ERICH6B

Summary

ERICH6B (glutamate rich 6B, HGNC:26523) is a protein-coding gene on chromosome 13q14.13, encoding Glutamate-rich protein 6B (Q5W0A0).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_182542

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26523
Approved symbol	ERICH6B
Name	glutamate rich 6B
Location	13q14.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32682
Ensembl gene	ENSG00000165837
Ensembl biotype	protein_coding
Entrez	220081

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 protein_coding, 1 retained_intron

ENST00000298738, ENST00000378977, ENST00000482992, ENST00000504261

RefSeq mRNA: 1 — MANE Select: NM_182542 NM_182542

CCDS: CCDS45045

Canonical transcript exons

ENST00000298738 — 15 exons

Exon	Start	End
ENSE00001097068	45550231	45550316
ENSE00001097077	45561369	45561526
ENSE00001097081	45563727	45563788
ENSE00001152571	45541294	45541680
ENSE00001409190	45607564	45607615
ENSE00001414614	45615685	45615739
ENSE00003460416	45596369	45597063
ENSE00003465741	45590649	45590697
ENSE00003491434	45580603	45580665
ENSE00003533822	45587063	45587232
ENSE00003635444	45579933	45579974
ENSE00003635778	45574842	45574930
ENSE00003646067	45568315	45568451
ENSE00003671061	45549893	45550045
ENSE00003688103	45544760	45544985

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 84.15.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.15	gold quality
cerebellar hemisphere	UBERON:0002245	76.48	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.48	gold quality
cerebellar cortex	UBERON:0002129	76.28	gold quality
cerebellum	UBERON:0002037	76.09	gold quality
right lobe of liver	UBERON:0001114	75.70	gold quality
endometrium	UBERON:0001295	72.40	gold quality
pituitary gland	UBERON:0000007	72.03	gold quality
body of pancreas	UBERON:0001150	71.73	gold quality
granulocyte	CL:0000094	71.64	gold quality
adenohypophysis	UBERON:0002196	70.74	gold quality
lower esophagus mucosa	UBERON:0035834	70.53	gold quality
right ovary	UBERON:0002118	70.42	gold quality
left ovary	UBERON:0002119	70.29	gold quality
endocervix	UBERON:0000458	70.17	gold quality
ectocervix	UBERON:0012249	70.10	gold quality
spleen	UBERON:0002106	69.89	gold quality
body of uterus	UBERON:0009853	69.82	gold quality
right adrenal gland	UBERON:0001233	69.62	gold quality
right adrenal gland cortex	UBERON:0035827	69.22	gold quality
mucosa of transverse colon	UBERON:0004991	69.17	gold quality
minor salivary gland	UBERON:0001830	69.07	gold quality
Brodmann (1909) area 9	UBERON:0013540	68.94	gold quality
transverse colon	UBERON:0001157	68.89	gold quality
testis	UBERON:0000473	68.70	gold quality
left adrenal gland cortex	UBERON:0035825	68.68	gold quality
apex of heart	UBERON:0002098	68.57	gold quality
saliva-secreting gland	UBERON:0001044	68.46	gold quality
left lobe of thyroid gland	UBERON:0001120	68.19	gold quality
left testis	UBERON:0004533	68.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting ERICH6B, 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-3910	99.95	71.13	2227
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-3974	96.56	66.22	928

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Erich6b	ENSMUSG00000022002

Paralogs (2): C3orf20 (ENSG00000131379), ERICH6 (ENSG00000163645)

Protein

Protein identifiers

Glutamate-rich protein 6B — Q5W0A0 (reviewed: Q5W0A0)

Alternative names: Protein FAM194B

All UniProt accessions (1): Q5W0A0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ERICH6 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5W0A0-1	1	yes
Q5W0A0-2	2

RefSeq proteins (1): NP_872348* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029281	FAM194_C	Domain

Pfam: PF14977

UniProt features (18 total): sequence variant 10, compositionally biased region 4, chain 1, region of interest 1, sequence conflict 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5W0A0-F1	51.67	0.09

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): chr13q14, PBXIP1_TARGET_GENES, ZNF146_TARGET_GENES, MIR4727_5P, DESCARTES_MAIN_FETAL_AFP_ALB_POSITIVE_CELLS, NOTCH3_TARGET_GENES, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_UP, GSE14413_UNSTIM_VS_IFNB_STIM_RAW264_CELLS_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

378 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERICH6B	NUTM2F	A1L443	510
ERICH6B	AOPEP	Q8N6M6	476
ERICH6B	KRTAP4-5	Q9BYR2	434
ERICH6B	PRTG	Q2VWP7	413
ERICH6B	CLMN	Q96JQ2	409
ERICH6B	UBXN7	O94888	389
ERICH6B	SLC25A30	Q5SVS4	372
ERICH6B	LURAP1L	Q8IV03	372
ERICH6B	KCNV2	Q8TDN2	360
ERICH6B	HECW1	Q76N89	359
ERICH6B	MTFR1	Q15390	355
ERICH6B	RABGAP1	Q9Y3P9	346
ERICH6B	SLC7A6	Q92536	323
ERICH6B	PCMTD1	Q96MG8	318
ERICH6B	SLC6A2	P23975	315

IntAct

3 interactions, top by confidence:

A	B	Type	Score
H1-0	ERICH6B	psi-mi:“MI:0915”(physical association)	0.400
CD247	LOC402287	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): ERICH6B (Affinity Capture-MS), ERICH6B (Protein-RNA), ERICH6B (Proximity Label-MS), ERICH6B (Affinity Capture-MS), ERICH6B (Cross-Linking-MS (XL-MS)), HIST1H2BL (Cross-Linking-MS (XL-MS)), HIST1H2BD (Cross-Linking-MS (XL-MS)), ERICH6B (Cross-Linking-MS (XL-MS)), ERICH6B (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A6NEF3, A6NEM1, A6NI86, A8MZA4, B4DH59, D3YVF0, F6QRE9, H0YKK7, H0YM25, P0C6Y7, P0C7A2, P0DX00, P0DX01, P0DX02, P14590, P21263, P22793, P24587, P24710, P48997, P48998, Q07283, Q0II65, Q0P6D6, Q13342, Q3BBV2, Q4R9C9, Q5W0A0, Q6AXX0, Q6NSX1, Q6P5H2, Q6P902, Q86T75, Q8CHD8, Q8N2N9, Q8N660, Q8N7Z2

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	83
Likely benign	16
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2710 predictions. Top by Δscore:

Variant	Effect	Δscore
13:45541677:CAAA:C	acceptor_gain	1.0000
13:45541679:AA:A	acceptor_gain	1.0000
13:45541681:C:CC	acceptor_gain	1.0000
13:45541681:CT:C	acceptor_loss	1.0000
13:45544756:TTA:T	donor_loss	1.0000
13:45544757:TA:T	donor_loss	1.0000
13:45544758:A:AT	donor_loss	1.0000
13:45544759:C:G	donor_loss	1.0000
13:45550211:C:A	donor_gain	1.0000
13:45574965:CATG:C	acceptor_gain	1.0000
13:45574968:G:GC	acceptor_gain	1.0000
13:45541676:ACAAA:A	acceptor_gain	0.9900
13:45541677:CAAAC:C	acceptor_gain	0.9900
13:45541678:AAA:A	acceptor_gain	0.9900
13:45541683:G:C	acceptor_gain	0.9900
13:45544986:C:CC	acceptor_gain	0.9900
13:45574840:A:AC	donor_gain	0.9900
13:45574841:C:CC	donor_gain	0.9900
13:45574940:T:TC	acceptor_gain	0.9900
13:45574966:A:AC	acceptor_gain	0.9900
13:45574966:A:C	acceptor_gain	0.9900
13:45574968:G:C	acceptor_gain	0.9900
13:45579971:TGCT:T	acceptor_gain	0.9900
13:45579973:CT:C	acceptor_gain	0.9900
13:45579975:C:CC	acceptor_gain	0.9900
13:45580661:TTTTA:T	acceptor_gain	0.9900
13:45580666:C:CC	acceptor_gain	0.9900
13:45587056:C:A	donor_gain	0.9900
13:45597072:A:T	acceptor_gain	0.9900
13:45541680:ACTGT:A	acceptor_gain	0.9800

AlphaMissense

4598 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:45544927:A:G	W569R	0.987
13:45544927:A:T	W569R	0.987
13:45544921:A:G	W571R	0.980
13:45544921:A:T	W571R	0.980
13:45549948:C:G	A531P	0.979
13:45544808:G:C	F608L	0.975
13:45544808:G:T	F608L	0.975
13:45544810:A:G	F608L	0.975
13:45550237:T:G	Q496P	0.975
13:45544925:C:A	W569C	0.974
13:45544925:C:G	W569C	0.974
13:45549924:C:G	A539P	0.972
13:45550025:G:T	A505D	0.971
13:45544919:C:A	W571C	0.968
13:45544919:C:G	W571C	0.968
13:45550240:C:T	G495D	0.967
13:45550044:A:C	Y499D	0.966
13:45549947:G:T	A531D	0.962
13:45544809:A:G	F608S	0.960
13:45544859:A:C	N591K	0.960
13:45544859:A:T	N591K	0.960
13:45544952:G:C	F560L	0.960
13:45544952:G:T	F560L	0.960
13:45544954:A:G	F560L	0.960
13:45544860:T:A	N591I	0.959
13:45544977:A:G	L552P	0.958
13:45550234:A:T	I497K	0.958
13:45550019:A:G	L507P	0.955
13:45544926:C:G	W569S	0.953
13:45549923:G:T	A539D	0.952

dbSNP variants (sampled 300 via entrez): RS1000005749 (13:45571697 G>A), RS1000091393 (13:45563861 A>C), RS1000144784 (13:45577177 T>C), RS1000146192 (13:45596332 T>C), RS1000160051 (13:45566383 G>A), RS1000172298 (13:45541112 G>A), RS1000199089 (13:45555175 C>G,T), RS1000224123 (13:45592908 T>G), RS1000243447 (13:45566559 C>G), RS1000290518 (13:45580904 C>G,T), RS1000300365 (13:45600167 T>C), RS1000303010 (13:45561241 C>A,T), RS1000354981 (13:45560946 A>C,G), RS1000386799 (13:45574743 C>T), RS1000422297 (13:45606351 G>A,C,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
GCST006087_33	Familial lung adenocarcinoma	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006953	family history of lung cancer

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation	1
perfluorooctanoic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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