HABP4

Summary

HABP4 (hyaluronan binding protein 4, HGNC:17062) is a protein-coding gene on chromosome 9q22.32, encoding Intracellular hyaluronan-binding protein 4 (Q5JVS0). Ribosome-binding protein that promotes ribosome hibernation, a process during which ribosomes are stabilized in an inactive state and preserved from proteasomal degradation.

Enables SUMO binding activity. Involved in PML body organization; positive regulation of RNA splicing; and positive regulation of translational initiation. Located in several cellular components, including cytoplasmic stress granule; nuclear lumen; and nuclear membrane.

Source: NCBI Gene 22927 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_014282

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17062
Approved symbol	HABP4
Name	hyaluronan binding protein 4
Location	9q22.32
Locus type	gene with protein product
Status	Approved
Aliases	IHABP4, SERBP1L
Ensembl gene	ENSG00000130956
Ensembl biotype	protein_coding
OMIM	617369
Entrez	22927

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000375249, ENST00000375251, ENST00000466976, ENST00000902233, ENST00000902234, ENST00000902235, ENST00000912522, ENST00000957525, ENST00000957526, ENST00000957527, ENST00000957528

RefSeq mRNA: 1 — MANE Select: NM_014282 NM_014282

CCDS: CCDS6719

Canonical transcript exons

ENST00000375249 — 8 exons

Exon	Start	End
ENSE00000804922	96458379	96458541
ENSE00000804925	96465337	96465498
ENSE00000804926	96465710	96465778
ENSE00000804929	96471011	96471094
ENSE00000804931	96484462	96484633
ENSE00001898474	96450169	96450628
ENSE00003502728	96488089	96488274
ENSE00003624163	96489982	96491336

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 98.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5620 / max 258.3651, expressed in 1686 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97528	11.9818	1673
97530	0.6307	197
97533	0.4108	148
97527	0.3294	157
97531	0.0985	32
97529	0.0847	36
97532	0.0260	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.30	gold quality
nucleus accumbens	UBERON:0001882	97.42	gold quality
olfactory bulb	UBERON:0002264	97.26	silver quality
type B pancreatic cell	CL:0000169	97.18	silver quality
putamen	UBERON:0001874	97.15	gold quality
right frontal lobe	UBERON:0002810	97.03	gold quality
caudate nucleus	UBERON:0001873	96.86	gold quality
cingulate cortex	UBERON:0003027	96.63	gold quality
amygdala	UBERON:0001876	96.55	gold quality
anterior cingulate cortex	UBERON:0009835	96.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.71	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.46	gold quality
male germ cell	CL:0000015	95.31	gold quality
prefrontal cortex	UBERON:0000451	95.31	gold quality
sperm	CL:0000019	95.13	gold quality
pons	UBERON:0000988	94.81	gold quality
spinal cord	UBERON:0002240	94.79	gold quality
primary visual cortex	UBERON:0002436	94.77	gold quality
middle temporal gyrus	UBERON:0002771	94.75	gold quality
neocortex	UBERON:0001950	94.71	gold quality
frontal cortex	UBERON:0001870	94.70	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.66	gold quality
telencephalon	UBERON:0001893	94.62	gold quality
occipital lobe	UBERON:0002021	94.33	gold quality
forebrain	UBERON:0001890	94.01	gold quality
substantia nigra	UBERON:0002038	93.97	gold quality
cerebral cortex	UBERON:0000956	93.88	gold quality
hypothalamus	UBERON:0001898	93.87	gold quality
midbrain	UBERON:0001891	93.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting HABP4, 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-6867-5P	100.00	82.21	3464
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-302E	99.96	70.74	2669
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
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-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833

Literature-anchored findings (GeneRIF, showing 9)

