RAB11FIP5

Summary

RAB11FIP5 (RAB11 family interacting protein 5, HGNC:24845) is a protein-coding gene on chromosome 2p13.2, encoding Rab11 family-interacting protein 5 (Q9BXF6). Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane.

Enables gamma-tubulin binding activity. Involved in cellular response to acidic pH; negative regulation of adiponectin secretion; and regulation of protein localization to cell surface. Located in several cellular components, including microtubule organizing center; mitochondrial outer membrane; and nuclear speck.

Source: NCBI Gene 26056 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 152 total
• MANE Select transcript: NM_001371272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24845
Approved symbol	RAB11FIP5
Name	RAB11 family interacting protein 5
Location	2p13.2
Locus type	gene with protein product
Status	Approved
Aliases	GAF1, KIAA0857, RIP11, pp75
Ensembl gene	ENSG00000135631
Ensembl biotype	protein_coding
OMIM	605536
Entrez	26056

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000258098, ENST00000475951, ENST00000479196, ENST00000482554, ENST00000486777, ENST00000493523, ENST00000878640, ENST00000878641, ENST00000878642

RefSeq mRNA: 2 — MANE Select: NM_001371272 NM_001371272, NM_015470

CCDS: CCDS1923, CCDS92776

Canonical transcript exons

ENST00000486777 — 6 exons

Exon	Start	End
ENSE00000920776	73088879	73089315
ENSE00001946575	73079651	73081663
ENSE00003495572	73088050	73088749
ENSE00003495708	73073382	73075724
ENSE00003676189	73075993	73076182
ENSE00003796283	73112347	73112948

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 98.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7151 / max 109.1626, expressed in 1562 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29123	5.9096	1485
29122	2.1009	980
29125	1.0368	750
29120	0.2801	156
29124	0.2091	89
29121	0.0955	39
29114	0.0362	7
29115	0.0360	3
29119	0.0109	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.64	gold quality
male germ cell	CL:0000015	98.06	gold quality
left testis	UBERON:0004533	97.11	gold quality
right testis	UBERON:0004534	97.02	gold quality
renal medulla	UBERON:0000362	95.06	gold quality
testis	UBERON:0000473	94.67	gold quality
pons	UBERON:0000988	94.63	gold quality
dorsal root ganglion	UBERON:0000044	93.38	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.37	gold quality
adult mammalian kidney	UBERON:0000082	93.19	gold quality
adult organism	UBERON:0007023	93.14	gold quality
cartilage tissue	UBERON:0002418	92.83	gold quality
parotid gland	UBERON:0001831	92.76	gold quality
islet of Langerhans	UBERON:0000006	92.27	gold quality
right frontal lobe	UBERON:0002810	92.11	gold quality
spleen	UBERON:0002106	92.05	gold quality
frontal pole	UBERON:0002795	91.81	gold quality
superior vestibular nucleus	UBERON:0007227	91.65	gold quality
ascending aorta	UBERON:0001496	91.33	gold quality
thoracic aorta	UBERON:0001515	91.26	gold quality
trigeminal ganglion	UBERON:0001675	91.21	gold quality
metanephros cortex	UBERON:0010533	91.13	gold quality
saphenous vein	UBERON:0007318	90.54	gold quality
descending thoracic aorta	UBERON:0002345	90.46	gold quality
cerebellar vermis	UBERON:0004720	90.36	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	90.31	gold quality
medulla oblongata	UBERON:0001896	90.09	gold quality
paraflocculus	UBERON:0005351	90.02	gold quality
cingulate cortex	UBERON:0003027	90.01	gold quality
Brodmann (1909) area 10	UBERON:0013541	89.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

127 targeting RAB11FIP5, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606

Literature-anchored findings (GeneRIF, showing 10)

• These data therefore show that (i) Rab11a regulates cell surface abundance of both GLUT4 and FAT/CD36. (PMID:17854769)
• analysis of the rearrangement breakpoints suggests that the reciprocal translocation may have formed secondary to incorrect repair of double strand breaks (DSBs) by nonhomologous end-joining (NHEJ). (PMID:18384058)
• Rip11/FIP5-kinesin-II complex plays a key role in the routing of internalized receptors through the perinuclear recycling endosomes. (PMID:18957512)
• These data introduce Rab11b as a crucial regulator and Rip11 as mediator of acidosis-induced V-ATPase traffic in duct cells of submandibular gland. (PMID:20717956)
• FIP5-SNX18 complex plays a pivotal role in the polarized transport of apical proteins during apical lumen initiation in epithelial cells. (PMID:21969467)
• FIP5-T276 phosphorylation occurs specifically during metaphase and anaphase. (PMID:24591568)
• The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39. (PMID:31988382)
• RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures. (PMID:33172842)
• Host RAB11FIP5 protein inhibits the release of Kaposi’s sarcoma-associated herpesvirus particles by promoting lysosomal degradation of ORF45. (PMID:33315947)
• Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination. (PMID:34638806)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab11fip5b	ENSDARG00000101188
danio_rerio	rab11fip5a	ENSDARG00000104179
mus_musculus	Rab11fip5	ENSMUSG00000051343
rattus_norvegicus	Rab11fip5	ENSRNOG00000056009
drosophila_melanogaster	Rip11	FBGN0027335
caenorhabditis_elegans		WBGENE00021456

