AKIRIN2

Summary

AKIRIN2 (akirin 2, HGNC:21407) is a protein-coding gene on chromosome 6q15, encoding Akirin-2 (Q53H80). Molecular adapter that acts as a bridge between a variety of multiprotein complexes, and which is involved in embryonic development, immunity, myogenesis and brain development. It is a common-essential gene (DepMap: required in 95.0% of cancer cell lines).

Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus.

Source: NCBI Gene 55122 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 45 total — 8 pathogenic
• Cancer dependency (DepMap): dependent in 95.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_018064

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21407
Approved symbol	AKIRIN2
Name	akirin 2
Location	6q15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10342, dJ486L4.2
Ensembl gene	ENSG00000135334
Ensembl biotype	protein_coding
OMIM	615165
Entrez	55122

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000257787, ENST00000420494, ENST00000887173, ENST00000887174, ENST00000957693

RefSeq mRNA: 1 — MANE Select: NM_018064 NM_018064

CCDS: CCDS5013

Canonical transcript exons

ENST00000257787 — 5 exons

Exon	Start	End
ENSE00000798165	87681620	87681763
ENSE00000798168	87677818	87677967
ENSE00000974840	87701450	87702233
ENSE00000974841	87674860	87675607
ENSE00001414265	87675860	87675931

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.5700 / max 549.7582, expressed in 1824 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74636	28.6931	1818
74631	12.1862	1774
74633	2.9218	1267
74635	2.8345	1378
74634	1.1253	703
74632	0.4821	254
74630	0.3269	142

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	98.87	gold quality
monocyte	CL:0000576	98.18	gold quality
secondary oocyte	CL:0000655	98.00	gold quality
leukocyte	CL:0000738	97.98	gold quality
ganglionic eminence	UBERON:0004023	97.58	gold quality
embryo	UBERON:0000922	97.57	gold quality
ventricular zone	UBERON:0003053	97.01	gold quality
cortical plate	UBERON:0005343	96.35	gold quality
left ventricle myocardium	UBERON:0006566	95.89	gold quality
gastrocnemius	UBERON:0001388	95.78	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.67	gold quality
muscle of leg	UBERON:0001383	95.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.19	gold quality
granulocyte	CL:0000094	95.02	gold quality
decidua	UBERON:0002450	94.94	gold quality
spleen	UBERON:0002106	94.90	gold quality
tibialis anterior	UBERON:0001385	94.73	gold quality
vermiform appendix	UBERON:0001154	94.52	gold quality
skeletal muscle organ	UBERON:0014892	94.51	gold quality
lymph node	UBERON:0000029	94.43	gold quality
blood	UBERON:0000178	94.40	gold quality
right adrenal gland cortex	UBERON:0035827	93.93	gold quality
bone marrow cell	CL:0002092	93.92	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.68	gold quality
right lung	UBERON:0002167	93.65	gold quality
amniotic fluid	UBERON:0000173	93.57	gold quality
right adrenal gland	UBERON:0001233	93.47	gold quality
upper lobe of left lung	UBERON:0008952	93.46	gold quality
sperm	CL:0000019	93.37	gold quality
smooth muscle tissue	UBERON:0001135	93.37	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting AKIRIN2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• Akirin-2 downregulation increases chemosensitivity in human glioblastomas more efficiently than Twist-1 (PMID:26036627)
• this review discusses current understanding of the molecular mechanisms that have instrumental roles in governing the inflammatory response with special emphasis on Akirin2 in B cells (PMID:28605346)
• Akirin-2 can be a novel biomarker in imatinib resistance. Targeting Akirin-2, NFkappaB and beta-catenin genes may provide an opportunity to overcome imatinib resistance in CML. (PMID:29945498)
• Akirin2 expression is negatively controlled by miR-490-3p in cholangiocarcinoma (CCA) cells, and miR-490-3p attenuated cell migration and angiogenesis in CCA cells by silencing Akirin2. (PMID:30886152)
• AKIRIN2 controls the nuclear import of proteasomes in vertebrates. (PMID:34711951)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	akirin2	ENSDARG00000058729
mus_musculus	Akirin2	ENSMUSG00000028291
rattus_norvegicus	Akirin2	ENSRNOG00000008288
drosophila_melanogaster	akirin	FBGN0082598
caenorhabditis_elegans	akir-1	WBGENE00017088

Paralogs (1): AKIRIN1 (ENSG00000174574)

Protein

Protein identifiers

Akirin-2 — Q53H80 (reviewed: Q53H80)

All UniProt accessions (1): Q53H80

UniProt curated annotations — full annotation on UniProt →

Function. Molecular adapter that acts as a bridge between a variety of multiprotein complexes, and which is involved in embryonic development, immunity, myogenesis and brain development. Plays a key role in nuclear protein degradation by promoting import of proteasomes into the nucleus: directly binds to fully assembled 20S proteasomes at one end and to nuclear import receptor IPO9 at the other end, bridging them together and mediating the import of pre-assembled proteasome complexes through the nuclear pore. Involved in innate immunity by regulating the production of interleukin-6 (IL6) downstream of Toll-like receptor (TLR): acts by bridging the NF-kappa-B inhibitor NFKBIZ and the SWI/SNF complex, leading to promote induction of IL6. Also involved in adaptive immunity by promoting B-cell activation. Involved in brain development: required for the survival and proliferation of cerebral cortical progenitor cells. Involved in myogenesis: required for skeletal muscle formation and skeletal development, possibly by regulating expression of muscle differentiation factors. Also plays a role in facilitating interdigital tissue regression during limb development.

Subunit / interactions. Homodimer. Interacts with IPO9; the interaction is direct. Associates (via SYVS motif) with 20S and 26S proteasomes. Interacts with SMARCD1; promoting SWI/SNF complex recruitment. Interacts with NFKBIZ. Interacts with YWHAB.

Subcellular location. Nucleus. Cytoplasm. Membrane.

Tissue specificity. Widely expressed with the highest expression in peripheral blood leukocytes.

Post-translational modifications. Polyubiquitinated. Polyubiquitination is dependent of UBR5 that extends pre-ubiquitinated AKIRIN2.

Miscellaneous. ‘Akiraka ni suru’ means ‘making things clear’ in Japanese. The name is given based on the presence of the clear nuclear localization signal.

Similarity. Belongs to the akirin family.

RefSeq proteins (1): NP_060534* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024132	Akirin	Family

UniProt features (9 total): modified residue 3, short sequence motif 2, chain 1, mutagenesis site 1, sequence conflict 1, helix 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
7NHT	ELECTRON MICROSCOPY	3.2
9QON	ELECTRON MICROSCOPY	3.2
9QOO	ELECTRON MICROSCOPY	3.3
9QOP	ELECTRON MICROSCOPY	3.7
9QNO	ELECTRON MICROSCOPY	4.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53H80-F1	68.27	0.33

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 (3): 18, 21, 57

Mutagenesis-validated functional residues (1):

Position	Phenotype
201–203	abolished association with the 20s and 26s proteasomes.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 288 (showing top): chr6q15, GOBP_REGULATION_OF_CELL_ACTIVATION, AP1_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, TGCGCANK_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_B_CELL_ACTIVATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION

GO Biological Process (18): adaptive immune response (GO:0002250), positive regulation of adaptive immune response (GO:0002821), protein import into nucleus (GO:0006606), embryo development ending in birth or egg hatching (GO:0009792), cerebral cortex development (GO:0021987), proteasome localization (GO:0031144), response to lipopolysaccharide (GO:0032496), positive regulation of interleukin-6 production (GO:0032755), defense response to bacterium (GO:0042742), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of B cell activation (GO:0050871), regulation of muscle cell differentiation (GO:0051147), nuclear protein quality control by the ubiquitin-proteasome system (GO:0071630), immune system process (GO:0002376), proteasomal protein catabolic process (GO:0010498), protein transport (GO:0015031)

GO Molecular Function (5): transcription coregulator activity (GO:0003712), enzyme binding (GO:0019899), protein-macromolecule adaptor activity (GO:0030674), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), membrane (GO:0016020), transcription repressor complex (GO:0017053)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein binding	3
immune response	2
positive regulation of immune response	2
adaptive immune response	1
regulation of adaptive immune response	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
embryo development	1
pallium development	1
anatomical structure development	1
protein-containing complex localization	1
response to molecule of bacterial origin	1
response to lipid	1
response to oxygen-containing compound	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
defense response	1
response to bacterium	1
defense response to symbiont	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
B cell activation	1
regulation of B cell activation	1
positive regulation of lymphocyte activation	1
muscle cell differentiation	1
regulation of cell differentiation	1
protein quality control for misfolded or incompletely synthesized proteins	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
cellular response to misfolded protein	1
biological_process	1

