SRMS

protein-coding

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites, the group of SH2 domain containing|PTK6 family tyrosine kinases

Gene summary

Enables protein tyrosine kinase activity. Involved in peptidyl-tyrosine autophosphorylation and positive regulation of TORC1 signaling. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C20orf148

MANE transcript

NM_080823.4

Inheritance

—

ClinVar variants

U:89B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr20:63,538,489-63,547,749

External References & Databases

Ensembl (ENSG00000125508)

Transcript & Mutation Effects

hg38 • Region Span ~9.3 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 SRMS variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_080823.4. 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			2 clinvar	1 clinvar	1 clinvar	4
missense			86 clinvar	11 clinvar		97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	89	12	1	102

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_080823.4	RefSeq	NP_543013.1	8	MANE Select
ENST00000217188.2	Ensembl	ENSP00000217188.1	8	MANE Select
ENST00001132818.1	Ensembl	ENSP00000801586.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Focal Adhesion
Signaling by PTK6
Signal Transduction
PTK6 Down-Regulation
Signaling by Non-Receptor Tyrosine Kinases

Biological Process

transmembrane receptor protein tyrosine kinase signaling pathway
negative regulation of signal transduction
peptidyl-tyrosine phosphorylation
cell differentiation
peptidyl-tyrosine autophosphorylation

Molecular Function

protein tyrosine kinase activity
non-membrane spanning protein tyrosine kinase activity
signaling receptor binding
protein binding
ATP binding

Cellular Component

cytoplasm
cytosol
extrinsic component of cytoplasmic side of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000217188
Coding exons: 8
Length: 6695
Individuals with no LoFs: 125438
Homozygous LoFs: 0
Heterozygous LoFs: 81
Defined: 125519
p: 0.000323

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.00752	307	307	0.999	0.0000218	3072
Missense (PolyPhen)		107	105.14	1.0176		1173
Synonymous	0.681	134	144	0.928	0.0000110	1022
Loss of Function	-0.112	18	17.5	1.03	8.06e-7	213

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00070	0.00068	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00076	0.00076	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00017	0.00016	rare
South Asian	0.0010	0.00091	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues (PubMed:23822091). Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues (PubMed:29496907). Phosphorylation of KHDRBS1 is EGF-dependent (PubMed:29496907). {ECO:0000269|PubMed:23822091, ECO:0000269|PubMed:29496907}.;

Recessive Scores

pRec: 0.238

Intolerance Scores

LoFtool: 0.344
RVIS EVS: 0.99
RVIS percentile EVS: 90.48

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.266

Gene Damage Prediction

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