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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	259173
Gene name Gene Name - the full gene name approved by the HGNC.	ALS2 C-terminal like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALS2CL
Synonyms (NCBI Gene) Gene synonyms aliases	RN49018
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31

Show/Hide all(106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT489638	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT489637	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT489636	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT489635	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT489634	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT489633	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT489632	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT489630	hsa-miR-1973	PAR-CLIP	23592263
MIRT489631	hsa-miR-4419a	PAR-CLIP	23592263
MIRT489629	hsa-miR-4510	PAR-CLIP	23592263
MIRT489628	hsa-miR-6127	PAR-CLIP	23592263
MIRT489627	hsa-miR-6129	PAR-CLIP	23592263
MIRT489626	hsa-miR-6130	PAR-CLIP	23592263
MIRT489625	hsa-miR-6133	PAR-CLIP	23592263
MIRT489624	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT489623	hsa-miR-6879-3p	PAR-CLIP	23592263
MIRT489638	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT489637	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT489636	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT489635	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT489634	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT489633	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT489632	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT489630	hsa-miR-1973	PAR-CLIP	23592263
MIRT489631	hsa-miR-4419a	PAR-CLIP	23592263
MIRT489629	hsa-miR-4510	PAR-CLIP	23592263
MIRT489628	hsa-miR-6127	PAR-CLIP	23592263
MIRT489627	hsa-miR-6129	PAR-CLIP	23592263
MIRT489626	hsa-miR-6130	PAR-CLIP	23592263
MIRT489625	hsa-miR-6133	PAR-CLIP	23592263
MIRT489624	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT489623	hsa-miR-6879-3p	PAR-CLIP	23592263
MIRT779243	hsa-miR-125a-3p	CLIP-seq
MIRT779244	hsa-miR-1470	CLIP-seq
MIRT779245	hsa-miR-3150a-5p	CLIP-seq
MIRT779246	hsa-miR-3150b-5p	CLIP-seq
MIRT779247	hsa-miR-3652	CLIP-seq
MIRT779248	hsa-miR-3919	CLIP-seq
MIRT779249	hsa-miR-3934	CLIP-seq
MIRT779250	hsa-miR-4430	CLIP-seq
MIRT779251	hsa-miR-4474-3p	CLIP-seq
MIRT779252	hsa-miR-4505	CLIP-seq
MIRT779253	hsa-miR-4667-3p	CLIP-seq
MIRT779254	hsa-miR-4755-3p	CLIP-seq
MIRT779255	hsa-miR-4772-3p	CLIP-seq
MIRT779256	hsa-miR-510	CLIP-seq
MIRT779257	hsa-miR-539	CLIP-seq
MIRT779258	hsa-miR-551a	CLIP-seq
MIRT779259	hsa-miR-551b	CLIP-seq
MIRT779260	hsa-miR-572	CLIP-seq
MIRT779261	hsa-miR-626	CLIP-seq
MIRT779262	hsa-miR-644	CLIP-seq
MIRT779263	hsa-miR-764	CLIP-seq
MIRT779264	hsa-miR-1182	CLIP-seq
MIRT779265	hsa-miR-140-3p	CLIP-seq
MIRT779266	hsa-miR-142-5p	CLIP-seq
MIRT779267	hsa-miR-150	CLIP-seq
MIRT779268	hsa-miR-329	CLIP-seq
MIRT779269	hsa-miR-362-3p	CLIP-seq
MIRT779270	hsa-miR-3649	CLIP-seq
MIRT779271	hsa-miR-3674	CLIP-seq
MIRT779272	hsa-miR-4269	CLIP-seq
MIRT779273	hsa-miR-4423-5p	CLIP-seq
MIRT779274	hsa-miR-4732-5p	CLIP-seq
MIRT779275	hsa-miR-4781-3p	CLIP-seq
MIRT1930018	hsa-miR-1224-3p	CLIP-seq
MIRT1930019	hsa-miR-1260	CLIP-seq
MIRT1930020	hsa-miR-1260b	CLIP-seq
MIRT1930021	hsa-miR-1280	CLIP-seq
MIRT779266	hsa-miR-142-5p	CLIP-seq
MIRT779267	hsa-miR-150	CLIP-seq
MIRT1930022	hsa-miR-188-3p	CLIP-seq
MIRT1930023	hsa-miR-3156-3p	CLIP-seq
MIRT1930024	hsa-miR-4722-3p	CLIP-seq
MIRT1930025	hsa-miR-4740-3p	CLIP-seq
MIRT779264	hsa-miR-1182	CLIP-seq
MIRT1930018	hsa-miR-1224-3p	CLIP-seq
MIRT1930019	hsa-miR-1260	CLIP-seq
MIRT1930020	hsa-miR-1260b	CLIP-seq
MIRT1930021	hsa-miR-1280	CLIP-seq
MIRT779266	hsa-miR-142-5p	CLIP-seq
MIRT779267	hsa-miR-150	CLIP-seq
MIRT1930022	hsa-miR-188-3p	CLIP-seq
MIRT2170800	hsa-miR-1914	CLIP-seq
MIRT2170801	hsa-miR-19a	CLIP-seq
MIRT2170802	hsa-miR-19b	CLIP-seq
MIRT1930023	hsa-miR-3156-3p	CLIP-seq
MIRT2170803	hsa-miR-335	CLIP-seq
MIRT779270	hsa-miR-3649	CLIP-seq
MIRT2170804	hsa-miR-4279	CLIP-seq
MIRT779273	hsa-miR-4423-5p	CLIP-seq
MIRT2170805	hsa-miR-4691-5p	CLIP-seq
MIRT2170806	hsa-miR-4698	CLIP-seq
MIRT1930025	hsa-miR-4740-3p	CLIP-seq
MIRT779275	hsa-miR-4781-3p	CLIP-seq
MIRT779266	hsa-miR-142-5p	CLIP-seq
MIRT779267	hsa-miR-150	CLIP-seq
MIRT779266	hsa-miR-142-5p	CLIP-seq
MIRT779267	hsa-miR-150	CLIP-seq
MIRT2443598	hsa-miR-4469	CLIP-seq
MIRT2473464	hsa-miR-1343	CLIP-seq
MIRT2473465	hsa-miR-3127-3p	CLIP-seq
MIRT2473466	hsa-miR-3667-3p	CLIP-seq
MIRT2473467	hsa-miR-4277	CLIP-seq
MIRT2473468	hsa-miR-4640-3p	CLIP-seq
MIRT2473469	hsa-miR-637	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016197	Process	Endosomal transport	IBA
GO:0031267	Function	Small GTPase binding	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA

MIM	HGNC	e!Ensembl
612402	20605	ENSG00000178038

Protein

UniProt ID

Q60I27

Protein name

ALS2 C-terminal-like protein

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02493	MORN	358 → 378	MORN repeat	Repeat
PF02493	MORN	409 → 430	MORN repeat	Repeat
PF02493	MORN	432 → 450	MORN repeat	Repeat
PF02493	MORN	459 → 480	MORN repeat	Repeat
PF02493	MORN	483 → 503	MORN repeat	Repeat
PF02493	MORN	506 → 527	MORN repeat	Repeat
PF02204	VPS9	834 → 938	Vacuolar sorting protein 9 (VPS9) domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart and kidney. {ECO:0000269|PubMed:15388334}.

Sequence

MCNPEEAALLRLEEVFSATLAHVNSLVLQPLLPAAPDPSDPWGRECLRLLQQLHKSSQQL
WEVTEESLHSLQERLRYPDSTGLESLLLLRGADRVLQAHIEYIESYTSCMVVQAFQKAAK
RRSEYWRGQRKALRQLLSGVSSEGSVGASLGQALHQPLAHHVQQYVLLLLSLGDTIGEHH
PTRELVVNAVTLFGNLQSFMKQELDQAVATQALWHTLRGRLRDVLCTPAHRLLQDSQDVP
VTVAPLRAERVLLFDDALVLLQGHNVHTFDLKLVWVDPGQDGCTFHLLTPEEEFSFCAKD
SQGQAVWQWKVTWAVHQALHGKKDFPVLGAGLEPSQPPDCRCAEYTFQAEGRLCQATYEG
EWCRGRPHGKGTLKWPDGRNHVGNFCQGLEHGFGIRLLPQASEDKFDCYKCHWREGSMCG
YGICEYSTDEVYKGYFQEGLRHGFGVLESGPQAPQPFRYTGHWERGQRSGYGIEEDGDRG
ERYIGMWQAGQRHGPGVMVTQAGVCYQGTFQADKTVGPGILLSEDDSLYEGTFTRDLTLM
GKGKVTFPNGFTLEGSFGSGAGRGLHTQGVLDTAALPPDPSSTCKRQLGVGAFPVESRWQ
GVYSPFRDFVCAGCPRDLQEALLGFDVQSSRELRRSQDYLSCERTHPEDSVGSMEDILEE
LLQHREPKALQLYLRKALSNSLHPLGKLLRTLMLTFQATYAGVGANKHLQELAQEEVKQH
AQELWAAYRGLLRVALERKGQALEEDEDTETRDLQVHGLVLPLMLPSFYSELFTLYLLLH
EREDSFYSQGIANLSLFPDTQLLEFLDVQKHLWPLKDLTLTSNQRYSLVRDKCFLSATEC
LQKIMTTVDPREKLEVLERTYGEIEGTVSRVLGREYKLPMDDLLPLLIYVVSRARIQHLG
AEIHLIRDMMDPNHTGGLYDFLLTALESCYEHIQKEDMRLHRLPGHWHSRELW

Sequence length

953

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinogenesis	Inhibit	20657180
Neoplasms	Inhibit	20657180
Prostatic Neoplasms	Associate	37924098
Schizophrenia	Associate	34323598
Squamous Cell Carcinoma of Head and Neck	Associate	20657180

ALS2CL (ALS2 C-terminal like)