LHFPL7

Summary

LHFPL7 (LHFPL tetraspan subfamily member 7, HGNC:33725) is a protein-coding gene on chromosome 22q11.23, encoding LHFPL tetraspan subfamily member 7 protein (Q6ICI0).

Predicted to be active in membrane.

Source: NCBI Gene 255349 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001388199

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33725
Approved symbol	LHFPL7
Name	LHFPL tetraspan subfamily member 7
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Aliases	bA9F11.1
Ensembl gene	ENSG00000206069
Ensembl biotype	protein_coding
Entrez	255349

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000407886, ENST00000640159

RefSeq mRNA: 2 — MANE Select: NM_001388199 NM_001001663, NM_001388199

CCDS: CCDS33624, CCDS93134

Canonical transcript exons

ENST00000640159 — 4 exons

Exon	Start	End
ENSE00003608129	24938149	24938287
ENSE00003802158	24939335	24939552
ENSE00003802755	24935098	24935595
ENSE00003808875	24946572	24946694

Expression profiles

Bgee: expression breadth ubiquitous, 106 present calls, max score 82.63.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.46	gold quality
saliva-secreting gland	UBERON:0001044	66.67	gold quality
minor salivary gland	UBERON:0001830	66.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.78	gold quality
body of stomach	UBERON:0001161	59.24	gold quality
skin of abdomen	UBERON:0001416	58.31	gold quality
zone of skin	UBERON:0000014	57.90	gold quality
skin of leg	UBERON:0001511	57.84	gold quality
stomach	UBERON:0000945	57.34	gold quality
cerebellar cortex	UBERON:0002129	56.97	gold quality
cerebellar hemisphere	UBERON:0002245	56.90	gold quality
cerebellum	UBERON:0002037	56.79	gold quality
right uterine tube	UBERON:0001302	56.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.73	gold quality
nucleus accumbens	UBERON:0001882	55.51	gold quality
pituitary gland	UBERON:0000007	52.88	gold quality
descending thoracic aorta	UBERON:0002345	52.45	gold quality
fundus of stomach	UBERON:0001160	52.43	gold quality
caudate nucleus	UBERON:0001873	52.40	gold quality
tibial artery	UBERON:0007610	52.31	gold quality
popliteal artery	UBERON:0002250	52.24	gold quality
mucosa of transverse colon	UBERON:0004991	52.13	gold quality
endometrium	UBERON:0001295	51.98	gold quality
putamen	UBERON:0001874	51.61	gold quality
vermiform appendix	UBERON:0001154	51.18	gold quality
adenohypophysis	UBERON:0002196	50.51	gold quality
endocervix	UBERON:0000458	50.12	gold quality
ascending aorta	UBERON:0001496	49.85	gold quality
thoracic aorta	UBERON:0001515	49.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.28

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-35m8.1	ENSDARG00000094587
mus_musculus	Lhfpl7	ENSMUSG00000066964
rattus_norvegicus	Lhfpl7	ENSRNOG00000087492
caenorhabditis_elegans		WBGENE00009155

Paralogs (6): LHFPL2 (ENSG00000145685), LHFPL4 (ENSG00000156959), LHFPL1 (ENSG00000182508), LHFPL6 (ENSG00000183722), LHFPL3 (ENSG00000187416), LHFPL5 (ENSG00000197753)

Protein

Protein identifiers

LHFPL tetraspan subfamily member 7 protein — Q6ICI0 (reviewed: Q6ICI0)

Alternative names: Transmembrane protein 211

All UniProt accessions (2): Q6ICI0, A0A0C4DG04

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM211 family.

RefSeq proteins (2): NP_001001663, NP_001375128* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019372	LHFPL	Family

Pfam: PF10242

UniProt features (5 total): transmembrane region 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ICI0-F1	81.40	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): MARTENS_TRETINOIN_RESPONSE_UP, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, ZNF329_TARGET_GENES, DESCARTES_MAIN_FETAL_PARIETAL_AND_CHIEF_CELLS, GSE27241_CTRL_VS_DIGOXIN_TREATED_CD4_TCELL_IN_TH17_POLARIZING_CONDITIONS_UP, chr22q11

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LHFPL7	ZNF33B	Q06732	587
LHFPL7	ZNF418	Q8TF45	557
LHFPL7	TMEM221	A6NGB7	552
LHFPL7	CIMIP2C	A6NJV1	506
LHFPL7	GRAMD1C	Q8IYS0	500
LHFPL7	ZNF92	Q03936	493
LHFPL7	GPR137C	Q8N3F9	488
LHFPL7	VMA22	Q96NT0	483
LHFPL7	OVOL3	O00110	478
LHFPL7	TMEM132E	Q6IEE7	463
LHFPL7	MSLNL	Q96KJ4	453
LHFPL7	GPR162	Q16538	449
LHFPL7	CFAP92	Q9ULG3	445
LHFPL7	SVOPL	Q8N434	439
LHFPL7	TMEM171	Q8WVE6	436

