DMTF1

Summary

DMTF1 (cyclin D binding myb like transcription factor 1, HGNC:14603) is a protein-coding gene on chromosome 7q21.12, encoding Cyclin-D-binding Myb-like transcription factor 1 (Q9Y222). Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest.

This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9988 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 114 total — 1 pathogenic
• Phenotypes (HPO): 40
• Transcription factor: yes — 20 downstream targets (CollecTRI)
• MANE Select transcript: NM_001142327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14603
Approved symbol	DMTF1
Name	cyclin D binding myb like transcription factor 1
Location	7q21.12
Locus type	gene with protein product
Status	Approved
Aliases	DMP1, DMTF, hDMP1, MRUL
Ensembl gene	ENSG00000135164
Ensembl biotype	protein_coding
OMIM	608491
Entrez	9988

Gene structure

Transcript identifiers

Ensembl transcripts: 54 — 36 protein_coding, 7 nonsense_mediated_decay, 7 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000331242, ENST00000394703, ENST00000412139, ENST00000413276, ENST00000414630, ENST00000420131, ENST00000423590, ENST00000425406, ENST00000425705, ENST00000428819, ENST00000430405, ENST00000432366, ENST00000432937, ENST00000434534, ENST00000446796, ENST00000447863, ENST00000448598, ENST00000449088, ENST00000453049, ENST00000454008, ENST00000473521, ENST00000480982, ENST00000488352, ENST00000547146, ENST00000578926, ENST00000579592, ENST00000579677, ENST00000579850, ENST00000580010, ENST00000580710, ENST00000580803, ENST00000582204, ENST00000582887, ENST00000582925, ENST00000583751, ENST00000583833, ENST00000584457, ENST00000584619, ENST00000872049, ENST00000872050, ENST00000872051, ENST00000872052, ENST00000872053, ENST00000872054, ENST00000872055, ENST00000931082, ENST00000931083, ENST00000931084, ENST00000931085, ENST00000953526, ENST00000953527, ENST00000953528, ENST00000953529, ENST00000953530

RefSeq mRNA: 3 — MANE Select: NM_001142327 NM_001142326, NM_001142327, NM_021145

CCDS: CCDS47633, CCDS5601

Canonical transcript exons

ENST00000331242 — 18 exons

Exon	Start	End
ENSE00001302083	87163495	87163617
ENSE00001803996	87152453	87152555
ENSE00003483110	87185829	87185980
ENSE00003516786	87188092	87188301
ENSE00003531188	87173535	87173649
ENSE00003553420	87170995	87171089
ENSE00003557796	87193198	87193353
ENSE00003560448	87166483	87166605
ENSE00003578896	87193725	87194102
ENSE00003597804	87182228	87182337
ENSE00003602146	87194684	87194828
ENSE00003606407	87190945	87191027
ENSE00003616770	87164934	87165050
ENSE00003618693	87184397	87184625
ENSE00003633567	87174593	87174669
ENSE00003634850	87179545	87179702
ENSE00003636298	87181309	87181341
ENSE00003903170	87195031	87196325

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2900 / max 531.0837, expressed in 1815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79386	22.5072	1786
79389	5.8311	1472
79388	1.6781	698
79387	1.2779	813
79390	0.9957	560

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	98.34	gold quality
left lobe of thyroid gland	UBERON:0001120	98.32	gold quality
right ovary	UBERON:0002118	98.31	gold quality
left ovary	UBERON:0002119	98.28	gold quality
right uterine tube	UBERON:0001302	98.25	gold quality
body of uterus	UBERON:0009853	98.14	gold quality
calcaneal tendon	UBERON:0003701	98.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.95	gold quality
endocervix	UBERON:0000458	97.94	gold quality
thyroid gland	UBERON:0002046	97.94	gold quality
ventricular zone	UBERON:0003053	97.92	gold quality
tibial nerve	UBERON:0001323	97.91	gold quality
mucosa of stomach	UBERON:0001199	97.88	gold quality
colonic epithelium	UBERON:0000397	97.86	gold quality
cerebellar hemisphere	UBERON:0002245	97.73	gold quality
adenohypophysis	UBERON:0002196	97.67	gold quality
adrenal tissue	UBERON:0018303	97.67	gold quality
corpus callosum	UBERON:0002336	97.62	gold quality
cerebellar cortex	UBERON:0002129	97.59	gold quality
pituitary gland	UBERON:0000007	97.47	gold quality
right lung	UBERON:0002167	97.44	gold quality
ectocervix	UBERON:0012249	97.36	gold quality
body of pancreas	UBERON:0001150	97.34	gold quality
left uterine tube	UBERON:0001303	97.34	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.32	gold quality
left testis	UBERON:0004533	97.31	gold quality
right testis	UBERON:0004534	97.29	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.24	gold quality
metanephros cortex	UBERON:0010533	97.18	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.60
E-CURD-112	no	2.63

