SRARP

protein-coding

steroid receptor associated and regulated protein

Gene summary

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf64

MANE transcript

NM_178840.4

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.74

Max pathogenic AF

—

Genomic locus

chr1:16,004,236-16,008,807

External References & Databases

Ensembl (ENSG00000183888)

Transcript & Mutation Effects

hg38 • Region Span ~4.6 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 SRARP variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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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_178840.4	RefSeq	NP_849162.1	2	MANE Select
ENST00000329454.2	Ensembl	ENSP00000332162.2	2	MANE Select
ENST00001145845.1	Ensembl	ENSP00000807351.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329454
Coding exons: 2
Length: 4572
Individuals with no LoFs: 106421
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 106424
p: 0.0000141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.108	98	101	0.970	0.00000577	1055
Missense (PolyPhen)		19	18.602	1.0214		253
Synonymous	-0.855	52	44.7	1.16	0.00000298	379
Loss of Function	0.281	1	1.35	0.739	5.74e-8	16

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000059	0.000059	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000043	0.000043	rare
Other	0.00020	0.00020	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate the transcriptional function of androgen and estrogen receptors. {ECO:0000269|PubMed:22341523, ECO:0000269|PubMed:28915724}.;

Intolerance Scores

RVIS EVS: 0.19
RVIS percentile EVS: 66.82

Essentials

Essential (gene trap): N