LIN7B

Summary

LIN7B (lin-7 cell polarity scaffold B, HGNC:17788) is a protein-coding gene on chromosome 19q13.33, encoding Protein lin-7 homolog B (Q9HAP6). Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells.

Enables protein domain specific binding activity. Predicted to be involved in neurotransmitter secretion; regulation of synaptic assembly at neuromuscular junction; and synaptic vesicle transport. Predicted to be located in plasma membrane. Predicted to be part of MPP7-DLG1-LIN7 complex. Predicted to be active in basolateral plasma membrane; cell-cell junction; and postsynaptic density, intracellular component.

Source: NCBI Gene 64130 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_022165

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17788
Approved symbol	LIN7B
Name	lin-7 cell polarity scaffold B
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	MALS-2, LIN-7B, VELI2
Ensembl gene	ENSG00000104863
Ensembl biotype	protein_coding
OMIM	612331
Entrez	64130

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000221459, ENST00000391864, ENST00000465141, ENST00000469137, ENST00000474252, ENST00000486217, ENST00000595200, ENST00000882750, ENST00000959992

RefSeq mRNA: 2 — MANE Select: NM_022165 NM_001308419, NM_022165

CCDS: CCDS12757, CCDS77328

Canonical transcript exons

ENST00000221459 — 6 exons

Exon	Start	End
ENSE00000349030	49114849	49114967
ENSE00001116427	49114370	49114441
ENSE00003495515	49115260	49115331
ENSE00003543679	49116263	49116472
ENSE00003564202	49117855	49118018
ENSE00003646225	49118352	49118460

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 94.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6626 / max 47.4131, expressed in 1595 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176933	4.1770	1565
176932	0.4247	195
176934	0.0609	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	94.58	gold quality
anterior cingulate cortex	UBERON:0009835	94.48	gold quality
endothelial cell	CL:0000115	94.40	gold quality
cingulate cortex	UBERON:0003027	94.39	gold quality
right frontal lobe	UBERON:0002810	94.10	gold quality
nucleus accumbens	UBERON:0001882	94.01	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.57	gold quality
adenohypophysis	UBERON:0002196	93.54	gold quality
prefrontal cortex	UBERON:0000451	93.26	gold quality
amygdala	UBERON:0001876	93.20	gold quality
caudate nucleus	UBERON:0001873	93.04	gold quality
putamen	UBERON:0001874	93.01	gold quality
pituitary gland	UBERON:0000007	92.77	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.57	gold quality
gastrocnemius	UBERON:0001388	92.26	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.21	gold quality
apex of heart	UBERON:0002098	92.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.67	gold quality
hypothalamus	UBERON:0001898	91.43	gold quality
muscle of leg	UBERON:0001383	91.34	gold quality
cerebellar hemisphere	UBERON:0002245	91.30	gold quality
cerebellar cortex	UBERON:0002129	91.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.14	gold quality
neocortex	UBERON:0001950	91.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.92	gold quality
skin of leg	UBERON:0001511	90.83	gold quality
frontal cortex	UBERON:0001870	90.83	gold quality
mucosa of transverse colon	UBERON:0004991	90.81	gold quality
right atrium auricular region	UBERON:0006631	90.52	gold quality
skin of abdomen	UBERON:0001416	90.35	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	757.67
E-GEOD-93593	yes	122.41
E-ANND-3	yes	3.59

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• LIN7B is a partner of IRSp53 anchoring the actin-based membrane cytoskeleton at cell-cell contacts. (PMID:14596909)
• PSD-95 and Lin-7b interact with acid-sensing ion channel-3 and have opposite effects on H+- gated current (PMID:15317815)
• Lin-7B is a binding partner for Rhotekin in the human brain cDNA library (PMID:16979770)
• Allelic and haplotype association was found between both BDNF and adult ADHD, and LIN-7 and adult ADHD. (PMID:18286632)
• Data suggest that decreased cortical LIN7b expression may contribute to abnormal corticostriatal connectivity in Huntington disease. (PMID:20720508)
• functional deficiency in Lin-7B could be implicated in clinical phenotypes in some autism spectrum disorders patients through bringing about abnormal cortical architecture (PMID:25196215)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lin7b	ENSDARG00000037932
mus_musculus	Lin7b	ENSMUSG00000003872
rattus_norvegicus	Lin7b	ENSRNOG00000020746
drosophila_melanogaster	veli	FBGN0039269
caenorhabditis_elegans		WBGENE00002996

