SMR3B

submaxillary gland androgen regulated protein 3B

Basic information

Region (hg38): 4:70370093-70390244

Previous symbols: [ "PROL3" ]

Links

ENSG00000171201 ∙ NCBI:10879 ∙ OMIM:611593 ∙ HGNC:17326 ∙ Uniprot:P02814 ∙ 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 SMR3B gene.

• not_specified (16 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMR3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006685.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			16			16
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SMR3B	protein_coding	protein_coding	ENST00000304915	2	20152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.387	0.485	121254	0	22	121276	0.0000907

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.880	62	45.3	1.37	0.00000220	482
Missense in Polyphen		0	0.35355	0		7
Synonymous	-0.959	22	17.0	1.30	9.82e-7	188
Loss of Function	0.902	0	0.948	0.00	4.00e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000158	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000154	0.000154
Middle Eastern	0.00	0.00
South Asian	0.0000346	0.0000346
Other	0.000169	0.000169

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.516
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

• pHI: 0.0543
• hipred: N
• hipred_score: 0.112
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0648

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: biological_process;negative regulation of endopeptidase activity;regulation of sensory perception of pain
• Cellular component: extracellular region;extracellular space;extracellular exosome
• Molecular function: molecular_function;endopeptidase inhibitor activity;protein binding