Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	63976
Gene name	PR/SET domain 16
Gene symbol	PRDM16
Synonyms (NCBI Gene)	CMD1LLKMT8FLVNC8MEL1PFM13
Chromosome	1
Chromosome location	1p36.32
Summary	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-posi

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201517837	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201517929	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202115331	T>C	Pathogenic	Missense variant, coding sequence variant
rs368409902	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374365034	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374664141	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs375314464	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376567517	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs397514742	A>T	Pathogenic	Coding sequence variant, stop gained
rs397514743	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397514744	C>T	Pathogenic	Coding sequence variant, missense variant
rs538723120	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886041395	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057520188	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307663	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1287494453	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1553176765	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

239

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007382	hsa-miR-133b	Luciferase reporter assay	23395168
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23395168
MIRT027926	hsa-miR-96-5p	Sequencing	20371350
MIRT046957	hsa-miR-221-3p	CLASH	23622248
MIRT042704	hsa-miR-346	CLASH	23622248
MIRT040152	hsa-miR-615-3p	CLASH	23622248
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23874225
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23874225
MIRT734794	hsa-miR-330-5p	Luciferase reporter assayqRT-PCRIn situ hybridization	33517886
MIRT734795	hsa-miR-326	Luciferase reporter assayqRT-PCRIn situ hybridization	33517886
MIRT1260088	hsa-miR-1253	CLIP-seq
MIRT1260089	hsa-miR-1271	CLIP-seq
MIRT1260090	hsa-miR-1276	CLIP-seq
MIRT1260091	hsa-miR-1301	CLIP-seq
MIRT1260092	hsa-miR-139-5p	CLIP-seq
MIRT1260093	hsa-miR-182	CLIP-seq
MIRT1260094	hsa-miR-214	CLIP-seq
MIRT1260095	hsa-miR-302a	CLIP-seq
MIRT1260096	hsa-miR-302b	CLIP-seq
MIRT1260097	hsa-miR-302c	CLIP-seq
MIRT1260098	hsa-miR-302d	CLIP-seq
MIRT1260099	hsa-miR-302e	CLIP-seq
MIRT1260100	hsa-miR-3191	CLIP-seq
MIRT1260101	hsa-miR-331-3p	CLIP-seq
MIRT1260102	hsa-miR-339-3p	CLIP-seq
MIRT1260103	hsa-miR-3619-5p	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT1260107	hsa-miR-372	CLIP-seq
MIRT1260108	hsa-miR-373	CLIP-seq
MIRT1260109	hsa-miR-4327	CLIP-seq
MIRT1260110	hsa-miR-4725-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260112	hsa-miR-4732-3p	CLIP-seq
MIRT1260113	hsa-miR-4787-5p	CLIP-seq
MIRT1260114	hsa-miR-504	CLIP-seq
MIRT1260115	hsa-miR-5047	CLIP-seq
MIRT1260116	hsa-miR-519a	CLIP-seq
MIRT1260117	hsa-miR-519b-3p	CLIP-seq
MIRT1260118	hsa-miR-519c-3p	CLIP-seq
MIRT1260119	hsa-miR-520a-3p	CLIP-seq
MIRT1260120	hsa-miR-520b	CLIP-seq
MIRT1260121	hsa-miR-520c-3p	CLIP-seq
MIRT1260122	hsa-miR-520d-3p	CLIP-seq
MIRT1260123	hsa-miR-520e	CLIP-seq
MIRT1260124	hsa-miR-761	CLIP-seq
MIRT1260125	hsa-miR-96	CLIP-seq
MIRT1260126	hsa-miR-1252	CLIP-seq
MIRT1260127	hsa-miR-1275	CLIP-seq
MIRT1260090	hsa-miR-1276	CLIP-seq
MIRT1260128	hsa-miR-3064-5p	CLIP-seq
MIRT1260129	hsa-miR-3150b-3p	CLIP-seq
MIRT1260130	hsa-miR-3153	CLIP-seq
MIRT1260131	hsa-miR-3190	CLIP-seq
MIRT1260132	hsa-miR-3192	CLIP-seq
MIRT1260133	hsa-miR-3202	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT1260135	hsa-miR-3669	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260136	hsa-miR-4260	CLIP-seq
MIRT1260137	hsa-miR-4292	CLIP-seq
MIRT1260138	hsa-miR-4308	CLIP-seq
MIRT1260139	hsa-miR-4426	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT1260141	hsa-miR-4488	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT1260144	hsa-miR-4505	CLIP-seq
MIRT1260145	hsa-miR-4525	CLIP-seq
MIRT1260146	hsa-miR-4533	CLIP-seq
MIRT1260147	hsa-miR-4647	CLIP-seq
MIRT1260148	hsa-miR-4649-3p	CLIP-seq
MIRT1260149	hsa-miR-4662b	CLIP-seq
MIRT1260150	hsa-miR-4665-5p	CLIP-seq
MIRT1260151	hsa-miR-4668-5p	CLIP-seq
MIRT1260152	hsa-miR-4689	CLIP-seq
MIRT1260153	hsa-miR-4697-5p	CLIP-seq
MIRT1260154	hsa-miR-4723-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT1260156	hsa-miR-4747-5p	CLIP-seq
MIRT1260157	hsa-miR-4779	CLIP-seq
MIRT1260158	hsa-miR-4784	CLIP-seq
MIRT1260159	hsa-miR-503	CLIP-seq
MIRT1260160	hsa-miR-587	CLIP-seq
MIRT1260161	hsa-miR-615-5p	CLIP-seq
MIRT1260162	hsa-miR-625	CLIP-seq
MIRT1260163	hsa-miR-635	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT1260165	hsa-miR-765	CLIP-seq
MIRT2076586	hsa-miR-1207-5p	CLIP-seq
MIRT2076587	hsa-miR-1226	CLIP-seq
MIRT2076588	hsa-miR-1237	CLIP-seq
MIRT2076589	hsa-miR-1302	CLIP-seq
MIRT2076590	hsa-miR-1827	CLIP-seq
MIRT2076591	hsa-miR-299-5p	CLIP-seq
MIRT2076592	hsa-miR-3182	CLIP-seq
MIRT2076593	hsa-miR-342-5p	CLIP-seq
MIRT2076594	hsa-miR-3616-3p	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT2076595	hsa-miR-3940-5p	CLIP-seq
MIRT2076596	hsa-miR-4269	CLIP-seq
MIRT2076597	hsa-miR-4298	CLIP-seq
MIRT2076598	hsa-miR-4436b-3p	CLIP-seq
MIRT2076599	hsa-miR-4507	CLIP-seq
MIRT2076600	hsa-miR-4651	CLIP-seq
MIRT2076601	hsa-miR-4664-5p	CLIP-seq
MIRT2076602	hsa-miR-4763-3p	CLIP-seq
MIRT2076603	hsa-miR-513c	CLIP-seq
MIRT2076604	hsa-miR-514b-5p	CLIP-seq
MIRT2076605	hsa-miR-608	CLIP-seq
MIRT2076606	hsa-miR-629	CLIP-seq
MIRT2076607	hsa-miR-940	CLIP-seq
MIRT2303252	hsa-miR-1184	CLIP-seq
MIRT2303253	hsa-miR-1205	CLIP-seq
MIRT2076586	hsa-miR-1207-5p	CLIP-seq
MIRT2303254	hsa-miR-125a-3p	CLIP-seq
MIRT2303255	hsa-miR-1266	CLIP-seq
MIRT2303256	hsa-miR-1277	CLIP-seq
MIRT2303257	hsa-miR-128	CLIP-seq
MIRT2303258	hsa-miR-1285	CLIP-seq
MIRT2303259	hsa-miR-144	CLIP-seq
MIRT2076590	hsa-miR-1827	CLIP-seq
MIRT2303260	hsa-miR-1909	CLIP-seq
MIRT2303261	hsa-miR-1972	CLIP-seq
MIRT2303262	hsa-miR-199a-3p	CLIP-seq
MIRT2303263	hsa-miR-199b-3p	CLIP-seq
MIRT1260094	hsa-miR-214	CLIP-seq
MIRT2303264	hsa-miR-221	CLIP-seq
MIRT2303265	hsa-miR-222	CLIP-seq
MIRT2303266	hsa-miR-27a	CLIP-seq
MIRT2303267	hsa-miR-27b	CLIP-seq
MIRT2076591	hsa-miR-299-5p	CLIP-seq
MIRT1260128	hsa-miR-3064-5p	CLIP-seq
MIRT2303268	hsa-miR-3127-5p	CLIP-seq
MIRT2303269	hsa-miR-3129-5p	CLIP-seq
MIRT1260129	hsa-miR-3150b-3p	CLIP-seq
MIRT2303270	hsa-miR-3158-5p	CLIP-seq
MIRT2303271	hsa-miR-3160-5p	CLIP-seq
MIRT2303272	hsa-miR-3180-5p	CLIP-seq
MIRT2303273	hsa-miR-3187-5p	CLIP-seq
MIRT1260100	hsa-miR-3191	CLIP-seq
MIRT1260132	hsa-miR-3192	CLIP-seq
MIRT2076593	hsa-miR-342-5p	CLIP-seq
MIRT2303274	hsa-miR-34c-3p	CLIP-seq
MIRT2303275	hsa-miR-3614-5p	CLIP-seq
MIRT1260103	hsa-miR-3619-5p	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT2303276	hsa-miR-3664-3p	CLIP-seq
MIRT2303277	hsa-miR-3673	CLIP-seq
MIRT2303278	hsa-miR-3678-3p	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT2303279	hsa-miR-3690	CLIP-seq
MIRT2303280	hsa-miR-378	CLIP-seq
MIRT2303281	hsa-miR-378b	CLIP-seq
MIRT2303282	hsa-miR-378c	CLIP-seq
MIRT2303283	hsa-miR-378d	CLIP-seq
MIRT2303284	hsa-miR-378e	CLIP-seq
MIRT2303285	hsa-miR-378f	CLIP-seq
MIRT2303286	hsa-miR-378h	CLIP-seq
MIRT2303287	hsa-miR-378i	CLIP-seq
MIRT2303288	hsa-miR-3934	CLIP-seq
MIRT2076595	hsa-miR-3940-5p	CLIP-seq
MIRT2303289	hsa-miR-412	CLIP-seq
MIRT2303290	hsa-miR-422a	CLIP-seq
MIRT2303291	hsa-miR-4254	CLIP-seq
MIRT1260137	hsa-miR-4292	CLIP-seq
MIRT1260138	hsa-miR-4308	CLIP-seq
MIRT2303292	hsa-miR-4317	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT2303293	hsa-miR-4446-3p	CLIP-seq
MIRT2303294	hsa-miR-4464	CLIP-seq
MIRT2303295	hsa-miR-4468	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT1260144	hsa-miR-4505	CLIP-seq
MIRT2076599	hsa-miR-4507	CLIP-seq
MIRT2303296	hsa-miR-4518	CLIP-seq
MIRT2303297	hsa-miR-4522	CLIP-seq
MIRT2303298	hsa-miR-4650-5p	CLIP-seq
MIRT2076600	hsa-miR-4651	CLIP-seq
MIRT2303299	hsa-miR-4660	CLIP-seq
MIRT2076601	hsa-miR-4664-5p	CLIP-seq
MIRT2303300	hsa-miR-4685-5p	CLIP-seq
MIRT2303301	hsa-miR-4704-3p	CLIP-seq
MIRT2303302	hsa-miR-4716-3p	CLIP-seq
MIRT2303303	hsa-miR-4717-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT2303304	hsa-miR-4748	CLIP-seq
MIRT2303305	hsa-miR-4753-3p	CLIP-seq
MIRT2076602	hsa-miR-4763-3p	CLIP-seq
MIRT2303306	hsa-miR-4768-5p	CLIP-seq
MIRT1260158	hsa-miR-4784	CLIP-seq
MIRT2303307	hsa-miR-4797-3p	CLIP-seq
MIRT2303308	hsa-miR-4797-5p	CLIP-seq
MIRT2303309	hsa-miR-513b	CLIP-seq
MIRT2303310	hsa-miR-548v	CLIP-seq
MIRT2076605	hsa-miR-608	CLIP-seq
MIRT2303311	hsa-miR-612	CLIP-seq
MIRT2303312	hsa-miR-626	CLIP-seq
MIRT2076606	hsa-miR-629	CLIP-seq
MIRT1260163	hsa-miR-635	CLIP-seq
MIRT2303313	hsa-miR-645	CLIP-seq
MIRT1260124	hsa-miR-761	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT2303314	hsa-miR-764	CLIP-seq
MIRT1260165	hsa-miR-765	CLIP-seq
MIRT2303315	hsa-miR-936	CLIP-seq
MIRT2076607	hsa-miR-940	CLIP-seq
MIRT2303252	hsa-miR-1184	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT2303280	hsa-miR-378	CLIP-seq
MIRT2303281	hsa-miR-378b	CLIP-seq
MIRT2303282	hsa-miR-378c	CLIP-seq
MIRT2303283	hsa-miR-378d	CLIP-seq
MIRT2303284	hsa-miR-378e	CLIP-seq
MIRT2303285	hsa-miR-378f	CLIP-seq
MIRT2303286	hsa-miR-378h	CLIP-seq
MIRT2303287	hsa-miR-378i	CLIP-seq
MIRT2303290	hsa-miR-422a	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT2303293	hsa-miR-4446-3p	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT2303297	hsa-miR-4522	CLIP-seq
MIRT2303300	hsa-miR-4685-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT2599938	hsa-miR-431	CLIP-seq
MIRT2599939	hsa-miR-4421	CLIP-seq
MIRT2599940	hsa-miR-552	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19049980
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12816872
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	12816872
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0005515	Function	Protein binding	IPI	19049980, 21516122, 30462309
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19049980
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016235	Component	Aggresome	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0017053	Component	Transcription repressor complex	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	14656887
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	14656887
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	19049980
GO:0030853	Process	Negative regulation of granulocyte differentiation	IDA	12816872
GO:0032259	Process	Methylation	IEA
GO:0043457	Process	Regulation of cellular respiration	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	12816872
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12816872
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12816872, 25578880
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0050873	Process	Brown fat cell differentiation	ISS
GO:0070828	Process	Heterochromatin organization	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24439384, 24703692
GO:0140297	Function	DNA-binding transcription factor binding	IPI	25578880
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:0140948	Function	Histone H3K9 monomethyltransferase activity	IEA

MIM	HGNC	e!Ensembl
605557	14000	ENSG00000142611

Q9HAZ2

Protein name

Histone-lysine N-methyltransferase PRDM16 (EC 2.1.1.367) (PR domain zinc finger protein 16) (PR domain-containing protein 16) (Transcription factor MEL1) (MDS1/EVI1-like gene 1)

Protein function

Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free his

PDB

2N1I , 6BW4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13912	zf-C2H2_6	229 → 251		Domain
PF00096	zf-C2H2	281 → 303	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	309 → 331	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	337 → 360	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	366 → 388	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	394 → 416	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	423 → 444	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	951 → 973	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	979 → 1002	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	1008 → 1030	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells. {ECO:0000269|PubMed:11050005, ECO:0000269|PubMed:12816872, ECO:0000269|PubMed:23768516}.

Sequence

MRSKARARKLAKSDGDVVNNMYEPNRDLLASHSAEDEAEDSAMSPIPVGPPSPFPTSEDF
TPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAA
AKETDFGWEQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDD
QNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLGTVPPGLDEEPTFRCDECDELFQ
SKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHM
VIHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQH
VGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEVCHKSYTQFSNLCRHKRMHADCR
TQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNH
ASLGFNEYFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLN
HTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEKFESRLEDSCVEKLKTRSSDMSD
GSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPN
SVAEVPVFYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLP
YHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSPRDALKVGGPSAECPFDLTTKPK
DVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLP
QVCPARMPQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSA
IETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTLSDPILRKGKERYTCRYCGKIF
PRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQ
TNLDRHLKKHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFI
ANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVEEEDDDDLEEDDEDSLAGKSQD
DTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRR
AAEEAFEVKDVLNSTLDSEALKHTLCRQAKNQAYAMMLSLSEDTPLHTPSQGSLDAWLKV
TGATSESGAFHPINHL

Sequence length

1276

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Thermogenesis		PKMTs methylate histone lysines

1207

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, dilated, 1LL	Pathogenic	rs202115331	RCV000054523
Left ventricular noncompaction 8	Pathogenic; Likely pathogenic	rs1643176372, rs2523887339, rs2523951441, rs2100664124, rs397514742, rs886041395	RCV001331228 RCV002290369 RCV003333648 RCV003985225 RCV000054518 RCV000054519
Left ventricular noncompaction cardiomyopathy	Pathogenic	rs2100662912, rs397514742, rs886041395	RCV002204525 RCV002054880 RCV002295279
PRDM16-related congenital heart disease	Likely pathogenic	rs2523951441	RCV003492869

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Uncertain significance	rs200278862	RCV005895380
Familial restrictive cardiomyopathy	Uncertain significance	rs1569732779, rs397514743	RCV000853133 RCV000853165
Melanoma	Likely benign	rs767412035	RCV005910981
Microcephaly	Benign; Likely benign	rs150022595	RCV001252771
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs375543158	RCV005909080
PRDM16-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs929298724, rs779190595, rs966858972, rs768209040, rs1478144781, rs558211792, rs373546344, rs2483221, rs150097149, rs61756439, rs757093442, rs536908705, rs368589754, rs188908415, rs150395260 View all (41 more)	RCV003953659 RCV003399139 RCV003908602 RCV003955988 RCV003401697 RCV003978591 RCV003893295 RCV003927882 RCV003967576 RCV003917889 RCV003955261 RCV003937840 RCV003955250 RCV003929877 RCV003917905 RCV003967593 RCV003937854 RCV003929878 RCV003929898 RCV003907800 RCV003967594 RCV003917888 RCV004745291 RCV003947795 RCV003919978 RCV003929997 RCV003929998 RCV003955367 RCV003414256 RCV003981754 RCV003937358 RCV003902459 RCV003932679 RCV003959984 RCV003942449 RCV003899958 RCV003925313 RCV003915288 RCV004745424 RCV004745435 RCV003935513 RCV003925692 RCV003905498 RCV003917919 RCV003905765 RCV004745533 RCV003945658 RCV003928346 RCV003955634 RCV003955640 RCV003948143 RCV003920413 RCV004745182 RCV003396699 RCV003973150 RCV003953600
Primary dilated cardiomyopathy	Uncertain significance; Likely benign	rs766972389, rs769704263, rs113879347, rs397514744, rs768208960	RCV002052290 RCV001293113 RCV001293179 RCV001375649 RCV001375650
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs199998420	RCV000853158
See cases	Uncertain significance	rs377547823	RCV002252709
Wolff-Parkinson-White pattern	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs185041492, rs866090726, rs201814961, rs749180764	RCV000656141 RCV000656215 RCV000656180 RCV000656157

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	32233023
Astrocytoma	Associate	26701852
Bjornstad syndrome	Associate	26684393
Carcinoma Hepatocellular	Associate	33540684
Cardiomyopathies	Associate	24454898, 32233023, 33719213, 35893073
Cardiomyopathy Dilated	Associate	33719213
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	33719213, 35893073
Cardiovascular Diseases	Associate	39198424
CHARGE Syndrome	Associate	33719213
Cholangiocarcinoma	Associate	39643892
Clubfoot	Associate	33719213
Colorectal Neoplasms	Associate	34311674
Coronary Artery Disease	Associate	28824327, 35590109
Crohn Disease	Associate	32252817
Depressive Disorder	Associate	34972135
Diabetes Gestational	Associate	35721735
Diabetes Mellitus	Associate	28127622
Diabetes Mellitus Type 2	Associate	26418287, 28824327
Diabetic Retinopathy	Associate	28924151
Down Syndrome	Associate	18202228
Esophageal Neoplasms	Associate	27893424
Esophageal Squamous Cell Carcinoma	Associate	27893424
Heart Failure	Associate	28824327
Hemangioblastoma	Associate	26768750
HIV Infections	Associate	26756119
Hyperglycemia	Associate	37386647
Hypertrophy	Associate	36007622
Hypogonadism	Associate	33719213, 39286266
Isolated Noncompaction of the Ventricular Myocardium	Associate	27642787
Leukemia	Associate	18202228
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	18202228
Leukemia Myeloid Acute	Associate	14585371, 14712237, 31648321, 35008106, 35473465
Lung Neoplasms	Associate	24966940
Lymphatic Metastasis	Associate	35013309
Lymphoma	Associate	22050763
Metabolic Diseases	Associate	36007622
Migraine Disorders	Associate	21666692, 24674449, 39333847
Myelodysplastic Syndromes	Associate	14585371, 14712237, 22050763
Neoplasm Invasiveness	Associate	35013309
Neoplasms	Associate	14712237, 22050763, 27893424, 28924151, 30347759, 39643892
Neoplasms Adipose Tissue	Associate	36007622
Neuroendocrine Tumors	Associate	37534217
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	24454898, 33500567
Obesity	Stimulate	28824327
Obesity	Associate	30177354
Olfaction Disorders	Associate	33719213
Osteosarcoma	Associate	15298715
Prader Willi Syndrome	Associate	36007622
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22050763, 26684393
Squamous Cell Carcinoma of Head and Neck	Associate	34051764
Stomach Neoplasms	Associate	30212456
Thyroid Neoplasms	Associate	34167437

PRDM16 (PR/SET domain 16)