• interacts with the C-terminal region of the human chromatin-remodeling factor CHD-3 (PMID:12505151)
• association of Ki-1/57 with the RACK1/PKC pathway and may be important for the regulation of its cellular functions (PMID:14699138)
• MEF2C DNA-binding activity is inhibited through its interaction with Ki-1/57. (PMID:15862299)
• Has two conserved Gly/Arg-rich motif clusters (RGG/RXR box, where X is any amino acid) that may be substrates for arginine-methylation by PRMT1. (PMID:16879614)
• Data suggest that Ki-1/57 has characteristics of an intrinsically unstructured protein, which may explain its functional plasticity. (PMID:18788774)
• Findings suggest that Ki-1/57 is probably involved in cellular events related to RNA functions, such as pre-mRNA splicing. (PMID:19523114)
• Ki-1/57 is localized to several subnuclear domains, all of which have been described to splicing and other RNA processing events. (PMID:20436279)
• Ki-1/57 may be involved in translational regulation (PMID:21771594)
• Ki-1-57 is a target of sumoylation and affects pml nuclear body formation. (PMID:28695742)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:103482	ENSDARG00000025174
mus_musculus	Habp4	ENSMUSG00000021476
rattus_norvegicus	Habp4	ENSRNOG00000019027
drosophila_melanogaster	vig	FBGN0024183
drosophila_melanogaster	PPYR1	FBGN0030623
drosophila_melanogaster	vig2	FBGN0046214

Paralogs (1): SERBP1 (ENSG00000142864)

Protein

Protein identifiers

Intracellular hyaluronan-binding protein 4 — Q5JVS0 (reviewed: Q5JVS0)

Alternative names: Hyaluronan-binding protein 4, Ki-1/57 intracellular antigen

All UniProt accessions (1): Q5JVS0

UniProt curated annotations — full annotation on UniProt →

Function. Ribosome-binding protein that promotes ribosome hibernation, a process during which ribosomes are stabilized in an inactive state and preserved from proteasomal degradation. Acts via its association with EEF2/eEF2 factor at the A-site of the ribosome, promoting ribosome stabilization in an inactive state compatible with storage. Plays a key role in ribosome hibernation in the mature oocyte by promoting ribosome stabilization. Ribosomes, which are produced in large quantities during oogenesis, are stored and translationally repressed in the oocyte and early embryo. Also binds RNA, regulating transcription and pre-mRNA splicing. Binds (via C-terminus) to poly(U) RNA. Seems to play a role in PML-nuclear bodies formation. Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress.

Subunit / interactions. Associates with ribosomes; promoting ribosome stabilization. Interacts with EEF2/eEF2; promoting ribosome stabilization. Interacts with FMR1. Interacts with FXR1 and FXR2. Interacts with CHD3 (via C-terminus). Interacts (via C-terminus) with RACK1. Interacts with p53/TP53. Interacts (via N-terminus) with SRSF9; this interaction is direct. Interacts with SYNCRIP; this interaction is direct. Interacts with MEF2C (via N-terminus); this interaction decreases DNA-binding activity of MEF2C in myocardial cells in response to mechanical stress. Interacts with PRMT1 (via N-terminus). Interacts with SPIN1.

Subcellular location. Nucleus. Cytoplasm. Stress granule. Sarcoplasm. Nuclear body. Nucleolus. Nucleus speckle. Cajal body. Gem.

Tissue specificity. Highly expressed in brain, heart, and kidney, and moderately expressed in skeletal muscle. Also expressed in a variety of tumor cell lines and in activated but not resting leukocytes.

Post-translational modifications. Methylated. Methylation is decreased by phorbol 12-myristate 13-acetate (PMA)-activated PKC, in vitro. Phosphorylated by phorbol 12-myristate 13-acetate (PMA)-activated PKC isoforms at Thr-354 and Thr-375.

Domain organisation. The C-terminal region is necessary for nucleus and cytoplasmic localization. The N-terminal region is necessary for nucleus and nuclear bodies localization. Regions containing Arg-Gly-Gly repeats (RGG/RXR-box) may be preferentially methylated by PRMT1.

Miscellaneous. Able to bind hyaluronan. However, its intracellular localization suggests that this interaction may not be relevant in vivo. The interaction with RACK1 is abolished upon activation of L540 tumor cells with PMA, which results in phosphorylation and exit of HABP4 from the nucleus.

Similarity. Belongs to the SERBP1-HABP4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5JVS0-1	1	yes
Q5JVS0-2	2

RefSeq proteins (1): NP_055097* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006861	HABP4_PAIRBP1-bd	Domain
IPR032381	IHABP4_N	Domain
IPR039764	HABP4/SERBP1-like	Family

Pfam: PF04774, PF16174

UniProt features (31 total): modified residue 7, compositionally biased region 6, cross-link 6, region of interest 3, mutagenesis site 3, sequence conflict 3, chain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JVS0-F1	56.31	0.03

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): 7, 36, 70, 74, 108, 354, 375, 213, 213, 276, 276, 336, 336

Mutagenesis-validated functional residues (3):

Position	Phenotype
213	decreases sumoylation; when associated with r-336. abolishes sumoylation; when associated with r-276 and r-336.
276	decreases sumoylation; when associated with r-336. abolishes sumoylation; when associated with r-213 and r-336.
336	decreases sumoylation; when associated with r-213 or r-276. abolishes sumoylation; when associated with r-213 and r-276.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation

MSigDB gene sets: 177 (showing top): FREAC2_01, MORF_MSH3, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, MORF_BRCA1, GOBP_TRANSLATIONAL_INITIATION, MORF_RAD51L3, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN

GO Biological Process (8): mRNA processing (GO:0006397), RNA splicing (GO:0008380), PML body organization (GO:0030578), positive regulation of RNA splicing (GO:0033120), positive regulation of translational initiation (GO:0045948), cellular response to mechanical stimulus (GO:0071260), ribosome hibernation (GO:0141014), regulation of translation (GO:0006417)

GO Molecular Function (5): RNA binding (GO:0003723), SUMO binding (GO:0032183), ribosome binding (GO:0043022), translation elongation factor binding (GO:0061770), protein binding (GO:0005515)

GO Cellular Component (13): extracellular region (GO:0005576), nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), Cajal body (GO:0015030), sarcoplasm (GO:0016528), nuclear speck (GO:0016607), sarcomere (GO:0030017), nuclear membrane (GO:0031965), Gemini of Cajal bodies (GO:0097504), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA processing	2
intracellular membraneless organelle	2
cytoplasm	2
nuclear ribonucleoprotein granule	2
mRNA metabolic process	1
nuclear body organization	1
RNA splicing	1
positive regulation of gene expression	1
regulation of RNA splicing	1
translational initiation	1
regulation of translational initiation	1
positive regulation of translation	1
response to mechanical stimulus	1
cellular response to abiotic stimulus	1
cellular response to external stimulus	1
negative regulation of translation	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
nucleic acid binding	1
ubiquitin-like protein binding	1
ribonucleoprotein complex binding	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasmic ribonucleoprotein granule	1
myofibril	1
nucleus	1
nuclear envelope	1
organelle membrane	1
nuclear body	1
nucleoplasm	1

Protein interactions and networks

STRING

1637 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HABP4	CHD3	Q12873	676
HABP4	RACK1	P25388	672
HABP4	UBE2I	P50550	559
HABP4	FXR1	P51114	558
HABP4	FMR1	Q06787	551
HABP4	PIAS3	Q9Y6X2	531
HABP4	TIPARP	Q7Z3E1	530
HABP4	ARMCX2	Q7L311	511
HABP4	ZNF367	Q7RTV3	506
HABP4	DPY19L4	Q7Z388	493
HABP4	TMEM9B	Q9NQ34	472
HABP4	MEF2C	Q06413	471
HABP4	DAXX	Q9UER7	464
HABP4	CCNQ	Q8N1B3	462
HABP4	PPP1R15A	O75807	461

