KLF16

Summary

KLF16 (KLF transcription factor 16, HGNC:16857) is a protein-coding gene on chromosome 19p13.3, encoding Krueppel-like factor 16 (Q9BXK1). Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. It is a selective cancer dependency (DepMap: 22.6% of cell lines).

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within G protein-coupled dopamine receptor signaling pathway. Predicted to be located in chromatin.

Source: NCBI Gene 83855 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 53 total
• Cancer dependency (DepMap): dependent in 22.6% of screened cell lines
• MANE Select transcript: NM_031918

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16857
Approved symbol	KLF16
Name	KLF transcription factor 16
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	NSLP2, BTEB4, DRRF
Ensembl gene	ENSG00000129911
Ensembl biotype	protein_coding
OMIM	606139
Entrez	83855

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000250916, ENST00000541015, ENST00000592313, ENST00000617223

RefSeq mRNA: 1 — MANE Select: NM_031918 NM_031918

CCDS: CCDS12075

Canonical transcript exons

ENST00000250916 — 2 exons

Exon	Start	End
ENSE00001151359	1852399	1854760
ENSE00001239478	1863041	1863579

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 91.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.6452 / max 372.1579, expressed in 1814 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178080	33.2549	1811
178081	8.2026	1748
178079	0.1877	72

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	91.08	gold quality
putamen	UBERON:0001874	90.55	gold quality
caudate nucleus	UBERON:0001873	90.08	gold quality
nasal cavity epithelium	UBERON:0005384	89.25	gold quality
granulocyte	CL:0000094	88.04	gold quality
anterior cingulate cortex	UBERON:0009835	87.99	gold quality
amygdala	UBERON:0001876	86.87	gold quality
leukocyte	CL:0000738	86.17	gold quality
monocyte	CL:0000576	86.15	gold quality
right frontal lobe	UBERON:0002810	86.13	gold quality
prefrontal cortex	UBERON:0000451	85.83	gold quality
heart right ventricle	UBERON:0002080	85.72	gold quality
cerebellar vermis	UBERON:0004720	84.99	gold quality
mucosa of transverse colon	UBERON:0004991	84.58	gold quality
kidney epithelium	UBERON:0004819	84.45	gold quality
neocortex	UBERON:0001950	84.28	gold quality
myocardium	UBERON:0002349	84.28	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.16	gold quality
frontal cortex	UBERON:0001870	84.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.10	gold quality
forebrain	UBERON:0001890	83.88	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.78	gold quality
blood	UBERON:0000178	83.67	gold quality
Ammon’s horn	UBERON:0001954	83.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	83.19	gold quality
cerebral cortex	UBERON:0000956	83.16	gold quality
vena cava	UBERON:0004087	82.94	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.92	gold quality
nipple	UBERON:0002030	82.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.36

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
AP1
CDKN1A	Repression
CYP1A1	Repression
DRD1
DRD2	Repression
KLF16	Unknown

JASPAR motifs

Motif	Name	Family
MA0741.1	KLF16	Three-zinc finger Kruppel-related

JASPAR matrix evidence (PMIDs): PMID:16266294

Upstream regulators (CollecTRI, top): AP1, JUN, KLF16, SP1, TFAP2A

miRNA regulators (miRDB)

62 targeting KLF16, 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-4692	100.00	67.32	2066
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-6731-5P	99.28	67.42	2375

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• protein analysis of BTEB3 and BTEB4 and their binding to CYP1A1 (PMID:12036432)
• Detailed structural-functional analysis of the Kruppel-like factor 16 (KLF16) transcription factor reveals novel mechanisms for silencing Sp/KLF sites involved in metabolism and endocrinology. (PMID:22203677)
• KLF16 is a key regulator of glioma cell proliferation by directly targeting TFAM (PMID:29374989)
• KLF16 overexpression deleteriously affects the proliferation and migration of retinoblastoma by transcriptionally repressing BCL2L15. (PMID:32819608)
• circSLC8A1 sponges miR-671 to regulate breast cancer tumorigenesis via PTEN/PI3k/Akt pathway. (PMID:33301895)
• PRKD3 promotes malignant progression of OSCC by downregulating KLF16 expression. (PMID:33378018)
• Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS. (PMID:33686288)
• Silencing KLF16 inhibits oral squamous cell carcinoma cell proliferation by arresting the cell cycle and inducing apoptosis. (PMID:34779529)
• KLF16 enhances stress tolerance of colorectal carcinomas by modulating nucleolar homeostasis and translational reprogramming. (PMID:35524408)
• Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer. (PMID:35796007)
• circFOXO3 Induced by KLF16 Modulates Clear Cell Renal Cell Carcinoma Growth and Natural Killer Cell Cytotoxic Activity through Sponging miR-29a-3p and miR-122-5p. (PMID:36072902)
• SF3B4 promotes Twist1 expression and clear cell renal cell carcinoma progression by facilitating the export of KLF 16 mRNA from the nucleus to the cytoplasm. (PMID:36639679)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	klf13	ENSDARG00000061368
danio_rerio	zgc:153115	ENSDARG00000069342
mus_musculus	Klf16	ENSMUSG00000035397
drosophila_melanogaster	luna	FBGN0040765

Paralogs (22): KLF6 (ENSG00000067082), KLF8 (ENSG00000102349), KLF5 (ENSG00000102554), KLF1 (ENSG00000105610), KLF3 (ENSG00000109787), KLF7 (ENSG00000118263), KLF12 (ENSG00000118922), KLF9 (ENSG00000119138), KLF2 (ENSG00000127528), KLF4 (ENSG00000136826), KLF10 (ENSG00000155090), KLF15 (ENSG00000163884), SP8 (ENSG00000164651), KLF13 (ENSG00000169926), SP7 (ENSG00000170374), KLF17 (ENSG00000171872), KLF11 (ENSG00000172059), SP6 (ENSG00000189120), SP5 (ENSG00000204335), SP9 (ENSG00000217236), KLF14 (ENSG00000266265), KLF18 (ENSG00000283039)

Protein

Protein identifiers

Krueppel-like factor 16 — Q9BXK1 (reviewed: Q9BXK1)

Alternative names: Basic transcription element-binding protein 4, Novel Sp1-like zinc finger transcription factor 2, Transcription factor BTEB4, Transcription factor NSLP2

All UniProt accessions (2): A0A087WWX5, Q9BXK1

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain.

Subcellular location. Nucleus.

Similarity. Belongs to the Sp1 C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_114124* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096

UniProt features (13 total): compositionally biased region 4, zinc finger region 3, region of interest 3, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXK1-F1	62.32	0.00

Functional residue map

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

Post-translational modifications (2): 99, 152

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9839394	TGFBR3 expression
R-HSA-162582	Signal Transduction
R-HSA-9006936	Signaling by TGFB family members
R-HSA-9839373	Signaling by TGFBR3

MSigDB gene sets: 76 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, SP3_Q3, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, SP1_Q2_01, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, EGR1_01, GOBP_G_PROTEIN_COUPLED_DOPAMINE_RECEPTOR_SIGNALING_PATHWAY, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), G protein-coupled dopamine receptor signaling pathway (GO:0007212), negative regulation of transcription by RNA polymerase II (GO:0000122)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by TGFBR3	1
Signal Transduction	1
Signaling by TGFB family members	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
synaptic transmission, dopaminergic	1
G protein-coupled receptor signaling pathway	1
cellular response to dopamine	1
negative regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1186 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLF16	SIN3A	Q96ST3	631
KLF16	MSANTD2	Q6P1R3	533
KLF16	ZNF740	Q8NDX6	420
KLF16	CTBP1	Q13363	404
KLF16	CTBP2	P56545	401
KLF16	ZNF274	Q96GC6	390
KLF16	TFAP2C	Q92754	385
KLF16	EGR1	P18146	273
KLF16	INTS15	Q96N11	269
KLF16	POU6F1	Q14863	263
KLF16	TFDP1	Q14186	251
KLF16	SIN3B	O75182	250
KLF16	PKNOX1	P55347	246
KLF16	LCORL	Q8N3X6	246
KLF16	MITD1	Q8WV92	242

IntAct

38 interactions, top by confidence:

A	B	Type	Score
HDAC7	KLF16	psi-mi:“MI:0915”(physical association)	0.560
BPGM	FLYWCH2	psi-mi:“MI:0914”(association)	0.530
NFIA	KLF16	psi-mi:“MI:0915”(physical association)	0.470
NFIB	KLF16	psi-mi:“MI:0915”(physical association)	0.400
NFIC	KLF16	psi-mi:“MI:0915”(physical association)	0.400
Snw1	AKR7A2	psi-mi:“MI:0914”(association)	0.350
CTR9	POLR2B	psi-mi:“MI:0914”(association)	0.350
Gpsm1	OARD1	psi-mi:“MI:0914”(association)	0.350
Tnpo1	CCHCR1	psi-mi:“MI:0914”(association)	0.350
Ube2k	ZFTRAF1	psi-mi:“MI:0914”(association)	0.350
Map3k12	MTOR	psi-mi:“MI:0914”(association)	0.350
HUWE1	NCOA4	psi-mi:“MI:0914”(association)	0.350
HSP90B1	DERL1	psi-mi:“MI:0914”(association)	0.350
ZBTB33	SF3B1	psi-mi:“MI:0914”(association)	0.350
CTDSPL2	ELOC	psi-mi:“MI:0914”(association)	0.350
THOC5	MYO1G	psi-mi:“MI:0914”(association)	0.350
TMEM132A	WWP2	psi-mi:“MI:0914”(association)	0.350
NASP	DONSON	psi-mi:“MI:0914”(association)	0.350
Nrip2		psi-mi:“MI:0914”(association)	0.350
POLK	TIA1	psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
YEATS4	ING3	psi-mi:“MI:0914”(association)	0.350
FOXA3	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXJ2	TCERG1	psi-mi:“MI:0914”(association)	0.350
ENG	IGKV2-28	psi-mi:“MI:0914”(association)	0.350
KLF16		psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	POLR3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (458): KLF16 (Affinity Capture-MS), KLF16 (Synthetic Growth Defect), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS), KLF16 (Affinity Capture-MS)

ESM2 similar proteins: A2A288, A2A699, A2AEV7, A2ARS0, A5PKW4, A6NIX2, A8MVW0, B2RXF5, C9JTQ0, D3ZG83, E1BKA3, F1MUS9, O09039, O14559, O43900, O75427, P98077, Q02779, Q16584, Q18PE0, Q1JQB5, Q2M3V2, Q3U0S6, Q53LP3, Q5BJT1, Q5U2Z2, Q5U651, Q66HA1, Q66L42, Q6NY19, Q6ZUM4, Q7TQJ8, Q80VL3, Q80VM4, Q80XI6, Q8BLS7, Q8NCA9, Q91XC0, Q96FS4, Q96HB5

Diamond homologs: A1C6L9, A1DH89, A2QCJ9, B0XSK6, B8NGC8, G4N3L5, K9GKQ6, O14335, O74252, O94166, P08047, P0CG40, P10069, P13574, P27705, P43079, P46099, P58334, P78871, Q01981, Q05620, Q08400, Q0VA40, Q13351, Q14V87, Q19A40, Q22678, Q24266, Q3SY56, Q4WRE4, Q4X0Z3, Q5AMH6, Q5XGT8, Q62511, Q64HY3, Q64HY5, Q6BEB4, Q6NW96, Q6P0J3, Q8BMJ8

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	KLF16	phosphorylation
KLF16	“up-regulates activity”	SIN3A	binding
SRC_kinase_family	“up-regulates activity”	KLF16	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 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
Processing of Capped Intron-Containing Pre-mRNA	5	12.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
DNA replication	6	23.1×	9e-05
RNA splicing	6	12.3×	1e-03
mRNA processing	6	11.0×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

747 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1854761:C:CC	acceptor_gain	1.0000
19:1863036:CTCA:C	donor_loss	1.0000
19:1863037:TCA:T	donor_loss	1.0000
19:1863038:CA:C	donor_loss	1.0000
19:1854756:TTCCC:T	acceptor_gain	0.9900
19:1854757:TCCC:T	acceptor_gain	0.9900
19:1854758:CCC:C	acceptor_gain	0.9900
19:1854758:CCCC:C	acceptor_gain	0.9900
19:1854759:CC:C	acceptor_gain	0.9900
19:1854759:CCC:C	acceptor_gain	0.9900
19:1854760:CC:C	acceptor_gain	0.9900
19:1854766:C:CT	acceptor_gain	0.9900
19:1863039:A:AC	donor_gain	0.9900
19:1863039:AC:A	donor_gain	0.9900
19:1863040:C:CC	donor_gain	0.9900
19:1863040:CC:C	donor_gain	0.9900
19:1863040:CCT:C	donor_gain	0.9900
19:1863040:CCTG:C	donor_gain	0.9900
19:1863040:CCTGT:C	donor_gain	0.9900
19:1854767:G:T	acceptor_gain	0.9800
19:1854761:C:T	acceptor_gain	0.9700
19:1854774:C:CT	acceptor_gain	0.9400
19:1855664:T:TA	donor_gain	0.9400
19:1855847:CTGG:C	donor_gain	0.9400
19:1856877:C:A	donor_gain	0.9400
19:1856036:G:C	donor_gain	0.9300
19:1854757:TCCCC:T	acceptor_gain	0.9200
19:1854758:CCCCT:C	acceptor_gain	0.9200
19:1855980:C:A	donor_gain	0.9200
19:1855606:G:A	donor_gain	0.9100

AlphaMissense

1583 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1854630:G:C	F196L	1.000
19:1854630:G:T	F196L	1.000
19:1854631:A:G	F196S	1.000
19:1854632:A:G	F196L	1.000
19:1854653:A:G	C189R	1.000
19:1854675:G:C	H181Q	1.000
19:1854675:G:T	H181Q	1.000
19:1854677:G:C	H181D	1.000
19:1854687:G:C	H177Q	1.000
19:1854687:G:T	H177Q	1.000
19:1854689:G:C	H177D	1.000
19:1854689:G:T	H177N	1.000
19:1854714:G:C	F168L	1.000
19:1854714:G:T	F168L	1.000
19:1854715:A:C	F168C	1.000
19:1854715:A:G	F168S	1.000
19:1854716:A:G	F168L	1.000
19:1854747:A:C	F157L	1.000
19:1854747:A:T	F157L	1.000
19:1854749:A:G	F157L	1.000
19:1863045:G:C	H151Q	1.000
19:1863045:G:T	H151Q	1.000
19:1863047:G:C	H151D	1.000
19:1863057:G:C	H147Q	1.000
19:1863057:G:T	H147Q	1.000
19:1863059:G:C	H147D	1.000
19:1863059:G:T	H147N	1.000
19:1854603:G:C	H205Q	0.999
19:1854603:G:T	H205Q	0.999
19:1854605:G:C	H205D	0.999

dbSNP variants (sampled 300 via entrez): RS1000034171 (19:1852597 T>C), RS1000063782 (19:1854368 G>A), RS1000090858 (19:1862780 T>A,C,G), RS1000123317 (19:1859177 C>T), RS1000259883 (19:1865484 C>T), RS1000273038 (19:1862960 G>A), RS1000431345 (19:1854884 G>A,C), RS1000638082 (19:1870990 T>C), RS1000658706 (19:1869132 A>C), RS1000679463 (19:1874724 A>G), RS1000708098 (19:1854654 G>A), RS1000770092 (19:1873713 G>A), RS1000774590 (19:1868853 G>A), RS1000795060 (19:1874930 G>A), RS1000866645 (19:1864425 G>A,C,T)

Disease associations

OMIM: gene MIM:606139 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST004602_257	Mean corpuscular volume	2.000000e-15
GCST004630_52	Mean corpuscular hemoglobin	2.000000e-12
GCST006479_14	Diverticular disease	8.000000e-06
GCST010988_11	Adult body size	3.000000e-11
GCST90002385_303	High light scatter reticulocyte count	5.000000e-18
GCST90002386_52	High light scatter reticulocyte percentage of red cells	2.000000e-22
GCST90002387_34	Immature fraction of reticulocytes	3.000000e-27
GCST90002390_511	Mean corpuscular hemoglobin	6.000000e-63
GCST90002392_50	Mean corpuscular volume	2.000000e-87
GCST90002396_7	Mean reticulocyte volume	4.000000e-99
GCST90002397_397	Mean spheric corpuscular volume	3.000000e-121
GCST90002398_98	Neutrophil count	1.000000e-09
GCST90002403_344	Red blood cell count	3.000000e-10
GCST90002403_345	Red blood cell count	3.000000e-18
GCST90002406_526	Reticulocyte fraction of red cells	5.000000e-12
GCST90002407_174	White blood cell count	3.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0009959	diverticular disease
EFO:0007986	reticulocyte count
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	3
Air Pollutants	increases abundance, increases oxidation, affects expression, decreases expression, affects cotreatment	3
Arsenic	affects cotreatment, increases abundance, increases expression, increases methylation	2
Estradiol	increases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
Valproic Acid	increases expression, increases methylation	2
Volatile Organic Compounds	affects cotreatment, increases oxidation, affects expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
lead acetate	increases expression	1
methylparaben	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
cupric chloride	increases expression	1
perfluorodecanoic acid	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
avobenzone	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Amiodarone	increases expression	1
Benzo(a)pyrene	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A3P9	SEES3-1V human KLF16, clone1	Embryonic stem cell	Male
CVCL_A3Q0	SEES3-1V human KLF16, clone2	Embryonic stem cell	Male
CVCL_A3Q1	SEES3-1V human KLF16, clone3	Embryonic stem cell	Male
CVCL_XV70	HEK293 eGFP-KLF16	Transformed cell line	Female

Clinical trials (associated diseases)

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