DENND2B

Summary

DENND2B (DENN domain containing 2B, HGNC:11350) is a protein-coding gene on chromosome 11p15.4, encoding DENN domain-containing protein 2B (P78524). May be involved in cytoskeletal organization and tumorogenicity.

This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified.

Source: NCBI Gene 6764 — RefSeq curated summary.

At a glance

• GWAS associations: 48
• Clinical variants (ClinVar): 225 total
• MANE Select transcript: NM_213618

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11350
Approved symbol	DENND2B
Name	DENN domain containing 2B
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	HTS1, p126
Ensembl gene	ENSG00000166444
Ensembl biotype	protein_coding
OMIM	140750
Entrez	6764

Gene structure

Transcript identifiers

Ensembl transcripts: 120 — 98 protein_coding, 12 protein_coding_CDS_not_defined, 7 retained_intron, 3 nonsense_mediated_decay

ENST00000313726, ENST00000524513, ENST00000524757, ENST00000525169, ENST00000526057, ENST00000526062, ENST00000526099, ENST00000526126, ENST00000526155, ENST00000526221, ENST00000526241, ENST00000526701, ENST00000526757, ENST00000526828, ENST00000526837, ENST00000527347, ENST00000527392, ENST00000527473, ENST00000527510, ENST00000527516, ENST00000527540, ENST00000527870, ENST00000527930, ENST00000528196, ENST00000528452, ENST00000528523, ENST00000528527, ENST00000529940, ENST00000530338, ENST00000530438, ENST00000530559, ENST00000530580, ENST00000530593, ENST00000530922, ENST00000530938, ENST00000530959, ENST00000530991, ENST00000531060, ENST00000531093, ENST00000531237, ENST00000531578, ENST00000531640, ENST00000532162, ENST00000532651, ENST00000532734, ENST00000532738, ENST00000532871, ENST00000533016, ENST00000533020, ENST00000533081, ENST00000533225, ENST00000533425, ENST00000533471, ENST00000533580, ENST00000533681, ENST00000534127, ENST00000534248, ENST00000534278, ENST00000534665, ENST00000534783, ENST00000626808, ENST00000857949, ENST00000857950, ENST00000857951, ENST00000857952, ENST00000857953, ENST00000857954, ENST00000857955, ENST00000857956, ENST00000857957, ENST00000857958, ENST00000857959, ENST00000857960, ENST00000857961, ENST00000857962, ENST00000857963, ENST00000857964, ENST00000857965, ENST00000857966, ENST00000857967, ENST00000857968, ENST00000857969, ENST00000857970, ENST00000857971, ENST00000857972, ENST00000857973, ENST00000857974, ENST00000857975, ENST00000857976, ENST00000857977, ENST00000857978, ENST00000857979, ENST00000927484, ENST00000927485, ENST00000927486, ENST00000927487, ENST00000927488, ENST00000927489, ENST00000927490, ENST00000927491, ENST00000927492, ENST00000927493, ENST00000953021, ENST00000953022, ENST00000953023, ENST00000953024, ENST00000953025, ENST00000953026, ENST00000953027, ENST00000953028, ENST00000953029, ENST00000953030, ENST00000953031, ENST00000953032, ENST00000953033, ENST00000953034, ENST00000953035, ENST00000953036, ENST00000953037, ENST00000953038

RefSeq mRNA: 15 — MANE Select: NM_213618 NM_001376495, NM_001376496, NM_001376497, NM_001376498, NM_001376499, NM_001376500, NM_001376501, NM_001376502, NM_001376503, NM_001376504, NM_001376505, NM_001376506, NM_005418, NM_139157, NM_213618

CCDS: CCDS7791, CCDS7792, CCDS91434

Canonical transcript exons

ENST00000313726 — 20 exons

Exon	Start	End
ENSE00001103049	8715603	8715818
ENSE00001103056	8712551	8712735
ENSE00001426749	8729950	8731209
ENSE00002169914	8693352	8694130
ENSE00002174312	8810517	8810674
ENSE00003476159	8697525	8697636
ENSE00003492248	8696427	8696666
ENSE00003512703	8707085	8707225
ENSE00003570451	8714610	8714706
ENSE00003574227	8717741	8717892
ENSE00003583093	8698933	8698974
ENSE00003585771	8707777	8707854
ENSE00003593406	8713998	8714042
ENSE00003597340	8750621	8750725
ENSE00003602714	8699213	8699390
ENSE00003621950	8710845	8710914
ENSE00003644781	8702572	8702720
ENSE00003670436	8695463	8695549
ENSE00003785993	8726073	8726209
ENSE00003787722	8711122	8711231

