SHF

protein-coding

Src homology 2 domain containing F, the group of SH2 domain containing

Gene summary

Predicted to enable phosphotyrosine residue binding activity. Predicted to be involved in apoptotic process and signal transduction. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001394037.1

Inheritance

—

ClinVar variants

U:45

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr15:45,167,214-45,201,175

External References & Databases

Ensembl (ENSG00000138606)

Transcript & Mutation Effects

hg38 • Region Span ~34.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SHF variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 43

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394037.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			44 clinvar			44
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	0	0	45

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394037.1	RefSeq	NP_001380966.1	7	MANE Select
ENST00000690270.1	Ensembl	ENSP00000508579.1	7	MANE Select
NM_001301168.2	RefSeq	NP_001288097.2	6	Standard
NM_001301169.2	RefSeq	NP_001288098.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PDGFR-alpha signaling pathway

Biological Process

apoptotic process

Molecular Function

phosphotyrosine residue binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000290894
Coding exons: 7
Length: 33962
Individuals with no LoFs: 125576
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125593
p: 0.0000677

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.866	211	250	0.846	0.0000137	2707
Missense (PolyPhen)		55	79.821	0.68904		868
Synonymous	0.803	91	101	0.898	0.00000553	861
Loss of Function	3.00	5	19.2	0.261	0.00000107	216

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000068	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Adapter protein which may play a role in the regulation of apoptosis in response to PDGF. {ECO:0000269|PubMed:11095946}.;

Recessive Scores

pRec: 0.144

Intolerance Scores

LoFtool: 0.731
RVIS EVS: 0.09
RVIS percentile EVS: 60.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.669

Gene Damage Prediction

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