ERICH4

Summary

ERICH4 (glutamate rich 4, HGNC:34497) is a protein-coding gene on chromosome 19q13.2, encoding Glutamate-rich protein 4 (A6NGS2).

At a glance

• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_001130514

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34497
Approved symbol	ERICH4
Name	glutamate rich 4
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	LOC100170765
Ensembl gene	ENSG00000204978
Ensembl biotype	protein_coding
Entrez	100170765

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378187

RefSeq mRNA: 1 — MANE Select: NM_001130514 NM_001130514

CCDS: CCDS46085

Canonical transcript exons

ENST00000378187 — 2 exons

Exon	Start	End
ENSE00001476590	41444006	41444765
ENSE00001476591	41443156	41443343

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.73.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2500 / max 165.1896, expressed in 23 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176030	0.2073	19
176029	0.0428	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	97.73	gold quality
ileal mucosa	UBERON:0000331	92.91	gold quality
duodenum	UBERON:0002114	92.55	gold quality
kidney epithelium	UBERON:0004819	85.70	gold quality
small intestine	UBERON:0002108	77.15	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.28	gold quality
jejunum	UBERON:0002115	74.81	gold quality
adult mammalian kidney	UBERON:0000082	73.88	gold quality
apex of heart	UBERON:0002098	73.08	gold quality
kidney	UBERON:0002113	72.04	gold quality
heart left ventricle	UBERON:0002084	66.93	gold quality
adult organism	UBERON:0007023	66.70	gold quality
cardiac ventricle	UBERON:0002082	66.10	gold quality
right lung	UBERON:0002167	65.26	gold quality
cortex of kidney	UBERON:0001225	63.32	gold quality
upper lobe of left lung	UBERON:0008952	62.03	gold quality
upper lobe of lung	UBERON:0008948	60.95	gold quality
metanephros	UBERON:0000081	60.91	gold quality
secondary oocyte	CL:0000655	60.62	gold quality
oocyte	CL:0000023	60.57	gold quality
heart	UBERON:0000948	60.56	gold quality
metanephros cortex	UBERON:0010533	60.22	gold quality
right atrium auricular region	UBERON:0006631	59.79	gold quality
tibialis anterior	UBERON:0001385	59.42	silver quality
renal medulla	UBERON:0000362	59.23	gold quality
cardiac atrium	UBERON:0002081	59.20	gold quality
body of uterus	UBERON:0009853	59.09	gold quality
omental fat pad	UBERON:0010414	58.61	gold quality
peritoneum	UBERON:0002358	58.56	gold quality
adipose tissue of abdominal region	UBERON:0007808	57.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting ERICH4, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-4669	97.94	62.71	224
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-3936	97.64	64.47	732
HSA-MIR-4287	97.55	67.24	1247
HSA-MIR-4685-3P	97.55	67.35	1255
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-3654	96.43	66.55	646

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Erich4	ENSMUSG00000074261
rattus_norvegicus	Erich4	ENSRNOG00000037798

Protein

Protein identifiers

Glutamate-rich protein 4 — A6NGS2 (reviewed: A6NGS2)

All UniProt accessions (1): A6NGS2

RefSeq proteins (1): NP_001123986* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029202	DUF4530	Family

Pfam: PF15039

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGS2-F1	78.60	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): SUMI_HNF4A_TARGETS, MIR4795_3P, MIR126_5P, MIR429, MIR200B_3P, MIR200C_3P, MIR1226_3P, MIR3650, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_CEREBELLUM_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_INTESTINE_INTESTINAL_EPITHELIAL_CELLS, ZHANG_FH_DEFICIENT_RCC_TUMOR_VS_NORMAL_DN, chr19q13

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH4	DCANP1	Q8TF63	511
ERICH4	TTC29	Q8NA56	445
ERICH4	TMEM184A	Q6ZMB5	443
ERICH4	PGBD5	Q8N414	430
ERICH4	TMPRSS9	Q7Z410	419
ERICH4	PDILT	Q8N807	393
ERICH4	SLC38A10	Q9HBR0	380
ERICH4	TBC1D16	Q8TBP0	376
ERICH4	CCDC3	Q9BQI4	376
ERICH4	MRPS18B	Q9Y676	370
ERICH4	SHISA9	B4DS77	368
ERICH4	TRIM50	Q86XT4	353
ERICH4	SPINK4	O60575	349
ERICH4	MYH15	Q9Y2K3	348
ERICH4	ETNPPL	Q8TBG4	348
ERICH4	PGA4	P00790	348

IntAct

7 interactions, top by confidence:

A	B	Type	Score
ERICH4	PPP2R5A	psi-mi:“MI:0915”(physical association)	0.560
ERICH4	SUOX	psi-mi:“MI:0915”(physical association)	0.560
PPP2R5A	ERICH4	psi-mi:“MI:0915”(physical association)	0.000
SUOX	ERICH4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): ERICH4 (Two-hybrid), ERICH4 (Two-hybrid)

