HHIPL2

HHIP like 2

Basic information

Region (hg38): 1:222522258-222548104

Previous symbols: [ "KIAA1822L" ]

Links

ENSG00000143512 ∙ NCBI:79802 ∙ OMIM:620214 ∙ HGNC:25842 ∙ Uniprot:Q6UWX4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HHIPL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HHIPL2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			70	2	1	73
nonsense						0
start loss						0
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	70	2	5

Variants in HHIPL2

This is a list of pathogenic ClinVar variants found in the HHIPL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-222522623-C-G		not specified	Uncertain significance (Mar 17, 2023)
1-222522671-C-T		not specified	Uncertain significance (Jan 26, 2025)
1-222522679-C-T			Benign (Jun 15, 2018)
1-222522707-A-G		not specified	Uncertain significance (Oct 04, 2022)
1-222522729-C-CA			Benign (Dec 31, 2019)
1-222522731-G-A		not specified	Uncertain significance (Mar 15, 2024)
1-222522824-G-A		not specified	Uncertain significance (Mar 30, 2022)
1-222522829-A-T		not specified	Uncertain significance (Aug 04, 2023)
1-222522863-T-A		not specified	Uncertain significance (Sep 25, 2024)
1-222523636-G-A		not specified	Uncertain significance (Dec 05, 2024)
1-222523641-C-G		not specified	Uncertain significance (Jun 27, 2023)
1-222523654-C-G		not specified	Uncertain significance (Nov 21, 2022)
1-222526975-G-A		not specified	Uncertain significance (Dec 13, 2022)
1-222527017-C-G		not specified	Uncertain significance (Dec 28, 2022)
1-222527024-A-G		not specified	Uncertain significance (Jan 31, 2024)
1-222527045-G-C		not specified	Uncertain significance (Mar 08, 2025)
1-222532001-C-T		not specified	Uncertain significance (Jan 10, 2023)
1-222532032-A-G		not specified	Uncertain significance (Dec 03, 2021)
1-222532102-C-G		not specified	Uncertain significance (Jan 23, 2024)
1-222532103-A-G		not specified	Uncertain significance (Sep 06, 2022)
1-222532109-C-T		not specified	Uncertain significance (Aug 19, 2024)
1-222538688-T-C		not specified	Uncertain significance (Oct 29, 2024)
1-222538690-G-T		not specified	Uncertain significance (May 23, 2023)
1-222538708-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-222538766-G-T			Benign/Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HHIPL2	protein_coding	protein_coding	ENST00000343410	9	25844

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.73e-23	0.000220	125127	2	618	125747	0.00247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.220	406	419	0.970	0.0000248	4705
Missense in Polyphen		155	163.18	0.9499		1946
Synonymous	0.0994	171	173	0.990	0.0000106	1460
Loss of Function	-0.577	32	28.7	1.12	0.00000172	325

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0206	0.0198
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00463	0.00458
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00142	0.00141
Middle Eastern	0.00463	0.00458
South Asian	0.000558	0.000555
Other	0.00198	0.00196

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0865

Intolerance Scores

• loftool: 0.959
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.76

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.167

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hhipl2

Gene ontology

• Cellular component: extracellular region
• Molecular function: catalytic activity;protein binding