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 99.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9505 / max 369.3151, expressed in 1474 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118519	11.3668	1232
118526	5.7950	1187
118525	2.9262	1060
118513	0.9925	425
118520	0.4321	199
206181	0.2985	160
118511	0.2331	121
118527	0.1940	64
118512	0.1501	57
118516	0.1275	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of uterus	UBERON:0009853	99.13	gold quality
left uterine tube	UBERON:0001303	98.91	gold quality
right uterine tube	UBERON:0001302	98.90	gold quality
right ovary	UBERON:0002118	98.47	gold quality
mucosa of stomach	UBERON:0001199	98.34	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.33	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.16	gold quality
ectocervix	UBERON:0012249	98.12	gold quality
left ovary	UBERON:0002119	98.10	gold quality
sural nerve	UBERON:0015488	98.02	gold quality
lower esophagus	UBERON:0013473	97.98	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.98	gold quality
endocervix	UBERON:0000458	97.90	gold quality
colonic epithelium	UBERON:0000397	97.89	gold quality
right adrenal gland	UBERON:0001233	97.80	gold quality
right testis	UBERON:0004534	97.73	gold quality
left testis	UBERON:0004533	97.68	gold quality
right adrenal gland cortex	UBERON:0035827	97.68	gold quality
body of stomach	UBERON:0001161	97.57	gold quality
esophagus	UBERON:0001043	97.25	gold quality
left adrenal gland	UBERON:0001234	97.24	gold quality
myometrium	UBERON:0001296	97.17	gold quality
endometrium epithelium	UBERON:0004811	97.13	silver quality
left adrenal gland cortex	UBERON:0035825	97.13	gold quality
stomach	UBERON:0000945	97.12	gold quality
paraflocculus	UBERON:0005351	97.12	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	97.11	gold quality
stromal cell of endometrium	CL:0002255	97.03	gold quality
vagina	UBERON:0000996	97.02	gold quality
popliteal artery	UBERON:0002250	96.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.10

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

61 targeting DENND2B, 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-LET-7F-1-3P	100.00	74.02	3928
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6766-5P	99.68	67.70	2325

Literature-anchored findings (GeneRIF, showing 5)

• Using RNA in situ hybridisation in mouse, the authors found that St5 is expressed in the frontal cortex during embryonic development. In adult mouse brain, expression of St5 was especially high in the hippocampal area and cerebellum. (PMID:19843505)
• DENND2B interacts with the Rab13 effector MICAL-L2 at the cell periphery, and this interaction is required for the dynamic remodeling of the cell’s leading edge. (PMID:25713415)
• Here, we discover that intersectin-s binds DENND2B, a guanine nucleotide exchange factor for the exocytic GTPase Rab13, and this interaction promotes recycling of ligand-free EGFR to the cell surface. Our study thus reveals a novel mechanism controlling the fate of internalized EGFR with important implications for cancer. (PMID:29030480)
• Findings provide evidence of suppression of tumorigenicity 5 (ST5) involvement in positive regulation of osteoclastogenesis via src Kinases (Src)/Syk Kinase (Syk)/calcium signaling. (PMID:31707778)
• DENND2B activates Rab35 at the intercellular bridge, regulating cytokinetic abscission and tetraploidy. (PMID:37454296)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dennd2b	ENSDARG00000037363
mus_musculus	Dennd2b	ENSMUSG00000031024
rattus_norvegicus	Dennd2b	ENSRNOG00000013934

Paralogs (3): DENND2A (ENSG00000146966), DENND2D (ENSG00000162777), DENND2C (ENSG00000175984)

Protein

Protein identifiers

DENN domain-containing protein 2B — P78524 (reviewed: P78524)

Alternative names: HeLa tumor suppression 1, Suppression of tumorigenicity 5 protein

