GCC2

Summary

GCC2 (GRIP and coiled-coil domain containing 2, HGNC:23218) is a protein-coding gene on chromosome 2q12.3, encoding GRIP and coiled-coil domain-containing protein 2 (Q8IWJ2). Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi.

The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9648 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 304 total
• MANE Select transcript: NM_181453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23218
Approved symbol	GCC2
Name	GRIP and coiled-coil domain containing 2
Location	2q12.3
Locus type	gene with protein product
Status	Approved
Aliases	GCC185, KIAA0336
Ensembl gene	ENSG00000135968
Ensembl biotype	protein_coding
OMIM	612711
Entrez	9648

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 13 protein_coding, 11 retained_intron, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000309863, ENST00000393321, ENST00000409821, ENST00000409896, ENST00000447558, ENST00000462897, ENST00000467566, ENST00000478207, ENST00000480863, ENST00000481729, ENST00000482325, ENST00000485546, ENST00000492785, ENST00000685519, ENST00000687399, ENST00000687832, ENST00000688612, ENST00000689620, ENST00000690850, ENST00000691012, ENST00000692013, ENST00000692694, ENST00000692969, ENST00000693266, ENST00000693744, ENST00000926766, ENST00000926767, ENST00000926768, ENST00000926769, ENST00000953175

RefSeq mRNA: 2 — MANE Select: NM_181453 NM_001410194, NM_181453

CCDS: CCDS33268

Canonical transcript exons

ENST00000309863 — 23 exons

Exon	Start	End
ENSE00001690448	108449206	108449280
ENSE00002046473	108507560	108509415
ENSE00003461364	108496970	108497109
ENSE00003466386	108468980	108469084
ENSE00003484010	108495291	108495485
ENSE00003484212	108481697	108481816
ENSE00003504234	108475535	108475635
ENSE00003506460	108469651	108472116
ENSE00003541903	108483062	108483166
ENSE00003558020	108492573	108492790
ENSE00003563740	108485636	108485736
ENSE00003574378	108487699	108487820
ENSE00003589436	108452399	108452466
ENSE00003590426	108484149	108484311
ENSE00003592511	108485831	108485908
ENSE00003594073	108499553	108499754
ENSE00003597131	108475752	108475850
ENSE00003617439	108482287	108482451
ENSE00003632942	108486511	108486648
ENSE00003650551	108489838	108490014
ENSE00003672147	108449633	108449689
ENSE00003687924	108451028	108451112
ENSE00003788128	108472827	108472899

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 97.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.6810 / max 1578.8976, expressed in 1800 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21868	33.0346	1798
21869	1.0953	479
21871	0.3321	96
21872	0.2191	58

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.66	gold quality
corpus epididymis	UBERON:0004359	97.36	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.10	gold quality
colonic epithelium	UBERON:0000397	95.85	gold quality
bronchial epithelial cell	CL:0002328	95.11	gold quality
jejunal mucosa	UBERON:0000399	95.08	gold quality
epithelium of bronchus	UBERON:0002031	94.98	gold quality
choroid plexus epithelium	UBERON:0003911	94.96	gold quality
caput epididymis	UBERON:0004358	94.91	gold quality
bronchus	UBERON:0002185	94.81	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.37	gold quality
adrenal tissue	UBERON:0018303	94.37	gold quality
endothelial cell	CL:0000115	94.16	gold quality
corpus callosum	UBERON:0002336	94.13	gold quality
secondary oocyte	CL:0000655	93.53	gold quality
epithelium of nasopharynx	UBERON:0001951	93.48	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.35	gold quality
orbitofrontal cortex	UBERON:0004167	93.35	gold quality
right uterine tube	UBERON:0001302	93.12	gold quality
seminal vesicle	UBERON:0000998	93.04	gold quality
substantia nigra pars compacta	UBERON:0001965	92.73	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.65	gold quality
tibia	UBERON:0000979	92.28	gold quality
middle temporal gyrus	UBERON:0002771	92.15	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.09	gold quality
pons	UBERON:0000988	92.06	gold quality
jejunum	UBERON:0002115	92.02	gold quality
postcentral gyrus	UBERON:0002581	91.98	gold quality
parietal lobe	UBERON:0001872	91.88	gold quality
palpebral conjunctiva	UBERON:0001812	91.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-135	no	1086.88
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO3