Paralogs (2): RAB11FIP2 (ENSG00000107560), RAB11FIP1 (ENSG00000156675)

Protein

Protein identifiers

Rab11 family-interacting protein 5 — Q9BXF6 (reviewed: Q9BXF6)

Alternative names: Gamma-SNAP-associated factor 1, Phosphoprotein pp75, Rab11-interacting protein Rip11

All UniProt accessions (2): A0A1B0GTL5, Q9BXF6

UniProt curated annotations — full annotation on UniProt →

Function. Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis.

Subunit / interactions. Interacts with RAB11FIP4. Interacts with NAPG. Interacts with RO60. Interacts with RAB11A that has been activated by GTP binding. (Microbial infection) Interacts with Kaposi’s sarcoma-associated herpesvirus/HHV-8 protein ORF45; this interaction results in the lysosomal degradation of ORF45 and the inhibition of viral particle release.

Subcellular location. Cytoplasm. Recycling endosome membrane. Early endosome membrane. Golgi apparatus membrane. Cytoplasmic vesicle. Secretory vesicle membrane. Mitochondrion membrane.

Tissue specificity. Detected at low levels in heart, brain, placenta, lung, liver, adipocytes, kidney, spleen, skeletal muscle and pancreas.

Post-translational modifications. Phosphorylated on serine and threonine residues. Phosphorylation at Ser-357 is PKA-dependent.

Domain organisation. Binds to vesicles enriched in neutral phospholipids via its C2 domain. The interaction is favored by Mg(2+) rather than Ca(2+).

Miscellaneous. Antibodies against RIP11 are found in sera from patients with autoimmune diseases such as systemic lupus erythematosus (SLE) or Sjoegren syndrome (SS). It is also found in the sera from mothers of children with neonatal lupus erythematosus (NLE).

RefSeq proteins (2): NP_001358201, NP_056285 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR019018	Rab-bd_FIP-RBD	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037245	FIP-RBD_C_sf	Homologous_superfamily
IPR037789	FIP_classI	Family

Pfam: PF00168, PF09457

UniProt features (26 total): modified residue 12, compositionally biased region 5, sequence conflict 3, region of interest 3, domain 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXF6-F1	58.84	0.21

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 (12): 176, 283, 286, 307, 357, 367, 391, 395, 494, 538, 547, 553

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 223 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, RNGTGGGC_UNKNOWN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOCC_SECRETORY_GRANULE, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION

GO Biological Process (6): insulin secretion involved in cellular response to glucose stimulus (GO:0035773), regulated exocytosis (GO:0045055), negative regulation of adiponectin secretion (GO:0070164), cellular response to acidic pH (GO:0071468), regulation of protein localization to cell surface (GO:2000008), protein transport (GO:0015031)

GO Molecular Function (3): small GTPase binding (GO:0031267), gamma-tubulin binding (GO:0043015), protein binding (GO:0005515)

GO Cellular Component (25): Golgi membrane (GO:0000139), acrosomal vesicle (GO:0001669), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), early endosome (GO:0005769), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cilium (GO:0005929), nuclear speck (GO:0016607), secretory granule (GO:0030141), transport vesicle membrane (GO:0030658), early endosome membrane (GO:0031901), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), phagocytic vesicle (GO:0045335), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), sperm annulus (GO:0097227), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), mitochondrial membrane (GO:0031966)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
sperm flagellum	3
bounding membrane of organelle	2
cytoplasm	2
intracellular membrane-bounded organelle	2
endosome	2
endomembrane system	2
endosome membrane	2
insulin secretion	1
establishment of localization in cell	1
cellular response to glucose stimulus	1
exocytosis	1
negative regulation of hormone secretion	1
negative regulation of protein secretion	1
negative regulation of multicellular organismal process	1
adiponectin secretion	1
regulation of adiponectin secretion	1
response to acidic pH	1
cellular response to pH	1
regulation of protein localization	1
protein localization to cell surface	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
GTPase binding	1
tubulin binding	1
binding	1
Golgi apparatus	1
secretory granule	1
mitochondrial membrane	1
organelle outer membrane	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
nuclear ribonucleoprotein granule	1
secretory vesicle	1
transport vesicle	1
cytoplasmic vesicle membrane	1

Protein interactions and networks

STRING

990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB11FIP5	RAB11A	P24410	985
RAB11FIP5	RAB11FIP3	O75154	931
RAB11FIP5	RAB25	P57735	917
RAB11FIP5	MYO5B	Q9ULV0	900
RAB11FIP5	RAB11FIP4	Q86YS3	880
RAB11FIP5	RAB4A	P20338	712
RAB11FIP5	VIPAS39	Q9H9C1	694
RAB11FIP5	KIF3A	Q9Y496	688
RAB11FIP5	KIF3B	O15066	653
RAB11FIP5	VPS45	Q9NRW7	653
RAB11FIP5	RBSN	Q9H1K0	581
RAB11FIP5	EXOC7	Q9UPT5	577
RAB11FIP5	TFRC	P02786	534
RAB11FIP5	TBC1D4	O60343	526
RAB11FIP5	ARF6	P26438	521

IntAct

121 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
RAB11A	RAB11FIP5	psi-mi:“MI:0915”(physical association)	0.840
RAB11A	EVI5	psi-mi:“MI:0914”(association)	0.800
PPP2R2D	YEATS4	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
SNX18	RAB11FIP5	psi-mi:“MI:0915”(physical association)	0.540
RAB11FIP5	SNX18	psi-mi:“MI:0915”(physical association)	0.540
SNX18	RAB11FIP5	psi-mi:“MI:0407”(direct interaction)	0.540
RAB11A	SH3BP5	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
HDGFL2	CDC7	psi-mi:“MI:0914”(association)	0.530
PPP2R1A	ENSA	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
ARHGAP26	ARHGAP10	psi-mi:“MI:0914”(association)	0.510
GSK3B	RAB11FIP5	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
RAB11FIP5	HMGN1	psi-mi:“MI:0915”(physical association)	0.400
RAB11FIP5	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (244): RAB11FIP5 (Reconstituted Complex), RAB11FIP5 (Two-hybrid), NAPG (Affinity Capture-Western), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), ECHS1 (Co-fractionation), RAB11FIP5 (Proximity Label-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Affinity Capture-MS), RAB11FIP5 (Proximity Label-MS), RAB11FIP5 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3QA39, A2A6T1, A2A9T0, A2AHG0, A5PKL7, A6NKD9, A7MCY6, B4F7F3, D3ZD05, E9Q6B2, F1MRK3, G3V735, O00192, O60299, O75069, O75145, P60469, P98203, Q08DQ0, Q0P485, Q0V989, Q1LZH7, Q2HJJ0, Q2TBQ9, Q3LUD4, Q4ACU6, Q4V872, Q5R8E2, Q5SP85, Q63ZY3, Q6DHL7, Q6NZT2, Q6P597, Q80W04, Q86X02, Q8BX02, Q8K1Q4, Q8K371, Q8R361, Q8VHK2

Diamond homologs: C9J798, G3XA57, O43374, O95294, P41823, Q3B7T9, Q6DN14, Q6PFQ7, Q6WKZ4, Q7L804, Q8R361, Q9BXF6, Q9D620, Q9SKA3, Q9ZVT9, Q4KUS2, Q62768, Q62769, Q62770, Q8K0T7, Q8NB66, Q9UPW8, Q9Z1N9, O35681, P41885

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
STK38	“up-regulates activity”	RAB11FIP5	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 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
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	60.3×	6e-09
Activation of BAD and translocation to mitochondria	6	58.6×	9e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	51.7×	2e-07
Activation of BH3-only proteins	6	38.2×	1e-06
RHO GTPases activate PKNs	6	24.4×	1e-05
Intrinsic Pathway for Apoptosis	6	22.5×	2e-05
FOXO-mediated transcription	5	21.5×	9e-05
TBC/RABGAPs	5	16.6×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	7	26.8×	7e-06
protein targeting	5	16.6×	2e-03
protein autophosphorylation	9	11.9×	3e-05
positive regulation of neuron projection development	7	8.7×	3e-03
protein transport	12	4.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	23
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

865 predictions. Top by Δscore:

Variant	Effect	Δscore
2:73075721:AGTC:A	acceptor_gain	1.0000
2:73075723:TC:T	acceptor_gain	1.0000
2:73075724:CC:C	acceptor_gain	1.0000
2:73075724:CCTG:C	acceptor_loss	1.0000
2:73075725:C:CC	acceptor_gain	1.0000
2:73075732:C:CT	acceptor_gain	1.0000
2:73075732:C:T	acceptor_gain	1.0000
2:73075733:G:T	acceptor_gain	1.0000
2:73075987:CCTTA:C	donor_loss	1.0000
2:73075988:CTTA:C	donor_loss	1.0000
2:73075989:TTA:T	donor_loss	1.0000
2:73075991:A:AC	donor_gain	1.0000
2:73075992:C:CC	donor_gain	1.0000
2:73075992:C:CG	donor_loss	1.0000
2:73075992:CCTT:C	donor_gain	1.0000
2:73076178:GGGGA:G	acceptor_gain	1.0000
2:73076179:GGGA:G	acceptor_gain	1.0000
2:73076180:GGA:G	acceptor_gain	1.0000
2:73076181:GA:G	acceptor_gain	1.0000
2:73076182:AC:A	acceptor_loss	1.0000
2:73076183:C:CC	acceptor_gain	1.0000
2:73076183:CTGCA:C	acceptor_loss	1.0000
2:73076184:T:G	acceptor_loss	1.0000
2:73076193:A:C	acceptor_gain	1.0000
2:73088877:AC:A	donor_gain	1.0000
2:73088877:ACCC:A	donor_gain	1.0000
2:73088878:CC:C	donor_gain	1.0000
2:73088878:CCCC:C	donor_gain	1.0000
2:73088880:C:CA	donor_gain	1.0000
2:73089312:CCAC:C	acceptor_gain	1.0000

AlphaMissense

8478 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:73112571:C:A	W69C	1.000
2:73112571:C:G	W69C	1.000
2:73112573:A:G	W69R	1.000
2:73112573:A:T	W69R	1.000
2:73075582:A:G	L634P	0.999
2:73075585:A:G	L633P	0.999
2:73089244:A:G	F168S	0.999
2:73089268:C:A	G160V	0.999
2:73089272:G:T	R159S	0.999
2:73112404:C:A	G125V	0.999
2:73112404:C:T	G125D	0.999
2:73112405:C:G	G125R	0.999
2:73112416:T:A	D121V	0.999
2:73112572:C:G	W69S	0.999
2:73112645:A:C	Y45D	0.999
2:73112716:A:T	V21D	0.999
2:73075606:A:G	L626P	0.998
2:73075669:A:G	L605P	0.998
2:73089262:A:T	I162N	0.998
2:73089268:C:T	G160D	0.998
2:73089269:C:G	G160R	0.998
2:73112409:G:C	F123L	0.998
2:73112409:G:T	F123L	0.998
2:73112411:A:G	F123L	0.998
2:73112417:C:G	D121H	0.998
2:73112434:C:G	R115P	0.998
2:73112554:A:G	F75S	0.998
2:73089250:A:T	I166N	0.997
2:73089256:A:T	V164D	0.997
2:73089304:A:G	L148P	0.997

dbSNP variants (sampled 300 via entrez): RS1000033439 (2:73076475 T>C), RS1000068501 (2:73094244 G>T), RS1000137421 (2:73099576 G>T), RS1000149111 (2:73107490 G>A,C), RS1000208438 (2:73099879 T>C), RS1000265467 (2:73107199 G>T), RS1000389763 (2:73112199 T>G), RS1000414812 (2:73100886 C>T), RS1000627100 (2:73087368 C>T), RS1000640950 (2:73106382 T>C,G), RS1000669074 (2:73113425 G>C), RS1000669415 (2:73092911 C>A), RS1000840077 (2:73075341 G>A), RS1001037689 (2:73075025 C>G,T), RS1001052735 (2:73076794 C>T)

Disease associations

OMIM: gene MIM:605536 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST006129_1	Pediatric areal bone mineral density (spine vs radius & hip discordant skeletal phenotype)	5.000000e-09
GCST006129_2	Pediatric areal bone mineral density (spine vs radius & hip discordant skeletal phenotype)	5.000000e-09
GCST007478_3	Non-word reading	2.000000e-06
GCST008059_156	Estimated glomerular filtration rate	4.000000e-11
GCST008595_53	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	3.000000e-08
GCST009735_27	Urinary metabolite modules (eigenmetabolites) in chronic kidney disease	2.000000e-10
GCST009735_28	Urinary metabolite modules (eigenmetabolites) in chronic kidney disease	2.000000e-12
GCST009735_29	Urinary metabolite modules (eigenmetabolites) in chronic kidney disease	5.000000e-18

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005299	non-word reading
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0005116	urinary metabolite measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
cobaltous chloride	increases expression	2
Leflunomide	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Smoke	decreases expression, increases abundance	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
beauvericin	affects cotreatment, decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
enniatins	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Caffeine	decreases phosphorylation	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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