IntAct

67 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
CHD3	HABP4	psi-mi:“MI:0915”(physical association)	0.550
USP54	DYRK1A	psi-mi:“MI:0914”(association)	0.550
N	RBM47	psi-mi:“MI:0914”(association)	0.530
KIF2C	KIF2A	psi-mi:“MI:0914”(association)	0.530
SNRPC	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
POP7	RPP40	psi-mi:“MI:0914”(association)	0.530
AKR1C3	AKR1D1	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530
SRSF9	HABP4	psi-mi:“MI:0915”(physical association)	0.510
SYNCRIP	HABP4	psi-mi:“MI:0915”(physical association)	0.510
HABP4	SRSF9	psi-mi:“MI:0915”(physical association)	0.510
HABP4	PRMT1	psi-mi:“MI:0915”(physical association)	0.510
Mef2a	HABP4	psi-mi:“MI:0407”(direct interaction)	0.440
HABP4	FMR1	psi-mi:“MI:0915”(physical association)	0.400
HABP4	SYNCRIP	psi-mi:“MI:0915”(physical association)	0.400
CRK	HABP4	psi-mi:“MI:0915”(physical association)	0.370
HABP4	RPL38	psi-mi:“MI:0915”(physical association)	0.370
HABP4	FXR1	psi-mi:“MI:0915”(physical association)	0.370
HABP4	CIRBP	psi-mi:“MI:0915”(physical association)	0.370
HABP4	YBX1	psi-mi:“MI:0915”(physical association)	0.370
C1QBP	HABP4	psi-mi:“MI:0915”(physical association)	0.370
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350

BioGRID (186): HABP4 (Co-fractionation), HABP4 (Co-fractionation), GNB2L1 (Two-hybrid), HABP4 (Two-hybrid), HABP4 (Two-hybrid), GNB2L1 (Reconstituted Complex), HABP4 (Biochemical Activity), HABP4 (Biochemical Activity), MRPS10 (Affinity Capture-MS), MRPS15 (Affinity Capture-MS), MRPS25 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPL1 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PK71, A0A385XIL0, A1L1K8, A5DI69, A6RVU0, A6ZPB3, A7TQ21, A8XXB0, G0S636, G0S8I1, G1SW77, J9VI89, O13802, O14369, O16053, O23593, O42914, P15891, P25441, P36049, P39015, P39935, P39936, P42846, P45978, P87128, Q05775, Q09252, Q54JD4, Q5ACM9, Q5AQ12, Q5JVS0, Q5XJA5, Q6AXS5, Q6BJ82, Q6C7G8, Q6CMJ8, Q6CQI2, Q6CWY0, Q6FY89

Diamond homologs: A1L1K8, A6NCW0, A6NCW7, A8MUK1, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D6R901, D6R9N7, D6RA61, D6RBQ6, D6RCP7, D6RJB6, G1SW77, P0C7H9, P0C7I0, Q0WX57, Q5JVS0, Q5XJA5, Q6AXS5, Q6NRY1, Q6PB22, Q6R6M4, Q7RTZ2, Q8NC51, Q9CY58, Q9I9R0, Q9JKS5, B1AQJ2, B2RQC2, B3M3M6, B3NC86, B4HUI5, B4IXE0, B4KXJ5, B4LG38, B4MLR8, B4PIW8

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
PRKCA	“down-regulates activity”	HABP4	phosphorylation
PRKCB	“down-regulates activity”	HABP4	phosphorylation
PRKCD	“down-regulates activity”	HABP4	phosphorylation
PRKCG	“down-regulates activity”	HABP4	phosphorylation
PRKCQ	“down-regulates activity”	HABP4	phosphorylation
PRKCZ	“down-regulates activity”	HABP4	phosphorylation
HABP4	“down-regulates activity”	MEF2C	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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.

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	7	25.9×	3e-06
positive regulation of translation	5	17.2×	1e-03
negative regulation of translation	5	14.8×	2e-03
RNA splicing	10	13.4×	2e-06
mRNA processing	8	9.6×	3e-04
chromatin remodeling	7	7.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1988 predictions. Top by Δscore:

Variant	Effect	Δscore
9:96458537:GAAAA:G	donor_gain	1.0000
9:96458542:G:GG	donor_gain	1.0000
9:96465335:A:AG	acceptor_gain	1.0000
9:96465336:G:GG	acceptor_gain	1.0000
9:96465336:GACCA:G	acceptor_gain	1.0000
9:96465497:AT:A	donor_gain	1.0000
9:96465499:G:GG	donor_gain	1.0000
9:96465708:A:AG	acceptor_gain	1.0000
9:96465709:G:GG	acceptor_gain	1.0000
9:96465709:GA:G	acceptor_gain	1.0000
9:96465709:GAGCA:G	acceptor_gain	1.0000
9:96471090:GCCAA:G	donor_gain	1.0000
9:96471095:G:GG	donor_gain	1.0000
9:96484451:T:G	acceptor_gain	1.0000
9:96484457:TATA:T	acceptor_loss	1.0000
9:96484458:ATAG:A	acceptor_loss	1.0000
9:96484459:T:G	acceptor_gain	1.0000
9:96484459:TAGA:T	acceptor_loss	1.0000
9:96484460:A:AG	acceptor_gain	1.0000
9:96484460:AG:A	acceptor_loss	1.0000
9:96484461:G:GT	acceptor_gain	1.0000
9:96484461:GA:G	acceptor_gain	1.0000
9:96484461:GAGT:G	acceptor_gain	1.0000
9:96484461:GAGTT:G	acceptor_gain	1.0000
9:96484607:A:AG	donor_gain	1.0000
9:96484630:TGAT:T	donor_gain	1.0000
9:96484631:GAT:G	donor_gain	1.0000
9:96484631:GATG:G	donor_gain	1.0000
9:96484634:G:A	donor_loss	1.0000
9:96484634:G:GG	donor_gain	1.0000

AlphaMissense

2687 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:96450361:T:C	F28L	0.999
9:96450363:C:A	F28L	0.999
9:96450363:C:G	F28L	0.999
9:96450392:C:A	P38Q	0.999
9:96484520:T:A	W296R	0.999
9:96484520:T:C	W296R	0.999
9:96484522:G:C	W296C	0.999
9:96484522:G:T	W296C	0.999
9:96490021:T:C	F409L	0.999
9:96490023:C:A	F409L	0.999
9:96490023:C:G	F409L	0.999
9:96450358:C:A	R27S	0.998
9:96484521:G:C	W296S	0.998
9:96484560:T:C	F309S	0.998
9:96484569:G:C	R312P	0.998
9:96484608:T:G	I325S	0.998
9:96488170:T:C	F361L	0.998
9:96488172:T:A	F361L	0.998
9:96488172:T:G	F361L	0.998
9:96490022:T:C	F409S	0.998
9:96450343:T:C	C22R	0.997
9:96450357:C:A	N26K	0.997
9:96450357:C:G	N26K	0.997
9:96450362:T:C	F28S	0.997
9:96484530:T:C	L299P	0.997
9:96484608:T:A	I325N	0.997
9:96488165:T:C	I359T	0.997
9:96490022:T:G	F409C	0.997
9:96450389:A:G	D37G	0.996
9:96450412:G:C	A45P	0.996

dbSNP variants (sampled 300 via entrez): RS1000106559 (9:96491192 C>T), RS1000153283 (9:96448291 G>T), RS1000185001 (9:96468632 A>G), RS1000205945 (9:96457822 T>A), RS1000329713 (9:96461641 C>G,T), RS1000439747 (9:96485115 C>T), RS1000504392 (9:96453862 C>A,T), RS1000640125 (9:96453553 T>A), RS1000720504 (9:96455316 G>A,C), RS1000770989 (9:96474723 G>A), RS1000814187 (9:96480140 AC>A), RS1000905716 (9:96466215 C>G), RS1001160314 (9:96449499 C>A), RS1001165290 (9:96475406 A>G), RS1001317959 (9:96455988 G>A,T)

Disease associations

OMIM: gene MIM:617369 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002647_31	Height	4.000000e-33
GCST008839_304	Height	4.000000e-14
GCST009524_244	Household income (MTAG)	1.000000e-11
GCST012226_96	Waist circumference adjusted for body mass index	2.000000e-08
GCST012227_441	Hip circumference adjusted for BMI	5.000000e-10
GCST90000025_412	Appendicular lean mass	5.000000e-59
GCST90020028_388	Hip circumference adjusted for BMI	9.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009695	household income
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects expression	5
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
methylselenic acid	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
cupric chloride	increases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	increases expression	1
Lead	affects methylation	1
Mercury	increases expression	1
Methotrexate	increases expression	1
Phenobarbital	affects expression	1
Phthalic Acids	increases expression	1
Ribonucleotides	affects binding	1
Tobacco Smoke Pollution	increases expression	1
Antirheumatic Agents	increases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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