ZBED8L

Summary

ZBED8L (ZBED8 like, HGNC:25401) is a protein-coding gene on chromosome 7q22.1, encoding Protein FAM200A (Q8TCP9).

This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse.

Source: NCBI Gene 221786 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_145111

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25401
Approved symbol	ZBED8L
Name	ZBED8 like
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36794, DKFZp727G131
Ensembl gene	ENSG00000221909
Ensembl biotype	protein_coding
Entrez	221786

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000408938, ENST00000449309, ENST00000858277, ENST00000913732, ENST00000913733, ENST00000913734, ENST00000913735, ENST00000955652, ENST00000955653, ENST00000955654, ENST00000955655

RefSeq mRNA: 1 — MANE Select: NM_145111 NM_145111

CCDS: CCDS5668

Canonical transcript exons

ENST00000449309 — 2 exons

Exon	Start	End
ENSE00001612009	99546300	99548506
ENSE00001704869	99551854	99552114

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 88.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4327 / max 60.9780, expressed in 1761 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85109	6.2335	1703
85110	1.7411	896
85111	0.4581	150

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.14	gold quality
cortical plate	UBERON:0005343	83.81	gold quality
ganglionic eminence	UBERON:0004023	82.38	gold quality
ventricular zone	UBERON:0003053	82.19	gold quality
calcaneal tendon	UBERON:0003701	80.40	gold quality
islet of Langerhans	UBERON:0000006	79.54	gold quality
right testis	UBERON:0004534	78.84	gold quality
adrenal tissue	UBERON:0018303	78.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.11	gold quality
cerebellar hemisphere	UBERON:0002245	77.88	gold quality
stromal cell of endometrium	CL:0002255	77.87	gold quality
cerebellar cortex	UBERON:0002129	77.79	gold quality
left ovary	UBERON:0002119	77.73	gold quality
left testis	UBERON:0004533	77.59	gold quality
adenohypophysis	UBERON:0002196	77.45	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.42	gold quality
sperm	CL:0000019	77.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.20	gold quality
right ovary	UBERON:0002118	77.00	gold quality
muscle of leg	UBERON:0001383	76.82	gold quality
testis	UBERON:0000473	76.79	gold quality
cerebellum	UBERON:0002037	76.75	gold quality
gastrocnemius	UBERON:0001388	76.70	gold quality
right adrenal gland cortex	UBERON:0035827	76.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.64	gold quality
right adrenal gland	UBERON:0001233	76.22	gold quality
pituitary gland	UBERON:0000007	76.19	gold quality
ovary	UBERON:0000992	76.16	gold quality
left adrenal gland cortex	UBERON:0035825	76.00	gold quality
left adrenal gland	UBERON:0001234	75.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting ZBED8L, 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-4482-3P	99.98	72.50	3147
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-5581-5P	97.91	66.50	965
HSA-MIR-188-5P	97.89	67.01	756
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6866-3P	97.38	66.94	748

Cross-species orthologs

0 orthologs

Paralogs (18): GTF2IRD1 (ENSG00000006704), ZMYM2 (ENSG00000121741), ZMYM5 (ENSG00000132950), THAP12 (ENSG00000137492), ZMYM4 (ENSG00000146463), ZMYM3 (ENSG00000147130), ZMYM6 (ENSG00000163867), KIAA1958 (ENSG00000165185), GTF2IRD2B (ENSG00000174428), EPM2AIP1 (ENSG00000178567), GTF2IRD2 (ENSG00000196275), ZMYM1 (ENSG00000197056), QRICH1 (ENSG00000198218), FAM200C (ENSG00000221886), SCAND3 (ENSG00000232040), ZBED5 (ENSG00000236287), FAM200B (ENSG00000237765), GTF2I (ENSG00000263001)

Protein

Protein identifiers

Protein FAM200A — Q8TCP9 (reviewed: Q8TCP9)

All UniProt accessions (2): Q8TCP9, J3QT35

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the FAM200 family.

