental protein	Family

Sequence

MAGDVGGRSCTDSELLLHPELLSQEFLLLTLEQKNIAVETDVRVNKDSLTDLYVQHAIPL
PQRDLPKNRWGKMMEKKREQHEIKNETKRSSTVDGLRKRPLIVFDGSSTSTSIKVKKTEN
GDNDRLKPPPQASFTSNAFRKLSNSSSSVSPLILSSNLPVNNKTEHNNNDAKQNHDLTHR
KSPSGPVKSPPLSPVGTTPVKLKRAAPKEEAEAMNNLKPPQAKRKIQHVTWP

Sequence length

232

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus

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 (7)

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.
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Dermatitis, Atopic	Dermatitis	BEFREE	29791750	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29791750	★★★★★ ★☆☆☆☆ Found in Text Mining only

C2orf49 (chromosome 2 open reading frame 49)