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8RY99, A0PK11, A9UL59, B2RVW2, B4L184, D3ZFW5, E9Q9H8, O42582, P23290, P35801, P35802, P35803, P36963, P36964, P36965, P49111, P51674, P56749, P58418, P79826, Q0IIL2, Q0VD07, Q11085, Q13491, Q2YDD6, Q3T110, Q53R12, Q5R603, Q5R9K1, Q5R9Q3, Q64302, Q6AYR5, Q6ICI0, Q6UX40, Q812E9, Q8BHH8, Q8CJ58, Q8K445, Q8NCR9, Q8VHW1

Diamond homologs: A9UL59, Q3UUA0, Q6ICI0, Q6P0C6, Q5BJS2, Q5PRC1, Q6ZUX7, Q8BGA2, Q8BM86, Q9Y693

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	10
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

534 predictions. Top by Δscore:

Variant	Effect	Δscore
22:24935602:A:AC	acceptor_gain	0.9900
22:24935602:A:C	acceptor_gain	0.9900
22:24935606:C:CT	acceptor_gain	0.9900
22:24935607:A:T	acceptor_gain	0.9900
22:24946571:CCACA:C	donor_gain	0.9900
22:24935596:C:CC	acceptor_gain	0.9800
22:24938144:TTTAC:T	donor_loss	0.9800
22:24938145:TTA:T	donor_loss	0.9800
22:24938146:TA:T	donor_loss	0.9800
22:24938148:C:CT	donor_loss	0.9800
22:24938142:GATTT:G	donor_loss	0.9700
22:24938143:ATTT:A	donor_loss	0.9700
22:24946571:CCA:C	donor_gain	0.9700
22:24946599:TGGCC:T	donor_gain	0.9700
22:24946602:C:CT	donor_gain	0.9700
22:24935592:GTAG:G	acceptor_gain	0.9600
22:24935592:GTAGC:G	acceptor_loss	0.9600
22:24935593:TAG:T	acceptor_gain	0.9600
22:24935593:TAGC:T	acceptor_loss	0.9600
22:24935594:AGC:A	acceptor_loss	0.9600
22:24935595:GC:G	acceptor_loss	0.9600
22:24935596:CTGG:C	acceptor_loss	0.9600
22:24938151:G:A	donor_gain	0.9600
22:24943413:C:A	acceptor_gain	0.9600
22:24946564:AGAC:A	donor_loss	0.9600
22:24946565:GACTC:G	donor_loss	0.9600
22:24946566:AC:A	donor_loss	0.9600
22:24946567:C:CA	donor_loss	0.9600
22:24946568:T:TA	donor_loss	0.9600
22:24946571:CCAC:C	donor_loss	0.9600

AlphaMissense

1305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:24939476:G:C	S20R	0.925
22:24939476:G:T	S20R	0.925
22:24939478:T:G	S20R	0.925
22:24935564:G:C	F124L	0.900
22:24935564:G:T	F124L	0.900
22:24935566:A:G	F124L	0.900
22:24939371:G:C	F55L	0.898
22:24939371:G:T	F55L	0.898
22:24939373:A:G	F55L	0.898
22:24939434:A:C	F34L	0.885
22:24939434:A:T	F34L	0.885
22:24939436:A:G	F34L	0.885
22:24938260:A:G	W77R	0.863
22:24938260:A:T	W77R	0.863
22:24939460:A:G	W26R	0.860
22:24939460:A:T	W26R	0.860
22:24938263:C:G	G76R	0.832
22:24939440:G:C	F32L	0.832
22:24939440:G:T	F32L	0.832
22:24939442:A:G	F32L	0.832
22:24939458:C:A	W26C	0.809
22:24939458:C:G	W26C	0.809
22:24939340:A:G	W66R	0.801
22:24939340:A:T	W66R	0.801
22:24935578:C:G	G120R	0.799
22:24935480:C:A	W152C	0.796
22:24935480:C:G	W152C	0.796
22:24939338:C:A	W66C	0.790
22:24939338:C:G	W66C	0.790
22:24935482:A:G	W152R	0.788

dbSNP variants (sampled 300 via entrez): RS1000121876 (22:24945508 G>T), RS1000307441 (22:24943647 C>T), RS1000475775 (22:24934846 A>G), RS1000700655 (22:24939538 G>C,T), RS1000839808 (22:24946473 C>A,T), RS1001043034 (22:24941660 G>C,T), RS1001069459 (22:24941332 C>G), RS1001118872 (22:24946655 C>A), RS1001469411 (22:24936186 T>C,G), RS1001638884 (22:24942711 T>C), RS1001839795 (22:24947992 G>C,T), RS1002439794 (22:24945030 G>A,C), RS1002537231 (22:24936591 T>G), RS1002957391 (22:24936321 C>T), RS1003049849 (22:24944022 G>A)

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

2 associations (top):

Study	Trait	p-value
GCST002481_6	Acne (severe)	6.000000e-07
GCST002911_12	Calcium levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004838	calcium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Methapyrilene	decreases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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