ZNF101

Summary

ZNF101 (zinc finger protein 101, HGNC:12881) is a protein-coding gene on chromosome 19p13.11, encoding Zinc finger protein 101 (Q8IZC7). May be involved in transcriptional regulation.

Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.

Source: NCBI Gene 94039 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_033204

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12881
Approved symbol	ZNF101
Name	zinc finger protein 101
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	HZF12, DKFZp570I0164
Ensembl gene	ENSG00000181896
Ensembl biotype	protein_coding
OMIM	603983
Entrez	94039

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000318110, ENST00000415440, ENST00000415784, ENST00000444249, ENST00000541458, ENST00000585565, ENST00000586745, ENST00000592502

RefSeq mRNA: 2 — MANE Select: NM_033204 NM_001300949, NM_033204

CCDS: CCDS32971, CCDS77271

Canonical transcript exons

ENST00000592502 — 4 exons

Exon	Start	End
ENSE00002306711	19668839	19668966
ENSE00002960468	19679181	19683506
ENSE00003556477	19678726	19678786
ENSE00003655938	19677864	19677990

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 93.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4844 / max 301.2961, expressed in 1549 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174821	5.5410	1253
174820	1.3201	775
174822	0.6232	203

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	93.09	gold quality
secondary oocyte	CL:0000655	91.75	gold quality
oocyte	CL:0000023	90.20	gold quality
lower esophagus mucosa	UBERON:0035834	90.00	gold quality
ileal mucosa	UBERON:0000331	89.88	gold quality
lymph node	UBERON:0000029	89.58	gold quality
blood	UBERON:0000178	88.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.58	gold quality
colonic epithelium	UBERON:0000397	86.88	gold quality
vermiform appendix	UBERON:0001154	86.87	gold quality
bone marrow cell	CL:0002092	86.78	gold quality
granulocyte	CL:0000094	86.32	gold quality
endothelial cell	CL:0000115	84.56	gold quality
thymus	UBERON:0002370	84.47	gold quality
tonsil	UBERON:0002372	84.40	gold quality
spleen	UBERON:0002106	83.83	gold quality
esophagus squamous epithelium	UBERON:0006920	83.41	gold quality
leukocyte	CL:0000738	82.76	gold quality
bone marrow	UBERON:0002371	82.06	gold quality
monocyte	CL:0000576	81.97	gold quality
calcaneal tendon	UBERON:0003701	81.08	gold quality
ventricular zone	UBERON:0003053	80.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.03	gold quality
right testis	UBERON:0004534	80.03	gold quality
left testis	UBERON:0004533	79.84	gold quality
mucosa of transverse colon	UBERON:0004991	79.33	gold quality
esophagus mucosa	UBERON:0002469	78.95	gold quality
caecum	UBERON:0001153	78.91	gold quality
testis	UBERON:0000473	78.73	gold quality
amniotic fluid	UBERON:0000173	78.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

98 targeting ZNF101, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-577	99.78	69.13	2479

Cross-species orthologs

0 orthologs

Paralogs (15): ZNF14 (ENSG00000105708), ZNF57 (ENSG00000171970), ZNF791 (ENSG00000173875), ZNF443 (ENSG00000180855), ZNF563 (ENSG00000188868), ZNF799 (ENSG00000196466), ZNF700 (ENSG00000196757), ZNF441 (ENSG00000197044), ZNF433 (ENSG00000197647), ZNF44 (ENSG00000197857), ZNF823 (ENSG00000197933), ZNF442 (ENSG00000198342), ZNF844 (ENSG00000223547), ZNF709 (ENSG00000242852), ZNF878 (ENSG00000257446)

Protein

Protein identifiers

Zinc finger protein 101 — Q8IZC7 (reviewed: Q8IZC7)

Alternative names: Zinc finger protein HZF12

All UniProt accessions (4): Q8IZC7, K7EN16, K7ENV8, Q504T0

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Expressed in a variety of adult and fetal tissues.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IZC7-1	1	yes
Q8IZC7-2	2

RefSeq proteins (2): NP_001287878, NP_149981* (*=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
IPR050758	Znf_C2H2-type	Family

Pfam: PF00096, PF01352

UniProt features (17 total): zinc finger region 10, compositionally biased region 2, chain 1, domain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZC7-F1	66.56	0.02

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 77 (showing top): chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, BROWNE_HCMV_INFECTION_48HR_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, CHAF1B_TARGET_GENES, MAML1_TARGET_GENES, ZNF184_TARGET_GENES, ZNF274_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR6867_5P, MIR3910

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

724 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF101	YJEFN3	A6XGL0	525
ZNF101	ATP13A1	Q9HD20	445
ZNF101	GMIP	Q9P107	434
ZNF101	C5orf58	C9J3I9	433
ZNF101	ZNF487	B1APH4	417
ZNF101	TSSK6	Q9BXA6	403
ZNF101	OR1E2	P47887	400
ZNF101	FAM228A	Q86W67	400
ZNF101	BORCS8	Q96FH0	392
ZNF101	TMCC2	O75069	383
ZNF101	PLEKHJ1	Q9NW61	371
ZNF101	USP19	O94966	370
ZNF101	MINDY4B	A8MYZ0	370
ZNF101	CILP2	Q8IUL8	359
ZNF101	NPIPB6	E9PJ23	358

IntAct

62 interactions, top by confidence:

A	B	Type	Score
KRTAP10-7	ZNF101	psi-mi:“MI:0915”(physical association)	0.720
MDFI	ZNF101	psi-mi:“MI:0915”(physical association)	0.720
ZNF101	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
ZNF101	MDFI	psi-mi:“MI:0915”(physical association)	0.720
STX7	SNAP23	psi-mi:“MI:0914”(association)	0.640
ZNF16	ZNF101	psi-mi:“MI:0915”(physical association)	0.560
KRT40	ZNF101	psi-mi:“MI:0915”(physical association)	0.560
	ZNF101	psi-mi:“MI:0915”(physical association)	0.560
ZNF101	KRT40	psi-mi:“MI:0915”(physical association)	0.560
ZNF101		psi-mi:“MI:0915”(physical association)	0.560
ZNF101	ZNF16	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	ZNF101	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-3	ZNF101	psi-mi:“MI:0915”(physical association)	0.560
ZNF101	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
HRC	ZNF791	psi-mi:“MI:0914”(association)	0.530
ZNF101	CDK6	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
CDK4	ZNF101	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ZNF101	PDIA3	psi-mi:“MI:0915”(physical association)	0.400
ZNF101	ECE1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (42): ZNF101 (Two-hybrid), ZNF101 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-3 (Two-hybrid), ZNF101 (Affinity Capture-MS), ZNF101 (Two-hybrid), ZNF101 (Two-hybrid), ZNF101 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS)

ESM2 similar proteins: A0JPL0, A6NK53, A8MUZ8, A8MWA4, B2RXC5, E7ETH6, E9Q8G5, O14628, P0CH99, P0CI00, P21506, P51502, Q02525, Q0D2J5, Q12901, Q13360, Q15973, Q2M218, Q2VY69, Q3KQV3, Q4R882, Q5FWF6, Q5HY98, Q6NX49, Q6V9R5, Q6ZN11, Q6ZN79, Q8BV42, Q8IVC4, Q8IZC7, Q8N587, Q8N720, Q8NDP4, Q8TAU3, Q8TAW3, Q8TF39, Q96BR6, Q96JL9, Q96NG8, Q96NJ3

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Keratinization	5	9.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

757 predictions. Top by Δscore:

Variant	Effect	Δscore
19:19677852:G:A	acceptor_gain	1.0000
19:19677987:GTCG:G	donor_gain	1.0000
19:19677991:G:GG	donor_gain	1.0000
19:19679180:GAA:G	acceptor_gain	1.0000
19:19668935:G:GT	donor_gain	0.9900
19:19668963:AATGG:A	donor_loss	0.9900
19:19668964:ATGG:A	donor_loss	0.9900
19:19668965:TGGT:T	donor_loss	0.9900
19:19668966:GGTGA:G	donor_loss	0.9900
19:19668967:G:GA	donor_loss	0.9900
19:19668968:T:G	donor_loss	0.9900
19:19669002:G:GT	donor_gain	0.9900
19:19677846:ACCT:A	acceptor_gain	0.9900
19:19677847:C:G	acceptor_gain	0.9900
19:19677851:T:TA	acceptor_gain	0.9900
19:19677859:TTCA:T	acceptor_loss	0.9900
19:19677861:CA:C	acceptor_loss	0.9900
19:19677862:A:AC	acceptor_loss	0.9900
19:19677862:A:AG	acceptor_gain	0.9900
19:19677862:AG:A	acceptor_gain	0.9900
19:19677863:G:A	acceptor_loss	0.9900
19:19677863:G:GG	acceptor_gain	0.9900
19:19677863:GG:G	acceptor_gain	0.9900
19:19677989:CGGTA:C	donor_loss	0.9900
19:19677992:T:A	donor_loss	0.9900
19:19668954:G:GT	donor_gain	0.9800
19:19668967:G:GG	donor_gain	0.9800
19:19670186:G:GT	donor_gain	0.9800
19:19677846:A:AG	acceptor_gain	0.9800
19:19677861:CAGGA:C	acceptor_gain	0.9800

AlphaMissense

2890 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:19679773:T:C	F262L	0.993
19:19679775:C:A	F262L	0.993
19:19679775:C:G	F262L	0.993
19:19680112:T:C	F375L	0.992
19:19680114:T:A	F375L	0.992
19:19680114:T:G	F375L	0.992
19:19680196:T:C	F403L	0.986
19:19680198:T:A	F403L	0.986
19:19680198:T:G	F403L	0.986
19:19680028:T:C	F347L	0.977
19:19680030:C:A	F347L	0.977
19:19680030:C:G	F347L	0.977
19:19680153:C:A	H388Q	0.975
19:19680153:C:G	H388Q	0.975
19:19679521:T:C	F178L	0.969
19:19679523:T:A	F178L	0.969
19:19679523:T:G	F178L	0.969
19:19677897:T:C	F13L	0.968
19:19677899:C:A	F13L	0.968
19:19677899:C:G	F13L	0.968
19:19680069:T:A	H360Q	0.968
19:19680069:T:G	H360Q	0.968
19:19679779:T:C	S264P	0.966
19:19680202:T:C	F405L	0.966
19:19680204:T:A	F405L	0.966
19:19680204:T:G	F405L	0.966
19:19679944:T:C	F319L	0.965
19:19679946:T:A	F319L	0.965
19:19679946:T:G	F319L	0.965
19:19679774:T:C	F262S	0.960

dbSNP variants (sampled 300 via entrez): RS1000043525 (19:19668809 C>G,T), RS1000076409 (19:19668904 G>A,C,T), RS1000277645 (19:19674382 G>A), RS1000304573 (19:19671913 C>CTT), RS1000800830 (19:19680748 C>T), RS1000819955 (19:19678279 A>G), RS1000874910 (19:19672871 G>A,T), RS1001045493 (19:19667633 C>G), RS1001076385 (19:19667859 G>A,C), RS1001152894 (19:19667890 G>A), RS1001397769 (19:19673212 A>C,G), RS1001470701 (19:19668348 A>G), RS1001492980 (19:19674297 C>T), RS1001554017 (19:19668535 C>T), RS1001785236 (19:19673983 G>A,T)

Disease associations

OMIM: gene MIM:603983 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000809_4	Triglycerides	4.000000e-08
GCST002671_14	Toenail selenium levels	5.000000e-06
GCST002783_277	Body mass index	5.000000e-07
GCST002783_632	Body mass index	5.000000e-06
GCST004634_47	Basophil percentage of granulocytes	3.000000e-11
GCST006020_2	Diastolic blood pressure	2.000000e-08
GCST008468_5	Nonalcoholic fatty liver disease	5.000000e-06
GCST010002_52	Refractive error	4.000000e-29
GCST012020_59	Serum metabolite levels	8.000000e-11
GCST90020028_1538	Hip circumference adjusted for BMI	9.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004340	body mass index
EFO:0007995	basophil percentage of granulocytes
EFO:0006336	diastolic blood pressure
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	increases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Amiodarone	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Niclosamide	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XW01	HEK293 eGFP-ZNF101	Transformed cell line	Female

Clinical trials (associated diseases)

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