AMMECR1L

Summary

AMMECR1L (AMMECR1 like, HGNC:28658) is a protein-coding gene on chromosome 2q14.3, encoding AMMECR1-like protein (Q6DCA0).

Predicted to be active in nucleus.

Source: NCBI Gene 83607 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total — 5 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001199140

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28658
Approved symbol	AMMECR1L
Name	AMMECR1 like
Location	2q14.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC4268
Ensembl gene	ENSG00000144233
Ensembl biotype	protein_coding
Entrez	83607

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 7 nonsense_mediated_decay

ENST00000272647, ENST00000393001, ENST00000679574, ENST00000679797, ENST00000680045, ENST00000680145, ENST00000680246, ENST00000680431, ENST00000680603, ENST00000680886, ENST00000681313, ENST00000681549, ENST00000681844, ENST00000695238

RefSeq mRNA: 4 — MANE Select: NM_001199140 NM_001199140, NM_001410953, NM_001410954, NM_031445

CCDS: CCDS2152, CCDS92863, CCDS92865

Canonical transcript exons

ENST00000272647 — 8 exons

Exon	Start	End
ENSE00000964141	127871249	127871359
ENSE00000964142	127870814	127870928
ENSE00000964143	127869454	127869544
ENSE00000964144	127866900	127866996
ENSE00001132891	127873828	127874272
ENSE00001206207	127884203	127884312
ENSE00001469193	127885810	127885956
ENSE00001513900	127861630	127865205

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 98.06.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0381 / max 17.4106, expressed in 11 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30583	0.0381	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	98.06	gold quality
visceral pleura	UBERON:0002401	96.02	gold quality
parietal pleura	UBERON:0002400	95.45	gold quality
secondary oocyte	CL:0000655	95.27	gold quality
tibia	UBERON:0000979	95.16	gold quality
germinal epithelium of ovary	UBERON:0001304	94.74	gold quality
endothelial cell	CL:0000115	94.60	gold quality
palpebral conjunctiva	UBERON:0001812	92.90	gold quality
pancreatic ductal cell	CL:0002079	92.84	gold quality
esophagus squamous epithelium	UBERON:0006920	92.81	gold quality
cartilage tissue	UBERON:0002418	92.68	gold quality
sperm	CL:0000019	92.56	gold quality
upper arm skin	UBERON:0004263	92.04	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.87	gold quality
gingival epithelium	UBERON:0001949	91.77	gold quality
oocyte	CL:0000023	91.41	gold quality
amniotic fluid	UBERON:0000173	91.08	gold quality
middle temporal gyrus	UBERON:0002771	91.05	gold quality
epithelium of nasopharynx	UBERON:0001951	90.57	gold quality
gingiva	UBERON:0001828	90.36	gold quality
adult organism	UBERON:0007023	89.80	gold quality
ileal mucosa	UBERON:0000331	89.56	gold quality
cauda epididymis	UBERON:0004360	89.21	gold quality
decidua	UBERON:0002450	89.00	gold quality
left ventricle myocardium	UBERON:0006566	88.68	gold quality
corpus epididymis	UBERON:0004359	88.65	gold quality
caput epididymis	UBERON:0004358	88.60	gold quality
stromal cell of endometrium	CL:0002255	88.58	gold quality
layer of synovial tissue	UBERON:0007616	88.07	gold quality
urethra	UBERON:0000057	88.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

187 targeting AMMECR1L, 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-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4715-3P	99.98	66.03	670
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6793-5P	99.97	65.95	758

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ammecr1l	ENSMUSG00000041915
rattus_norvegicus	Ammecr1l	ENSRNOG00000016250
drosophila_melanogaster	CG5902	FBGN0039136
caenorhabditis_elegans		WBGENE00011303

Paralogs (1): AMMECR1 (ENSG00000101935)

Protein

Protein identifiers

AMMECR1-like protein — Q6DCA0 (reviewed: Q6DCA0)

All UniProt accessions (11): Q6DCA0, A0A7P0T8F5, A0A7P0T9C2, A0A7P0TAB6, A0A7P0TAB7, A0A7P0TAH0, A0A7P0TAX1, A0A7P0TBJ3, A0A7P0Z454, A0A7P0Z4N3, A0A8V8THZ2

RefSeq proteins (4): NP_001186069, NP_001397882, NP_001397883, NP_113633 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002733	AMMECR1_domain	Domain
IPR023473	AMMECR1	Family
IPR027485	AMMECR1_N	Homologous_superfamily
IPR036071	AMMECR1_dom_sf	Homologous_superfamily

Pfam: PF01871

UniProt features (5 total): chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6DCA0-F1	75.64	0.61

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): 74

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 177 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, TTCCGTT_MIR191, TTTGTAG_MIR520D, AP2_Q3, GGGTGGRR_PAX4_03, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, EVI1_05, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP, TCF4_Q5, CATRRAGC_UNKNOWN, WCTCNATGGY_UNKNOWN, USF_01, ACATTCC_MIR1_MIR206

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMMECR1L	TMUB2	Q71RG4	584
AMMECR1L	GPATCH3	Q96I76	571
AMMECR1L	DDX50	Q9BQ39	552
AMMECR1L	FCF1	Q9Y324	546
AMMECR1L	EIF2B4	Q9UI10	545
AMMECR1L	CNOT10	Q9H9A5	543
AMMECR1L	NOL7	Q9UMY1	543
AMMECR1L	ZKSCAN5	Q9Y2L8	542
AMMECR1L	COG7	P83436	537
AMMECR1L	SLC4A1AP	Q9BWU0	525
AMMECR1L	PRPF38A	Q8NAV1	516
AMMECR1L	MTMR14	Q8NCE2	512
AMMECR1L	ZC3H14	Q6PJT7	490
AMMECR1L	EDC3	Q96F86	479
AMMECR1L	ARMH3	Q5T2E6	478

IntAct

18 interactions, top by confidence:

A	B	Type	Score
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
AMMECR1L	FNTA	psi-mi:“MI:0914”(association)	0.530
	AMMECR1L	psi-mi:“MI:0407”(direct interaction)	0.440
AMMECR1L	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
SRPK1	AMMECR1L	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
AMMECR1L	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350
MAPK14	PRKY	psi-mi:“MI:0914”(association)	0.350
AMMECR1L	FNTA	psi-mi:“MI:0914”(association)	0.350
MTSS2	CHEK1	psi-mi:“MI:0914”(association)	0.350
RAB31	RAB5A	psi-mi:“MI:0914”(association)	0.350
AMMECR1L		psi-mi:“MI:0914”(association)	0.350
	EBAG9	psi-mi:“MI:0914”(association)	0.350
AMMECR1L	IKBKG	psi-mi:“MI:0407”(direct interaction)	0.000

BioGRID (30): AMMECR1L (Affinity Capture-MS), MACF1 (Affinity Capture-MS), FNTA (Affinity Capture-MS), PGGT1B (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS), PGGT1B (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS), FNTA (Affinity Capture-MS), MACF1 (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS), AMMECR1L (Proximity Label-MS), AMMECR1L (Proximity Label-MS), AMMECR1L (Affinity Capture-MS), AMMECR1L (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JV04, D4A1F2, F1MF74, F1RA39, O00763, O08796, O42611, O75038, O94851, P51400, P51432, P55265, P55266, P70531, P78563, P97616, Q01970, Q3KR54, Q4R7N3, Q4U2V3, Q5EBA1, Q5RDQ3, Q5SUE7, Q5ZLV4, Q6DCA0, Q7ZU92, Q80YD1, Q8BMI3, Q8BML1, Q8IVH8, Q8IYB8, Q8JZZ6, Q8K394, Q8K4M9, Q91XL9, Q91ZS8, Q969R2, Q96MI9, Q99JE6, Q99JP0

Diamond homologs: A1RT97, A1RY70, A3DP40, A4WGW1, A6UTA8, A8MBB6, B6YW91, C3MJ10, C3MYC8, C3MZQ7, C3N830, C3NF81, C4KIY8, C5A6U0, O26945, O28310, O57770, O67431, Q0W787, Q12WB4, Q46BJ4, Q4JAL7, Q58220, Q5JFK7, Q5RAS7, Q5RDQ3, Q6DCA0, Q74M72, Q8JZZ6, Q8PZK8, Q8R8N9, Q8TK33, Q8TY18, Q8TZL1, Q8ZYJ4, Q976G0, Q978N1, Q980T4, Q9HLJ2, Q9HMH2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	1
Uncertain significance	27
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	Pathogenic
153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	Pathogenic
2422380	NC_000002.11:g.(?127451420)(129076137_?)del	Pathogenic
60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	Pathogenic
60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	Pathogenic
148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	Likely pathogenic

SpliceAI

1401 predictions. Top by Δscore:

Variant	Effect	Δscore
2:127866992:CCAGT:C	acceptor_gain	1.0000
2:127866993:CAGT:C	acceptor_gain	1.0000
2:127866993:CAGTC:C	acceptor_gain	1.0000
2:127866997:C:CC	acceptor_gain	1.0000
2:127869449:CTCA:C	donor_loss	1.0000
2:127869450:TCA:T	donor_loss	1.0000
2:127869451:CA:C	donor_loss	1.0000
2:127869452:ACCTT:A	donor_loss	1.0000
2:127869541:CTAC:C	acceptor_gain	1.0000
2:127870927:CA:C	acceptor_gain	1.0000
2:127870929:C:CC	acceptor_gain	1.0000
2:127871355:GCGGA:G	acceptor_gain	1.0000
2:127871356:CGGA:C	acceptor_gain	1.0000
2:127871356:CGGAC:C	acceptor_gain	1.0000
2:127871360:C:CC	acceptor_gain	1.0000
2:127873826:A:AC	donor_gain	1.0000
2:127873827:C:CT	donor_gain	1.0000
2:127873827:CT:C	donor_gain	1.0000
2:127873827:CTA:C	donor_gain	1.0000
2:127873827:CTAG:C	donor_gain	1.0000
2:127873827:CTAGG:C	donor_gain	1.0000
2:127884201:A:AC	donor_gain	1.0000
2:127884202:C:CC	donor_gain	1.0000
2:127866994:AGT:A	acceptor_gain	0.9900
2:127866994:AGTC:A	acceptor_loss	0.9900
2:127866995:GT:G	acceptor_gain	0.9900
2:127866996:TC:T	acceptor_loss	0.9900
2:127866997:CTGGG:C	acceptor_loss	0.9900
2:127866998:T:A	acceptor_loss	0.9900
2:127869544:CC:C	acceptor_loss	0.9900

AlphaMissense

2007 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:127865168:A:C	Y287D	1.000
2:127865196:A:C	S277R	1.000
2:127865196:A:T	S277R	1.000
2:127865198:T:G	S277R	1.000
2:127865203:T:C	Y275C	1.000
2:127865203:T:G	Y275S	1.000
2:127865204:A:C	Y275D	1.000
2:127865204:A:G	Y275H	1.000
2:127865204:A:T	Y275N	1.000
2:127866906:A:G	L272P	1.000
2:127866920:T:A	R267S	1.000
2:127866920:T:G	R267S	1.000
2:127866921:C:G	R267T	1.000
2:127866951:C:T	G257D	1.000
2:127866954:C:A	G256V	1.000
2:127866954:C:T	G256D	1.000
2:127866955:C:G	G256R	1.000
2:127866956:T:A	K255N	1.000
2:127866956:T:G	K255N	1.000
2:127866957:T:A	K255I	1.000
2:127866957:T:G	K255T	1.000
2:127866958:T:C	K255E	1.000
2:127866958:T:G	K255Q	1.000
2:127866963:A:C	L253R	1.000
2:127866963:A:G	L253P	1.000
2:127866963:A:T	L253H	1.000
2:127866965:C:A	L252F	1.000
2:127866965:C:G	L252F	1.000
2:127866966:A:C	L252W	1.000
2:127866970:A:G	S251P	1.000

dbSNP variants (sampled 300 via entrez): RS1000280971 (2:127861841 T>C), RS1000442092 (2:127862101 A>C), RS1000691840 (2:127867714 C>A), RS1000697803 (2:127879140 A>T), RS1000769841 (2:127879351 T>G), RS1000875687 (2:127885682 G>A), RS1001026100 (2:127865754 T>C), RS1001040918 (2:127872413 C>A), RS1001056969 (2:127866167 A>G), RS1001129614 (2:127863792 T>G), RS1001326076 (2:127886192 C>A), RS1001336069 (2:127861889 T>C), RS1001377505 (2:127880628 C>T), RS1001436578 (2:127880788 A>ACC), RS1001581296 (2:127879429 A>G)

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

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Gallic Acid	decreases expression	1
Hydrogen Peroxide	affects expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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