Paralogs (3): LIN7A (ENSG00000111052), PDZD11 (ENSG00000120509), LIN7C (ENSG00000148943)

Protein

Protein identifiers

Protein lin-7 homolog B — Q9HAP6 (reviewed: Q9HAP6)

Alternative names: Mammalian lin-seven protein 2, Vertebrate lin-7 homolog 2

All UniProt accessions (3): Q9HAP6, M0R2U1, S4R3R4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules. This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface.

Subunit / interactions. Forms a complex with CASK and CASKIN1. Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2-LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules. Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of PALS1 interacts with the L27 domain of PATJ and the C-terminal L27 domain of PALS1 interacts with the L27 domain of LIN7B. Forms a heterotrimeric complex with DLG1 and CASK via their L27 domains. Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1. Interacts with ASIC3. Interacts with TOPK. Interacts with RTKN. Interacts with APBA1. Interacts with MPP7. Interacts with DLG2. Interacts with DLG3.

Subcellular location. Cell membrane. Basolateral cell membrane. Cell junction. Postsynaptic density membrane. Tight junction.

Domain organisation. The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane. The PDZ domain regulates endocytosis and recycling of the receptor at the membrane. The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes.

Similarity. Belongs to the lin-7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HAP6-1	1	yes
Q9HAP6-2	2

RefSeq proteins (2): NP_001295348, NP_071448* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR004172	L27_dom	Domain
IPR014775	L27_C	Domain
IPR017365	LIN7	Family
IPR036034	PDZ_sf	Homologous_superfamily
IPR036892	L27_dom_sf	Homologous_superfamily
IPR051109	MAM_complex_regulator	Family

Pfam: PF00595, PF02828

UniProt features (16 total): strand 6, domain 2, helix 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DKR	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAP6-F1	87.35	0.54

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-212676	Dopamine Neurotransmitter Release Cycle
R-HSA-5666185	RHO GTPases Activate Rhotekin and Rhophilins
R-HSA-6794361	Neurexins and neuroligins
R-HSA-9609736	Assembly and cell surface presentation of NMDA receptors
R-HSA-112310	Neurotransmitter release cycle
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-442755	Activation of NMDA receptors and postsynaptic events
R-HSA-6794362	Protein-protein interactions at synapses
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 122 (showing top): GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_CELL_CELL_SIGNALING, AACWWCAANK_UNKNOWN, GOBP_EXOCYTOSIS, GOBP_CELL_JUNCTION_ORGANIZATION

GO Biological Process (5): exocytosis (GO:0006887), neurotransmitter secretion (GO:0007269), regulation of synaptic assembly at neuromuscular junction (GO:0008582), protein transport (GO:0015031), synaptic vesicle transport (GO:0048489)

GO Molecular Function (3): protein domain specific binding (GO:0019904), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (11): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), bicellular tight junction (GO:0005923), basolateral plasma membrane (GO:0016323), synapse (GO:0045202), MPP7-DLG1-LIN7 complex (GO:0097025), presynapse (GO:0098793), postsynaptic density membrane (GO:0098839), membrane (GO:0016020), postsynaptic membrane (GO:0045211), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Transmission across Chemical Synapses	2
Neuronal System	2
Neurotransmitter release cycle	1
RHO GTPase Effectors	1
Protein-protein interactions at synapses	1
Activation of NMDA receptors and postsynaptic events	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Neurotransmitter receptors and postsynaptic signal transmission	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
protein binding	2
cell junction	2
cellular anatomical structure	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
neurotransmitter transport	1
chemical synaptic transmission	1
establishment of localization in cell	1
presynapse	1
signal release from synapse	1
regulation of developmental growth	1
synaptic assembly at neuromuscular junction	1
regulation of synapse assembly	1
regulation of neuromuscular junction development	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
establishment of vesicle localization	1
synaptic vesicle localization	1
molecular adaptor activity	1
binding	1
membrane	1
cell periphery	1
anchoring junction	1
apical junction complex	1
tight junction	1
basal plasma membrane	1
plasma membrane region	1
adherens junction	1
plasma membrane protein complex	1
synapse	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
synaptic membrane	1
postsynapse	1