ESM2 similar proteins: A1L168, A1L3T7, A6NGS2, A6QQF7, D4A8G3, O15049, P0C7N2, P0C7N4, P17257, P58660, Q08AY9, Q0V7M8, Q0VDN7, Q14BJ1, Q2NL23, Q3KP66, Q3LUD3, Q3UNU4, Q4LEZ3, Q566R4, Q571B6, Q5BJW5, Q5ND29, Q5RFZ7, Q5XIS1, Q6NSJ2, Q6P1G6, Q6Q0N2, Q7TN12, Q7TSI1, Q811W1, Q8BL43, Q8C7U1, Q8IV03, Q8K1S6, Q8K2P1, Q8N137, Q8N5H3, Q8TE77, Q8WWL2

Diamond homologs: A6NGS2, P0C7N2, Q3UNU4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

161 predictions. Top by Δscore:

Variant	Effect	Δscore
19:41443334:G:GT	donor_gain	0.9800
19:41444004:AG:A	acceptor_gain	0.9800
19:41444005:GG:G	acceptor_gain	0.9800
19:41443245:G:T	donor_gain	0.9700
19:41443335:G:T	donor_gain	0.9700
19:41444001:G:A	acceptor_gain	0.9700
19:41444004:AGG:A	acceptor_gain	0.9700
19:41444005:GGG:G	acceptor_gain	0.9700
19:41443340:GCTG:G	donor_gain	0.9600
19:41444000:T:TA	acceptor_gain	0.9600
19:41444000:TGGCA:T	acceptor_loss	0.9600
19:41444001:GGCA:G	acceptor_loss	0.9600
19:41444002:GCAG:G	acceptor_loss	0.9600
19:41444003:CA:C	acceptor_loss	0.9600
19:41444004:A:C	acceptor_loss	0.9600
19:41444005:G:T	acceptor_loss	0.9600
19:41444005:GGGGA:G	acceptor_gain	0.9600
19:41443303:G:GT	donor_gain	0.9500
19:41444004:A:AG	acceptor_gain	0.9500
19:41444004:AGGG:A	acceptor_gain	0.9500
19:41444005:G:GG	acceptor_gain	0.9500
19:41444005:GGGG:G	acceptor_gain	0.9500
19:41443343:GGTG:G	donor_loss	0.9400
19:41443345:T:A	donor_loss	0.9400
19:41443346:GAGT:G	donor_loss	0.9400
19:41443344:G:GG	donor_gain	0.9100
19:41443272:C:A	donor_gain	0.8900
19:41443347:AGTG:A	donor_loss	0.8800
19:41443998:ACT:A	acceptor_gain	0.8700
19:41443998:ACTG:A	acceptor_gain	0.8600

AlphaMissense

836 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:41443179:T:A	W4R	0.893
19:41443179:T:C	W4R	0.893
19:41444207:T:C	F126L	0.892
19:41444209:T:A	F126L	0.892
19:41444209:T:G	F126L	0.892
19:41443181:G:C	W4C	0.887
19:41443181:G:T	W4C	0.887
19:41444034:T:C	L68P	0.879
19:41444046:T:C	L72P	0.856
19:41444025:A:T	D65V	0.855
19:41444024:G:C	D65H	0.849
19:41444013:T:C	L61P	0.831
19:41444055:T:C	L75P	0.822
19:41444026:T:A	D65E	0.817
19:41444026:T:G	D65E	0.817
19:41444048:T:C	C73R	0.814
19:41444050:C:G	C73W	0.811
19:41443189:T:C	L7P	0.810
19:41444061:T:C	L77P	0.791
19:41444046:T:A	L72Q	0.784
19:41443197:G:C	A10P	0.777
19:41444025:A:C	D65A	0.771
19:41443180:G:C	W4S	0.770
19:41444024:G:T	D65Y	0.767
19:41444016:G:C	R62P	0.760
19:41444015:C:A	R62S	0.757
19:41444034:T:A	L68Q	0.754
19:41444049:G:A	C73Y	0.730
19:41444076:T:C	L82P	0.725
19:41444048:T:A	C73S	0.724

dbSNP variants (sampled 300 via entrez): RS1000057048 (19:41443154 C>T), RS1001058310 (19:41444151 A>G), RS1001221550 (19:41441427 C>G), RS1001405850 (19:41444571 G>A,T), RS1001569491 (19:41441599 G>T), RS1003965268 (19:41442290 G>A), RS1004459658 (19:41442272 A>C), RS1007481675 (19:41445051 G>A), RS1007805320 (19:41445190 G>T), RS1008012939 (19:41442064 T>A), RS1008774559 (19:41441967 C>T), RS1011036885 (19:41442609 A>G), RS1015990541 (19:41442280 A>G), RS1016252971 (19:41445053 A>G), RS1016584548 (19:41443759 T>C)

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

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
methyleugenol	decreases expression	1
propionaldehyde	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
Aldehydes	decreases expression	1
Silicon Dioxide	decreases expression	1
Valproic Acid	affects expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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