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

20 targets.

Target	Regulation
ADM	Activation
ANPEP
AREG	Activation
BCL3	Activation
BGLAP
CDKN1A	Activation
CDKN2A	Unknown
DMP1
DSPP	Activation
DUSP1
ECT2	Repression
EGR1	Activation
ERVK-6
GAS1	Repression
JUNB	Activation
KRAS
MBD1	Activation
NES
THBS1	Activation
TSC1

JASPAR motifs

Motif	Name	Family
MA2594.1	DMTF1	Myb-SANT

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

126 targeting DMTF1, 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-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-106A-5P	99.90	73.94	2683

Literature-anchored findings (GeneRIF, showing 14)

• hDMP1beta antagonizes hDMP1alpha activity and cellular functions of hDMP1 may be regulated by cellular hDMP1 isoform levels (PMID:12917399)
• Loss of heterozygosity (LOH) of the hDMP1 gene was detectable in approximately 35% of human lung carcinomas, which was found in mutually exclusive fashion with LOH of INK4a/ARF or that of P53. DMP1 is a pivotal tumor suppressor for human lung cancers. (PMID:17936562)
• WT1 downregulation during myeloid differentiation of NB4 and HL60 leukemic cell lines is associated with increased tumor repressor hDMP1 mRNA levels (PMID:17972942)
• new mechanism of p53 activation mediated by direct physical interaction between Dmp1 and p53. (PMID:22331460)
• LOH for hDMP1 was associated with luminal A category and longer relapse-free survival (PMID:23045280)
• This study reveals a pivotal role of combined Dmp1 loss and cyclin D1 overexpression in breast cancer. (PMID:23938323)
• Low DMTF1 expression is associated with in bladder cancer. (PMID:25965824)
• findings imply that DMP1alpha- and beta-ratios are tightly regulated in hematopoietic cells and DMP1beta antagonizes DMP1alpha transcriptional regulation of ARF resulting in the alteration of cellular control with a gain in proliferation (PMID:26187004)
• Study demonstrated that an alternative cyclin D-binding myb-like transcription factor 1 (DMTF1) pre-mRNA splicing isoform, DMTF1 beta, is increasingly expressed in breast cancer and promotes mammary tumorigenesis in a transgenic mouse model. [review]. (PMID:28257090)
• Cisplatin sensitivity in breast cancer cells is associated with a DMTF1beta splice variant expression. (PMID:30100063)
• the results of the study demonstrated that miR6753p directly regulated the expression of DMTF1, which contributed to the further regulation of Colorectal cancer cell proliferation. (PMID:30592263)
• DMTF1 is hemizygously deleted in 35-42% of human cancers and is associated with longer survival. [review] (PMID:30599775)
• Survival of Lung Cancer Patients Dependent on the LOH Status for DMP1, ARF, and p53. (PMID:33120969)
• Mechanisms regulating DMTF1beta/gamma expression and their functional interplay with DMTF1alpha. (PMID:33367929)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dmtf1	ENSDARG00000025824
mus_musculus	Dmtf1	ENSMUSG00000042508
mus_musculus	Dmtf1l	ENSMUSG00000058670
rattus_norvegicus	Dmtf1	ENSRNOG00000005908
rattus_norvegicus	Dmtf1l2	ENSRNOG00000034183