Protein interactions and networks

STRING

762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LIN7B	RTKN	Q9BST9	823
LIN7B	APBA1	Q02410	747
LIN7B	NCR3	O14931	687
LIN7B	CASK	O14936	670
LIN7B	PICK1	Q9NRD5	625
LIN7B	GRIN2B	Q13224	581
LIN7B	ASIC2	Q16515	560
LIN7B	GNB4	Q9HAV0	549
LIN7B	GNG13	Q9P2W3	548
LIN7B	SLC6A12	P48065	520
LIN7B	DLG1	Q12959	511
LIN7B	PLCB2	Q00722	502
LIN7B	GNB3	P16520	494
LIN7B	GNAT3	A8MTJ3	469
LIN7B	NBEA	Q8NFP9	469

IntAct

355 interactions, top by confidence:

A	B	Type	Score
PALS1	LIN7A	psi-mi:“MI:0914”(association)	0.870
MPP7	LIN7B	psi-mi:“MI:0915”(physical association)	0.740
LIN7B	PALS2	psi-mi:“MI:0915”(physical association)	0.740
PALS1	LIN7B	psi-mi:“MI:0915”(physical association)	0.740
APC	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.690
ARHGEF26	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.690
MPP3	LIN7B	psi-mi:“MI:0915”(physical association)	0.670
MPP2	LIN7A	psi-mi:“MI:0914”(association)	0.640
MILR1	INPPL1	psi-mi:“MI:0914”(association)	0.640
ABCA1	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.610
MAK16	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
MPP2	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
CASK	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
NTAQ1	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
TCEANC	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
TRAPPC12	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
ENKD1	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	LIN7B	psi-mi:“MI:0915”(physical association)	0.560
LIN7C	ABLIM1	psi-mi:“MI:0914”(association)	0.530
LIN7B	CASK	psi-mi:“MI:0914”(association)	0.530
MPP2	ABLIM1	psi-mi:“MI:0914”(association)	0.530
SLC15A5	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440
LIN7B	GUCY1A2	psi-mi:“MI:0407”(direct interaction)	0.440
SLCO1C1	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (59): LIN7B (Affinity Capture-RNA), LIN7B (Affinity Capture-MS), LIN7B (Affinity Capture-MS), LIN7B (Affinity Capture-MS), LIN7B (Affinity Capture-MS), LIN7B (Affinity Capture-Western), LIN7B (Affinity Capture-Western), LIN7B (Affinity Capture-Western), LIN7B (Reconstituted Complex), CASK (Affinity Capture-Western), APBA1 (Affinity Capture-Western), LIN7B (Two-hybrid), LIN7B (Two-hybrid), MPP6 (Two-hybrid), MPP2 (Two-hybrid)

ESM2 similar proteins: A8MUH7, B1AK53, D2I3C6, O14745, O14976, O15085, O35071, O35787, O43896, O70145, O77775, O88951, O88952, P00520, P00521, P19838, P19878, P70271, P70441, P98150, Q00653, Q0P5F3, Q15599, Q28619, Q2KIB6, Q3SZK8, Q4L1J4, Q4R6G4, Q570Y9, Q5F425, Q5RAA5, Q5RC07, Q5ZM14, Q63618, Q6RHR9, Q792I0, Q8C033, Q8SQG9, Q8TB45, Q920G2

Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 157 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
Assembly and cell surface presentation of NMDA receptors	7	18.1×	3e-05
Neurexins and neuroligins	9	18.1×	9e-07
p75 NTR receptor-mediated signalling	5	9.6×	9e-03
Activation of NMDA receptors and postsynaptic events	5	9.4×	9e-03
RHOQ GTPase cycle	5	9.2×	9e-03
Cardiac conduction	7	7.8×	4e-03
Neurotransmitter receptors and postsynaptic signal transmission	7	7.2×	5e-03
RHO GTPase cycle	11	6.8×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cardiac conduction	5	28.7×	3e-04
positive regulation of synaptic transmission, glutamatergic	5	21.2×	7e-04
transport across blood-brain barrier	9	11.0×	2e-04
protein-containing complex assembly	10	7.8×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