Literature-anchored findings (GeneRIF, showing 12)

• targeting to subcompartments of trans-Golgi network by GRIP domain (PMID:12446665)
• The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported. (PMID:15654769)
• These data assign a specific pathway to an interesting, TGN-localized protein and suggest that GCC185 may participate in the docking of late endosome-derived, Rab9-bearing transport vesicles at the TGN. (PMID:16885419)
• GCC2 is required for endosome-to-Golgi transport and maintenance of Golgi structure. (PMID:17488291)
• Rab and Arl GTPase family members cooperate in the localization of GCC2. (PMID:18243103)
• Results show that GCC185 contains at least six binding sites for as many as 14 different Rab GTPases across its entire length. (PMID:18946081)
• Study demonstrates that Golgi recruitment of endogenous GCC185 does not involve Rab6A/A’ and Arl1. (PMID:19703403)
• Two distinct domains of GCC185 are needed either for Golgi structure maintenance or transport vesicle tethering. The domain needed for vesicle tethering binds to the clathrin adaptor AP-1. (PMID:21875948)
• Deletion of the ARL4A-interacting region of GCC185 results in inability to maintain Golgi structure and modulate endosome-to-Golgi transport. (PMID:22159419)
• These unexpected features support a model in which GCC185 collapses onto the Golgi surface, perhaps by binding to Rab GTPases, to mediate vesicle tethering. (PMID:26653856)
• In light of existing report suggesting critical role of Nef-GCC185 interaction reveals valuable mechanistic insights affecting specific protein transport pathway in docking of late endosome derived Rab9 bearing transport vesicle at TGN elucidating role of Nef during viral pathogenesis. (PMID:27105913)
• The co-localization of M6PR and of GCC2 with ASOs is influenced by the PS modifications, which have been shown to enhance the affinity of ASOs for proteins, suggesting that localization of these proteins to LEs is mediated by ASO-protein interactions. Reduction of M6PR levels also decreased PS-ASO activity in mouse cells and in livers of mice treated subcutaneously with PS-ASO, indicating a conserved mechanism. (PMID:31840180)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000110024
mus_musculus	Gcc2	ENSMUSG00000038039
rattus_norvegicus	Gcc2	ENSRNOG00000000823
drosophila_melanogaster	GCC185	FBGN0037979

Paralogs (3): GOLGA3 (ENSG00000090615), CEP164 (ENSG00000110274), NUMA1 (ENSG00000137497)

Protein

Protein identifiers

GRIP and coiled-coil domain-containing protein 2 — Q8IWJ2 (reviewed: Q8IWJ2)

Alternative names: 185 kDa Golgi coiled-coil protein, CLL-associated antigen KW-11, CTCL tumor antigen se1-1, Ran-binding protein 2-like 4, Renal carcinoma antigen NY-REN-53

All UniProt accessions (9): Q8IWJ2, A0A8I5KVA2, A0A8I5KW38, A0A8I5QJB7, B8ZZA5, B8ZZW2, H7BYJ9, U3KPU4, U3KQE0

UniProt curated annotations — full annotation on UniProt →

Function. Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2.

Subunit / interactions. Homodimer. Interacts (via GRIP domain) with RAB6A (preferentially in its GTP-bound form). May interact (RAB6A-dependent) with ARL1; according to PubMed:19703403, RAB6A and ARL1 are not involved in GCC2 Golgi localization as proposed by PubMed:18243103. Interacts (probably via GRIP domain) with RAB9A (preferentially in its GTP-bound form). Interacts with CLASP1 and CLASP2; recruits both proteins to membranes of the TGN. Interacts with STX16.

