ELAPOR2

Summary

ELAPOR2 (endosome-lysosome associated apoptosis and autophagy regulator family member 2, HGNC:21945) is a protein-coding gene on chromosome 7q21.12, encoding Endosome/lysosome-associated apoptosis and autophagy regulator family member 2 (A8MWY0). Functions as a regulator of the BMP signaling pathway and may be involved in epidermal differentiation.

Predicted to enable BMP receptor binding activity. Predicted to be involved in negative regulation of nervous system development; positive regulation of BMP signaling pathway; and positive regulation of epidermis development. Predicted to be located in plasma membrane. Predicted to be active in membrane.

Source: NCBI Gene 222223 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 163 total
• MANE Select transcript: NM_001142749

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21945
Approved symbol	ELAPOR2
Name	endosome-lysosome associated apoptosis and autophagy regulator family member 2
Location	7q21.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31340, EIG121L
Ensembl gene	ENSG00000164659
Ensembl biotype	protein_coding
OMIM	614048
Entrez	222223

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000394714, ENST00000398276, ENST00000416314, ENST00000423294, ENST00000425689, ENST00000427812, ENST00000444627, ENST00000450689, ENST00000470853, ENST00000474609, ENST00000480216, ENST00000490995, ENST00000860453, ENST00000971399

RefSeq mRNA: 4 — MANE Select: NM_001142749 NM_001142749, NM_001291990, NM_001291991, NM_152748

CCDS: CCDS34677, CCDS47632

Canonical transcript exons

ENST00000450689 — 22 exons

Exon	Start	End
ENSE00001519351	86942018	86942104
ENSE00001532402	86944899	86945046
ENSE00001788122	87059325	87059654
ENSE00001893966	86876906	86880530
ENSE00003470052	86909812	86910001
ENSE00003498538	86907670	86907771
ENSE00003499636	86908447	86908543
ENSE00003523117	86892922	86893100
ENSE00003577750	86912941	86913204
ENSE00003579130	86914723	86914860
ENSE00003584796	86938808	86938960
ENSE00003589505	86918442	86918544
ENSE00003597895	86938126	86938214
ENSE00003600165	86912072	86912245
ENSE00003618169	86919220	86919310
ENSE00003630880	86940010	86940115
ENSE00003641309	86964904	86965024
ENSE00003666558	86897506	86897632
ENSE00003667628	86926736	86926916
ENSE00003673591	86925528	86925656
ENSE00003691412	86947727	86947922
ENSE00003789707	86891724	86891889

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 93.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7818 / max 118.5228, expressed in 1019 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84704	4.1696	856
84705	1.9199	771
84703	0.3015	179
84700	0.2444	65
84702	0.1464	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	93.97	gold quality
secondary oocyte	CL:0000655	93.69	gold quality
calcaneal tendon	UBERON:0003701	92.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.13	gold quality
sperm	CL:0000019	91.28	gold quality
spinal cord	UBERON:0002240	90.98	gold quality
right lung	UBERON:0002167	88.19	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.85	gold quality
upper lobe of lung	UBERON:0008948	87.78	gold quality
mucosa of stomach	UBERON:0001199	87.77	gold quality
upper lobe of left lung	UBERON:0008952	87.76	gold quality
lung	UBERON:0002048	87.56	gold quality
substantia nigra	UBERON:0002038	87.31	gold quality
oocyte	CL:0000023	87.00	gold quality
subcutaneous adipose tissue	UBERON:0002190	87.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.73	gold quality
prefrontal cortex	UBERON:0000451	86.67	gold quality
midbrain	UBERON:0001891	86.67	gold quality
lower lobe of lung	UBERON:0008949	86.66	gold quality
omental fat pad	UBERON:0010414	85.68	gold quality
parietal pleura	UBERON:0002400	85.65	gold quality
peritoneum	UBERON:0002358	85.64	gold quality
dorsal plus ventral thalamus	UBERON:0001897	85.23	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.23	gold quality
tendon	UBERON:0000043	85.07	gold quality
subthalamic nucleus	UBERON:0001906	84.93	gold quality
inferior vagus X ganglion	UBERON:0005363	84.86	gold quality
visceral pleura	UBERON:0002401	84.73	gold quality
tibialis anterior	UBERON:0001385	84.70	silver quality
tibial artery	UBERON:0007610	84.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

192 targeting ELAPOR2, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
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-4789-3P	99.99	70.75	2484
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Literature-anchored findings (GeneRIF, showing 1)

• Similar to EIG121L gene, expressed in various organs of Xenopus during development. (PMID:17475571)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	elapor2b	ENSDARG00000004386
danio_rerio	elapor2a	ENSDARG00000042213
danio_rerio	si:dkey-5i3.1	ENSDARG00000092762
mus_musculus	Elapor2	ENSMUSG00000056004
rattus_norvegicus	Elapor2	ENSRNOG00000005818

Paralogs (1): ELAPOR1 (ENSG00000116299)

Protein

Protein identifiers

Endosome/lysosome-associated apoptosis and autophagy regulator family member 2 — A8MWY0 (reviewed: A8MWY0)

Alternative names: Estrogen-induced gene 121-like protein

All UniProt accessions (7): A8MWY0, C9JA41, C9JFK7, F1LLU5, H7BYL8, H7BZ34, H7C2N5

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a regulator of the BMP signaling pathway and may be involved in epidermal differentiation.

