LRRC14B

Summary

LRRC14B (leucine rich repeat containing 14B, HGNC:37268) is a protein-coding gene on chromosome 5p15.33, encoding Leucine-rich repeat-containing protein 14B (A6NHZ5).

The protein encoded by this gene is a leucine-rich repeat containing protein that is a member of the PRAME family.

Source: NCBI Gene 389257 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 118 total — 2 pathogenic
• MANE Select transcript: NM_001080478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37268
Approved symbol	LRRC14B
Name	leucine rich repeat containing 14B
Location	5p15.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185028
Ensembl biotype	protein_coding
Entrez	389257

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000328278

RefSeq mRNA: 1 — MANE Select: NM_001080478 NM_001080478

CCDS: CCDS47184

Canonical transcript exons

ENST00000328278 — 2 exons

Exon	Start	End
ENSE00001306294	191495	192437
ENSE00001329206	194708	196334

Expression profiles

Bgee: expression breadth broad, 62 present calls, max score 93.89.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0734 / max 27.9290, expressed in 24 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
55445	0.0690	24
55444	0.0045	2

Top tissues by expression

110 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	93.89	gold quality
skeletal muscle tissue	UBERON:0001134	92.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.50	gold quality
gastrocnemius	UBERON:0001388	88.45	gold quality
muscle of leg	UBERON:0001383	87.40	gold quality
heart left ventricle	UBERON:0002084	86.62	gold quality
right atrium auricular region	UBERON:0006631	81.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.11	silver quality
heart	UBERON:0000948	78.40	gold quality
muscle tissue	UBERON:0002385	77.03	gold quality
nucleus accumbens	UBERON:0001882	53.45	gold quality
bone marrow cell	CL:0002092	49.87	gold quality
putamen	UBERON:0001874	49.39	gold quality
hypothalamus	UBERON:0001898	49.15	gold quality
caudate nucleus	UBERON:0001873	48.64	gold quality
cerebellum	UBERON:0002037	47.02	silver quality
cerebellar cortex	UBERON:0002129	46.85	silver quality
cerebellar hemisphere	UBERON:0002245	46.80	silver quality
right hemisphere of cerebellum	UBERON:0014890	45.95	silver quality
bone marrow	UBERON:0002371	45.49	gold quality
substantia nigra	UBERON:0002038	45.07	gold quality
prefrontal cortex	UBERON:0000451	43.94	gold quality
cortex of kidney	UBERON:0001225	42.58	gold quality
brain	UBERON:0000955	42.27	gold quality
frontal cortex	UBERON:0001870	41.06	gold quality
adrenal tissue	UBERON:0018303	41.06	silver quality
cortical plate	UBERON:0005343	40.87	silver quality
superior frontal gyrus	UBERON:0002661	40.30	silver quality
primary visual cortex	UBERON:0002436	39.78	gold quality
stromal cell of endometrium	CL:0002255	39.43	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.47

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrrc14b	ENSDARG00000060788
mus_musculus	Lrrc14b	ENSMUSG00000021579
rattus_norvegicus	Lrrc14b	ENSRNOG00000028357

Paralogs (24): PRAMEF1 (ENSG00000116721), PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), LRRC14 (ENSG00000160959), PRAMEF8 (ENSG00000182330), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF15 (ENSG00000204501), PRAMEF9 (ENSG00000204505), PRAMEF7 (ENSG00000204510), PRAMEF25 (ENSG00000229571), PRAMEF6 (ENSG00000232423), PRAMEF33 (ENSG00000237700), PRAMEF11 (ENSG00000239810), PRAMEF4 (ENSG00000243073), PRAMEF5 (ENSG00000270601), PRAMEF27 (ENSG00000274764), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)

Protein

Protein identifiers

Leucine-rich repeat-containing protein 14B — A6NHZ5 (reviewed: A6NHZ5)

All UniProt accessions (1): A6NHZ5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PRAME family. LRRC14 subfamily.

RefSeq proteins (1): NP_001073947* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050694	LRRC14/PRAME	Family

UniProt features (9 total): repeat 8, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NHZ5-F1	91.92	0.77

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): NIKOLSKY_BREAST_CANCER_5P15_AMPLICON, HDAC4_TARGET_GENES, HEY2_TARGET_GENES, ZNF512B_TARGET_GENES, ZNF8_TARGET_GENES, MEF2C_TARGET_GENES, chr5p15, GENES_CORRELATED_WITH_RICTOR_DELETION, GSE5589_WT_VS_IL10_KO_LPS_STIM_MACROPHAGE_180MIN_UP, GSE6674_UNSTIM_VS_PL2_3_STIM_BCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

332 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC14B	LRRC30	A6NM36	570
LRRC14B	LRRC20	Q8TCA0	548
LRRC14B	ASB12	Q8WXK4	527
LRRC14B	OR13C8	Q8NGS7	517
LRRC14B	TMEM191B	P0C7N4	505
LRRC14B	CCDC127	Q96BQ5	499
LRRC14B	TMEM236	Q5W0B7	499
LRRC14B	PLEKHG4B	Q96PX9	480
LRRC14B	DRC11L	A6NCM1	475
LRRC14B	LRRC38	Q5VT99	465
LRRC14B	TMEM38A	Q9H6F2	450
LRRC14B	PIK3IP1	Q96FE7	448
LRRC14B	FAM47B	Q8NA70	447
LRRC14B	ZNF276	Q8N554	444
LRRC14B	TTC9	Q92623	433

IntAct

4 interactions, top by confidence:

A	B	Type	Score
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
LRRC14B	LETM1	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): LRRC14B (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), LETM1 (Affinity Capture-MS), TCEB1 (Affinity Capture-MS)

ESM2 similar proteins: A2ASA8, A5PJJ5, A6NE52, A6NHZ5, B6CZ46, E9QAM5, G7PWZ3, P08571, P10810, P33076, P52824, P79621, P86243, Q15048, Q15345, Q1L8H0, Q28680, Q32PG9, Q3U1Y4, Q3UJB3, Q3UWY1, Q3V1N1, Q3V3V9, Q3ZBI5, Q569B5, Q5BK65, Q5DU56, Q5M936, Q63035, Q63691, Q640Z9, Q66H52, Q68EF8, Q6F5E8, Q6GPH6, Q6P5E8, Q6QNU9, Q6R5P0, Q7RTR2, Q80VA5

Diamond homologs: A3QJZ7, A5PJJ5, A6NGN4, A6NHZ5, H0Y7S4, O60810, P0DUQ1, P0DUQ2, P78395, Q15048, Q1L8H0, Q3UJB3, Q569B5, Q5TYX0, Q5VT98, Q5VXH4, Q5VXH5, Q640Z9, Q8VC16, O60813, A0A0G2JMD5, A3QJZ6, E9Q5G7, O60809, O60811, O95521, O95522, Q3UWY1, Q5SWL7, Q5SWL8, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q7TPX8, Q810Y8, Q99MW3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

118 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	105
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	Pathogenic
563023	GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	Pathogenic

SpliceAI

160 predictions. Top by Δscore:

Variant	Effect	Δscore
5:194698:T:TA	acceptor_gain	1.0000
5:194706:A:AG	acceptor_gain	1.0000
5:194707:G:GA	acceptor_gain	1.0000
5:194707:GC:G	acceptor_gain	1.0000
5:194707:GCC:G	acceptor_gain	1.0000
5:194707:GCCCC:G	acceptor_gain	1.0000
5:192436:GG:G	donor_gain	0.9900
5:192437:GG:G	donor_gain	0.9900
5:192438:G:GG	donor_gain	0.9900
5:192438:GTGA:G	donor_loss	0.9900
5:192439:T:A	donor_loss	0.9900
5:194696:C:CA	acceptor_gain	0.9900
5:194707:GCCC:G	acceptor_gain	0.9900
5:192417:G:GT	donor_gain	0.9800
5:192417:G:T	donor_gain	0.9800
5:192440:GA:G	donor_loss	0.9800
5:194702:CTGCA:C	acceptor_gain	0.9800
5:194703:TGCA:T	acceptor_gain	0.9800
5:194704:GCA:G	acceptor_gain	0.9800
5:194705:CAGCC:C	acceptor_gain	0.9800
5:194706:AGCCC:A	acceptor_gain	0.9800
5:194707:G:T	acceptor_gain	0.9800
5:192433:CTTGG:C	donor_gain	0.9700
5:194703:T:TA	acceptor_gain	0.9700
5:192434:TTGG:T	donor_gain	0.9600
5:192435:TGG:T	donor_gain	0.9600
5:192436:GGG:G	donor_gain	0.9600
5:192441:AGTCT:A	donor_loss	0.9400
5:193022:G:GT	donor_gain	0.8000
5:193049:G:GT	donor_gain	0.7500

AlphaMissense

3283 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:192400:T:C	F288L	0.990
5:192402:C:A	F288L	0.990
5:192402:C:G	F288L	0.990
5:191659:A:C	S41R	0.985
5:191661:C:A	S41R	0.985
5:191661:C:G	S41R	0.985
5:192029:T:A	V164D	0.985
5:195002:C:A	N398K	0.981
5:195002:C:G	N398K	0.981
5:191707:T:A	W57R	0.979
5:191707:T:C	W57R	0.979
5:194750:T:G	C314W	0.976
5:191934:G:C	W132C	0.973
5:191934:G:T	W132C	0.973
5:194779:T:C	L324S	0.973
5:195085:C:A	P426H	0.971
5:192025:T:C	F163L	0.969
5:192027:C:A	F163L	0.969
5:192027:C:G	F163L	0.969
5:192269:T:A	L244H	0.969
5:191723:T:C	F62S	0.967
5:195085:C:G	P426R	0.967
5:191709:G:C	W57C	0.966
5:191709:G:T	W57C	0.966
5:192389:T:C	L284P	0.965
5:191651:T:C	F38S	0.964
5:194821:T:A	L338H	0.964
5:195079:C:G	P424R	0.964
5:192380:T:A	L281H	0.963
5:195000:A:G	N398D	0.961

dbSNP variants (sampled 300 via entrez): RS1000609836 (5:189629 A>G), RS1000697452 (5:194293 C>T), RS1001058209 (5:190886 CA>C), RS1001210145 (5:190892 A>T), RS1002012013 (5:190086 G>T), RS1002200190 (5:191685 G>T), RS1002467454 (5:189806 G>A,C), RS1004177756 (5:191385 C>A,T), RS1004331104 (5:196059 G>A), RS1004558642 (5:190103 G>A,T), RS1004615883 (5:196151 G>A), RS1004875686 (5:194492 C>A,G,T), RS1005181591 (5:192278 C>A), RS10052239 (5:196531 G>A,C,T), RS1005292676 (5:190605 TAGTGATGTGTGC>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sulforaphane	decreases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cannabinoids	increases abundance, affects methylation	1
Doxorubicin	decreases expression	1
Phthalic Acids	increases methylation	1
Smoke	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.