All UniProt accessions (36): B4DDL8, E9PI58, E9PI67, E9PI72, E9PII1, E9PJC3, E9PJP0, E9PJY5, E9PK36, E9PKE0, P78524, E9PKM1, E9PKN3, E9PKV3, E9PLB6, E9PLD7, E9PLH5, E9PLH6, E9PLR2, E9PM32, E9PM84, E9PME1, E9PMJ9, E9PMP1, E9PN93, E9PNM8, E9PNX7, E9PPL2, E9PPS6, E9PQA9, E9PQM5, E9PQU6, E9PRS6, H0YD60, H0YDL0, H0YE59

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane. Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May block ERK2 activation stimulated by ABL1. May alter cell morphology and cell growth.

Subunit / interactions. Interacts with ITSN1 and GRB2. Isoform 1 interacts with the SH3 domain of ABL1.

Subcellular location. Cytoplasm. Cell cortex. Cell membrane. Recycling endosome.

Tissue specificity. Widely expressed with the exception of peripheral blood lymphocytes. Isoform 1 is expressed in several epithelial and fibroblast (including tumorigenic) but absent in lymphoid cell lines (at protein level). Isoform 3 is expressed in primary cell or weakly tumorigenic but not in tumorigenic cell lines (at protein level).

Post-translational modifications. Phosphorylated. Phosphorylation decreases ITSN1 binding.

Miscellaneous. Produced by alternative promoter usage. Produced by alternative splicing of isoform 1. Produced by alternative promoter usage.

Isoforms (3)

UniProt ID	Names	Canonical?
P78524-1	1, p126	yes
P78524-2	2, p82
P78524-3	3, p70

RefSeq proteins (15): NP_001363424, NP_001363425, NP_001363426, NP_001363427, NP_001363428, NP_001363429, NP_001363430, NP_001363431, NP_001363432, NP_001363433, NP_001363434, NP_001363435, NP_005409, NP_631896, NP_998783* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001194	cDENN_dom	Domain
IPR005112	dDENN_dom	Domain
IPR005113	uDENN_dom	Domain
IPR037516	Tripartite_DENN	Domain
IPR043153	DENN_C	Homologous_superfamily
IPR051942	DENN_domain_containing_2	Family

Pfam: PF02141, PF03455, PF03456

UniProt features (40 total): compositionally biased region 14, modified residue 10, sequence variant 5, region of interest 4, domain 3, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78524-F1	58.86	0.26

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 (10): 30, 32, 231, 233, 364, 368, 482, 545, 574, 622

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 212 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, RNGTGGGC_UNKNOWN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MAZ_Q6, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, MODULE_493, TGACCTY_ERR1_Q2, FOXO4_01, REACTOME_MEMBRANE_TRAFFICKING, TOMLINS_PROSTATE_CANCER_DN, GTACAGG_MIR486, BILD_HRAS_ONCOGENIC_SIGNATURE, BROWNE_HCMV_INFECTION_48HR_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (1): positive regulation of ERK1 and ERK2 cascade (GO:0070374)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), cell cortex (GO:0005938), recycling endosome (GO:0055037), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell periphery	2
cellular anatomical structure	2
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
membrane	1
cytoplasm	1
endosome	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

56 interactions, top by confidence:

A	B	Type	Score
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
DENND2B	WFS1	psi-mi:“MI:0915”(physical association)	0.560
HTT	DENND2B	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
DENND2B	SFN	psi-mi:“MI:0915”(physical association)	0.540
YWHAE	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
YES1	DENND2B	psi-mi:“MI:0407”(direct interaction)	0.440
DENND2B	HNRNPC	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
DENND2B	ABL1	psi-mi:“MI:0915”(physical association)	0.400
DENND2B	GRB2	psi-mi:“MI:0915”(physical association)	0.400
DENND2B	SMAD2	psi-mi:“MI:0915”(physical association)	0.370
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LLGL2	RBBP6	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (38): ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-MS), ST5 (Affinity Capture-RNA), ST5 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3NFE2, A0FI79, A1A5B6, A4D2P6, D7PF45, F1LXF1, O15357, O60346, O75808, P11274, P49796, P52734, P53349, P59672, P70268, P78524, P98174, Q0QWG9, Q13233, Q13905, Q16825, Q3MII6, Q50H33, Q5RDA9, Q62925, Q63433, Q6NS60, Q6P549, Q6PDJ6, Q6WVG3, Q7Z5H3, Q8BL80, Q8BUP8, Q8N2R8, Q8TF61, Q8VHK2, Q8WXD9, Q924W7, Q92625, Q96CX2

Diamond homologs: E9PXF8, G2WWH6, I1RQE2, O02626, O75064, O95248, P78524, Q3U1T9, Q3U1Y4, Q5VZ89, Q68D51, Q68F67, Q6NTN5, Q6P3S1, Q6ZPE2, Q7Z401, Q86WG5, Q8C4S8, Q8CFK6, Q8IV53, Q8K382, Q8TEH3, Q91VV4, Q924W7, Q9H6A0, Q9TXP3, Q9ULE3, Q9Y7Q7, X0JZ91, A6H8H2, O08873, Q6NXD8, Q80U28, Q8WXG6, Q9VXY2, Q9W3D3, Q6P9P8, Q6ZUT9, A2RSQ0, C8YR32

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 60 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
Activation of BAD and translocation to mitochondria	7	140.2×	2e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	123.8×	4e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	123.8×	4e-12
Activation of BH3-only proteins	7	91.5×	4e-11
RHO GTPases activate PKNs	9	75.1×	7e-13
Intrinsic Pathway for Apoptosis	7	53.9×	2e-09
FOXO-mediated transcription	6	53.0×	4e-08
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	32.5×	4e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	39.0×	8e-05
intracellular protein localization	7	15.6×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	176
Likely benign	9
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

6016 predictions. Top by Δscore:

Variant	Effect	Δscore
11:8694131:C:CC	acceptor_gain	1.0000
11:8694132:T:A	acceptor_loss	1.0000
11:8694139:C:CT	acceptor_gain	1.0000
11:8694139:C:T	acceptor_gain	1.0000
11:8694140:A:T	acceptor_gain	1.0000
11:8695458:CTTA:C	donor_loss	1.0000
11:8695459:TTA:T	donor_loss	1.0000
11:8695460:TACCC:T	donor_loss	1.0000
11:8695461:A:AC	donor_gain	1.0000
11:8695461:A:T	donor_loss	1.0000
11:8695461:AC:A	donor_gain	1.0000
11:8695462:C:A	donor_loss	1.0000
11:8695462:C:CG	donor_gain	1.0000
11:8695462:CC:C	donor_gain	1.0000
11:8695462:CCCAA:C	donor_gain	1.0000
11:8695545:AAGGC:A	acceptor_gain	1.0000
11:8695546:AGGC:A	acceptor_gain	1.0000
11:8695547:GGC:G	acceptor_gain	1.0000
11:8695548:GC:G	acceptor_gain	1.0000
11:8695549:CC:C	acceptor_gain	1.0000
11:8695550:C:CA	acceptor_loss	1.0000
11:8695550:C:CC	acceptor_gain	1.0000
11:8695550:C:T	acceptor_gain	1.0000
11:8695551:T:C	acceptor_loss	1.0000
11:8695554:G:C	acceptor_gain	1.0000
11:8695554:G:GC	acceptor_gain	1.0000
11:8695564:C:CT	acceptor_gain	1.0000
11:8695565:A:T	acceptor_gain	1.0000
11:8696420:GACTT:G	donor_loss	1.0000
11:8696421:ACTT:A	donor_loss	1.0000

AlphaMissense

7418 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:8697611:G:C	P989R	1.000
11:8699262:C:T	G950D	1.000
11:8699263:C:G	G950R	1.000
11:8699313:A:G	L933P	1.000
11:8699338:A:G	W925R	1.000
11:8699338:A:T	W925R	1.000
11:8707106:G:C	F850L	1.000
11:8707106:G:T	F850L	1.000
11:8707108:A:G	F850L	1.000
11:8707140:G:T	P839Q	1.000
11:8707807:G:C	S800R	1.000
11:8707807:G:T	S800R	1.000
11:8707809:T:G	S800R	1.000
11:8707816:A:C	C797W	1.000
11:8707817:C:T	C797Y	1.000
11:8707818:A:G	C797R	1.000
11:8710852:C:G	R782P	1.000
11:8710857:G:C	C780W	1.000
11:8710858:C:T	C780Y	1.000
11:8710859:A:G	C780R	1.000
11:8710864:C:T	G778D	1.000
11:8710894:A:G	L768P	1.000
11:8710900:A:G	F766S	1.000
11:8710905:A:C	F764L	1.000
11:8710905:A:T	F764L	1.000
11:8710907:A:G	F764L	1.000
11:8711163:G:C	F747L	1.000
11:8711163:G:T	F747L	1.000
11:8711164:A:G	F747S	1.000
11:8711165:A:G	F747L	1.000

