RPL36A-HNRNPH2

protein-coding

RPL36A-HNRNPH2 readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:1

Top phenotype

Angiokeratoma corporis diffusum

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chrX:101,391,011-101,412,297

External References & Databases

Ensembl (ENSG00000257529)

NCBI Gene (100529097)

HGNC:48349

GenCC

ClinVar (RPL36A-HNRNPH2)

Transcript & Mutation Effects

hg38 • Region Span ~21.3 kb

Loading mutation effect viewer...

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 RPL36A-HNRNPH2 variants in ClinVar

17 Conditions Cataloged

Angiokeratoma corporis diffusumTotal: 701

not providedTotal: 383

Cardiovascular phenotypeTotal: 109

not specifiedTotal: 88

Migalastat responseTotal: 46

CardiomyopathyTotal: 21

GLA-related conditionTotal: 12

Hypertrophic cardiomyopathyTotal: 9

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	Sum
synonymous					1 clinvar	1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	1	1

Highest pathogenic variant AF is 0.00000893871

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001199973.2	RefSeq	NP_001186902.2	5	Standard
NM_001199974.2	RefSeq	NP_001186903.2	4	Standard
ENST00000409170.3	Ensembl	ENSP00000386655.4	5	Standard
ENST00000409338.5	Ensembl	ENSP00000386974.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ribosome - Homo sapiens (human)

Biological Process

translation

Molecular Function

structural constituent of ribosome

Cellular Component

endoplasmic reticulum
cytosol
plasma membrane
cytosolic large ribosomal subunit

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000409170
Coding exons: 5
Length: 21287
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.951	28	46.2	0.606	0.00000322	842
Missense (PolyPhen)		0	2.9267	0		96
Synonymous	-0.579	20	17.0	1.18	0.00000118	229
Loss of Function	1.57	1	4.67	0.214	2.94e-7	93

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	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP