PABIR2

Summary

PABIR2 (PABIR family member 2, HGNC:30490) is a protein-coding gene on chromosome Xq26.3, encoding PABIR family member 2 (Q7Z309).

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be part of collagen trimer.

Source: NCBI Gene 159090 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 107 total
• MANE Select transcript: NM_001387468

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30490
Approved symbol	PABIR2
Name	PABIR family member 2
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686L20116, RP11-308B5.5, SPACIA2
Ensembl gene	ENSG00000156504
Ensembl biotype	protein_coding
Entrez	159090

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000298090, ENST00000343004, ENST00000370790, ENST00000465128, ENST00000478384, ENST00000486347, ENST00000493333, ENST00000611027, ENST00000896543, ENST00000896544, ENST00000896545

RefSeq mRNA: 14 — MANE Select: NM_001387468 NM_001166599, NM_001166600, NM_001170756, NM_001170757, NM_001331088, NM_001331089, NM_001331090, NM_001331091, NM_001331092, NM_001331093, NM_001331094, NM_001387468, NM_001387469, NM_145284

CCDS: CCDS14643, CCDS55497, CCDS55498, CCDS55499, CCDS94668

Canonical transcript exons

ENST00000343004 — 10 exons

Exon	Start	End
ENSE00001453637	134769566	134772283
ENSE00003458809	134789085	134789139
ENSE00003504375	134793815	134793893
ENSE00003506134	134787472	134787533
ENSE00003514851	134788730	134788831
ENSE00003538291	134789580	134789636
ENSE00003542471	134781821	134781917
ENSE00003653346	134785886	134785950
ENSE00003684487	134789223	134789266
ENSE00003711817	134796108	134797205

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 97.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.0413 / max 705.5640, expressed in 1816 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200599	29.7969	1812
200594	2.6632	1167
200595	2.6000	1129
200600	0.9440	494
200593	0.6964	273
200597	0.5463	302
200598	0.3649	187
200596	0.2382	89
200592	0.1915	39

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	97.53	gold quality
germinal epithelium of ovary	UBERON:0001304	96.71	gold quality
epithelial cell of pancreas	CL:0000083	96.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.92	gold quality
thymus	UBERON:0002370	94.45	gold quality
epithelium of nasopharynx	UBERON:0001951	94.22	gold quality
ileal mucosa	UBERON:0000331	93.95	gold quality
secondary oocyte	CL:0000655	93.39	gold quality
oviduct epithelium	UBERON:0004804	92.85	gold quality
palpebral conjunctiva	UBERON:0001812	92.62	gold quality
oocyte	CL:0000023	92.53	gold quality
primary visual cortex	UBERON:0002436	92.12	gold quality
left ovary	UBERON:0002119	91.59	gold quality
right ovary	UBERON:0002118	91.18	gold quality
eye	UBERON:0000970	91.11	gold quality
adrenal tissue	UBERON:0018303	91.08	gold quality
ovary	UBERON:0000992	91.05	gold quality
right testis	UBERON:0004534	90.88	gold quality
monocyte	CL:0000576	90.70	gold quality
visceral pleura	UBERON:0002401	90.68	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.68	gold quality
nucleus accumbens	UBERON:0001882	90.64	gold quality
ventricular zone	UBERON:0003053	90.64	gold quality
parietal pleura	UBERON:0002400	90.55	gold quality
leukocyte	CL:0000738	90.54	gold quality
occipital lobe	UBERON:0002021	90.49	gold quality
corpus epididymis	UBERON:0004359	90.48	gold quality
lymph node	UBERON:0000029	90.44	gold quality
skin of hip	UBERON:0001554	90.43	gold quality
fallopian tube	UBERON:0003889	90.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

150 targeting PABIR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-539-5P	99.93	70.30	2855

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pabir2	ENSDARG00000036500
mus_musculus	Pabir2	ENSMUSG00000036022
rattus_norvegicus	Pabir2	ENSRNOG00000002285
drosophila_melanogaster	CG4497	FBGN0031895
caenorhabditis_elegans		WBGENE00018518

Paralogs (2): PABIR3 (ENSG00000156500), PABIR1 (ENSG00000187866)

Protein

Protein identifiers

PABIR family member 2 — Q7Z309 (reviewed: Q7Z309)

All UniProt accessions (3): Q7Z309, G1UD79, G1UD80

UniProt curated annotations — full annotation on UniProt →

Post-translational modifications. Isoform 3 and isoform 4 are phosphorylated on Ser-62 and Ser-64.