RefSeq proteins (1): NP_659802* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012337	RNaseH-like_sf	Homologous_superfamily

UniProt features (9 total): sequence conflict 4, topological domain 2, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TCP9-F1	83.09	0.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 50 (showing top): DODD_NASOPHARYNGEAL_CARCINOMA_UP, ELK1_01, SCGGAAGY_ELK1_02, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_UP, ATF5_TARGET_GENES, CREB3L4_TARGET_GENES, DIDO1_TARGET_GENES, GLI4_TARGET_GENES, HHEX_TARGET_GENES, HOXA10_TARGET_GENES, NKX2_2_TARGET_GENES, SETD7_TARGET_GENES, SNIP1_TARGET_GENES, ZNF10_TARGET_GENES, ZNF184_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBED8L	DDX31	Q9H8H2	608
ZBED8L	NUTM2F	A1L443	571
ZBED8L	DIP2C-AS1	Q8N8Z3	544
ZBED8L	FAM24B	Q8N5W8	506
ZBED8L	ZSCAN25	Q6NSZ9	506
ZBED8L	NCKAP5L	Q9HCH0	447
ZBED8L	ZNF789	Q5FWF6	446
ZBED8L	C14orf132	Q9NPU4	446
ZBED8L	DNHD1	Q96M86	419
ZBED8L	DUS3L	Q96G46	419
ZBED8L	TMEM87A	Q8NBN3	413
ZBED8L	ASB16	Q96NS5	400
ZBED8L	ZKSCAN5	Q9Y2L8	398
ZBED8L	GARIN5B	Q8N5Q1	394
ZBED8L	DNPH1	O43598	371

IntAct

15 interactions, top by confidence:

A	B	Type	Score
FAM200A	RBM39	psi-mi:“MI:0915”(physical association)	0.560
SUMO1P1	FAM200A	psi-mi:“MI:0915”(physical association)	0.560
RBM39	FAM200A	psi-mi:“MI:0915”(physical association)	0.560
RGL3	FAM200A	psi-mi:“MI:0915”(physical association)	0.560
FAM200A	FAM200A	psi-mi:“MI:0915”(physical association)	0.370
FAM200A	E7	psi-mi:“MI:0915”(physical association)	0.370
FAM200A	FAM200B	psi-mi:“MI:0914”(association)	0.350
RGL3	FAM200A	psi-mi:“MI:0915”(physical association)	0.000
rne	FAM200A	psi-mi:“MI:0915”(physical association)	0.000
	FAM200A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): FAM200A (Two-hybrid), FAM200A (Two-hybrid), SUMO1P1 (Two-hybrid), FAM200A (Two-hybrid), FAM200A (Affinity Capture-MS), FAM200A (Affinity Capture-MS), FAM200A (Affinity Capture-MS), FAM200A (Affinity Capture-MS), FAM200A (Two-hybrid), SNX1 (Affinity Capture-MS), FAM200B (Affinity Capture-MS), HSP90AB1 (Cross-Linking-MS (XL-MS)), FAM200A (Protein-peptide), APP (Reconstituted Complex)

ESM2 similar proteins: A4IFA3, A4Z943, A4Z944, A4Z945, B2RRL2, D3Z4R1, F1NQJ3, O43422, O60108, O60290, O96006, P08770, P0CF97, P12258, P16320, P34601, Q09772, Q0VBL1, Q17RP2, Q3EBC8, Q3YK19, Q49AG3, Q4R6P1, Q4W5G0, Q5SVZ6, Q5SXJ3, Q6EKJ0, Q6NT04, Q6R2W3, Q7L775, Q7M3K2, Q86UP8, Q8BUZ3, Q8IY51, Q8IZ13, Q8TBB0, Q8TCP9, Q8TDG4, Q8VEH5, Q95M72

Diamond homologs: A4Z943, A4Z944, A4Z945, O95789, P0CF97, Q49AG3, Q4R6P1, Q6R2W3, Q8IZ13, Q8TCP9, A2A791, A6QPH9, Q14202, Q3U2E2, Q4R3D6, Q5RDJ2, Q5SVZ6, Q5VZL5, Q9CU65, Q9JLM4, Q9UBW7, Q9UJ78, P17029, Q4KLI1, Q5R670, Q8BGS3, A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

574 predictions. Top by Δscore:

Variant	Effect	Δscore
7:99548502:CTATC:C	acceptor_gain	0.9900
7:99548504:ATCC:A	acceptor_loss	0.9900
7:99548505:TC:T	acceptor_gain	0.9900
7:99548506:CC:C	acceptor_gain	0.9900
7:99548506:CCT:C	acceptor_loss	0.9900
7:99548507:C:CC	acceptor_gain	0.9900
7:99548507:CTGC:C	acceptor_loss	0.9900
7:99558789:T:G	donor_loss	0.9900
7:99558790:GAG:G	donor_loss	0.9900
7:99548503:TATC:T	acceptor_gain	0.9800
7:99551890:TGCC:T	donor_gain	0.9800
7:99558788:G:GG	donor_gain	0.9800
7:99551891:G:A	donor_gain	0.9700
7:99558789:T:A	donor_loss	0.9700
7:99558790:GA:G	donor_loss	0.9700
7:99558791:AGTAC:A	donor_loss	0.9700
7:99559068:G:T	donor_gain	0.9700
7:99551844:C:A	donor_gain	0.9600
7:99558744:GTGT:G	donor_gain	0.9600
7:99549513:T:G	acceptor_gain	0.9500
7:99551935:T:TA	donor_gain	0.9500
7:99559018:GTCT:G	donor_gain	0.9500
7:99548504:ATC:A	acceptor_gain	0.9400
7:99548511:A:T	acceptor_gain	0.9400
7:99549512:C:CA	acceptor_gain	0.9400
7:99548510:C:CT	acceptor_gain	0.9300
7:99548514:G:GC	acceptor_gain	0.9300
7:99551716:T:C	donor_gain	0.9300
7:99558783:CCTCG:C	donor_gain	0.9300
7:99558785:TCG:T	donor_gain	0.9300

AlphaMissense

3794 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:99546914:A:C	F498L	0.949
7:99546914:A:T	F498L	0.949
7:99546916:A:G	F498L	0.949
7:99546848:G:C	F520L	0.937
7:99546848:G:T	F520L	0.937
7:99546850:A:G	F520L	0.937
7:99547040:A:C	F456L	0.931
7:99547040:A:T	F456L	0.931
7:99547042:A:G	F456L	0.931
7:99547988:A:C	F140L	0.928
7:99547988:A:T	F140L	0.928
7:99547990:A:G	F140L	0.928
7:99548085:A:T	I108K	0.910
7:99548194:C:G	A72P	0.901
7:99548208:A:T	V67D	0.901
7:99546818:A:C	F530L	0.894
7:99546818:A:T	F530L	0.894
7:99546820:A:G	F530L	0.894
7:99548143:A:G	C89R	0.891
7:99548055:C:G	R118P	0.890
7:99546890:A:C	F506L	0.885
7:99546890:A:T	F506L	0.885
7:99546892:A:G	F506L	0.885
7:99548041:C:G	A123P	0.883
7:99548141:A:C	C89W	0.881
7:99548085:A:C	I108R	0.878
7:99546869:A:C	S513R	0.861
7:99546869:A:T	S513R	0.861
7:99546871:T:G	S513R	0.861
7:99548206:C:G	A68P	0.861

dbSNP variants (sampled 300 via entrez): RS1000051968 (7:99558820 C>T), RS1000224193 (7:99552159 G>C,T), RS1000281398 (7:99552014 A>C,G), RS1000722854 (7:99558609 C>T), RS1001075085 (7:99558778 C>G,T), RS1001229982 (7:99553734 G>A), RS1001280907 (7:99553468 C>T), RS1001399898 (7:99547197 T>C), RS1001830541 (7:99550720 C>T), RS1001918448 (7:99555362 A>G), RS1001978842 (7:99554999 C>G,T), RS1002110316 (7:99549576 G>C), RS1002127509 (7:99559635 T>A), RS1002217544 (7:99555425 G>A), RS1002270107 (7:99555084 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004730_2	Facial emotion recognition (sad faces)	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008329	facial emotion recognition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases expression	3
Cyclosporine	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
ferrous chloride	decreases 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
jinfukang	affects cotreatment, decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Phthalic Acids	decreases methylation	1
Rifampin	increases expression	1
Smoke	decreases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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