RELCH

protein-coding

RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing, the group of Armadillo like helical domain containing

Gene summary

Involved in intracellular cholesterol transport. Located in recycling endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1468

MANE transcript

NM_001346231.2

Inheritance

—

ClinVar variants

U:127B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr18:62,187,255-62,310,249

External References & Databases

Ensembl (ENSG00000134444)

Transcript & Mutation Effects

hg38 • Region Span ~123.0 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 RELCH variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 119

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001346231.2. 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			3 clinvar	2 clinvar	1 clinvar	6
missense			119 clinvar		1 clinvar	120
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	127	2	2	131

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 60 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001346231.2	RefSeq	NP_001333160.1	29	MANE Select
ENST00000644646.2	Ensembl	ENSP00000494314.1	29	MANE Select
NM_001346229.2	RefSeq	NP_001333158.1	30	Standard
NM_001346230.2	RefSeq	NP_001333159.1	30	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intracellular cholesterol transport

Cellular Component

trans-Golgi network
recycling endosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398130
Coding exons: 29
Length: 119865
Individuals with no LoFs: 125736
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125748
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.87	361	636	0.568	0.0000315	7867
Missense (PolyPhen)		99	243.97	0.4058		3003
Synonymous	1.82	200	236	0.849	0.0000117	2387
Loss of Function	6.57	9	67.0	0.134	0.00000359	823

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000093	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates intracellular cholesterol distribution from recycling endosomes to the trans-Golgi network through interactions with RAB11 and OSBP (PubMed:29514919). Functions in membrane tethering and promotes OSBP-mediated cholesterol transfer between RAB11-bound recycling endosomes and OSBP-bound Golgi-like membranes (PubMed:29514919). {ECO:0000269|PubMed:29514919}.;

Recessive Scores

pRec: 0.121

Intolerance Scores

RVIS EVS: -1.29
RVIS percentile EVS: 5.08

Essentials

Essential (gene trap): N