dbSNP variants (sampled 300 via entrez): RS1000007239 (11:8892678 C>T), RS1000008231 (11:8718642 A>C), RS1000014194 (11:8750123 A>T), RS1000017649 (11:8756156 G>A), RS1000027465 (11:8753561 T>C,G), RS1000047867 (11:8844222 A>AAC), RS1000066293 (11:8749846 A>C,G), RS1000075554 (11:8743135 A>C,T), RS1000084387 (11:8707756 A>C), RS1000084756 (11:8703556 T>G), RS1000088590 (11:8832610 T>G), RS1000089413 (11:8873860 G>A,T), RS1000096601 (11:8843937 G>A), RS1000112741 (11:8743580 A>G), RS1000114617 (11:8796331 C>G)

Disease associations

OMIM: gene MIM:140750 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

48 associations (top):

Study	Trait	p-value
GCST002563_1	Hypospadias	1.000000e-06
GCST003995_28	Tonsillectomy	7.000000e-09
GCST004601_152	Red blood cell count	3.000000e-13
GCST004603_57	Platelet count	7.000000e-19
GCST004604_63	Hematocrit	6.000000e-16
GCST004607_125	Plateletcrit	1.000000e-15
GCST004611_176	High light scatter reticulocyte count	3.000000e-12
GCST004612_113	High light scatter reticulocyte percentage of red cells	2.000000e-15
GCST004615_68	Hemoglobin concentration	3.000000e-17
GCST004619_201	Reticulocyte fraction of red cells	4.000000e-12
GCST004628_43	Immature fraction of reticulocytes	7.000000e-13
GCST005014_66	Tonsillectomy	7.000000e-09
GCST005950_10	Body mass index x sex x age interaction (4df test)	6.000000e-11
GCST005951_51	Body mass index	8.000000e-11
GCST005953_4	Body mass index (age <50)	4.000000e-11
GCST006288_114	Heel bone mineral density	8.000000e-06
GCST006288_28	Heel bone mineral density	2.000000e-15
GCST006288_725	Heel bone mineral density	2.000000e-12
GCST006624_84	Systolic blood pressure	2.000000e-09
GCST006979_617	Heel bone mineral density	5.000000e-31
GCST009184_8	Inferior parietal cortex volume	2.000000e-06
GCST010083_304	Hemoglobin levels	1.000000e-20
GCST010083_80	Hemoglobin levels	2.000000e-22
GCST010703_171	Brain morphology (MOSTest)	5.000000e-09
GCST010727_25	Deep white matter hyperintensities	2.000000e-06
GCST011037_4	Parkinson’s disease progression (cognitive)	4.000000e-06
GCST011346_64	Total cholesterol levels	4.000000e-08
GCST012229_138	Hip index	7.000000e-09
GCST90002383_499	Hematocrit	2.000000e-12
GCST90002383_525	Hematocrit	4.000000e-10

EFO canonical traits (20, from GWAS)

EFO ID	Trait name
EFO:0007924	tonsillectomy risk measurement
EFO:0004305	erythrocyte count
EFO:0004309	platelet count
EFO:0004348	hematocrit
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0004509	hemoglobin measurement
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009270	heel bone mineral density
EFO:0006335	systolic blood pressure
EFO:0004346	neuroimaging measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0008336	disease progression measurement
EFO:0004574	total cholesterol measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0005091	monocyte count
EFO:0004833	neutrophil count
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

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

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	increases abundance, decreases expression	2
dicrotophos	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sulforaphane	decreases expression	1
zinc chloride	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression, increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methapyrilene	decreases methylation	1
Selenium	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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