Protein interactions and networks

STRING

5396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKIRIN2	NFKBIZ	Q9BYH8	924
AKIRIN2	DMAP1	Q9NPF5	651
AKIRIN2	RNF10	Q8N5U6	555
AKIRIN2	ACTR10	Q9NZ32	549
AKIRIN2	MED16	Q9Y2X0	520
AKIRIN2	SMARCA4	P51532	413
AKIRIN2	SMARCD1	Q96GM5	407
AKIRIN2	ESRRG	P62508	398
AKIRIN2	MIS12	Q9H081	392
AKIRIN2	PLOD1	Q02809	381
AKIRIN2	CCDC60	Q8IWA6	373
AKIRIN2	PUDP	Q08623	359
AKIRIN2	ARID2	Q68CP9	354
AKIRIN2	SMARCD2	Q92925	352
AKIRIN2	C6orf163	Q5TEZ5	348

IntAct

55 interactions, top by confidence:

A	B	Type	Score
AKIRIN2	SPG21	psi-mi:“MI:0915”(physical association)	0.890
SPG21	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.890
PSMA2	PSMA7	psi-mi:“MI:0914”(association)	0.850
PSMB2	PSMD11	psi-mi:“MI:0914”(association)	0.730
PSMB3	PSMD11	psi-mi:“MI:0914”(association)	0.640
NR1H3	NCOR1	psi-mi:“MI:0914”(association)	0.640
SORBS3	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.560
AKIRIN2	HSD17B14	psi-mi:“MI:0915”(physical association)	0.560
AKIRIN2	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.560
AKIRIN2	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
HNRNPF	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.560
MESD	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.560
AKIRIN2	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
AKIRIN2	RGPD3	psi-mi:“MI:0914”(association)	0.530
PSMB9	PSMD11	psi-mi:“MI:0914”(association)	0.530
PSMA2	PSMD11	psi-mi:“MI:0914”(association)	0.530
AKIRIN2	RGPD8	psi-mi:“MI:0914”(association)	0.530
PAXX	WRN	psi-mi:“MI:0914”(association)	0.530
PSMA5	PSMD11	psi-mi:“MI:0914”(association)	0.530
CCDC85B	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.370
AKIRIN2	LNX1	psi-mi:“MI:0915”(physical association)	0.370
Psmb5		psi-mi:“MI:0914”(association)	0.350
Psmb4	PSMD14	psi-mi:“MI:0914”(association)	0.350
PSMC4	PSMD1	psi-mi:“MI:0914”(association)	0.350
RAN	NUP214	psi-mi:“MI:0914”(association)	0.350

BioGRID (104): AKIRIN2 (Two-hybrid), AKIRIN2 (Two-hybrid), LNX1 (Two-hybrid), AKIRIN2 (Affinity Capture-MS), AKIRIN2 (Affinity Capture-MS), RAN (Affinity Capture-MS), AKIRIN2 (Affinity Capture-MS), AKIRIN2 (Affinity Capture-MS), RGPD8 (Affinity Capture-MS), SPG21 (Affinity Capture-MS), AKIRIN1 (Affinity Capture-MS), RGPD5 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), IPO9 (Affinity Capture-MS), RNF123 (Affinity Capture-MS)

ESM2 similar proteins: A0A287BDC1, A8YXY8, B1AXD8, B3F209, B3KU38, B5DF41, O00287, O14503, O15079, O35185, O54972, P03966, P04198, P12755, P18444, P26014, Q0D2I5, Q25C79, Q2KJ58, Q3MHV6, Q3UR85, Q50H33, Q53H80, Q5BL57, Q5EA15, Q5FWN7, Q5RAI7, Q60591, Q60698, Q61976, Q63379, Q68FF7, Q6GQB5, Q6ZWB6, Q7ZY70, Q8BXL9, Q8CEG5, Q8CI08, Q8N228, Q8ND83

Diamond homologs: A0A287BDC1, A8YXY8, B1AXD8, Q25C79, Q53H80, Q5BL57, Q5FWN7, Q6GQB5, Q7ZY70, Q99LF1, Q9H9L7, Q9VS59, Q966L3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
Antigen processing: Ub, ATP-independent proteasomal degradation	6	149.0×	5e-12
Cross-presentation of soluble exogenous antigens (endosomes)	10	110.3×	8e-17
Regulation of activated PAK-2p34 by proteasome mediated degradation	9	109.0×	1e-15
Regulation of ornithine decarboxylase (ODC)	9	106.4×	1e-15
Vpu mediated degradation of CD4	9	103.9×	1e-15
Autodegradation of the E3 ubiquitin ligase COP1	9	103.9×	1e-15
Ubiquitin-dependent degradation of Cyclin D	9	103.9×	1e-15
Vif-mediated degradation of APOBEC3G	9	99.3×	2e-15