Similarity. Belongs to the FAM122 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7Z309-1	1	yes
Q7Z309-2	2
Q7Z309-3	3
Q7Z309-4	4
Q7Z309-5	5

RefSeq proteins (14): NP_001160071, NP_001160072, NP_001164227, NP_001164228, NP_001318017, NP_001318018, NP_001318019, NP_001318020, NP_001318021, NP_001318022, NP_001318023, NP_001374397, NP_001374398, NP_660327 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026716	PBIR1/2/3	Family

UniProt features (27 total): modified residue 13, region of interest 5, splice variant 4, compositionally biased region 3, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z309-F1	60.46	0.05

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (13): 2, 25, 33, 50, 58, 112, 115, 119, 122, 137, 141, 63, 63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, TGCGCANK_UNKNOWN, RORA1_01, WANG_RECURRENT_LIVER_CANCER_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GTGCCTT_MIR506, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, OCT1_03, AAAGGGA_MIR204_MIR211, GOBP_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, AACTTT_UNKNOWN, GFI1_01, GOBP_POSITIVE_REGULATION_OF_PROTEOLYSIS

GO Biological Process (0):

GO Molecular Function (1): protein serine/threonine phosphatase inhibitor activity (GO:0004865)

GO Cellular Component (1): collagen trimer (GO:0005581)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein serine/threonine phosphatase activity	1
protein phosphatase inhibitor activity	1
protein-containing complex	1

Protein interactions and networks

STRING

340 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PABIR2	C8orf58	Q8NAV2	475
PABIR2	TTC13	Q8NBP0	474
PABIR2	PAGE2B	Q5JRK9	434
PABIR2	SANBR	Q6NSI8	431
PABIR2	RIN2	Q8WYP3	399
PABIR2	PWWP3B	Q5H9M0	394
PABIR2	INTS6L	Q5JSJ4	394
PABIR2	AMMECR1	Q9Y4X0	384
PABIR2	RBMX2	Q9Y388	371
PABIR2	UBE2Q1	Q7Z7E8	363
PABIR2	PLAC1	Q9HBJ0	360
PABIR2	MAP7D2	Q96T17	354
PABIR2	SYAP1	Q96A49	352
PABIR2	ZNF333	Q96JL9	351
PABIR2	C21orf91	Q9NYK6	350

IntAct

56 interactions, top by confidence:

A	B	Type	Score
PABIR1	PPP2R1A	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
TUSC3	RPN2	psi-mi:“MI:0914”(association)	0.730
PPP2R2C	PPP2R1A	psi-mi:“MI:0914”(association)	0.730
PPP2R2D	YEATS4	psi-mi:“MI:0914”(association)	0.730
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
PPP2R2B	MYO9A	psi-mi:“MI:0914”(association)	0.640
PPP2R2C	TCP1	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
PABIR2	YWHAQ	psi-mi:“MI:0914”(association)	0.610
YWHAE	SRSF10	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
WDR83	SH2B2	psi-mi:“MI:0914”(association)	0.530
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
SPIN2B	WDHD1	psi-mi:“MI:0914”(association)	0.530
ANKRD29	ADD1	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
Cenpe	BBX	psi-mi:“MI:0914”(association)	0.350
Ppp2r2d	KLF4	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
CHM	POLR3A	psi-mi:“MI:0914”(association)	0.350
WDR48	UNC13B	psi-mi:“MI:0914”(association)	0.350
PPP2CA	ENSA	psi-mi:“MI:0914”(association)	0.350
PPP2CB	ENSA	psi-mi:“MI:0914”(association)	0.350
MYC	PDZD2	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS), FAM122B (Affinity Capture-MS)

ESM2 similar proteins: A2AQ25, A4IGU9, A7E300, A8E4V2, B5DF41, B5DGK1, F1N4M2, O15079, O55003, O60238, O60516, Q0IHF8, Q0P5A7, Q12983, Q13541, Q14DQ1, Q1LWL8, Q3B7T9, Q3T013, Q3UN70, Q3ZCB6, Q5PR01, Q5XG16, Q5XKK7, Q5ZLN7, Q60876, Q62622, Q62739, Q63744, Q68EF0, Q68FF7, Q6AYT4, Q6PBI2, Q6PFP3, Q6ZNC4, Q7Z309, Q80U23, Q80VV3, Q8AVU0, Q8LD26

Diamond homologs: Q5ZLN7, Q6AYT4, Q6NZE7, Q6P4D5, Q7Z309, Q96E09, Q9DB52

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	93.2×	3e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	82.3×	5e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	82.3×	5e-09
Activation of BH3-only proteins	6	60.8×	3e-08
RAF activation	6	41.1×	3e-07
RHO GTPases activate PKNs	6	38.8×	4e-07
Intrinsic Pathway for Apoptosis	6	35.9×	5e-07
FOXO-mediated transcription	5	34.3×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	29.5×	3e-04
mitotic cell cycle	6	12.9×	1e-03
intracellular protein localization	7	11.8×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1004 predictions. Top by Δscore:

Variant	Effect	Δscore
X:134786052:T:C	donor_gain	1.0000
X:134787468:TTA:T	donor_loss	1.0000
X:134787469:TAC:T	donor_loss	1.0000
X:134787470:A:AC	donor_gain	1.0000
X:134787470:AC:A	donor_gain	1.0000
X:134787471:C:CC	donor_gain	1.0000
X:134787471:C:CG	donor_loss	1.0000
X:134787471:CC:C	donor_gain	1.0000
X:134787531:CAT:C	acceptor_gain	1.0000
X:134787532:ATC:A	acceptor_loss	1.0000
X:134787533:TCT:T	acceptor_loss	1.0000
X:134787534:C:CC	acceptor_gain	1.0000
X:134787553:CATTA:C	acceptor_gain	1.0000
X:134788830:CT:C	acceptor_gain	1.0000
X:134789079:CTTTA:C	donor_loss	1.0000
X:134789080:TTTA:T	donor_loss	1.0000
X:134789081:TTA:T	donor_loss	1.0000
X:134789082:TACC:T	donor_loss	1.0000
X:134789083:A:G	donor_loss	1.0000
X:134789084:C:CT	donor_loss	1.0000
X:134789084:CCAGG:C	donor_gain	1.0000
X:134789138:CC:C	acceptor_gain	1.0000
X:134789139:CC:C	acceptor_gain	1.0000
X:134789140:C:CC	acceptor_gain	1.0000
X:134789219:TAACC:T	donor_loss	1.0000
X:134789220:AACC:A	donor_loss	1.0000
X:134789221:ACC:A	donor_loss	1.0000
X:134789266:CCTG:C	acceptor_loss	1.0000
X:134789267:C:A	acceptor_loss	1.0000
X:134789268:T:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000413629 (X:134791526 C>A), RS1000636478 (X:134774386 T>C), RS1000841775 (X:134795986 G>A), RS1000928044 (X:134796848 G>A,C), RS1001022098 (X:134794195 C>T), RS1001070013 (X:134774086 C>T), RS1001175976 (X:134784410 G>A), RS1001177532 (X:134790966 G>C), RS1001207022 (X:134783849 G>A), RS1001278618 (X:134770423 G>A), RS1001389712 (X:134794601 C>T), RS1001413978 (X:134785133 T>C,G), RS1001813389 (X:134771166 T>C), RS1001946694 (X:134772743 C>G,T), RS1001961523 (X:134783478 G>C)

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

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Cadmium	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
alpha phellandrene	increases expression	1
bisphenol A	increases expression	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
coumarin	affects phosphorylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Coumestrol	increases expression	1
Hydrogen Peroxide	increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	decreases expression	1
Quercetin	increases expression	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Aflatoxin B1	affects expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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