707 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49114437:GCGGG:G	donor_gain	1.0000
19:49114964:AGAGG:A	donor_loss	1.0000
19:49114965:GAGG:G	donor_loss	1.0000
19:49114966:AGGT:A	donor_loss	1.0000
19:49114967:GGTGA:G	donor_loss	1.0000
19:49114968:G:C	donor_loss	1.0000
19:49114969:T:A	donor_loss	1.0000
19:49117851:GCAG:G	acceptor_loss	1.0000
19:49117853:A:AC	acceptor_loss	1.0000
19:49117853:A:AG	acceptor_gain	1.0000
19:49117853:AGAGC:A	acceptor_gain	1.0000
19:49117854:G:GG	acceptor_gain	1.0000
19:49117854:GA:G	acceptor_gain	1.0000
19:49117854:GAGC:G	acceptor_gain	1.0000
19:49117854:GAGCG:G	acceptor_gain	1.0000
19:49118019:G:GG	donor_gain	1.0000
19:49114438:CGGGG:C	donor_loss	0.9900
19:49114439:GGG:G	donor_gain	0.9900
19:49114440:GG:G	donor_gain	0.9900
19:49114440:GGG:G	donor_gain	0.9900
19:49114440:GGGT:G	donor_loss	0.9900
19:49114441:GG:G	donor_gain	0.9900
19:49114442:G:A	donor_loss	0.9900
19:49114442:G:GG	donor_gain	0.9900
19:49114443:T:C	donor_loss	0.9900
19:49114847:A:AG	acceptor_gain	0.9900
19:49114848:G:GG	acceptor_gain	0.9900
19:49114848:GAC:G	acceptor_gain	0.9900
19:49114848:GACGT:G	acceptor_gain	0.9900
19:49114965:GAG:G	donor_gain	0.9900

AlphaMissense

1312 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49116321:T:C	L96P	1.000
19:49116342:T:A	L103Q	1.000
19:49116342:T:C	L103P	1.000
19:49116344:G:C	G104R	1.000
19:49116345:G:A	G104D	1.000
19:49116345:G:T	G104V	1.000
19:49116348:T:C	F105S	1.000
19:49116352:C:A	N106K	1.000
19:49116352:C:G	N106K	1.000
19:49116354:T:A	I107N	1.000
19:49116354:T:C	I107T	1.000
19:49116354:T:G	I107S	1.000
19:49116359:G:C	G109R	1.000
19:49116359:G:T	G109C	1.000
19:49116384:T:A	I117N	1.000
19:49116386:T:G	Y118D	1.000
19:49116390:T:A	I119N	1.000
19:49116390:T:C	I119T	1.000
19:49116390:T:G	I119S	1.000
19:49116392:T:C	S120P	1.000
19:49116417:C:A	A128D	1.000
19:49116435:T:A	L134H	1.000
19:49116444:G:A	G137E	1.000
19:49116444:G:T	G137V	1.000
19:49116447:A:C	D138A	1.000
19:49116447:A:G	D138G	1.000
19:49116447:A:T	D138V	1.000
19:49116453:T:A	L140Q	1.000
19:49116453:T:C	L140P	1.000
19:49116458:T:C	S142P	1.000

dbSNP variants (sampled 300 via entrez): RS1000029134 (19:49118920 C>G,T), RS1000095052 (19:49114286 G>A), RS1000139660 (19:49116985 C>T), RS1001098124 (19:49112942 C>T), RS1001434132 (19:49113408 G>A), RS1001811956 (19:49116007 C>T), RS1002086671 (19:49114579 C>T), RS1002139370 (19:49114788 C>A,G,T), RS1002825932 (19:49116341 C>T), RS1003604852 (19:49118035 C>A), RS1003766045 (19:49113468 T>A), RS1003994184 (19:49117268 A>C), RS1004062034 (19:49118174 GT>G), RS1004150790 (19:49112572 C>G), RS1004341186 (19:49117066 T>C)

Disease associations

OMIM: gene MIM:612331 | 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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	increases expression	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Sunitinib	decreases expression	1
Doxorubicin	increases expression	1
Hydrogen Peroxide	affects expression	1
Lead	affects expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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