ALS2CL (ALS2 C-terminal like)

Gene

• Entrez ID: 259173
• Gene name: ALS2 C-terminal like
• Gene symbol: ALS2CL
• Synonyms: RN49018
• Chromosome: 3
• Chromosome location: 3p21.31

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	TAS
GO:0007032	Process	Endosome organization	IGI	17239822
GO:0042802	Function	Identical protein binding	IPI	17239822
GO:0043547	Process	Positive regulation of GTPase activity	IEA

Other IDs

• MIM: 612402
• HGNC: 20605
• e!Ensembl: 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

• Sequence:

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

• Sequence length: 953

Pathways

Reactome:

RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21743468