LCE7A

Summary

LCE7A (late cornified envelope 7A, HGNC:55921) is a protein-coding gene on chromosome 1q21.3, encoding Late cornified envelope protein 7A (P0DV60). Precursors of the cornified envelope of the stratum corneum.

Predicted to be involved in keratinization.

Source: NCBI Gene 122526777 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001395990

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55921
Approved symbol	LCE7A
Name	late cornified envelope 7A
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000285946
Ensembl biotype	protein_coding
Entrez	122526777

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000650277

RefSeq mRNA: 1 — MANE Select: NM_001395990 NM_001395990

CCDS: CCDS91055

Canonical transcript exons

ENST00000650277 — 2 exons

Exon	Start	End
ENSE00003831790	152859996	152860031
ENSE00003978249	152860677	152861252

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 63.82.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	63.82	gold quality
zone of skin	UBERON:0000014	60.69	gold quality
skin of abdomen	UBERON:0001416	56.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
urinary bladder	UBERON:0001255	31.42	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right lung	UBERON:0002167	29.98	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.48	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.67	gold quality
leukocyte	CL:0000738	27.66	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.31	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2210017I01Rik	ENSMUSG00000103523
rattus_norvegicus	Lce7a	ENSRNOG00000065845

Protein

Protein identifiers

Late cornified envelope protein 7A — P0DV60 (reviewed: P0DV60)

All UniProt accessions (2): P0DV60, A0A3B3IT34

UniProt curated annotations — full annotation on UniProt →

Function. Precursors of the cornified envelope of the stratum corneum.

Similarity. Belongs to the LCE family.

RefSeq proteins (1): NP_001382919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028205	LCE	Family

Pfam: PF14672

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DV60-F1	53.73	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, chr1q21, GOBP_KERATINOCYTE_DIFFERENTIATION, GOBP_EPITHELIAL_CELL_DIFFERENTIATION

GO Biological Process (2): keratinization (GO:0031424), epidermis development (GO:0008544)

GO Molecular Function (0):

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
keratinocyte differentiation	1
multicellular organismal process	1
tissue development	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1A580, A2A591, A2A5X4, A2A5X5, A8MUX0, A8MX34, B2RUR4, O13152, O93499, O93500, P02444, P02445, P02446, P02447, P02449, P02450, P02451, P04458, P07521, P08335, P0DV60, P20307, P20308, P25692, P60329, Q24JX8, Q24JX9, Q3LI81, Q3LI83, Q4KL71, Q5T749, Q5T750, Q5TA77, Q6PEX3, Q6R648, Q6S343, Q7TQM5, Q8IUC1, Q92012, Q98U05

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

607 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:152860887:T:C	F64L	0.752
1:152860889:T:A	F64L	0.752
1:152860889:T:G	F64L	0.752
1:152860836:A:C	S47R	0.656
1:152860838:T:A	S47R	0.656
1:152860838:T:G	S47R	0.656
1:152860896:T:C	F67L	0.645
1:152860898:C:A	F67L	0.645
1:152860898:C:G	F67L	0.645
1:152860854:T:C	F53L	0.615
1:152860856:T:A	F53L	0.615
1:152860856:T:G	F53L	0.615

dbSNP variants (sampled 300 via entrez): RS1000992737 (1:152860238 G>C), RS1001236789 (1:152860415 G>T), RS1004347384 (1:152859422 T>C), RS1004730356 (1:152860916 G>T), RS1004849200 (1:152859390 G>A,C,T), RS1005083144 (1:152860748 C>A), RS1005398655 (1:152858383 G>A,T), RS1005749476 (1:152860938 G>A), RS1007045518 (1:152861262 C>A,T), RS1008494320 (1:152861026 C>A), RS1008523636 (1:152857998 G>A), RS1008756158 (1:152861392 G>A), RS1010018083 (1:152858903 T>A), RS1011652629 (1:152860007 G>A), RS1012325488 (1:152860430 T>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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