ERICH6

Summary

ERICH6 (glutamate rich 6, HGNC:28602) is a protein-coding gene on chromosome 3q25.1, encoding Glutamate-rich protein 6 (Q7L0X2).

Located in nucleus.

Source: NCBI Gene 131831 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 114 total
• MANE Select transcript: NM_152394

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28602
Approved symbol	ERICH6
Name	glutamate rich 6
Location	3q25.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC39662, ERICH6A
Ensembl gene	ENSG00000163645
Ensembl biotype	protein_coding
Entrez	131831

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000295910, ENST00000474463, ENST00000491361, ENST00000491716, ENST00000498386

RefSeq mRNA: 2 — MANE Select: NM_152394 NM_001308234, NM_152394

CCDS: CCDS3151, CCDS77840

Canonical transcript exons

ENST00000295910 — 14 exons

Exon	Start	End
ENSE00001076893	150682218	150682316
ENSE00001076901	150685966	150686021
ENSE00001076903	150685742	150685858
ENSE00001209222	150698791	150698882
ENSE00001232598	150686298	150686354
ENSE00001350978	150703496	150703920
ENSE00003481660	150678409	150678554
ENSE00003482328	150669296	150669451
ENSE00003540732	150680773	150680930
ENSE00003549578	150659885	150660155
ENSE00003552721	150680468	150680538
ENSE00003576010	150666787	150667015
ENSE00003603166	150702121	150702178
ENSE00003674328	150673956	150674041

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 88.84.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5246 / max 72.6247, expressed in 237 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45108	0.4463	222
45110	0.0495	8
45109	0.0288	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	88.84	gold quality
left testis	UBERON:0004533	88.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.10	gold quality
testis	UBERON:0000473	86.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	silver quality
sperm	CL:0000019	79.46	silver quality
tibialis anterior	UBERON:0001385	73.78	silver quality
ileal mucosa	UBERON:0000331	72.86	silver quality
adult organism	UBERON:0007023	69.45	gold quality
sural nerve	UBERON:0015488	67.89	gold quality
kidney epithelium	UBERON:0004819	66.03	gold quality
deltoid	UBERON:0001476	62.06	gold quality
pancreatic ductal cell	CL:0002079	60.91	silver quality
stromal cell of endometrium	CL:0002255	60.08	gold quality
ventricular zone	UBERON:0003053	58.94	gold quality
vena cava	UBERON:0004087	58.47	gold quality
epithelium of nasopharynx	UBERON:0001951	58.12	gold quality
right adrenal gland cortex	UBERON:0035827	55.90	gold quality
calcaneal tendon	UBERON:0003701	55.79	gold quality
quadriceps femoris	UBERON:0001377	55.76	gold quality
granulocyte	CL:0000094	55.10	gold quality
skin of hip	UBERON:0001554	54.82	silver quality
epithelial cell of pancreas	CL:0000083	54.76	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	54.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
subthalamic nucleus	UBERON:0001906	53.86	gold quality
vastus lateralis	UBERON:0001379	53.76	gold quality
right uterine tube	UBERON:0001302	53.75	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.26
E-GEOD-100618	no	158.14

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Erich6	ENSMUSG00000070471
rattus_norvegicus	Erich6	ENSRNOG00000013662

Paralogs (2): C3orf20 (ENSG00000131379), ERICH6B (ENSG00000165837)

Protein

Protein identifiers

Glutamate-rich protein 6 — Q7L0X2 (reviewed: Q7L0X2)

Alternative names: Protein FAM194A

All UniProt accessions (3): C9J7L7, C9JVV3, Q7L0X2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Similarity. Belongs to the ERICH6 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7L0X2-1	1	yes
Q7L0X2-2	2
Q7L0X2-3	3

RefSeq proteins (2): NP_001295163, NP_689607* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029281	FAM194_C	Domain

Pfam: PF14977

UniProt features (10 total): sequence variant 3, region of interest 2, compositionally biased region 2, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L0X2-F1	63.73	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 37 (showing top): chr3q25, MIKKELSEN_IPS_ICP_WITH_H3K4ME3_AND_H327ME3, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, FOSTER_KDM1A_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, BANP_TARGET_GENES, DYRK1A_TARGET_GENES, FOXJ2_TARGET_GENES, HMGA1_TARGET_GENES, IRF5_TARGET_GENES, SMARCA1_TARGET_GENES, THRAP3_TARGET_GENES, ZFP91_TARGET_GENES, ZNF184_TARGET_GENES

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

636 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH6	ERICH1	Q86X53	506
ERICH6	TTC32	Q5I0X7	464
ERICH6	EFCAB5	A4FU69	413
ERICH6	RIPOR3	Q96MK2	404
ERICH6	AADACL3	Q5VUY0	403
ERICH6	MCRIP1	C9JLW8	396
ERICH6	CLUL1	Q15846	394
ERICH6	PBDC1	Q9BVG4	392
ERICH6	LRCH2	Q5VUJ6	391
ERICH6	LRRC57	Q8N9N7	388
ERICH6	CCDC116	Q8IYX3	383
ERICH6	TMEM72	A0PK05	374
ERICH6	TRAPPC13	A5PLN9	366
ERICH6	TSPYL4	Q9UJ04	364
ERICH6	MRPS25	P82663	363

IntAct

2 interactions, top by confidence:

A	B	Type	Score
HSPB1	ERICH6	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (5): ERICH6 (Two-hybrid), GLCCI1 (Affinity Capture-MS), ERICH6 (Reconstituted Complex), CLRN3 (Cross-Linking-MS (XL-MS)), ERICH6 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0JP43, A2AHC3, A2RRS8, A2VCV0, A4FU69, A4IG55, A5WUN7, A8T6P4, D3Z6S9, D3Z8E6, D4AEC2, E7F7X0, F7EC58, G3UZ78, Q06190, Q08AD1, Q2MJV9, Q3KQW7, Q3UH68, Q3UMB5, Q3V036, Q5SUV2, Q5T5Y3, Q5ZM60, Q640L3, Q640U0, Q66H73, Q69CM7, Q6AYC8, Q6IRN6, Q6PG04, Q6Q759, Q76LL6, Q76N89, Q7L0X2, Q80VH0, Q8C1B1, Q8C627, Q8CCG4, Q8CDN1

Diamond homologs: D3Z6S9, Q5XI56, Q7L0X2, Q8CDN1, Q5W0A0, Q8ND61

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	97
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2921 predictions. Top by Δscore:

Variant	Effect	Δscore
3:150666896:A:T	acceptor_gain	1.0000
3:150682457:T:TA	donor_gain	1.0000
3:150685737:GTCAC:G	donor_loss	1.0000
3:150685738:TCAC:T	donor_loss	1.0000
3:150685739:CACC:C	donor_loss	1.0000
3:150685740:ACCT:A	donor_loss	1.0000
3:150685741:C:A	donor_loss	1.0000
3:150685855:TAAA:T	acceptor_gain	1.0000
3:150685859:C:CC	acceptor_gain	1.0000
3:150685865:T:C	acceptor_gain	1.0000
3:150660918:CA:C	acceptor_gain	0.9900
3:150666895:C:CT	acceptor_gain	0.9900
3:150678403:CATTA:C	donor_loss	0.9900
3:150678404:ATTAC:A	donor_loss	0.9900
3:150678405:TTAC:T	donor_loss	0.9900
3:150678406:TACCT:T	donor_loss	0.9900
3:150678407:A:T	donor_loss	0.9900
3:150678408:C:G	donor_loss	0.9900
3:150678555:C:CC	acceptor_gain	0.9900
3:150679425:T:TA	donor_gain	0.9900
3:150679437:AGCTC:A	donor_gain	0.9900
3:150679438:G:C	donor_gain	0.9900
3:150682216:A:AC	donor_gain	0.9900
3:150682217:C:CC	donor_gain	0.9900
3:150682217:CATG:C	donor_gain	0.9900
3:150682458:C:A	donor_gain	0.9900
3:150685854:TTAAA:T	acceptor_gain	0.9900
3:150685855:TAAAC:T	acceptor_gain	0.9900
3:150685856:AAA:A	acceptor_gain	0.9900
3:150685856:AAACT:A	acceptor_gain	0.9900

AlphaMissense

4399 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:150666954:A:G	W521R	0.998
3:150666954:A:T	W521R	0.998
3:150669431:G:T	A455D	0.996
3:150669351:C:G	A482P	0.995
3:150666816:C:G	A567P	0.994
3:150666948:A:G	W523R	0.994
3:150666948:A:T	W523R	0.994
3:150673989:A:G	L437P	0.994
3:150669386:A:T	V470D	0.993
3:150673959:A:T	I447K	0.993
3:150666869:C:G	R549P	0.992
3:150669350:G:T	A482E	0.992
3:150669432:C:G	A455P	0.991
3:150682289:A:G	C271R	0.990
3:150666952:C:A	W521C	0.989
3:150666952:C:G	W521C	0.989
3:150669321:A:G	C492R	0.989
3:150673959:A:C	I447R	0.989
3:150673991:A:C	F436L	0.989
3:150673991:A:T	F436L	0.989
3:150673993:A:G	F436L	0.989
3:150680902:A:G	L304P	0.989
3:150666992:C:T	G508D	0.988
3:150666836:A:G	F560S	0.987
3:150673992:A:G	F436S	0.987
3:150666835:A:C	F560L	0.986
3:150666835:A:T	F560L	0.986
3:150666837:A:G	F560L	0.986
3:150669450:A:C	Y449D	0.985
3:150659971:A:G	L638P	0.983

dbSNP variants (sampled 300 via entrez): RS1000048698 (3:150668336 A>G), RS1000090175 (3:150673368 T>C), RS1000337630 (3:150685037 A>G), RS1000337636 (3:150660351 G>A), RS1000356500 (3:150705206 A>C,G), RS1000438168 (3:150666303 C>T), RS1000450448 (3:150684784 C>G,T), RS1000549995 (3:150671647 G>T), RS1000589781 (3:150672745 CCAGA>C), RS1000791597 (3:150683529 C>T), RS1000793255 (3:150665535 C>A,T), RS1000843346 (3:150690026 T>A), RS1000859418 (3:150684690 T>C), RS1000925492 (3:150689713 C>T), RS1000962419 (3:150677586 C>A,T)

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

1 associations (top):

Study	Trait	p-value
GCST004863_128	Mosquito bite size	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008378	mosquito bite reaction size measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Lead	affects methylation	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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