PVALEF

Summary

PVALEF (parvalbumin like EF-hand containing, HGNC:40053) is a protein-coding gene on chromosome 17q25.3, encoding Parvalbumin-like EF-hand-containing protein (A0A1B0GWK0).

Predicted to enable calcium ion binding activity. Predicted to be involved in skeletal muscle contraction. Predicted to be part of troponin complex.

Source: NCBI Gene 388428 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001354639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40053
Approved symbol	PVALEF
Name	parvalbumin like EF-hand containing
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000225180
Ensembl biotype	protein_coding
Entrez	388428

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 retained_intron, 1 protein_coding

ENST00000414089, ENST00000571031, ENST00000637878

RefSeq mRNA: 1 — MANE Select: NM_001354639 NM_001354639

CCDS: CCDS86647

Canonical transcript exons

ENST00000637878 — 7 exons

Exon	Start	End
ENSE00001592599	81166677	81166844
ENSE00001646057	81178918	81179152
ENSE00001776464	81165507	81165747
ENSE00003792320	81182965	81183166
ENSE00003795413	81181559	81181694
ENSE00003799199	81181123	81181332
ENSE00003801140	81181966	81182081

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 55.84.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	55.84	gold quality
cerebellum	UBERON:0002037	55.78	gold quality
cerebellar cortex	UBERON:0002129	55.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.35	gold quality
primary visual cortex	UBERON:0002436	51.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	48.89	gold quality
sural nerve	UBERON:0015488	48.09	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	47.52	gold quality
right frontal lobe	UBERON:0002810	47.05	gold quality
frontal cortex	UBERON:0001870	46.37	gold quality
brain	UBERON:0000955	46.24	gold quality
prefrontal cortex	UBERON:0000451	46.12	gold quality
cerebral cortex	UBERON:0000956	46.07	gold quality
putamen	UBERON:0001874	45.95	gold quality
nucleus accumbens	UBERON:0001882	45.22	gold quality
Ammon’s horn	UBERON:0001954	44.77	gold quality
caudate nucleus	UBERON:0001873	44.59	gold quality
superior frontal gyrus	UBERON:0002661	44.52	silver quality
anterior cingulate cortex	UBERON:0009835	44.06	gold quality
temporal lobe	UBERON:0001871	44.02	gold quality
amygdala	UBERON:0001876	43.86	gold quality
substantia nigra	UBERON:0002038	43.75	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	42.90	gold quality
bone marrow cell	CL:0002092	42.70	gold quality
hypothalamus	UBERON:0001898	42.36	gold quality
pituitary gland	UBERON:0000007	39.72	silver quality
duodenum	UBERON:0002114	37.70	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
adenohypophysis	UBERON:0002196	36.80	silver quality
granulocyte	CL:0000094	36.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Parvalbumin-like EF-hand-containing protein — A0A1B0GWK0 (reviewed: A0A1B0GWK0)

All UniProt accessions (1): A0A1B0GWK0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the parvalbumin family.

RefSeq proteins (1): NP_001341568* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR008080	Parvalbumin	Family
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site

Pfam: PF13499

UniProt features (12 total): binding site 9, domain 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GWK0-F1	77.74	0.07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (9): 113; 120; 68; 70; 72; 74; 76; 79; 109

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GGGTGGRR_PAX4_03, GOBP_SKELETAL_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, GOBP_MUSCLE_SYSTEM_PROCESS, GOBP_NEUROMUSCULAR_PROCESS, GOCC_MYOFILAMENT, GOBP_STRIATED_MUSCLE_CONTRACTION, GOCC_TROPONIN_COMPLEX, GOCC_SUPRAMOLECULAR_COMPLEX, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOCC_SUPRAMOLECULAR_POLYMER, DACH1_TARGET_GENES, RYBP_TARGET_GENES, ZNF528_TARGET_GENES

GO Biological Process (1): skeletal muscle contraction (GO:0003009)

GO Molecular Function (2): calcium ion binding (GO:0005509), metal ion binding (GO:0046872)

GO Cellular Component (1): troponin complex (GO:0005861)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
striated muscle contraction	1
musculoskeletal movement	1
metal ion binding	1
cation binding	1
striated muscle thin filament	1
protein-containing complex	1

Protein interactions and networks

STRING

1015 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PVALEF	AATK	Q6ZMQ8	451
PVALEF	HAUS3	Q68CZ6	369
PVALEF	CDKL3	Q8IVW4	300
PVALEF	RNF123	Q5XPI4	232
PVALEF	UBAC1	Q9BSL1	229
PVALEF	SPC24	Q8NBT2	211
PVALEF	KRT6B	P04259	187
PVALEF	CHFR	Q96EP1	176
PVALEF	E2F8	A0AVK6	172
PVALEF	CNN2	Q99439	166
PVALEF	S100A2	P29034	164
PVALEF	RABIF	P47224	162
PVALEF	CLSPN	Q9HAW4	159
PVALEF	PTF1A	Q7RTS3	142
PVALEF	EEF2	P13639	123

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GWK0, O01305, O35508, P02613, P02615, P02616, P02624, P02626, P02627, P02629, P02630, P02631, P02637, P04109, P04110, P04111, P04573, P05941, P09485, P0CE71, P0CE72, P13833, P15844, P18087, P19753, P21788, P25027, P30187, P30563, P34368, P41045, P43305, P51434, P51879, P80026, P80050, P80079, P80080, P82978, Q03975

Diamond homologs: A0A1B0GWK0, A0A7M4EAX1, D3GME4, P02597, P02614, P02615, P02616, P02617, P02618, P02619, P02620, P02621, P02622, P02623, P02624, P02625, P02628, P02629, P02631, P04464, P05419, P05939, P05940, P05941, P09227, P0CE72, P19753, P20472, P28582, P30187, P30563, P32848, P43305, P49101, P51879, P53683, P56503, P59747, P80026, P80050

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

65 predictions. Top by Δscore:

Variant	Effect	Δscore
17:81165930:GGACT:G	donor_loss	0.9600
17:81165931:GACT:G	donor_loss	0.9600
17:81165932:ACTCA:A	donor_loss	0.9600
17:81165933:CT:C	donor_loss	0.9600
17:81165934:TCAC:T	donor_loss	0.9600
17:81165935:CAC:C	donor_loss	0.9600
17:81165936:A:AG	donor_loss	0.9600
17:81165937:C:CG	donor_loss	0.9600
17:81165929:GGGAC:G	donor_loss	0.9400
17:81165936:A:AC	donor_gain	0.9400
17:81165937:C:CC	donor_gain	0.9400
17:81165677:GTTA:G	donor_loss	0.8700
17:81165678:TTA:T	donor_loss	0.8700
17:81165679:TACCT:T	donor_loss	0.8700
17:81165680:A:AG	donor_loss	0.8700
17:81165681:C:T	donor_loss	0.8700
17:81165824:T:TG	acceptor_gain	0.8700
17:81165682:C:A	donor_loss	0.8000
17:81165825:C:G	acceptor_gain	0.7200
17:81165637:T:A	donor_gain	0.7000
17:81165825:C:CT	acceptor_gain	0.6900
17:81165676:AGTT:A	donor_loss	0.6800
17:81165937:CCGG:C	donor_gain	0.6600
17:81165936:AC:A	donor_gain	0.6300
17:81165937:CC:C	donor_gain	0.6300
17:81165937:CCG:C	donor_gain	0.6000
17:81165937:CCGGG:C	donor_gain	0.6000
17:81165826:G:T	acceptor_gain	0.5900
17:81165820:GGGC:G	acceptor_gain	0.5800
17:81165822:GCTC:G	acceptor_gain	0.5700

AlphaMissense

908 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:81181642:T:C	F64L	0.965
17:81181644:C:A	F64L	0.965
17:81181644:C:G	F64L	0.965
17:81182967:T:C	F121L	0.939
17:81182969:T:A	F121L	0.939
17:81182969:T:G	F121L	0.939
17:81182070:T:C	I116T	0.923
17:81181672:T:C	F74L	0.916
17:81181674:C:A	F74L	0.916
17:81181674:C:G	F74L	0.916
17:81182070:T:G	I116S	0.897
17:81182024:G:C	A101P	0.886
17:81181579:T:C	F43L	0.877
17:81181581:C:A	F43L	0.877
17:81181581:C:G	F43L	0.877
17:81182968:T:C	F121S	0.872
17:81181676:T:A	I75N	0.862
17:81181666:A:C	S72R	0.861
17:81181668:T:A	S72R	0.861
17:81181668:T:G	S72R	0.861
17:81181643:T:C	F64S	0.855
17:81181564:T:C	F38L	0.852
17:81181566:C:A	F38L	0.852
17:81181566:C:G	F38L	0.852
17:81181966:G:C	K81N	0.851
17:81181966:G:T	K81N	0.851
17:81182070:T:A	I116N	0.827
17:81182030:G:C	A103P	0.823
17:81181639:G:C	A63P	0.805
17:81181643:T:G	F64C	0.805

dbSNP variants (sampled 300 via entrez): RS1000075806 (17:81167786 G>A), RS1000239539 (17:81182865 C>A,T), RS1000264795 (17:81172154 T>C), RS1000293254 (17:81183093 C>A), RS1000447476 (17:81179050 C>T), RS1000726420 (17:81177259 A>T), RS1000730818 (17:81179822 G>A,C), RS1000875965 (17:81174209 C>G,T), RS1000960244 (17:81171184 C>T), RS1000987849 (17:81169425 C>A,T), RS1001028097 (17:81167067 C>A,T), RS1001092363 (17:81169845 T>C), RS1001109807 (17:81164070 G>A), RS1001182769 (17:81180043 G>A,C), RS1001241271 (17:81168526 TG>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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