ERICH2

Summary

ERICH2 (glutamate rich 2, HGNC:44395) is a protein-coding gene on chromosome 2q31.1, encoding Glutamate-rich protein 2 (A1L162).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 2 total — 1 pathogenic
• MANE Select transcript: NM_001290030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44395
Approved symbol	ERICH2
Name	glutamate rich 2
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204334
Ensembl biotype	protein_coding
OMIM	620858
Entrez	285141

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 9 protein_coding, 6 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000409885, ENST00000426475, ENST00000429172, ENST00000653024, ENST00000654532, ENST00000661942, ENST00000662201, ENST00000662915, ENST00000663589, ENST00000663834, ENST00000664870, ENST00000669009, ENST00000670985, ENST00000671618, ENST00000688829, ENST00000689478, ENST00000697325, ENST00000697326, ENST00000697327, ENST00000697344

RefSeq mRNA: 8 — MANE Select: NM_001290030 NM_001289947, NM_001290030, NM_001290031, NM_001388467, NM_001388468, NM_001388469, NM_001388470, NM_001388471

CCDS: CCDS77486, CCDS92894, CCDS92895

Canonical transcript exons

ENST00000697325 — 10 exons

Exon	Start	End
ENSE00003970273	170792863	170792920
ENSE00003970274	170777377	170777425
ENSE00003970275	170798770	170798977
ENSE00003970276	170779793	170779888
ENSE00003970277	170770378	170771187
ENSE00003970278	170798041	170798112
ENSE00003970279	170782241	170782389
ENSE00003970280	170784646	170784833
ENSE00003970281	170777644	170777680
ENSE00003970282	170777147	170777177

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9468 / max 153.3689, expressed in 1170 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23624	4.6887	1046
23623	1.2914	635
23625	0.3704	188
23622	0.2532	143
23620	0.1375	43
23621	0.1312	61
23627	0.0491	3
23618	0.0107	4
23626	0.0056	3
23619	0.0055	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	98.44	gold quality
testis	UBERON:0000473	98.05	gold quality
right testis	UBERON:0004534	98.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.39	gold quality
endometrium	UBERON:0001295	78.18	gold quality
hypothalamus	UBERON:0001898	78.07	gold quality
right uterine tube	UBERON:0001302	77.80	gold quality
upper lobe of left lung	UBERON:0008952	77.69	gold quality
right lung	UBERON:0002167	76.74	gold quality
amygdala	UBERON:0001876	76.27	gold quality
temporal lobe	UBERON:0001871	76.12	gold quality
lung	UBERON:0002048	76.08	gold quality
substantia nigra	UBERON:0002038	75.27	gold quality
nucleus accumbens	UBERON:0001882	75.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.17	gold quality
islet of Langerhans	UBERON:0000006	74.69	gold quality
body of pancreas	UBERON:0001150	74.26	gold quality
fallopian tube	UBERON:0003889	74.02	gold quality
anterior cingulate cortex	UBERON:0009835	74.02	gold quality
Ammon’s horn	UBERON:0001954	73.40	gold quality
body of stomach	UBERON:0001161	73.33	gold quality
pancreas	UBERON:0001264	73.15	gold quality
caudate nucleus	UBERON:0001873	72.96	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	72.91	gold quality
putamen	UBERON:0001874	72.85	gold quality
endocervix	UBERON:0000458	72.62	gold quality
tibial artery	UBERON:0007610	72.61	gold quality
popliteal artery	UBERON:0002250	72.60	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.38

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	erich2	ENSDARG00000107534
mus_musculus	Erich2	ENSMUSG00000075302
rattus_norvegicus	Erich2	ENSRNOG00000056087
drosophila_melanogaster	CG14853	FBGN0038246

Protein

Protein identifiers

Glutamate-rich protein 2 — A1L162 (reviewed: A1L162)

All UniProt accessions (9): A0A8V8TKZ3, A0A8V8TLA6, A0A8V8TLB4, A0A8V8TLB8, A0A8V8TMA0, A0A8V8TMB5, A0A8V8TMI2, A0A8V8TMJ1, A1L162

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (8): NP_001276876, NP_001276959, NP_001276960, NP_001375396, NP_001375397, NP_001375398, NP_001375399, NP_001375400 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026703	ERICH2	Family

UniProt features (5 total): region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L162-F1	74.23	0.35

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIR153_5P, MIR12136, MIR335_3P, MIR4503, MIR548AV_5P_MIR548K, MIR8054, MIR302F, MIR2053, MIR20A_3P, MIR3168, MIR802, MIR3922_3P, GSE13306_TREG_VS_TCONV_SPLEEN_UP

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

170 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH2	GRAMD2A	Q8IUY3	474
ERICH2	TCF24	Q7RTU0	472
ERICH2	SH3RF3	Q8TEJ3	400
ERICH2	PPP1R42	Q7Z4L9	399
ERICH2	MYO3B	Q8WXR4	377
ERICH2	MALSU1	Q96EH3	372
ERICH2	NXF2B	Q9GZY0	355
ERICH2	CCDC93	Q567U6	349
ERICH2	OPALIN	Q96PE5	336
ERICH2	EFCAB10	A6NFE3	322
ERICH2	RPL22L1	Q6P5R6	300
ERICH2	NDFIP2	Q9NV92	290
ERICH2	TRIQK	Q629K1	289
ERICH2	STPG2	Q8N412	273
ERICH2	ZNF672	Q499Z4	270

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ERICH2	MACROH2A1	psi-mi:“MI:0915”(physical association)	0.720
MACROH2A1	ERICH2	psi-mi:“MI:0915”(physical association)	0.720
SDCBP	ERICH2	psi-mi:“MI:0915”(physical association)	0.560
IWS1	ERICH2	psi-mi:“MI:0915”(physical association)	0.560
ERICH2	SDCBP	psi-mi:“MI:0915”(physical association)	0.560
ERICH2	IWS1	psi-mi:“MI:0915”(physical association)	0.560
ERICH2	PSORS1C2	psi-mi:“MI:0915”(physical association)	0.560
ERICH2		psi-mi:“MI:0915”(physical association)	0.560
ERICH2	HTT	psi-mi:“MI:0915”(physical association)	0.560
MACROH2A1	ERICH2	psi-mi:“MI:0915”(physical association)	0.000
PSORS1C2	ERICH2	psi-mi:“MI:0915”(physical association)	0.000
TNF	ERICH2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): ERICH2 (Two-hybrid), ERICH2 (Two-hybrid), ERICH2 (Two-hybrid), ERICH2 (Biochemical Activity), ERICH2 (Two-hybrid), PSORS1C2 (Two-hybrid)

ESM2 similar proteins: A0JNH9, A1L162, A2VCV0, A6QQ66, B3NLX1, B4P6W7, B8QB46, O75496, O75971, O88513, P32447, P51860, P53911, P85107, Q03563, Q04996, Q2T9W9, Q3UYG8, Q4VA55, Q5H9M0, Q5RD97, Q5W0B1, Q5ZMS4, Q60524, Q641E3, Q65Z40, Q66H73, Q6AWX6, Q6BKL0, Q6DFV7, Q6KAQ7, Q6PG04, Q6TXG9, Q794H2, Q7X9V2, Q7Z5K2, Q8INT5, Q8IW19, Q8IYH5, Q8L7S0

Diamond homologs: A1L162, A6QQ66, Q66H03

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	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	Pathogenic

SpliceAI

491 predictions. Top by Δscore:

Variant	Effect	Δscore
2:170784822:T:G	donor_gain	1.0000
2:170784829:CAGAA:C	donor_gain	1.0000
2:170784830:AGAA:A	donor_gain	1.0000
2:170784831:G:GT	donor_gain	1.0000
2:170784831:GAA:G	donor_gain	1.0000
2:170784832:AA:A	donor_gain	1.0000
2:170784833:AGTAA:A	donor_loss	1.0000
2:170784834:G:GG	donor_gain	1.0000
2:170784835:TAA:T	donor_loss	1.0000
2:170792916:GATGA:G	donor_gain	1.0000
2:170798762:T:TA	acceptor_gain	1.0000
2:170798764:T:TA	acceptor_gain	1.0000
2:170798765:G:A	acceptor_gain	1.0000
2:170798768:A:AG	acceptor_gain	1.0000
2:170798769:G:GG	acceptor_gain	1.0000
2:170798769:GA:G	acceptor_gain	1.0000
2:170798769:GAGA:G	acceptor_gain	1.0000
2:170798769:GAGAA:G	acceptor_gain	1.0000
2:170784242:T:TA	donor_gain	0.9900
2:170784243:A:AA	donor_gain	0.9900
2:170792861:A:AG	acceptor_gain	0.9900
2:170792862:G:GA	acceptor_gain	0.9900
2:170792917:A:G	donor_gain	0.9900
2:170792919:GA:G	donor_gain	0.9900
2:170792921:G:GG	donor_gain	0.9900
2:170798039:A:AG	acceptor_gain	0.9900
2:170798040:G:GA	acceptor_gain	0.9900
2:170798040:GTC:G	acceptor_gain	0.9900
2:170798040:GTCCT:G	acceptor_gain	0.9900
2:170798109:A:G	donor_gain	0.9900

AlphaMissense

2842 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:170784823:T:C	L69S	0.999
2:170792863:T:C	F73L	0.999
2:170792864:T:C	F73S	0.999
2:170792865:T:A	F73L	0.999
2:170792865:T:G	F73L	0.999
2:170792872:G:C	A76P	0.998
2:170798079:T:C	F105L	0.998
2:170798081:T:A	F105L	0.998
2:170798081:T:G	F105L	0.998
2:170792909:T:C	L88S	0.997
2:170798044:T:C	L93P	0.997
2:170792864:T:G	F73C	0.996
2:170792867:T:C	L74P	0.996
2:170792911:T:C	C89R	0.996
2:170792913:T:G	C89W	0.996
2:170798080:T:C	F105S	0.996
2:170784814:C:A	P66Q	0.995
2:170792900:C:A	A85E	0.995
2:170792912:G:A	C89Y	0.995
2:170798071:C:A	A102D	0.995
2:170784811:C:A	A65D	0.993
2:170798041:T:C	I92T	0.993
2:170798080:T:G	F105C	0.992
2:170784828:G:C	A71P	0.991
2:170792867:T:A	L74Q	0.991
2:170798041:T:G	I92S	0.991
2:170792899:G:C	A85P	0.990
2:170798041:T:A	I92N	0.989
2:170798070:G:C	A102P	0.989
2:170798089:T:C	L108P	0.989

dbSNP variants (sampled 300 via entrez): RS1000052677 (2:170784761 C>A), RS1000075362 (2:170772181 C>T), RS1000111671 (2:170791736 ATAAT>A), RS1000122502 (2:170789781 A>G), RS1000333006 (2:170786947 G>A), RS1000349720 (2:170787350 G>A), RS1000476483 (2:170794211 A>G), RS1000828657 (2:170778022 G>A,C), RS1000956675 (2:170788874 C>A), RS1001118004 (2:170786624 C>T), RS1001319628 (2:170793669 G>A), RS1001436855 (2:170771261 A>C,G), RS1001478058 (2:170773897 T>C), RS1001490538 (2:170781131 A>C), RS1001606648 (2:170780887 A>T)

Disease associations

OMIM: gene MIM:620858 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009602_82	Metabolic syndrome	3.000000e-08
GCST010244_159	Triglyceride levels	2.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
titanium dioxide	decreases expression	1
methylparaben	increases expression	1
versicolorin A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment	1
perfluoro-n-nonanoic acid	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Dexamethasone	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Smoke	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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