ZNF627

Summary

ZNF627 (zinc finger protein 627, HGNC:30570) is a protein-coding gene on chromosome 19p13.2, encoding Zinc finger protein 627 (Q7L945). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 199692 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_145295

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30570
Approved symbol	ZNF627
Name	zinc finger protein 627
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90365
Ensembl gene	ENSG00000198551
Ensembl biotype	protein_coding
OMIM	612248
Entrez	199692

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000361113, ENST00000585493, ENST00000587939, ENST00000588174, ENST00000588651, ENST00000593279

RefSeq mRNA: 4 — MANE Select: NM_145295 NM_001290083, NM_001290084, NM_001290085, NM_145295

CCDS: CCDS42502

Canonical transcript exons

ENST00000361113 — 4 exons

Exon	Start	End
ENSE00001746432	11614827	11614887
ENSE00002772877	11597483	11597630
ENSE00002932183	11616695	11619161
ENSE00003468415	11614527	11614653

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 91.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3416 / max 150.5887, expressed in 1785 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173958	10.6310	1771
173959	1.7879	807
173948	1.4204	673
173949	0.5023	246

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	91.22	gold quality
cortical plate	UBERON:0005343	90.13	gold quality
bronchial epithelial cell	CL:0002328	88.60	gold quality
ventricular zone	UBERON:0003053	88.49	gold quality
bronchus	UBERON:0002185	87.58	gold quality
ileal mucosa	UBERON:0000331	87.26	gold quality
tibialis anterior	UBERON:0001385	86.71	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.82	gold quality
islet of Langerhans	UBERON:0000006	84.67	gold quality
calcaneal tendon	UBERON:0003701	84.57	gold quality
caput epididymis	UBERON:0004358	84.43	gold quality
endometrium	UBERON:0001295	83.81	gold quality
skin of hip	UBERON:0001554	83.57	gold quality
kidney epithelium	UBERON:0004819	83.44	silver quality
corpus epididymis	UBERON:0004359	82.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.07	silver quality
deltoid	UBERON:0001476	82.05	silver quality
pigmented layer of retina	UBERON:0001782	81.83	gold quality
epithelium of mammary gland	UBERON:0003244	81.52	gold quality
mammary duct	UBERON:0001765	81.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.40	gold quality
cartilage tissue	UBERON:0002418	80.87	gold quality
right uterine tube	UBERON:0001302	80.84	gold quality
uterus	UBERON:0000995	80.63	gold quality
upper leg skin	UBERON:0004262	80.22	gold quality
metanephros	UBERON:0000081	80.19	gold quality
pancreas	UBERON:0001264	80.10	gold quality
ovary	UBERON:0000992	80.08	gold quality
fallopian tube	UBERON:0003889	80.03	gold quality
stromal cell of endometrium	CL:0002255	79.95	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting ZNF627, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-539-5P	99.93	70.30	2855

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp872	ENSMUSG00000074472

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391)

Protein

Protein identifiers

Zinc finger protein 627 — Q7L945 (reviewed: Q7L945)

All UniProt accessions (4): Q7L945, K7EJ27, K7EKY8, K7ELG4

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

RefSeq proteins (4): NP_001277012, NP_001277013, NP_001277014, NP_660338* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (18 total): zinc finger region 11, sequence conflict 3, cross-link 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L945-F1	69.43	0.37

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, 439

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 48 (showing top): GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_UP, GARY_CD5_TARGETS_UP, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, BARX1_TARGET_GENES, ELF2_TARGET_GENES, HOXA7_TARGET_GENES, ID2_TARGET_GENES, SFMBT1_TARGET_GENES, ZNF322_TARGET_GENES, MIR548G_3P, GSE13229_IMM_VS_INTMATURE_NKCELL_DN, GSE13229_MATURE_VS_INTMATURE_NKCELL_DN, GSE14000_TRANSLATED_RNA_VS_MRNA_4H_LPS_DC_UP

