GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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RAB28 (RAB28, member RAS oncogene family)

Gene

9364

RAB28, member RAS oncogene family

RAB28

CORD18

4p15.33

This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398123044	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained, synonymous variant
rs751163782	A>C,G	Pathogenic	Missense variant, synonymous variant, intron variant, coding sequence variant
rs786200944	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs875989778	C>G	Pathogenic	Splice donor variant
rs1560141393	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004181	hsa-miR-197-3p	Microarray	16822819
MIRT019946	hsa-miR-375	Microarray	20215506
MIRT1283148	hsa-miR-1270	CLIP-seq
MIRT1283149	hsa-miR-1279	CLIP-seq
MIRT1283150	hsa-miR-185	CLIP-seq
MIRT1283151	hsa-miR-3614-3p	CLIP-seq
MIRT1283152	hsa-miR-3680	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT1283157	hsa-miR-450b-5p	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT1283160	hsa-miR-4798-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT1283162	hsa-miR-507	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT1283164	hsa-miR-557	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq
MIRT1283167	hsa-miR-935	CLIP-seq
MIRT2083931	hsa-miR-186	CLIP-seq
MIRT2083931	hsa-miR-186	CLIP-seq
MIRT2309227	hsa-miR-3179	CLIP-seq
MIRT2309228	hsa-miR-4257	CLIP-seq
MIRT2309229	hsa-miR-4325	CLIP-seq
MIRT2309230	hsa-miR-4436b-3p	CLIP-seq
MIRT2309231	hsa-miR-4714-5p	CLIP-seq
MIRT1283162	hsa-miR-507	CLIP-seq
MIRT2309232	hsa-miR-520d-5p	CLIP-seq
MIRT2309233	hsa-miR-524-5p	CLIP-seq
MIRT1283164	hsa-miR-557	CLIP-seq
MIRT2432396	hsa-miR-1207-3p	CLIP-seq
MIRT2432397	hsa-miR-361-5p	CLIP-seq
MIRT2432398	hsa-miR-4711-5p	CLIP-seq
MIRT2432399	hsa-miR-4729	CLIP-seq
MIRT1283148	hsa-miR-1270	CLIP-seq
MIRT1283149	hsa-miR-1279	CLIP-seq
MIRT1283150	hsa-miR-185	CLIP-seq
MIRT2605943	hsa-miR-302f	CLIP-seq
MIRT2605944	hsa-miR-3064-5p	CLIP-seq
MIRT2605945	hsa-miR-3682-3p	CLIP-seq
MIRT2605946	hsa-miR-3688-5p	CLIP-seq
MIRT2605947	hsa-miR-4282	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT2605948	hsa-miR-4470	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT2605949	hsa-miR-4502	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT2605950	hsa-miR-4668-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT2605951	hsa-miR-499-3p	CLIP-seq
MIRT2605952	hsa-miR-499a-3p	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT2309232	hsa-miR-520d-5p	CLIP-seq
MIRT2309233	hsa-miR-524-5p	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq
MIRT1283148	hsa-miR-1270	CLIP-seq
MIRT1283149	hsa-miR-1279	CLIP-seq
MIRT1283150	hsa-miR-185	CLIP-seq
MIRT2605943	hsa-miR-302f	CLIP-seq
MIRT2605944	hsa-miR-3064-5p	CLIP-seq
MIRT2605945	hsa-miR-3682-3p	CLIP-seq
MIRT2605946	hsa-miR-3688-5p	CLIP-seq
MIRT2605947	hsa-miR-4282	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT2605948	hsa-miR-4470	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT2605949	hsa-miR-4502	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT2605950	hsa-miR-4668-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT2605951	hsa-miR-499-3p	CLIP-seq
MIRT2605952	hsa-miR-499a-3p	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IDA	19026641
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0012505	Component	Endomembrane system	IBA	21873635
GO:0019003	Function	GDP binding	IDA	19026641, 20937701
GO:0035253	Component	Ciliary rootlet	ISS
GO:0036064	Component	Ciliary basal body	ISS
GO:1901998	Process	Toxin transport	IEA

MIM	HGNC	e!Ensembl
612994	9768	ENSG00000157869

Protein

UniProt ID

P51157

Protein name

Ras-related protein Rab-28 (EC 3.6.5.2)

Protein function

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:8647132). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form

PDB

2HXS , 3E5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	14 → 179	Ras family	Domain

Sequence

MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQTIGLDFFLRRITLPGNL
NVTLQIWDIGGQTIGGKMLDKYIYGAQGVLLVYDITNYQSFENLEDWYTVVKKVSEESET
QPLVALVGNKIDLEHMRTIKPEKHLRFCQENGFSSHFVSAKTGDSVFLCFQKVAAEILGI
KLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMCAVQ

Sequence length

221

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Cone dystrophy	Cone Dystrophy	rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709, rs139027297, rs140451304, rs1238632042, rs117522010, rs1023522305, rs531851447, rs1271498710, rs1554186441, rs757622521, rs1028838062, rs1568725951, rs1564801134, rs1557918619, rs1582323732, rs1589705946, rs1589693002, rs1659954489, rs1660447204, rs1660845802, rs1692799480, rs1800113541, rs138924201, rs748084580, rs1883036406, rs1905007623, rs1589690942, rs1589704707, rs1768016995	25356532, 23746546
Cone-rod dystrophy	Cone-Rod Dystrophy 2, CONE-ROD DYSTROPHY 18, Cone rod dystrophy, Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749	23746546, 25356532, 27930654, 28388261, 23746546
Macular dystrophy	Macular dystrophy	rs80338903, rs267606875, rs137853006, rs62635654, rs104893967, rs61755793, rs62625014, rs724159985, rs398122391, rs1800728, rs61755810, rs61755814, rs61748556, rs61751263, rs61751402, rs281865377, rs61750641, rs62645944, rs61748545, rs281865239, rs281865255, rs62636273, rs794727197, rs201471607, rs764256655, rs886041141, rs1554604767, rs749537392, rs778234759, rs1553192682, rs1553195472, rs753657349, rs1555801963, rs1555961220, rs1347914291, rs1553260321, rs1201356843, rs373792616, rs141386891, rs868349465, rs1562140604, rs1562434099, rs1565387045, rs1582764504, rs1582764528, rs1582780842, rs1225032182, rs1582323732, rs745871149, rs140257538, rs104886173, rs1660844326, rs1660936779, rs61749429, rs754088610, rs1304065271, rs368383940	25356532, 23746546
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023

Show/Hide Unknown Diseases (1)

Unknown
Disease name	Disease term	dbSNP ID	References
Nyctalopia	Nyctalopia

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