SHC4

Chr 15

SHC adaptor protein 4

Also known as: RaLP, SHCD

NCBI Gene: 399694 ENSG00000185634 UniProt: Q6S5L8 OMIM: 617372

Predicted to enable receptor tyrosine kinase binding activity. Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within several processes, including apoptotic process; positive regulation of cell population proliferation; and stem cell differentiation. Predicted to be located in postsynaptic membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SHC4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 90

869 rare PASS variants

Rare truncating (LoF)

1 in 1,400

109 rare PASS variants

Rare synonymous (reference)

1 in 110

357 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SHC4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 99	1 in 2,100
South Asian	~43k	1 in 67	1 in 820
Remaining (unassigned)	~30k	1 in 65	1 in 490
European (Finnish)	~27k	1 in 330	≈ 1 in 13,000
Admixed American	~22k	1 in 79	1 in 950
African / African American	~21k	1 in 74	1 in 1,100
East Asian	~20k	1 in 65	1 in 700
Ashkenazi Jewish	~13k	1 in 340	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 73	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 11 of 12 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 12.? see exons ↓