Paralogs (6): CDC5L (ENSG00000096401), MYBL2 (ENSG00000101057), MYB (ENSG00000118513), TTF1 (ENSG00000125482), SNAPC4 (ENSG00000165684), MYBL1 (ENSG00000185697)

Protein

Protein identifiers

Cyclin-D-binding Myb-like transcription factor 1 — Q9Y222 (reviewed: Q9Y222)

Alternative names: Cyclin-D-interacting Myb-like protein 1

All UniProt accessions (19): A0A1D5RMP8, C9J4F7, C9J8Y5, C9JED5, C9JFR2, C9JGT5, C9JLR5, C9JVQ7, Q9Y222, C9JZZ6, C9K0K9, C9K0L9, E7EPA0, F8VXY9, H7C388, J3KRC1, J3QKU5, J3QLN9, J3QLW3

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest. Binds to the consensus sequence 5’-CCCG[GT]ATGT-3’. Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1.

Subunit / interactions. Interacts with the D-type cyclins CCND1, CCND2 and CCND3. Interaction with D-type cyclins may modulate transcriptional activation by this protein.

Subcellular location. Nucleus.

Tissue specificity. Expressed at relatively low levels in colonic mucosa, ovary, peripheral leukocytes, prostate and small intestine, and at higher levels in spleen, testis and thymus. Expressed in multiple regions of the brain and CNS including amygdala, caudate, corpus callosum, hippocampus, substantia nigra and subthalamic nucleus. Isoform 1 is the predominant isoform in monocytes, macrophages and neutrophils, isoform 2 is most strongly expressed in peripheral blood leukocytes and quiescent CD34 positive cells, and isoform 3 is expressed at low levels in all hematopoietic cell types. Expression is frequently reduced in non-small-cell lung carcinomas (NSCLC) due to hemizygous gene deletion, strongly suggesting that this locus is haploinsufficient for tumor suppression. Loss of this locus frequently occurs in tumors which retain wild-type CDKN2A/ARF and p53/TP53 loci. Hemizygous gene deletion has also been observed in leukemic blasts from patients with abnormalities of the long arm of chromosome 7.

Post-translational modifications. Phosphorylated by the cyclin-D2/CDK4, cyclin-D3/CDK4 and cyclin-D2/CDK6 complexes and to a lesser extent by the cyclin-D1/CDK4 complex.

Similarity. Belongs to the DMTF1 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9Y222-1	1, Alpha	yes
Q9Y222-2	2, Beta
Q9Y222-3	3, Gamma
Q9Y222-4	4
Q9Y222-5	5

RefSeq proteins (3): NP_001135798, NP_001135799, NP_066968 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017930	Myb_dom	Domain
IPR046775	DMTF1_N	Domain
IPR051651	DMTF1_DNA-bind_reg	Family

Pfam: PF00249, PF20588

UniProt features (24 total): region of interest 7, splice variant 6, domain 3, helix 3, sequence conflict 2, chain 1, sequence variant 1, DNA-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2LLK	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y222-F1	53.56	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 388 (showing top): RNGTGGGC_UNKNOWN, BROWNE_HCMV_INFECTION_6HR_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GCM_ZNF198, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, RACCACAR_AML_Q6, GOBP_TOOTH_MINERALIZATION, BILD_SRC_ONCOGENIC_SIGNATURE, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, NKX61_01, GOBP_ANIMAL_ORGAN_MORPHOGENESIS

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (4): 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 factor activity (GO:0003700), DNA binding (GO:0003677)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
cellular anatomical structure	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
nucleic acid binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMTF1	CCND2	P30279	844
DMTF1	ANPEP	P15144	716
DMTF1	CCNL2	Q96S94	678
DMTF1	TMEM243	Q9BU79	601
DMTF1	RUNDC3B	Q96NL0	572
DMTF1	TP53	P04637	546
DMTF1	CDK4	P11802	522
DMTF1	CCND1	P24385	479
DMTF1	ARMC1	Q9NVT9	433
DMTF1	ABCB1	P08183	424
DMTF1	VMA22	Q96NT0	420
DMTF1	CD34	P28906	406
DMTF1	MATR3	P43243	386
DMTF1	TDRD3	Q9H7E2	382
DMTF1	A0A494BZU2	A0A494BZU2	368

IntAct

5 interactions, top by confidence:

A	B	Type	Score
DMTF1	KPNA4	psi-mi:“MI:0915”(physical association)	0.400
	DMTF1	psi-mi:“MI:0915”(physical association)	0.370
ATF7IP	DMTF1	psi-mi:“MI:0915”(physical association)	0.370
DMTF1		psi-mi:“MI:0915”(physical association)	0.000
clpB	DMTF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): DMTF1 (Reconstituted Complex), DMTF1 (Affinity Capture-RNA), DMTF1 (Reconstituted Complex), DMTF1 (Protein-RNA), DMTF1 (Protein-peptide), DMTF1 (Affinity Capture-RNA), TP53 (Affinity Capture-Western), DMTF1 (Affinity Capture-Western), SRA1 (Far Western)

ESM2 similar proteins: A6QQW0, B5DE69, E9Q7E2, O42478, O70230, O73630, O75179, P15337, P16220, P18846, P27699, P27925, P36508, P52747, P79145, P81069, P81269, P83038, Q00420, Q01147, Q03060, Q03061, Q04073, Q04727, Q06547, Q07141, Q08DA8, Q0V8G2, Q1LYE3, Q1LZH5, Q1RMI3, Q4V8R6, Q52KB5, Q58DZ6, Q5U312, Q5XIU2, Q62441, Q63369, Q66HG1, Q68CP9

Diamond homologs: Q03237, Q66HG1, Q6DG03, Q8CE22, Q9Y222, Q0CRP6

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
DMTF1	“up-regulates quantity by expression”	ADM	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	AREG	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	BCL3	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	EGR1	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	JUNB	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	MBD1	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	THBS1	“transcriptional regulation”
DMTF1	“down-regulates quantity by repression”	GAS1	“transcriptional regulation”
DMTF1	“down-regulates quantity by repression”	ECT2	“transcriptional regulation”
DMTF1	“up-regulates quantity by expression”	DSPP	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	82
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	Pathogenic

SpliceAI

3527 predictions. Top by Δscore:

Variant	Effect	Δscore
4:87657079:GGTG:G	donor_loss	1.0000
4:87657080:GT:G	donor_loss	1.0000
4:87657081:T:A	donor_loss	1.0000
7:87152552:GGAA:G	donor_gain	1.0000
7:87152553:GAA:G	donor_gain	1.0000
7:87152553:GAAG:G	donor_gain	1.0000
7:87152556:G:GG	donor_gain	1.0000
7:87163493:A:AG	acceptor_gain	1.0000
7:87163494:G:GG	acceptor_gain	1.0000
7:87163494:GA:G	acceptor_gain	1.0000
7:87163494:GAGT:G	acceptor_gain	1.0000
7:87163614:CTAGG:C	donor_loss	1.0000
7:87163615:TAGGT:T	donor_loss	1.0000
7:87163616:AGGT:A	donor_loss	1.0000
7:87163618:G:GC	donor_loss	1.0000
7:87163619:TAAG:T	donor_loss	1.0000
7:87165022:G:T	donor_gain	1.0000
7:87165046:GAATG:G	donor_gain	1.0000
7:87165047:AATGG:A	donor_loss	1.0000
7:87165049:TGGT:T	donor_loss	1.0000
7:87165050:GGTAG:G	donor_loss	1.0000
7:87165052:T:A	donor_loss	1.0000
7:87166478:A:AG	acceptor_gain	1.0000
7:87166481:A:AG	acceptor_gain	1.0000
7:87166482:G:GG	acceptor_gain	1.0000
7:87166482:GAA:G	acceptor_gain	1.0000
7:87166606:G:GG	donor_gain	1.0000
7:87173518:A:AG	acceptor_gain	1.0000
7:87173519:C:G	acceptor_gain	1.0000
7:87173524:A:AG	acceptor_gain	1.0000

AlphaMissense

5025 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:87173607:T:A	W134R	1.000
7:87173607:T:C	W134R	1.000
7:87173608:G:C	W134S	1.000
7:87173609:G:C	W134C	1.000
7:87173609:G:T	W134C	1.000
7:87173610:T:C	F135L	1.000
7:87173611:T:C	F135S	1.000
7:87173611:T:G	F135C	1.000
7:87173612:T:A	F135L	1.000
7:87173612:T:G	F135L	1.000
7:87173628:A:G	K141E	1.000
7:87173630:G:C	K141N	1.000
7:87173630:G:T	K141N	1.000
7:87173638:T:C	L144P	1.000
7:87174601:T:A	W151R	1.000
7:87174601:T:C	W151R	1.000
7:87174602:G:C	W151S	1.000
7:87174603:G:C	W151C	1.000
7:87174603:G:T	W151C	1.000
7:87174610:G:A	G154R	1.000
7:87174610:G:C	G154R	1.000
7:87174610:G:T	G154W	1.000
7:87174611:G:A	G154E	1.000
7:87174611:G:T	G154V	1.000
7:87174616:T:A	W156R	1.000
7:87174616:T:C	W156R	1.000
7:87174617:G:C	W156S	1.000
7:87174618:G:C	W156C	1.000
7:87174618:G:T	W156C	1.000
7:87174628:G:A	E160K	1.000

dbSNP variants (sampled 300 via entrez): RS1000017535 (7:87175212 G>A), RS1000018308 (7:87169161 A>G), RS1000132908 (7:87176284 C>G), RS1000134646 (7:87167524 A>G), RS1000164273 (7:87152086 G>A), RS1000169029 (7:87193548 TTAGAA>T), RS1000197216 (7:87152839 C>A,T), RS1000267727 (7:87196087 G>A), RS1000380202 (7:87187843 CTTTTT>C,CTTTT,CTTTTTT), RS1000381016 (7:87173391 A>G), RS1000472371 (7:87151885 C>G), RS1000474624 (7:87169438 A>G), RS1000617353 (7:87152774 C>G,T), RS1000631427 (7:87152643 C>A,G,T), RS1000723940 (7:87195667 G>A)

Disease associations

OMIM: gene MIM:608491 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000117	Renal phosphate wasting
HP:0000407	Sensorineural hearing impairment
HP:0000684	Delayed eruption of teeth
HP:0001250	Seizure
HP:0001324	Muscle weakness
HP:0001363	Craniosynostosis
HP:0001510	Growth delay
HP:0002024	Malabsorption
HP:0002148	Hypophosphatemia
HP:0002652	Skeletal dysplasia
HP:0002653	Bone pain
HP:0002748	Rickets
HP:0002749	Osteomalacia
HP:0002812	Coxa vara
HP:0002814	Abnormality of the lower limb
HP:0002970	Genu varum
HP:0002982	Tibial bowing
HP:0003020	Enlargement of the wrists
HP:0003109	Hyperphosphaturia
HP:0003416	Spinal canal stenosis
HP:0003472	Hypocalcemic tetany
HP:0004322	Short stature
HP:0004576	Sclerotic vertebral endplates
HP:0004912	Hypophosphatemic rickets
HP:0005096	Distal femoral bowing
HP:0005764	Polyarticular arthritis
HP:0006463	Rickets of the lower limbs
HP:0008732	Renal hypophosphatemia
HP:0010639	Elevated alkaline phosphatase of bone origin

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000641_3	Bipolar disorder or major depressive disorder	1.000000e-06
GCST001462_1	Brachial circumference	7.000000e-06
GCST004946_82	Schizophrenia	3.000000e-10
GCST006803_16	Schizophrenia	4.000000e-14
GCST007201_294	Schizophrenia	2.000000e-07
GCST007201_73	Schizophrenia	3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Cyclosporine	increases expression	2
bisphenol F	decreases expression, affects cotreatment	1
oxybenzone	increases expression	1
bisphenol A	affects cotreatment, decreases expression	1
geraniol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
ochratoxin A	decreases acetylation, decreases expression	1
1-nitropyrene	increases expression	1
polyhexamethyleneguanidine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	decreases expression, affects cotreatment, increases expression	1
Silicon Dioxide	increases methylation	1
Testosterone	increases expression	1
Urethane	increases expression	1
Valproic Acid	decreases expression	1
Vitamin E	affects cotreatment, increases expression, decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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