Subcellular location. Cell membrane.

Similarity. Belongs to the ELAPOR family.

Isoforms (3)

UniProt ID	Names	Canonical?
A8MWY0-1	1	yes
A8MWY0-2	2
A8MWY0-3	3

RefSeq proteins (4): NP_001136221, NP_001278919, NP_001278920, NP_689961 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009011	Man6P_isomerase_rcpt-bd_dom_sf	Homologous_superfamily
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR039181	Elapor1/2	Family
IPR044865	MRH_dom	Domain
IPR056606	Elapor1/2_C	Domain
IPR056607	Elapor1/2_MRH	Domain
IPR056608	Elapor1/2_GBD	Domain
IPR056609	Elapor1-like_3rd	Domain
IPR056610	Elapor1/2_TNFR-like	Domain

Pfam: PF23031, PF23032, PF23087, PF23089, PF23091

UniProt features (25 total): disulfide bond 7, splice variant 4, sequence variant 3, glycosylation site 3, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MWY0-F1	76.35	0.24

Functional residue map

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

Post-translational modifications (1): 1018

Disulfide bonds (7): 293–310, 323–346, 326–358, 674–720, 730–758, 827–863, 839–875

Glycosylation sites (3): 169, 405, 691

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 114 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_EPIDERMIS_DEVELOPMENT, ATTCTTT_MIR186, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_RESPONSE_TO_BMP, GOBP_RESPONSE_TO_GROWTH_FACTOR

GO Biological Process (3): positive regulation of BMP signaling pathway (GO:0030513), positive regulation of epidermis development (GO:0045684), negative regulation of nervous system development (GO:0051961)

GO Molecular Function (2): BMP receptor binding (GO:0070700), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
BMP signaling pathway	1
regulation of BMP signaling pathway	1
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
epidermis development	1
regulation of epidermis development	1
positive regulation of developmental process	1
nervous system development	1
negative regulation of developmental process	1
negative regulation of multicellular organismal process	1
regulation of nervous system development	1
transmembrane receptor protein serine/threonine kinase binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELAPOR2	OR5M8	Q8NGP6	575
ELAPOR2	ZNF804B	A4D1E1	475
ELAPOR2	TMEM243	Q9BU79	407
ELAPOR2	COL28A1	Q2UY09	389
ELAPOR2	ZNF287	Q9HBT7	386
ELAPOR2	TPST1	O60507	375
ELAPOR2	TMEM190	Q8WZ59	370
ELAPOR2	OR4K2	Q8NGD2	370
ELAPOR2	ALS2CL	Q60I27	360
ELAPOR2	DCUN1D5	Q9BTE7	358
ELAPOR2	FBXW2	Q9UKT8	350
ELAPOR2	DHRS12	A0PJE2	328
ELAPOR2	OXNAD1	Q96HP4	323
ELAPOR2	POM121L12	Q8N7R1	322
ELAPOR2	RUNDC3B	Q96NL0	320
ELAPOR2	SLC35F3	Q8IY50	320

IntAct

11 interactions, top by confidence:

A	B	Type	Score
ARMH4	ELAPOR2	psi-mi:“MI:0914”(association)	0.500
ARMH4	ELAPOR2	psi-mi:“MI:0915”(physical association)	0.500
ODF2	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	RBFOX3	psi-mi:“MI:0914”(association)	0.350
SDC2	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	ELAPOR2	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC39A8	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
KCNJ2	ELAPOR2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (11): KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-RNA), KIAA1324L (Proximity Label-MS), KIAA1324L (Proximity Label-MS), KIAA1324L (Proximity Label-MS), KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-MS), KIAA1324L (Affinity Capture-MS)

ESM2 similar proteins: A0A2D0TC04, A1A4K5, A7E2Z9, A8MWY0, F1QR43, J3SBP3, J3SEZ3, O14638, O15041, O18756, O94923, O95461, P06802, P0DQQ4, P15396, P22413, P79948, P97675, Q13219, Q13822, Q3UZV7, Q5M900, Q5NDE3, Q5NDE4, Q5NDE5, Q5NDE8, Q5R5M5, Q64610, Q66PG1, Q66PG2, Q66PG3, Q6DYE8, Q6FHJ7, Q6GMK0, Q6NRQ1, Q6P9A2, Q8C1F4, Q8JHF2, Q8K1B9, Q8N6G5

