ERBIN

erbb2 interacting protein, the group of PDZ domain containing

Basic information

Region (hg38): 5:65883127-66082546

Previous symbols: [ "ERBB2IP" ]

Links

ENSG00000112851 ∙ NCBI:55914 ∙ OMIM:606944 ∙ HGNC:15842 ∙ Uniprot:Q96RT1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERBIN gene.

• not provided (532 variants)
• ERBIN-related condition (15 variants)
• Inborn genetic diseases (15 variants)
• not specified (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERBIN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	99	14	116
missense			296	10	11	317
nonsense			3			3
start loss						0
frameshift			8			8
inframe indel			4			4
splice donor/acceptor (+/-2bp)			1			1
splice region			11	15	3	29
non coding			1	52	16	69
Total	0	0	316	161	41

Variants in ERBIN

This is a list of pathogenic ClinVar variants found in the ERBIN region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-65992731-C-CG			Uncertain significance (Nov 21, 2022)
5-65992742-T-C			Likely benign (May 01, 2021)
5-65992743-G-T			Uncertain significance (Sep 01, 2023)
5-65992745-G-A			Likely benign (Apr 25, 2022)
5-65992747-G-A			Uncertain significance (Jun 07, 2021)
5-65992748-G-C			Likely benign (Dec 06, 2023)
5-65992749-T-C			Likely benign (Jun 11, 2023)
5-65992753-T-C			Uncertain significance (Apr 21, 2023)
5-65992755-C-T			Uncertain significance (Jan 26, 2024)
5-65992761-C-T		not specified	Uncertain significance (Aug 02, 2021)
5-65992762-G-A			Uncertain significance (Sep 03, 2023)
5-65992769-A-G			Likely benign (Nov 24, 2023)
5-65992771-G-A			Uncertain significance (Aug 04, 2023)
5-65992772-A-T			Likely benign (Dec 06, 2023)
5-65992773-G-C			Uncertain significance (Nov 24, 2023)
5-65992776-G-A			Uncertain significance (Nov 29, 2023)
5-65992782-G-A			Uncertain significance (Mar 20, 2021)
5-65992784-G-C			Uncertain significance (Dec 06, 2023)
5-65992832-G-A			Likely benign (Feb 19, 2021)
5-65992840-T-C		ERBIN-related disorder	Conflicting classifications of pathogenicity (Aug 22, 2023)
5-65992844-T-C			Likely benign (Mar 19, 2022)
5-65992849-T-C			Uncertain significance (Oct 29, 2023)
5-65992873-A-C			Uncertain significance (May 29, 2022)
5-65992873-A-G			Uncertain significance (Jun 25, 2023)
5-65992878-G-A			Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERBIN	protein_coding	protein_coding	ENST00000506030	24	156075

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00598	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.892	636	703	0.905	0.0000335	9392
Missense in Polyphen		224	286.54	0.78175		3912
Synonymous	0.0452	241	242	0.996	0.0000115	2613
Loss of Function	6.30	12	68.1	0.176	0.00000384	858

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000165	0.000157
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000135	0.000132
Middle Eastern	0.000110	0.000109
South Asian	0.000104	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion (PubMed:16203728). {ECO:0000269|PubMed:10878805, ECO:0000269|PubMed:16203728}.
• Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);Nucleotide-binding Oligomerization Domain (NOD) pathway;NLR Proteins;Pathways Affected in Adenoid Cystic Carcinoma;Signal Transduction;Alpha6Beta4Integrin;TCR;Downregulation of ERBB2 signaling;EGFR1;Signaling by ERBB2;Signaling by Receptor Tyrosine Kinases (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• rvis_EVS: 1.39
• rvis_percentile_EVS: 94.64

Haploinsufficiency Scores

• pHI: 0.446
• hipred: Y
• hipred_score: 0.750
• ghis: 0.499

Essentials

• essential_gene_gene_trap: K

Mouse Genome Informatics

• Gene name: Erbin
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein targeting;cell adhesion;signal transduction;epidermal growth factor receptor signaling pathway;integrin-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;response to muramyl dipeptide;response to lipopolysaccharide;ERBB2 signaling pathway;intermediate filament cytoskeleton organization;basal protein localization;establishment or maintenance of epithelial cell apical/basal polarity;negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway;cellular response to tumor necrosis factor;negative regulation of monocyte chemotactic protein-1 production;regulation of postsynaptic membrane neurotransmitter receptor levels
• Cellular component: basement membrane;nucleus;cytoplasm;plasma membrane;basal plasma membrane;basolateral plasma membrane;nuclear speck;cell junction;hemidesmosome;nuclear membrane;postsynapse;glutamatergic synapse
• Molecular function: signaling receptor binding;ErbB-2 class receptor binding;structural constituent of cytoskeleton;protein binding