DTNB

Summary

DTNB (dystrobrevin beta, HGNC:3058) is a protein-coding gene on chromosome 2p23.3, encoding Dystrobrevin beta (O60941). Scaffolding protein that assembles DMD and SNTA1 molecules to the basal membrane of kidney cells and liver sinusoids.

This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin.

Source: NCBI Gene 1838 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 121 total
• MANE Select transcript: NM_021907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3058
Approved symbol	DTNB
Name	dystrobrevin beta
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000138101
Ensembl biotype	protein_coding
OMIM	602415
Entrez	1838

Gene structure

Transcript identifiers

Ensembl transcripts: 70 — 49 protein_coding, 10 protein_coding_CDS_not_defined, 9 retained_intron, 2 nonsense_mediated_decay

ENST00000288642, ENST00000303659, ENST00000349996, ENST00000356599, ENST00000398951, ENST00000404103, ENST00000405222, ENST00000406818, ENST00000407038, ENST00000407186, ENST00000407661, ENST00000460418, ENST00000472690, ENST00000473113, ENST00000474987, ENST00000479898, ENST00000481841, ENST00000482145, ENST00000485845, ENST00000486555, ENST00000486826, ENST00000488457, ENST00000489756, ENST00000489949, ENST00000493386, ENST00000493538, ENST00000495466, ENST00000496972, ENST00000497476, ENST00000498437, ENST00000885585, ENST00000885586, ENST00000885587, ENST00000885588, ENST00000885589, ENST00000885590, ENST00000885591, ENST00000885592, ENST00000885593, ENST00000885594, ENST00000885595, ENST00000885596, ENST00000885597, ENST00000885599, ENST00000885602, ENST00000885604, ENST00000920923, ENST00000920924, ENST00000920925, ENST00000920926, ENST00000920927, ENST00000953652, ENST00000953653, ENST00000953654, ENST00000953655, ENST00000953656, ENST00000953657, ENST00000953658, ENST00000953659, ENST00000953660, ENST00000953661, ENST00000953662, ENST00000953663, ENST00000953664, ENST00000953665, ENST00000953666, ENST00000953667, ENST00000953668, ENST00000953669, ENST00000953670

RefSeq mRNA: 30 — MANE Select: NM_021907 NM_001256303, NM_001256304, NM_001256308, NM_001320932, NM_001320933, NM_001320934, NM_001320935, NM_001320936, NM_001320937, NM_001351381, NM_001351382, NM_001351383, NM_001351384, NM_001351385, NM_001351386, NM_001351387, NM_001351388, NM_001351389, NM_001351390, NM_001351391, NM_001351392, NM_001351393, NM_001351394, NM_001351395, NM_001394686, NM_021907, NM_033147, NM_033148, NM_183360, NM_183361

CCDS: CCDS46233, CCDS46234, CCDS46235, CCDS46236, CCDS46237, CCDS74496, CCDS82428

Canonical transcript exons

ENST00000406818 — 21 exons

Exon	Start	End
ENSE00001182542	25383836	25383889
ENSE00001550753	25419515	25419535
ENSE00001563469	25377243	25377553
ENSE00003477751	25580721	25580826
ENSE00003481691	25433910	25433995
ENSE00003485225	25451548	25451635
ENSE00003490243	25652594	25652661
ENSE00003517951	25432886	25432999
ENSE00003559393	25607236	25607321
ENSE00003564502	25379290	25379323
ENSE00003586372	25387289	25387378
ENSE00003586503	25455405	25455494
ENSE00003597868	25639014	25639094
ENSE00003618783	25576838	25577004
ENSE00003641572	25531473	25531597
ENSE00003659120	25628171	25628384
ENSE00003660324	25427535	25427631
ENSE00003663003	25482796	25482873
ENSE00003672839	25596086	25596240
ENSE00003689384	25388202	25388361
ENSE00003926382	25673386	25673577