Diamond homologs: A2AFS3, A7E2Z9, A8MWY0, Q3UZV7, Q6DDW2, Q6UXG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	142
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3685 predictions. Top by Δscore:

Variant	Effect	Δscore
7:86891782:T:TA	donor_gain	1.0000
7:86891885:CCAGT:C	acceptor_gain	1.0000
7:86891886:CAGT:C	acceptor_gain	1.0000
7:86891886:CAGTC:C	acceptor_gain	1.0000
7:86891888:GT:G	acceptor_gain	1.0000
7:86891890:C:CC	acceptor_gain	1.0000
7:86891897:G:GC	acceptor_gain	1.0000
7:86892916:ACTT:A	donor_loss	1.0000
7:86892917:CTT:C	donor_loss	1.0000
7:86892918:TTACT:T	donor_loss	1.0000
7:86892919:TACTT:T	donor_loss	1.0000
7:86892920:A:AC	donor_gain	1.0000
7:86892921:C:CT	donor_gain	1.0000
7:86892921:CT:C	donor_gain	1.0000
7:86892921:CTT:C	donor_gain	1.0000
7:86892921:CTTT:C	donor_gain	1.0000
7:86892921:CTTTT:C	donor_gain	1.0000
7:86893099:TC:T	acceptor_gain	1.0000
7:86893100:CCTT:C	acceptor_gain	1.0000
7:86893101:C:CA	acceptor_loss	1.0000
7:86893101:C:CC	acceptor_gain	1.0000
7:86893103:T:TC	acceptor_gain	1.0000
7:86894887:TAGA:T	donor_gain	1.0000
7:86894888:AGAA:A	donor_gain	1.0000
7:86894888:AGAAC:A	donor_gain	1.0000
7:86908445:A:AC	donor_gain	1.0000
7:86908446:C:CC	donor_gain	1.0000
7:86912937:TTA:T	donor_loss	1.0000
7:86912938:TACC:T	donor_loss	1.0000
7:86912940:C:A	donor_loss	1.0000

AlphaMissense

6805 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:86914755:A:G	W567R	1.000
7:86914755:A:T	W567R	1.000
7:86919308:A:G	W468R	1.000
7:86919308:A:T	W468R	1.000
7:86938940:A:G	C290R	1.000
7:86940082:A:G	W259R	1.000
7:86940082:A:T	W259R	1.000
7:86945037:C:A	W172C	1.000
7:86945037:C:G	W172C	1.000
7:86945039:A:G	W172R	1.000
7:86945039:A:T	W172R	1.000
7:86947816:C:A	W139C	1.000
7:86947816:C:G	W139C	1.000
7:86947818:A:G	W139R	1.000
7:86947818:A:T	W139R	1.000
7:86947848:A:G	S129P	1.000
7:86947874:C:G	C120S	1.000
7:86947875:A:T	C120S	1.000
7:86947913:C:G	C107S	1.000
7:86947913:C:T	C107Y	1.000
7:86947914:A:G	C107R	1.000
7:86947914:A:T	C107S	1.000
7:86964974:C:A	W80C	1.000
7:86964974:C:G	W80C	1.000
7:86964996:C:G	C73S	1.000
7:86964997:A:T	C73S	1.000
7:86893066:C:G	C907S	0.999
7:86893067:A:T	C907S	0.999
7:86897558:C:G	C878S	0.999
7:86897559:A:T	C878S	0.999

dbSNP variants (sampled 300 via entrez): RS1000002492 (7:86891497 T>C,G), RS1000024581 (7:86988292 T>C), RS1000033523 (7:86953519 T>C), RS1000047375 (7:86922962 A>T), RS1000050662 (7:87041876 G>A,T), RS1000119616 (7:87004829 A>C), RS1000120828 (7:87043031 G>A), RS1000156378 (7:86898344 T>C), RS1000200146 (7:87058577 C>T), RS1000227039 (7:86896823 C>A,G,T), RS1000234216 (7:87027057 T>G), RS1000235592 (7:86916361 A>C,G), RS1000236340 (7:86962572 A>G), RS1000243809 (7:86916009 A>G), RS1000250923 (7:87059622 T>C)

Disease associations

OMIM: gene MIM:614048 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004521_94	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST004946_82	Schizophrenia	3.000000e-10
GCST005655_4	Seborrheic dermatitis	1.000000e-07
GCST006803_16	Schizophrenia	4.000000e-14
GCST008162_24	Hip circumference	3.000000e-06
GCST009600_110	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-10

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
Valproic Acid	affects expression, decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	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
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Dexamethasone	affects cotreatment, increases expression	1
Gallic Acid	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	affects expression	1
Sulindac	increases expression	1
Thiram	increases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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