Subcellular location. Cytoplasm. Golgi apparatus. trans-Golgi network membrane.

Tissue specificity. Ubiquitous.

Domain organisation. Extended rod-like protein with coiled-coil domains.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IWJ2-1	1	yes
Q8IWJ2-3	2

RefSeq proteins (2): NP_001397123, NP_852118* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000237	GRIP_dom	Domain
IPR032023	GCC2_Rab_bind	Domain
IPR051841	MT-Golgi_org_protein	Family

Pfam: PF01465, PF16704

UniProt features (22 total): modified residue 6, region of interest 4, mutagenesis site 3, splice variant 2, sequence variant 2, chain 1, domain 1, helix 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3BBP	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWJ2-F1	71.96	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 14, 236, 1483, 1487, 1, 11

Mutagenesis-validated functional residues (3):

Position	Phenotype
1588	slightly decreases rab6a binding affinity. decreases rab9a binding affinity by 2-fold. strongly decreases rab6a or rab9a
1595	decreases rab6a binding affinity by 2-fold. strongly decreases rab9a binding affinity. strongly decreases rab6a or rab9a
1618	no effect on interaction with rab6a and rab9a.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-9725370	Signaling by ALK fusions and activated point mutants

MSigDB gene sets: 227 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_LYSOSOMAL_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_MICROTUBULE_ANCHORING, chr2q12, AAGCCAT_MIR135A_MIR135B, GOBP_PROTEIN_TARGETING, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY

GO Biological Process (10): protein targeting to lysosome (GO:0006622), microtubule organizing center organization (GO:0031023), protein localization to Golgi apparatus (GO:0034067), microtubule anchoring (GO:0034453), late endosome to Golgi transport (GO:0034499), retrograde transport, endosome to Golgi (GO:0042147), regulation of protein exit from endoplasmic reticulum (GO:0070861), recycling endosome to Golgi transport (GO:0071955), Golgi ribbon formation (GO:0090161), protein transport (GO:0015031)

GO Molecular Function (3): small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signaling by ALK in cancer	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
microtubule cytoskeleton organization	2
retrograde transport, endosome to Golgi	2
Golgi vesicle transport	2
protein targeting to vacuole	1
lysosomal transport	1
protein localization to lysosome	1
microtubule-based process	1
cellular component organization	1
protein localization to organelle	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
protein exit from endoplasmic reticulum	1
regulation of intracellular protein transport	1
Golgi organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
GTPase binding	1
protein binding	1
binding	1
nuclear lumen	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GCC2	RAB6A	P20340	991
GCC2	GRIP1	Q9Y3R0	959
GCC2	STX16	O14662	957
GCC2	CLASRP	Q8N2M8	955
GCC2	RANBP2	P49792	882
GCC2	GOLGA4	Q13439	866
GCC2	RAB9A	P51151	771
GCC2	GOLGA2	Q08379	744
GCC2	ARL4A	P40617	740
GCC2	RAB30	Q15771	723
GCC2	GOLGA1	Q92805	719
GCC2	CLASP2	O75122	708
GCC2	RAB2A	P08886	696
GCC2	VTI1A	Q96AJ9	682
GCC2	STX10	O60499	667
GCC2	GORASP1	Q9BQQ3	667

IntAct

107 interactions, top by confidence:

A	B	Type	Score
KIFAP3	KIF3B	psi-mi:“MI:0914”(association)	0.900
EXOC3	EXOC5	psi-mi:“MI:0914”(association)	0.790
BRK1	HSBP1	psi-mi:“MI:0914”(association)	0.740
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
TTC4	EDRF1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GCC2	RAB6A	psi-mi:“MI:0407”(direct interaction)	0.620
RAB6A	GCC2	psi-mi:“MI:0407”(direct interaction)	0.620
GCC2	RAB9A	psi-mi:“MI:0407”(direct interaction)	0.560
WASHC3	WASH3P	psi-mi:“MI:0914”(association)	0.530
MLLT6	RGPD8	psi-mi:“MI:0914”(association)	0.530
CCDC107	PLD2	psi-mi:“MI:0914”(association)	0.530
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530

BioGRID (186): GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Co-fractionation), GCC2 (Co-fractionation), GCC2 (Co-fractionation), GCC2 (Affinity Capture-MS), GCC2 (Biochemical Activity), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS), GCC2 (Affinity Capture-MS)

ESM2 similar proteins: D3ZZL9, E9Q1U1, F4I9A2, O75330, O97961, P49454, P61430, P97779, Q00547, Q03410, Q0VBY1, Q13439, Q14789, Q15075, Q15643, Q28628, Q4R7H3, Q53EZ4, Q5M7B7, Q5RI56, Q5T9S5, Q60563, Q61595, Q62209, Q640L5, Q6TFL3, Q70FJ1, Q7FAD5, Q861Q8, Q86UP2, Q8BL66, Q8CDI7, Q8CHG3, Q8HYY4, Q8IWJ2, Q8NB25, Q8NCX0, Q8R5M4, Q90631, Q90Z16

Diamond homologs: A0A0B4K7J2, A6NKT7, D3ZZL9, H2QII6, O14715, P0DJD0, P0DJD1, P32499, P34022, P34562, P40517, P41920, P43487, P48820, P49792, P92985, Q09717, Q3T0M7, Q54KD9, Q7Z3J3, Q8CHG3, Q8IWJ2, Q8RWG8, Q99666, Q9ERU9, Q9LMK7, Q9USL4, G0S8I1, Q09146, Q96CN9, Q9D4H2

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
GCC2	“up-regulates activity”	IGF2R	relocalization
GCC2	“up-regulates activity”	M6PR	relocalization
RAB9A	“up-regulates activity”	GCC2

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of activated PAK-2p34 by proteasome mediated degradation	7	25.6×	3e-07
Negative regulation of NOTCH4 signaling	8	25.0×	5e-08
Regulation of ornithine decarboxylase (ODC)	7	25.0×	3e-07
Vpu mediated degradation of CD4	7	24.5×	3e-07
Autodegradation of the E3 ubiquitin ligase COP1	7	24.5×	3e-07
Ubiquitin-dependent degradation of Cyclin D	7	24.5×	3e-07
SPOP-mediated proteasomal degradation of PD-L1(CD274)	8	24.0×	6e-08
Cross-presentation of soluble exogenous antigens (endosomes)	7	23.4×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
mitotic spindle organization	6	17.0×	5e-04
microtubule cytoskeleton organization	8	10.1×	5e-04
cell division	10	4.8×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

304 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	232
Likely benign	23
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

3094 predictions. Top by Δscore:

Variant	Effect	Δscore
2:108452389:A:AG	acceptor_gain	1.0000
2:108452397:A:AG	acceptor_gain	1.0000
2:108452398:G:GG	acceptor_gain	1.0000
2:108469081:TGAGG:T	donor_loss	1.0000
2:108469082:GAGGT:G	donor_loss	1.0000
2:108469083:AGG:A	donor_loss	1.0000
2:108469086:T:G	donor_loss	1.0000
2:108475530:TTTA:T	acceptor_loss	1.0000
2:108475532:TA:T	acceptor_loss	1.0000
2:108475533:A:AG	acceptor_gain	1.0000
2:108475533:AGA:A	acceptor_loss	1.0000
2:108475534:G:GG	acceptor_gain	1.0000
2:108475534:GA:G	acceptor_gain	1.0000
2:108475534:GAA:G	acceptor_gain	1.0000
2:108475534:GAAA:G	acceptor_gain	1.0000
2:108475534:GAAAA:G	acceptor_gain	1.0000
2:108475633:GAG:G	donor_gain	1.0000
2:108475637:T:G	donor_loss	1.0000
2:108475738:T:A	acceptor_gain	1.0000
2:108475740:T:TA	acceptor_gain	1.0000
2:108475745:A:AG	acceptor_gain	1.0000
2:108475746:A:AG	acceptor_gain	1.0000
2:108475747:A:AG	acceptor_gain	1.0000
2:108475748:A:G	acceptor_gain	1.0000
2:108475750:A:AG	acceptor_gain	1.0000
2:108475750:A:AT	acceptor_loss	1.0000
2:108475751:G:GA	acceptor_gain	1.0000
2:108475751:GA:G	acceptor_gain	1.0000
2:108475751:GAC:G	acceptor_gain	1.0000
2:108475751:GACC:G	acceptor_gain	1.0000

AlphaMissense

11215 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:108499707:T:C	L1646S	0.997
2:108499557:T:C	L1596P	0.996
2:108499630:G:C	K1620N	0.996
2:108499630:G:T	K1620N	0.996
2:108499646:T:C	F1626L	0.996
2:108499648:C:A	F1626L	0.996
2:108499648:C:G	F1626L	0.996
2:108499692:T:A	V1641D	0.996
2:108507613:T:A	W1680R	0.996
2:108507613:T:C	W1680R	0.996
2:108487748:T:A	V1327D	0.995
2:108487745:G:C	R1326P	0.994
2:108497093:T:C	L1589P	0.994
2:108499560:A:T	K1597I	0.994
2:108499635:T:A	V1622D	0.994
2:108499647:T:C	F1626S	0.994
2:108487757:T:A	V1330D	0.993
2:108497063:T:C	L1579P	0.993
2:108499683:T:C	L1638P	0.993
2:108499713:T:C	L1648P	0.993
2:108507592:T:A	W1673R	0.993
2:108507592:T:C	W1673R	0.993
2:108475594:G:C	A974P	0.992
2:108487740:A:C	K1324N	0.992
2:108487740:A:T	K1324N	0.992
2:108489867:T:C	L1361P	0.992
2:108497077:G:C	A1584P	0.992
2:108470885:T:C	L519P	0.991
2:108475603:G:C	A977P	0.991
2:108484198:G:C	R1167P	0.991

dbSNP variants (sampled 300 via entrez): RS1000052632 (2:108504866 T>C), RS1000099389 (2:108479806 A>G), RS1000187568 (2:108489556 A>T), RS1000234141 (2:108489963 A>G), RS1000281662 (2:108448591 A>G), RS1000327263 (2:108460873 G>T), RS1000351313 (2:108500171 C>T), RS1000379788 (2:108461109 T>A,C), RS1000405309 (2:108505050 T>C), RS1000422234 (2:108483308 C>A,T), RS1000469195 (2:108458969 C>G), RS1000535128 (2:108455106 A>G), RS1000613087 (2:108509628 T>C,G), RS1000638413 (2:108449933 C>A), RS1000687721 (2:108450054 T>C)

Disease associations

OMIM: gene MIM:612711 | disease phenotypes: MIM:608033

GenCC curated gene-disease

Mondo (1): familial acute necrotizing encephalopathy (MONDO:0011953)

Orphanet (1): Familial acute necrotizing encephalopathy (Orphanet:88619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST003476_3	Eyebrow thickness	1.000000e-07
GCST004599_279	Mean platelet volume	1.000000e-10
GCST006095_2	Excessive hairiness	2.000000e-09
GCST010204_123	Low density lipoprotein cholesterol levels	1.000000e-12
GCST90002401_383	Platelet distribution width	2.000000e-09
GCST90013406_242	Liver enzyme levels (alkaline phosphatase)	2.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007984	platelet component distribution width
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression, increases expression	4
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
dimethylselenide	increases expression, increases oxidation	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	increases expression, increases abundance, affects cotreatment	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Clorgyline	increases expression	1
Clozapine	decreases expression	1
Endosulfan	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7QK	Ubigene A-549 GCC2 KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.