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

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF627	OR13G1	Q8NGZ3	620
ZNF627	TAS2R50	P59544	578
ZNF627	TMEM167B	Q9NRX6	418
ZNF627	ZNF608	Q9ULD9	390
ZNF627	ZZZ3	Q8IYH5	375
ZNF627	ZBTB21	Q9ULJ3	372
ZNF627	NUDCD2	Q8WVJ2	370
ZNF627	NBPF14	Q5TI25	370
ZNF627	TTC29	Q8NA56	370
ZNF627	NUDCD1	Q96RS6	324
ZNF627	ADCK2	Q7Z695	322
ZNF627	NBDY	A0A0U1RRE5	322
ZNF627	COMMD10	Q9Y6G5	301
ZNF627	ZNF827	Q17R98	298
ZNF627	BOLA2	Q9H3K6	297

IntAct

37 interactions, top by confidence:

A	B	Type	Score
CCNDBP1	ZNF627	psi-mi:“MI:0915”(physical association)	0.740
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
TRAF1	ZNF627	psi-mi:“MI:0915”(physical association)	0.560
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
CCNDBP1	JUN	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF316	psi-mi:“MI:0914”(association)	0.530
PPP1R16B	ZNF24	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
ECE1	ZNF627	psi-mi:“MI:0915”(physical association)	0.370
PPP1R16B	PXDNL	psi-mi:“MI:0914”(association)	0.350
EFEMP1	ZNF316	psi-mi:“MI:0914”(association)	0.350
NELL2	MATN2	psi-mi:“MI:0914”(association)	0.350
ZNF627	POLR1C	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
FBLN2	ZNF316	psi-mi:“MI:0914”(association)	0.350
FAXC	METTL15	psi-mi:“MI:0914”(association)	0.350
PTX3	POLRMT	psi-mi:“MI:0914”(association)	0.350
OR52B2	PCCA	psi-mi:“MI:0914”(association)	0.350
KAZALD1	ZNF865	psi-mi:“MI:0914”(association)	0.350
LDLRAD1	ZNF316	psi-mi:“MI:0914”(association)	0.350

BioGRID (29): ZNF627 (Two-hybrid), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Two-hybrid), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS), ZNF627 (Affinity Capture-MS)

ESM2 similar proteins: A6NK75, A6NNF4, A6NP11, A8MTY0, A8MUV8, B4DX44, B4DXR9, O43361, O75346, O75373, O75437, O95780, P0DKX0, P0DPD5, P17019, P17024, Q02386, Q03923, Q03924, Q03936, Q03938, Q14593, Q15928, Q3SXZ3, Q68DY1, Q6JLC9, Q6ZMV8, Q6ZN08, Q7L945, Q86T29, Q86V71, Q8BZW4, Q8IW36, Q8IYN0, Q8N8Z8, Q8NEM1, Q8TB69, Q8TC21, Q8TD23, Q8TF32

Diamond homologs: A0JPK3, A8MT65, C9JN71, E9QAG8, G3X9G7, O75820, P16373, P16374, P16415, P17017, P17024, P17025, P51815, P52737, Q08AG5, Q08ER8, Q0D2J5, Q15973, Q2M218, Q3KP31, Q3V080, Q494X3, Q4R4C7, Q5MYW4, Q5R9F0, Q5R9S5, Q5REI6, Q5REK1, Q68EA5, Q6P560, Q6P5C7, Q6ZQV5, Q7L945, Q86T29, Q8BGV5, Q8C6P8, Q8IYI8, Q8IZC7, Q8N7K0, Q8N972

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1658 predictions. Top by Δscore:

Variant	Effect	Δscore
19:11575248:AGGTA:A	acceptor_gain	1.0000
19:11575249:GGTA:G	acceptor_gain	1.0000
19:11575250:GTA:G	acceptor_gain	1.0000
19:11575251:TA:T	acceptor_gain	1.0000
19:11575252:ACTGA:A	acceptor_loss	1.0000
19:11575253:C:CC	acceptor_gain	1.0000
19:11575253:CTG:C	acceptor_loss	1.0000
19:11576238:CTCAC:C	donor_loss	1.0000
19:11576241:A:AC	donor_gain	1.0000
19:11576241:ACC:A	donor_loss	1.0000
19:11576242:C:A	donor_loss	1.0000
19:11576242:C:CC	donor_gain	1.0000
19:11576242:CCTG:C	donor_gain	1.0000
19:11576589:C:CC	acceptor_gain	1.0000
19:11577056:C:A	donor_loss	1.0000
19:11577316:ATCT:A	acceptor_loss	1.0000
19:11578838:TCTCA:T	donor_loss	1.0000
19:11578839:CTCA:C	donor_loss	1.0000
19:11578840:TCA:T	donor_loss	1.0000
19:11578841:CACCT:C	donor_loss	1.0000
19:11578842:A:T	donor_loss	1.0000
19:11614509:ACATG:A	acceptor_gain	1.0000
19:11614511:ATGG:A	acceptor_gain	1.0000
19:11614511:ATGGG:A	acceptor_gain	1.0000
19:11614649:TGTAG:T	donor_loss	1.0000
19:11614650:G:GG	donor_gain	1.0000
19:11614650:GTAG:G	donor_loss	1.0000
19:11614653:GGT:G	donor_loss	1.0000
19:11614655:T:A	donor_loss	1.0000
19:11614812:G:A	acceptor_gain	1.0000

AlphaMissense

3056 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:11617701:T:C	F400L	0.994
19:11617703:C:A	F400L	0.994
19:11617703:C:G	F400L	0.994
19:11617785:T:C	F428L	0.993
19:11617787:C:A	F428L	0.993
19:11617787:C:G	F428L	0.993
19:11617617:T:C	F372L	0.992
19:11617619:C:A	F372L	0.992
19:11617619:C:G	F372L	0.992
19:11617574:C:A	H357Q	0.990
19:11617574:C:G	H357Q	0.990
19:11617197:T:C	F232L	0.989
19:11617199:C:A	F232L	0.989
19:11617199:C:G	F232L	0.989
19:11617658:C:A	H385Q	0.989
19:11617658:C:G	H385Q	0.989
19:11617365:T:C	F288L	0.986
19:11617367:T:A	F288L	0.986
19:11617367:T:G	F288L	0.986
19:11617315:G:C	R271P	0.983
19:11617618:T:C	F372S	0.983
19:11617742:C:A	H413Q	0.983
19:11617742:C:G	H413Q	0.983
19:11617281:T:C	F260L	0.981
19:11617283:C:A	F260L	0.981
19:11617283:C:G	F260L	0.981
19:11617646:T:A	H381Q	0.980
19:11617646:T:G	H381Q	0.980
19:11617533:T:C	F344L	0.978
19:11617535:T:A	F344L	0.978

dbSNP variants (sampled 300 via entrez): RS1000026116 (19:11615521 G>A,C,T), RS1000092780 (19:11616732 G>A), RS1000113236 (19:11613626 G>A,C), RS1000317249 (19:11619648 G>A,C), RS1000409922 (19:11619443 A>C), RS1000461558 (19:11615866 T>A,C,G), RS1000783025 (19:11600610 C>A,T), RS1000939735 (19:11600397 G>A), RS1000943752 (19:11607237 A>G), RS1001430261 (19:11603220 TACAA>T), RS1001632520 (19:11603245 C>G), RS1001675126 (19:11598092 A>G), RS1001788255 (19:11601977 G>A), RS1001823492 (19:11597860 G>T), RS1001916389 (19:11603583 G>A)

Disease associations

OMIM: gene MIM:612248 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2229531	ACP5, ZNF627		0.00	0
rs2305799	ACP5, ZNF627		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Valproic Acid	decreases expression, affects expression	3
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	increases oxidation, affects expression, affects cotreatment, increases abundance	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Smoke	increases abundance, decreases expression, affects expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
resorcinol	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Cadmium	increases abundance, increases expression	1
Coumestrol	decreases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

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