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 99.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8567 / max 215.4254, expressed in 1627 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27394	10.7620	1610
27393	0.9611	529
27382	0.3876	59
27390	0.2188	55
27379	0.1354	30
27381	0.0945	31
27380	0.0925	30
27389	0.0364	10
27378	0.0339	12
27388	0.0318	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	99.12	gold quality
spinal cord	UBERON:0002240	96.71	gold quality
right frontal lobe	UBERON:0002810	93.86	gold quality
prefrontal cortex	UBERON:0000451	93.70	gold quality
cingulate cortex	UBERON:0003027	93.57	gold quality
anterior cingulate cortex	UBERON:0009835	93.53	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.26	gold quality
amygdala	UBERON:0001876	93.02	gold quality
Brodmann (1909) area 10	UBERON:0013541	92.84	gold quality
nucleus accumbens	UBERON:0001882	92.39	gold quality
saliva-secreting gland	UBERON:0001044	91.72	gold quality
putamen	UBERON:0001874	91.63	gold quality
minor salivary gland	UBERON:0001830	91.50	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.32	gold quality
substantia nigra	UBERON:0002038	90.89	gold quality
neocortex	UBERON:0001950	90.83	gold quality
frontal cortex	UBERON:0001870	90.79	gold quality
frontal lobe	UBERON:0016525	90.79	gold quality
caudate nucleus	UBERON:0001873	90.49	gold quality
parotid gland	UBERON:0001831	90.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.23	gold quality
cerebellar hemisphere	UBERON:0002245	90.11	gold quality
cerebellar cortex	UBERON:0002129	90.07	gold quality
midbrain	UBERON:0001891	89.77	gold quality
telencephalon	UBERON:0001893	89.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.64	gold quality
cerebral cortex	UBERON:0000956	89.52	gold quality
Ammon’s horn	UBERON:0001954	89.27	gold quality
central nervous system	UBERON:0001017	89.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	102.39
E-MTAB-9543	yes	11.03
E-ANND-3	yes	8.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting DTNB, 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-4534	99.99	66.58	1907
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-1271-3P	97.56	64.85	865
HSA-MIR-550A-3-5P	97.56	65.35	823
HSA-MIR-550A-5P	97.56	65.35	823
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-550B-2-5P	96.56	64.61	646
HSA-MIR-7976	95.75	65.67	1186
HSA-MIR-4268	94.45	64.09	819
HSA-MIR-4746-3P	82.55	60.61	60

Literature-anchored findings (GeneRIF, showing 4)

• results suggest that dysbindin assembled into BLOC-1 is not a physiological binding partner of the dystrobrevins, likely due to engagement of its dystrobrevin-binding region in interactions with other subunits (PMID:16448387)
• beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35 (PMID:20530487)
• Data provide new insights into the role of beta-dystrobrevin in the molecular mechanisms underlying neuronal differentiation that could be relevant in the establishment of the cognitive impairment in Duchene muscular dystrophy. (PMID:27223470)
• Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2. (PMID:35246634)

Cross-species orthologs

0 orthologs

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Dystrobrevin beta — O60941 (reviewed: O60941)

Alternative names: Beta-dystrobrevin

All UniProt accessions (8): O60941, E7ES64, E7EVB6, E9PE76, E9PEY4, F8W9U0, F8WD22, Q1I0L3

UniProt curated annotations — full annotation on UniProt →

Function. Scaffolding protein that assembles DMD and SNTA1 molecules to the basal membrane of kidney cells and liver sinusoids. May function as a repressor of the SYN1 promoter through the binding of repressor element-1 (RE-1), in turn regulates SYN1 expression and may be involved in cell proliferation regulation during the early phase of neural differentiation. May be required for proper maturation and function of a subset of inhibitory synapses.

Subunit / interactions. Interacts with dystrophin short form DP71 and syntrophins SNTG1 and SNTG2. Binds DTNBP1. Forms a specific complex composed of DMD, SNTB2 and SNTA1 in neuron; the interaction with SNTB2 and SNTA1 is DMD independent. Interacts with UTRN and dystrophin short form DP71 in the kidney and liver. Interacts with SNTB1, SNTB2 and SNTA1 in kidney and liver. Interacts with KIF5A. Interacts with HMG20A and HMG20B. Interacts with OLFM1. Interacts with PRKAR2B and PRKAR1A.

Subcellular location. Cytoplasm. Postsynaptic density. Cell projection. Dendrite. Basal cell membrane. Postsynapse. Nucleus.

Tissue specificity. Highly expressed in brain, kidney and pancreas.

Post-translational modifications. Phosphorylated by PKA. Phosphorylation at Thr-11 alters the interaction with KIF5A.

Domain organisation. The coiled coil domain may mediate the interaction with dystrophin.

Induction. Post-transcriptionally repressed by microRNA miR-143 during neural differentiation.

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

Similarity. Belongs to the dystrophin family. Dystrobrevin subfamily.

