ERICH5

Summary

ERICH5 (glutamate rich 5, HGNC:26823) is a protein-coding gene on chromosome 8q22.2, encoding Glutamate-rich protein 5 (Q6P6B1).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 54 total — 1 likely-pathogenic
• MANE Select transcript: NM_173549

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26823
Approved symbol	ERICH5
Name	glutamate rich 5
Location	8q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39553
Ensembl gene	ENSG00000177459
Ensembl biotype	protein_coding
OMIM	620895
Entrez	203111

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000318528, ENST00000545282, ENST00000890869, ENST00000890870, ENST00000927909, ENST00000963977

RefSeq mRNA: 2 — MANE Select: NM_173549 NM_001170806, NM_173549

CCDS: CCDS34929, CCDS55266

Canonical transcript exons

ENST00000318528 — 3 exons

Exon	Start	End
ENSE00001278192	98089076	98090029
ENSE00001278214	98064568	98064727
ENSE00003850107	98093221	98093609

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 96.65.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2446 / max 59.6913, expressed in 426 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89929	0.4349	207
89930	0.2420	127
89928	0.2033	125
205268	0.1280	65
89926	0.1042	45
205267	0.0681	22
89927	0.0641	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	96.65	gold quality
bronchial epithelial cell	CL:0002328	92.57	gold quality
bronchus	UBERON:0002185	91.45	gold quality
islet of Langerhans	UBERON:0000006	90.76	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.19	gold quality
body of pancreas	UBERON:0001150	89.61	gold quality
pancreas	UBERON:0001264	89.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.90	gold quality
right uterine tube	UBERON:0001302	84.32	gold quality
gall bladder	UBERON:0002110	83.65	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.49	gold quality
oocyte	CL:0000023	82.55	gold quality
nasal cavity epithelium	UBERON:0005384	81.53	gold quality
nasal cavity mucosa	UBERON:0001826	80.91	gold quality
endothelial cell	CL:0000115	79.84	gold quality
right lobe of liver	UBERON:0001114	76.56	gold quality
oviduct epithelium	UBERON:0004804	76.32	gold quality
secondary oocyte	CL:0000655	76.29	gold quality
epithelium of nasopharynx	UBERON:0001951	75.37	gold quality
apex of heart	UBERON:0002098	75.35	gold quality
liver	UBERON:0002107	75.14	gold quality
germinal epithelium of ovary	UBERON:0001304	74.97	gold quality
heart left ventricle	UBERON:0002084	73.12	gold quality
cardiac ventricle	UBERON:0002082	72.40	gold quality
adult mammalian kidney	UBERON:0000082	72.12	gold quality
fallopian tube	UBERON:0003889	71.47	gold quality
rectum	UBERON:0001052	71.31	gold quality
duodenum	UBERON:0002114	70.31	gold quality
mucosa of transverse colon	UBERON:0004991	69.59	gold quality
nucleus accumbens	UBERON:0001882	69.23	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6108	no	251.16
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting ERICH5, 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-1250-3P	99.96	70.04	4038
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-4999-3P	99.11	65.55	424
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-218-1-3P	98.63	67.97	832
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-483-3P	97.77	64.95	731
HSA-MIR-562	97.66	65.63	698

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Erich5	ENSMUSG00000044726
rattus_norvegicus	Erich5	ENSRNOG00000005956

Protein

Protein identifiers

Glutamate-rich protein 5 — Q6P6B1 (reviewed: Q6P6B1)

All UniProt accessions (1): Q6P6B1

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P6B1-1	1	yes
Q6P6B1-2	2

RefSeq proteins (2): NP_001164277, NP_775820* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027856	Glu-rich_5	Family

UniProt features (14 total): compositionally biased region 4, region of interest 3, sequence variant 3, chain 1, sequence conflict 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P6B1-F1	48.96	0.00

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): 169

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells

MSigDB gene sets: 37 (showing top): BENPORATH_ES_WITH_H3K27ME3, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, DBP_Q6, GEORGES_TARGETS_OF_MIR192_AND_MIR215, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MEF_ICP_WITH_H3K27ME3, MIKKELSEN_IPS_ICP_WITH_H3K4ME3_AND_H327ME3, GSE14386_UNTREATED_VS_IFNA_TREATED_ACT_PBMC_MS_PATIENT_UP, MIR153_5P, MIR4279, MIR320A_5P, MIR562, MIR4999_3P

GO Biological Process (0):

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

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Cell Lineages of the Exocrine Pancreas	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH5	LRRC45	Q96CN5	543
ERICH5	WDR37	Q9Y2I8	520
ERICH5	ARMC8	Q8IUR7	460
ERICH5	FAM193B	Q96PV7	449
ERICH5	MANBAL	Q9NQG1	428
ERICH5	LRRC57	Q8N9N7	427
ERICH5	PHACTR1	Q9C0D0	399
ERICH5	CIMAP1D	Q3SX64	398
ERICH5	PHETA2	Q6ICB4	395
ERICH5	LYPD2	Q6UXB3	375
ERICH5	GRTP1	Q5TC63	355
ERICH5	LRATD1	Q96KN4	349
ERICH5	CERCAM	Q5T4B2	348
ERICH5	BSPRY	Q5W0U4	338
ERICH5	CBLN3	Q6UW01	327

IntAct

42 interactions, top by confidence:

A	B	Type	Score
KIFAP3	KIF3C	psi-mi:“MI:0914”(association)	0.640
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
KEAP1	ERICH5	psi-mi:“MI:0915”(physical association)	0.560
FYTTD1	UBA6	psi-mi:“MI:0914”(association)	0.530
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
CD69	PALM3	psi-mi:“MI:0914”(association)	0.530
GJB7	PALM3	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
ERICH5	CFTR	psi-mi:“MI:0915”(physical association)	0.510
CFTR	ERICH5	psi-mi:“MI:0915”(physical association)	0.510
ERICH5	RRBP1	psi-mi:“MI:0915”(physical association)	0.400
MED21	MED19	psi-mi:“MI:0914”(association)	0.350
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.350
RPS27	POTEF	psi-mi:“MI:0914”(association)	0.350
DUSP22	POTEF	psi-mi:“MI:0914”(association)	0.350
IDO2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
PACC1	DEGS1	psi-mi:“MI:0914”(association)	0.350
DUSP23	DNM1L	psi-mi:“MI:0914”(association)	0.350
FADS3	DHX16	psi-mi:“MI:0914”(association)	0.350
FMO5	OGA	psi-mi:“MI:0914”(association)	0.350
PCDHGC3	HRAS	psi-mi:“MI:0914”(association)	0.350
VDAC3	HRAS	psi-mi:“MI:0914”(association)	0.350
ISG20	SRC	psi-mi:“MI:0914”(association)	0.350
CERS2	VPS37C	psi-mi:“MI:0914”(association)	0.350
FADS3	PEX7	psi-mi:“MI:0914”(association)	0.350
ERICH5	NMT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (47): ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Proximity Label-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS), ERICH5 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A4FU49, A6NJ88, A6QP92, E9PAV3, E9Q0C6, F1QU13, O94854, P18583, P24587, P27546, P27816, P36225, P43597, P70670, Q08DY0, Q2T9N0, Q32L62, Q4R729, Q4V7A4, Q5H9T9, Q5M7W5, Q5SWP3, Q5XHX6, Q5XPK0, Q659K0, Q68DN1, Q68FX6, Q69ZZ9, Q6AZ54, Q6P6B1, Q6ZRG5, Q70KF4, Q710D7, Q810T2, Q8K4E0, Q8N3K9, Q8TCU4, Q8WWL7

Diamond homologs: Q08DY0, Q6P6B1, Q8K0S2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	49
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1184814	GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4	Likely pathogenic

SpliceAI

597 predictions. Top by Δscore:

Variant	Effect	Δscore
8:98064725:GCG:G	donor_gain	1.0000
8:98089060:A:AG	acceptor_gain	1.0000
8:98089060:AAAT:A	acceptor_gain	1.0000
8:98089063:T:TA	acceptor_gain	1.0000
8:98090025:TGAAG:T	donor_loss	1.0000
8:98090026:GAAGG:G	donor_loss	1.0000
8:98090027:AAGGT:A	donor_loss	1.0000
8:98090028:AGGTA:A	donor_loss	1.0000
8:98090030:G:GC	donor_loss	1.0000
8:98090031:T:A	donor_loss	1.0000
8:98066215:T:TG	donor_gain	0.9900
8:98089061:A:AG	acceptor_gain	0.9900
8:98089061:AAT:A	acceptor_gain	0.9900
8:98089062:A:AG	acceptor_gain	0.9900
8:98089062:AT:A	acceptor_gain	0.9900
8:98089063:T:G	acceptor_gain	0.9900
8:98089066:A:AG	acceptor_gain	0.9900
8:98089067:T:G	acceptor_gain	0.9900
8:98089068:A:AG	acceptor_gain	0.9900
8:98089069:A:G	acceptor_gain	0.9900
8:98089075:G:GA	acceptor_gain	0.9900
8:98089075:GT:G	acceptor_gain	0.9900
8:98089075:GTA:G	acceptor_gain	0.9900
8:98090037:T:G	donor_gain	0.9900
8:98093218:CAGG:C	acceptor_loss	0.9900
8:98093219:A:AT	acceptor_loss	0.9900
8:98064724:AGCGG:A	donor_loss	0.9800
8:98064728:G:GG	donor_gain	0.9800
8:98064728:G:T	donor_loss	0.9800
8:98064729:T:TC	donor_loss	0.9800

AlphaMissense

2438 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:98064682:A:C	S5R	0.948
8:98064684:C:A	S5R	0.948
8:98064684:C:G	S5R	0.948
8:98064685:A:C	S6R	0.928
8:98064687:C:A	S6R	0.928
8:98064687:C:G	S6R	0.928
8:98064673:G:C	G2R	0.915
8:98064676:T:C	C3R	0.864
8:98064683:G:A	S5N	0.849
8:98064683:G:T	S5I	0.808
8:98064686:G:A	S6N	0.802
8:98064678:C:G	C3W	0.797
8:98064674:G:A	G2D	0.788
8:98064673:G:T	G2C	0.773
8:98064674:G:T	G2V	0.755
8:98064686:G:T	S6I	0.742
8:98064699:G:C	K10N	0.729
8:98064699:G:T	K10N	0.729
8:98089123:T:C	F36L	0.722
8:98089125:T:A	F36L	0.722
8:98089125:T:G	F36L	0.722
8:98064676:T:A	C3S	0.712
8:98064677:G:C	C3S	0.712
8:98064718:T:C	F17L	0.700
8:98064720:C:A	F17L	0.700
8:98064720:C:G	F17L	0.700
8:98064680:C:T	S4F	0.673
8:98064689:C:A	A7D	0.667
8:98089239:T:A	N74K	0.661
8:98089239:T:G	N74K	0.661

dbSNP variants (sampled 300 via entrez): RS1000145755 (8:98078957 T>C), RS1000213073 (8:98079176 T>C), RS1000243952 (8:98065428 C>T), RS1000360422 (8:98065131 C>A), RS1000393561 (8:98072492 G>A,C), RS1000545211 (8:98064296 A>G), RS1000545690 (8:98080336 T>A), RS1000576247 (8:98063862 C>T), RS1000627054 (8:98073271 A>G), RS1000671591 (8:98085928 T>C), RS1000690970 (8:98063493 G>A), RS1000701495 (8:98071659 G>A), RS1000754820 (8:98084624 A>C), RS1000760546 (8:98070554 G>A), RS1000789557 (8:98078306 A>G)

Disease associations

OMIM: gene MIM:620895 | disease phenotypes: MIM:216550

GenCC curated gene-disease

Mondo (1): Cohen syndrome (MONDO:0008999)

Orphanet (1): Cohen syndrome (Orphanet:193)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008491_2	Voxel-wise structural brain imaging measurements in Alzheimer’s disease	1.000000e-06
GCST009203_6	Cerebellum cortex volume	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536438	Cohen syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	4
mercuric bromide	increases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
methylmercuric chloride	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Methotrexate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases expression	1
Antirheumatic Agents	decreases expression	1
Particulate Matter	increases expression, decreases reaction	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01907555	Not specified	COMPLETED	Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes