LBHD2

Summary

LBHD2 (LBH domain containing 2, HGNC:52384) is a protein-coding gene on chromosome 14q32.32, encoding LBH domain-containing protein 2 (A0A0U1RRK4).

At a glance

• MANE Select transcript: NM_001330236

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52384
Approved symbol	LBHD2
Name	LBH domain containing 2
Location	14q32.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283071
Ensembl biotype	protein_coding
Entrez	107984640

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000634353, ENST00000965043

RefSeq mRNA: 1 — MANE Select: NM_001330236 NM_001330236

CCDS: CCDS81855

Canonical transcript exons

ENST00000634353 — 4 exons

Exon	Start	End
ENSE00003785963	103089697	103090027
ENSE00003787925	103088085	103088241
ENSE00003788835	103084210	103084347
ENSE00003790068	103085976	103086081

Expression profiles

Bgee: expression breadth broad, 74 present calls, max score 85.15.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.15	gold quality
hypothalamus	UBERON:0001898	77.32	gold quality
Ammon’s horn	UBERON:0001954	74.48	gold quality
amygdala	UBERON:0001876	70.35	gold quality
temporal lobe	UBERON:0001871	70.18	gold quality
anterior cingulate cortex	UBERON:0009835	66.34	gold quality
cerebral cortex	UBERON:0000956	64.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.67	gold quality
substantia nigra	UBERON:0002038	62.39	gold quality
right frontal lobe	UBERON:0002810	62.30	gold quality
frontal cortex	UBERON:0001870	61.98	gold quality
prefrontal cortex	UBERON:0000451	61.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	60.80	gold quality
superior frontal gyrus	UBERON:0002661	58.52	gold quality
omental fat pad	UBERON:0010414	58.28	gold quality
left testis	UBERON:0004533	56.62	gold quality
right testis	UBERON:0004534	56.36	gold quality
brain	UBERON:0000955	56.14	gold quality
testis	UBERON:0000473	55.46	gold quality
primary visual cortex	UBERON:0002436	54.90	gold quality
adrenal tissue	UBERON:0018303	53.34	gold quality
nucleus accumbens	UBERON:0001882	52.30	gold quality
adipose tissue	UBERON:0001013	50.64	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	50.46	gold quality
putamen	UBERON:0001874	49.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	48.90	gold quality
cerebellum	UBERON:0002037	47.46	gold quality
cerebellar cortex	UBERON:0002129	47.27	gold quality
cerebellar hemisphere	UBERON:0002245	47.10	gold quality
caudate nucleus	UBERON:0001873	45.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.64

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

LBH domain-containing protein 2 — A0A0U1RRK4 (reviewed: A0A0U1RRK4)

All UniProt accessions (1): A0A0U1RRK4

RefSeq proteins (1): NP_001317165* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038990	LBH_dom	Domain
IPR042945	LBH_dom_prot	Family

Pfam: PF15317

UniProt features (5 total): compositionally biased region 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0U1RRK4-F1	65.64	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr14q32

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

60 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LBHD2	TPBGL	P0DKB5	349
LBHD2	CDHR1	Q96JP9	324
LBHD2	CHST9	Q7L1S5	271
LBHD2	SERTM1	A2A2V5	269
LBHD2	A0A0B4J1T7	A0A0B4J1T7	250
LBHD2	TAFA2	Q8N3H0	249
LBHD2	SIAH3	Q8IW03	245
LBHD2	TSPAN10	Q9H1Z9	213
LBHD2	KCNA10	Q16322	205
LBHD2	SHISA6	Q6ZSJ9	203
LBHD2	MUSTN1	Q8IVN3	197
LBHD2	C1QL1	O75973	195
LBHD2	DOC2B	Q14184	193
LBHD2	BNIP3L	O60238	191
LBHD2	LRATD2	Q96KN1	190

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: A0A0U1RRK4, A5PJU8, Q53QV2, Q5M7L2, Q5RD13, Q5ZM46, Q91715, Q9CX60

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

529 predictions. Top by Δscore:

Variant	Effect	Δscore
14:103084271:GC:G	donor_gain	1.0000
14:103088083:A:AG	acceptor_gain	1.0000
14:103088083:AG:A	acceptor_gain	1.0000
14:103088083:AGGCT:A	acceptor_gain	1.0000
14:103088084:G:GC	acceptor_gain	1.0000
14:103088084:GG:G	acceptor_gain	1.0000
14:103088084:GGC:G	acceptor_gain	1.0000
14:103088084:GGCT:G	acceptor_gain	1.0000
14:103088084:GGCTG:G	acceptor_gain	1.0000
14:103088238:GCTG:G	donor_gain	1.0000
14:103088240:TGG:T	donor_loss	1.0000
14:103088241:GGTA:G	donor_loss	1.0000
14:103088242:G:GG	donor_gain	1.0000
14:103088243:T:A	donor_loss	1.0000
14:103084269:GAGC:G	donor_gain	0.9900
14:103084273:G:GG	donor_gain	0.9900
14:103084343:GC:G	donor_gain	0.9900
14:103084344:C:G	donor_gain	0.9900
14:103085974:A:AG	acceptor_gain	0.9900
14:103085975:G:GG	acceptor_gain	0.9900
14:103088079:TTGCA:T	acceptor_gain	0.9900
14:103088080:TGCAG:T	acceptor_gain	0.9900
14:103088081:GCAGG:G	acceptor_gain	0.9900
14:103088082:CAGGC:C	acceptor_gain	0.9900
14:103088083:AGGC:A	acceptor_gain	0.9900
14:103088084:G:T	acceptor_gain	0.9900
14:103088200:A:T	donor_gain	0.9900
14:103088237:TGCTG:T	donor_gain	0.9900
14:103088238:GCTGG:G	donor_gain	0.9900
14:103088239:CTG:C	donor_gain	0.9900

AlphaMissense

672 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:103088175:A:C	S54R	0.898
14:103088177:T:A	S54R	0.898
14:103088177:T:G	S54R	0.898
14:103088192:G:C	W59C	0.895
14:103088192:G:T	W59C	0.895
14:103088190:T:A	W59R	0.875
14:103088190:T:C	W59R	0.875
14:103088140:T:A	I42N	0.874
14:103088140:T:G	I42S	0.828
14:103088140:T:C	I42T	0.741
14:103088176:G:T	S54I	0.733
14:103088134:C:A	P40H	0.719
14:103088145:G:C	V44L	0.713
14:103088145:G:T	V44L	0.713
14:103088133:C:A	P40T	0.694
14:103088178:G:T	G55W	0.693
14:103088179:G:T	G55V	0.680
14:103088139:A:T	I42F	0.666
14:103088133:C:T	P40S	0.648
14:103088191:G:C	W59S	0.648
14:103088179:G:A	G55E	0.636
14:103088187:C:A	R58S	0.635
14:103088185:T:C	L57P	0.622
14:103088145:G:A	V44M	0.621
14:103088183:G:C	E56D	0.618
14:103088183:G:T	E56D	0.618
14:103088182:A:G	E56G	0.613
14:103088176:G:A	S54N	0.595
14:103088185:T:A	L57Q	0.594
14:103088134:C:T	P40L	0.593

dbSNP variants (sampled 300 via entrez): RS1000111763 (14:103086539 TA>T,TAA), RS1000189794 (14:103083014 G>A), RS1001117530 (14:103088594 G>A), RS1001509941 (14:103087977 T>A,G), RS1001772097 (14:103082541 C>G,T), RS1001946549 (14:103090377 C>T), RS1002063562 (14:103087744 C>T), RS1002571943 (14:103088115 C>T), RS1002602992 (14:103088337 C>T), RS1003354610 (14:103089627 C>T), RS1003460188 (14:103084381 G>C), RS1004060912 (14:103084582 G>A), RS1004677550 (14:103084079 G>A), RS1004713692 (14:103083348 G>A), RS1004826731 (14:103089297 C>G)

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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Methapyrilene	decreases methylation	1

Clinical trials (associated diseases)

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