Isoforms (7)

UniProt ID	Names	Canonical?
O60941-1	1, DTN-B1	yes
O60941-2	2, Dystrophin-associated protein A0
O60941-3	3, DTN-B2
O60941-4	4
O60941-5	5
O60941-6	6
O60941-7	7

RefSeq proteins (30): NP_001243232, NP_001243233, NP_001243237, NP_001307861, NP_001307862, NP_001307863, NP_001307864, NP_001307865, NP_001307866, NP_001338310, NP_001338311, NP_001338312, NP_001338313, NP_001338314, NP_001338315, NP_001338316, NP_001338317, NP_001338318, NP_001338319, NP_001338320, NP_001338321, NP_001338322, NP_001338323, NP_001338324, NP_001381615, NP_068707, NP_149159, NP_149160, NP_899204, NP_899205 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR015153	EF-hand_dom_typ1	Domain
IPR015154	EF-hand_dom_typ2	Domain
IPR017432	Distrobrevin	Family
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR050774	KCMF1/Dystrophin	Family

Pfam: PF00569, PF09068, PF09069

UniProt features (33 total): binding site 8, modified residue 7, splice variant 7, region of interest 3, sequence variant 2, sequence conflict 2, chain 1, zinc finger region 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60941-F1	76.29	0.44

Functional residue map

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

Ligand- & substrate-binding residues (8): 261; 267; 270; 280; 284; 243; 246; 258

Post-translational modifications (7): 1, 11, 69, 179, 212, 394, 424

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)

MSigDB gene sets: 179 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, RORA1_01, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_NEUROGENESIS, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2, GOBP_CELL_CELL_SIGNALING, MODULE_66, BROWNE_HCMV_INFECTION_24HR_UP, TGCTGAY_UNKNOWN, TGANTCA_AP1_C, GOBP_SYNAPTIC_SIGNALING, MODULE_88

GO Biological Process (2): neuron differentiation (GO:0030182), synaptic signaling (GO:0099536)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (11): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), basal plasma membrane (GO:0009925), postsynaptic density (GO:0014069), dendrite (GO:0030425), synapse (GO:0045202), inhibitory synapse (GO:0060077), membrane (GO:0016020), cell projection (GO:0042995), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Non-integrin membrane-ECM interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
synapse	3
cell differentiation	1
generation of neurons	1
cell-cell signaling	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
basal part of cell	1
plasma membrane region	1
asymmetric synapse	1
postsynaptic specialization	1
neuron projection	1
dendritic tree	1
cell junction	1

Protein interactions and networks

STRING

732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DTNB	DAG1	Q14118	916
DTNB	SNTG2	Q9NY99	887
DTNB	SNTG1	Q9NSN8	877
DTNB	DTNBP1	Q96EV8	874
DTNB	SNTB2	Q13425	745
DTNB	SYNC	Q9H7C4	741
DTNB	SGCD	Q92629	720
DTNB	DMD	P11532	696
DTNB	SGCA	Q16586	667
DTNB	SNTB1	Q13884	661
DTNB	SNTA1	Q13424	654
DTNB	BLOC1S6	Q9UL45	609
DTNB	MATN3	O15232	600
DTNB	DBNDD1	Q9H9R9	598
DTNB	SGCE	O43556	567

IntAct

151 interactions, top by confidence:

A	B	Type	Score
DMD	DTNB	psi-mi:“MI:0915”(physical association)	0.890
DTNB	DMD	psi-mi:“MI:0915”(physical association)	0.890
DTNB	DMD	psi-mi:“MI:0914”(association)	0.890
DMD	DTNB	psi-mi:“MI:0914”(association)	0.890
PPFIA1	DTNB	psi-mi:“MI:0915”(physical association)	0.800
DTNB	PPFIA1	psi-mi:“MI:0915”(physical association)	0.800
DTNB	NUP62	psi-mi:“MI:0915”(physical association)	0.740
DTNB	TRAF2	psi-mi:“MI:0915”(physical association)	0.740
DTNB	CEP63	psi-mi:“MI:0915”(physical association)	0.740
DTNB	ABI2	psi-mi:“MI:0915”(physical association)	0.740
NUP62	DTNB	psi-mi:“MI:0915”(physical association)	0.740
TRAF2	DTNB	psi-mi:“MI:0915”(physical association)	0.740
CEP63	DTNB	psi-mi:“MI:0915”(physical association)	0.740

BioGRID (169): DTNB (Two-hybrid), DTNB (Two-hybrid), KRT31 (Two-hybrid), TRAF2 (Two-hybrid), VCP (Two-hybrid), PPFIA1 (Two-hybrid), ABI2 (Two-hybrid), HMG20A (Two-hybrid), MTUS2 (Two-hybrid), NUP62 (Two-hybrid), GGA1 (Two-hybrid), ABI3 (Two-hybrid), CEP55 (Two-hybrid), CEP63 (Two-hybrid), NDEL1 (Two-hybrid)

ESM2 similar proteins: A0JN61, A4QNE0, O35427, O60763, O60941, O70585, O75575, O88597, O95453, P11029, P11497, P13984, P41541, P41542, P69341, Q01750, Q05B58, Q0JNK5, Q13085, Q13901, Q14457, Q28559, Q2T9L9, Q32PE4, Q3ZBJ0, Q4A1L4, Q4A1L5, Q5R4J9, Q5R660, Q5R878, Q5RBU4, Q5SWU9, Q5ZHS3, Q5ZKS6, Q60482, Q6NRL4, Q80UM3, Q8BWQ6, Q8L5Y9, Q8NE86

Diamond homologs: A2CI97, A2CI98, A2CJ06, G3V7L1, O60941, O70585, O97592, P11530, P11531, P11532, P11533, P46939, P84060, Q05AA6, Q0KI50, Q13474, Q4U2R1, Q5GN48, Q7YU29, Q9D2N4, Q9EPA0, Q9TW65, Q9VDW3, Q9VDW6, Q9VUX2, Q9Y4J8, A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, G3MWR8, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DTNB	“form complex”	DGC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 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
Formation of the dystrophin-glycoprotein complex (DGC)	6	37.0×	4e-06
Protein-protein interactions at synapses	5	26.6×	2e-04
Non-integrin membrane-ECM interactions	5	15.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	88
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

5833 predictions. Top by Δscore:

Variant	Effect	Δscore
2:25388197:CTCA:C	donor_loss	1.0000
2:25388198:TCA:T	donor_loss	1.0000
2:25388199:CACC:C	donor_loss	1.0000
2:25388200:A:AC	donor_gain	1.0000
2:25388201:C:CC	donor_gain	1.0000
2:25388360:GC:G	acceptor_gain	1.0000
2:25388361:CC:C	acceptor_gain	1.0000
2:25388363:T:A	acceptor_loss	1.0000
2:25389549:A:AC	donor_gain	1.0000
2:25389550:C:CC	donor_gain	1.0000
2:25427529:TCTTA:T	donor_loss	1.0000
2:25427530:CTTAC:C	donor_loss	1.0000
2:25427531:TTACC:T	donor_loss	1.0000
2:25427532:TA:T	donor_loss	1.0000
2:25427533:ACC:A	donor_loss	1.0000
2:25451541:AACTT:A	donor_loss	1.0000
2:25451542:ACTTA:A	donor_loss	1.0000
2:25451543:CTT:C	donor_loss	1.0000
2:25451544:TTACC:T	donor_loss	1.0000
2:25451545:TACCA:T	donor_loss	1.0000
2:25451546:ACCAC:A	donor_loss	1.0000
2:25451547:C:CA	donor_loss	1.0000
2:25451547:CCA:C	donor_gain	1.0000
2:25451634:CA:C	acceptor_gain	1.0000
2:25482874:C:CC	acceptor_gain	1.0000
2:25531472:CA:C	donor_gain	1.0000
2:25558330:CTGGG:C	donor_gain	1.0000
2:25558331:TGGGT:T	donor_gain	1.0000
2:25577006:T:C	acceptor_gain	1.0000
2:25580715:GCTTA:G	donor_loss	1.0000

AlphaMissense

4152 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:25432973:A:G	L457P	1.000
2:25433925:A:G	L443P	1.000
2:25576900:A:G	W272R	1.000
2:25576900:A:T	W272R	1.000
2:25580760:A:G	W224R	1.000
2:25580760:A:T	W224R	1.000
2:25639055:C:G	R36T	1.000
2:25427572:A:G	L506P	0.999
2:25432898:A:G	L482P	0.999
2:25432982:A:G	I454T	0.999
2:25432991:A:G	L451P	0.999
2:25432994:A:C	I450S	0.999
2:25432994:A:G	I450T	0.999
2:25433914:T:C	N447D	0.999
2:25433937:A:G	L439P	0.999
2:25451594:A:G	L404P	0.999
2:25576898:C:A	W272C	0.999
2:25576898:C:G	W272C	0.999
2:25576901:A:C	F271L	0.999
2:25576901:A:T	F271L	0.999
2:25576903:A:G	F271L	0.999
2:25576904:G:C	C270W	0.999
2:25576906:A:G	C270R	0.999
2:25576915:A:G	C267R	0.999
2:25576917:A:G	L266P	0.999
2:25576940:G:C	C258W	0.999
2:25576942:A:G	C258R	0.999
2:25576948:A:C	Y256D	0.999
2:25576948:A:G	Y256H	0.999
2:25576957:C:G	G253R	0.999

dbSNP variants (sampled 300 via entrez): RS1000027128 (2:25389354 A>G), RS1000040739 (2:25649450 C>T), RS1000046682 (2:25615756 C>T), RS1000052370 (2:25572179 T>C), RS1000079658 (2:25608417 A>C), RS1000085466 (2:25671502 C>T), RS1000103184 (2:25652797 T>C), RS1000130505 (2:25598199 C>T), RS1000132682 (2:25426020 A>G), RS1000138233 (2:25628985 G>A,T), RS1000151597 (2:25521055 G>A,C,T), RS1000167177 (2:25611597 T>G), RS1000173790 (2:25425583 G>A), RS1000205962 (2:25630142 C>T), RS1000208739 (2:25468392 C>A,T)

Disease associations

OMIM: gene MIM:602415 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST000175_18	Height	8.000000e-07
GCST000975_1	LDL cholesterol	6.000000e-06
GCST001201_7	Response to platinum-based chemotherapy (cisplatin)	7.000000e-06
GCST001331_3	Multiple myeloma	4.000000e-07
GCST002579_7	Heschl’s gyrus morphology	9.000000e-06
GCST002921_3	Multiple myeloma	3.000000e-06
GCST002922_3	Multiple myeloma and monoclonal gammopathy	5.000000e-06
GCST004099_20	B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)	6.000000e-10
GCST005576_12	Intracranial aneurysm	2.000000e-06
GCST005950_4	Body mass index x sex x age interaction (4df test)	5.000000e-26
GCST005951_195	Body mass index	3.000000e-24
GCST005952_4	Body mass index (age>50)	5.000000e-09
GCST005953_10	Body mass index (age <50)	6.000000e-20
GCST006976_56	Macular thickness	3.000000e-10
GCST008161_51	Waist circumference adjusted for body mass index	4.000000e-06
GCST008892_1	Working memory	7.000000e-06
GCST009098_2	Resistant hypertension	5.000000e-08
GCST009102_2	Resistant hypertension	8.000000e-08
GCST009379_14	Type 2 diabetes	3.000000e-08
GCST009560_6	Decreased low contrast letter acuity in multiple sclerosis	3.000000e-06
GCST010244_406	Triglyceride levels	3.000000e-10
GCST010303_23	Nevus count or cutaneous melanoma	2.000000e-15
GCST010304_63	Cutaneous malignant melanoma	5.000000e-09
GCST012396_2	Multiple myeloma	2.000000e-10
GCST90002385_120	High light scatter reticulocyte count	5.000000e-10
GCST90002386_239	High light scatter reticulocyte percentage of red cells	2.000000e-10
GCST90002405_115	Reticulocyte count	1.000000e-11
GCST90002406_10	Reticulocyte fraction of red cells	4.000000e-11
GCST90020024_863	A body shape index	3.000000e-08
GCST90020025_1595	Waist-to-hip ratio adjusted for BMI	1.000000e-09

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004335	short-term memory
EFO:1002006	treatment-resistant hypertension
EFO:0008385	visual acuity measurement
EFO:0004530	triglyceride measurement
EFO:0004632	nevus count
EFO:0007986	reticulocyte count
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	3
Acetaminophen	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
bisphenol A	affects methylation, affects cotreatment, decreases methylation	1
sodium arsenite	decreases expression, increases abundance, affects cotreatment	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Calcitriol	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Phthalic Acids	decreases methylation	1
Polychlorinated Biphenyls	affects expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	affects methylation	1
Particulate Matter	increases abundance, increases expression	1
Volatile Organic Compounds	increases oxidation, affects cotreatment	1

Clinical trials (associated diseases)

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