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	10	15.8×	7e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	Pathogenic
146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	Pathogenic
147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	Pathogenic
2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	Pathogenic
560055	Single allele	Pathogenic
563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	Pathogenic
58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	Pathogenic
814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	Pathogenic

SpliceAI

830 predictions. Top by Δscore:

Variant	Effect	Δscore
6:87675605:CAT:C	acceptor_gain	1.0000
6:87675854:ACTT:A	donor_loss	1.0000
6:87675855:CT:C	donor_loss	1.0000
6:87675856:TTACA:T	donor_loss	1.0000
6:87675857:TA:T	donor_loss	1.0000
6:87675858:A:AC	donor_gain	1.0000
6:87675858:ACAG:A	donor_gain	1.0000
6:87675859:C:A	donor_loss	1.0000
6:87675859:C:CA	donor_gain	1.0000
6:87675859:CA:C	donor_gain	1.0000
6:87675859:CAG:C	donor_gain	1.0000
6:87675859:CAGC:C	donor_gain	1.0000
6:87675859:CAGCT:C	donor_gain	1.0000
6:87675927:TTGTT:T	acceptor_gain	1.0000
6:87675928:TGTT:T	acceptor_gain	1.0000
6:87675929:GTT:G	acceptor_gain	1.0000
6:87675929:GTTC:G	acceptor_loss	1.0000
6:87675930:TT:T	acceptor_gain	1.0000
6:87675932:C:CC	acceptor_gain	1.0000
6:87675932:CT:C	acceptor_loss	1.0000
6:87677813:CATAC:C	donor_loss	1.0000
6:87677965:TCC:T	acceptor_gain	1.0000
6:87677965:TCCC:T	acceptor_loss	1.0000
6:87677966:CC:C	acceptor_gain	1.0000
6:87677966:CCC:C	acceptor_gain	1.0000
6:87677967:CC:C	acceptor_gain	1.0000
6:87677968:C:CC	acceptor_gain	1.0000
6:87677970:A:C	acceptor_gain	1.0000
6:87677972:G:GC	acceptor_gain	1.0000
6:87677975:CAA:C	acceptor_gain	1.0000

AlphaMissense

1287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:87675895:T:G	Q189P	1.000
6:87675906:A:C	F185L	1.000
6:87675906:A:T	F185L	1.000
6:87675907:A:C	F185C	1.000
6:87675907:A:G	F185S	1.000
6:87675908:A:G	F185L	1.000
6:87675908:A:T	F185I	1.000
6:87675915:A:C	F182L	1.000
6:87675915:A:T	F182L	1.000
6:87675917:A:G	F182L	1.000
6:87675928:T:G	Q178P	1.000
6:87677823:A:G	L175P	1.000
6:87677919:A:G	F143S	1.000
6:87701658:C:A	R9S	1.000
6:87701658:C:G	R9S	1.000
6:87701659:C:A	R9M	1.000
6:87701661:T:A	K8N	1.000
6:87701661:T:G	K8N	1.000
6:87675861:G:C	S200R	0.999
6:87675861:G:T	S200R	0.999
6:87675863:T:G	S200R	0.999
6:87675886:C:G	R192P	0.999
6:87675892:A:C	I190R	0.999
6:87675892:A:G	I190T	0.999
6:87675892:A:T	I190K	0.999
6:87675898:T:A	D188V	0.999
6:87675898:T:G	D188A	0.999
6:87675908:A:C	F185V	0.999
6:87675913:A:T	V183E	0.999
6:87675916:A:G	F182S	0.999

dbSNP variants (sampled 300 via entrez): RS1000000408 (6:87693009 A>G), RS1000178217 (6:87697091 C>A,G), RS1000200019 (6:87693325 C>A,T), RS1000235195 (6:87698098 T>C), RS1000321650 (6:87687742 G>C), RS1000357252 (6:87681890 G>A,C), RS1000657954 (6:87687931 G>A,C), RS1000702892 (6:87681076 C>T), RS1000729698 (6:87703453 A>T), RS1000949112 (6:87703737 C>A,G), RS1001218006 (6:87692833 G>A,C), RS1001237329 (6:87698608 G>A,C), RS1001255331 (6:87678395 G>A), RS1001294190 (6:87697957 G>T), RS1001539037 (6:87680461 C>A,T)

Disease associations

OMIM: gene MIM:615165 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, decreases expression, increases methylation	4
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Acetaminophen	increases expression	2
Nickel	increases expression	2
Tobacco Smoke Pollution	increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
arsenite	affects binding, increases reaction	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	increases expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	increases expression	1
Vorinostat	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	increases expression	1
Cadmium	increases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1

Clinical trials (associated diseases)

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