FAM234B

Summary

FAM234B (family with sequence similarity 234 member B, HGNC:29288) is a protein-coding gene on chromosome 12p13.1, encoding Protein FAM234B (A2RU67).

Predicted to be located in Golgi apparatus; membrane; and microtubule organizing center.

Source: NCBI Gene 57613 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_020853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29288
Approved symbol	FAM234B
Name	family with sequence similarity 234 member B
Location	12p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000084444
Ensembl biotype	protein_coding
OMIM	617838
Entrez	57613

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000197268, ENST00000416494, ENST00000535974, ENST00000537625, ENST00000540455, ENST00000541950, ENST00000893327

RefSeq mRNA: 1 — MANE Select: NM_020853 NM_020853

CCDS: CCDS31750

Canonical transcript exons

ENST00000197268 — 13 exons

Exon	Start	End
ENSE00000721952	13066640	13066787
ENSE00000721953	13067155	13067296
ENSE00001121959	13079789	13080009
ENSE00001410227	13080625	13083449
ENSE00001420320	13044381	13044440
ENSE00001636472	13058451	13058549
ENSE00001642743	13055551	13055946
ENSE00001730836	13061575	13061763
ENSE00001762638	13062845	13062975
ENSE00003466050	13071241	13071396
ENSE00003530078	13068630	13068711
ENSE00003534029	13076026	13076143
ENSE00003607127	13068304	13068447

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 96.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9345 / max 196.0223, expressed in 1658 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124401	7.8328	1658
124399	2.9253	1314
124400	0.1017	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	96.26	gold quality
CA1 field of hippocampus	UBERON:0003881	94.27	gold quality
olfactory bulb	UBERON:0002264	94.15	gold quality
substantia nigra pars compacta	UBERON:0001965	94.10	gold quality
type B pancreatic cell	CL:0000169	94.07	gold quality
orbitofrontal cortex	UBERON:0004167	93.29	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.00	gold quality
parietal lobe	UBERON:0001872	92.79	gold quality
middle temporal gyrus	UBERON:0002771	92.55	gold quality
postcentral gyrus	UBERON:0002581	92.53	gold quality
superior frontal gyrus	UBERON:0002661	92.41	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.84	gold quality
lateral globus pallidus	UBERON:0002476	91.72	gold quality
ventral tegmental area	UBERON:0002691	90.64	gold quality
prefrontal cortex	UBERON:0000451	90.61	gold quality
pons	UBERON:0000988	90.43	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.39	gold quality
superior vestibular nucleus	UBERON:0007227	90.19	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	90.08	gold quality
hair follicle	UBERON:0002073	89.89	gold quality
cortical plate	UBERON:0005343	89.80	gold quality
entorhinal cortex	UBERON:0002728	89.79	gold quality
occipital lobe	UBERON:0002021	89.70	gold quality
frontal cortex	UBERON:0001870	89.61	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.38	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.21	gold quality
medulla oblongata	UBERON:0001896	88.97	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.90	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.66	gold quality
neocortex	UBERON:0001950	88.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.22
E-GEOD-124858	no	160.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting FAM234B, 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-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4728-5P	99.85	69.39	4718

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam234b	ENSDARG00000006758
mus_musculus	Fam234b	ENSMUSG00000030207
rattus_norvegicus	Fam234b	ENSRNOG00000008443
drosophila_melanogaster	CG3618	FBGN0037028
drosophila_melanogaster	CG6184	FBGN0038725

Paralogs (1): FAM234A (ENSG00000167930)

Protein

Protein identifiers

Protein FAM234B — A2RU67 (reviewed: A2RU67)

All UniProt accessions (2): A2RU67, Q69YM1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane. Golgi outpost. Cytoplasm. Cytoskeleton. Microtubule organizing center.

Similarity. Belongs to the FAM234 family.

RefSeq proteins (1): NP_065904* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR045232	FAM234	Family
IPR055409	Beta-prop_FAM234A_B	Domain

Pfam: PF23727

UniProt features (12 total): modified residue 5, sequence conflict 4, chain 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2RU67-F1	78.27	0.46

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 (5): 16, 26, 30, 33, 62

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): BROWNE_HCMV_INFECTION_16HR_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, SMID_BREAST_CANCER_LUMINAL_B_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, MODULE_48, MODULE_95, NUYTTEN_EZH2_TARGETS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, LU_EZH2_TARGETS_DN, CHYLA_CBFA2T3_TARGETS_DN, BILANGES_SERUM_SENSITIVE_VIA_TSC2, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_7, KRIEG_HYPOXIA_NOT_VIA_KDM3A

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): microtubule organizing center (GO:0005815), membrane (GO:0016020), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
microtubule cytoskeleton	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM234B	LURAP1	Q96LR2	497
FAM234B	TM9SF2	Q99805	494
FAM234B	LRRIQ3	A6PVS8	479
FAM234B	AMZ2	Q86W34	447
FAM234B	MANSC1	Q9H8J5	447
FAM234B	C12orf60	Q5U649	435
FAM234B	GLG1	Q92896	433
FAM234B	CREBL2	O60519	406
FAM234B	MBOAT2	Q6ZWT7	395
FAM234B	OR4C11	Q6IEV9	393
FAM234B	ZNF552	Q9H707	393
FAM234B	HID1	Q8IV36	390
FAM234B	NKAIN3	Q8N8D7	385
FAM234B	PRELID2	Q8N945	385
FAM234B	MYO18A	Q92614	383

IntAct

40 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
ABCD4	FAM234B	psi-mi:“MI:0915”(physical association)	0.620
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
XKRX	FAM234B	psi-mi:“MI:0914”(association)	0.530
FRMD5	FAM234B	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
STX12	FAM234B	psi-mi:“MI:0914”(association)	0.530
SEC22B	NBAS	psi-mi:“MI:0914”(association)	0.350
STX12	NBAS	psi-mi:“MI:0914”(association)	0.350
FRMD3	FAM234B	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
BET1	NBAS	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	FAM234B	psi-mi:“MI:0914”(association)	0.350
CSGALNACT1	FAM234B	psi-mi:“MI:0914”(association)	0.350
GINM1	FAM234B	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
ZACN	FAM234B	psi-mi:“MI:0914”(association)	0.350

BioGRID (120): KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), DEPDC1 (Affinity Capture-MS), ABCD4 (Affinity Capture-MS), FRMD5 (Affinity Capture-MS), SLC25A51 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KQY6, A0A6I8PMZ8, A0JPN2, A2RU67, A4IGY6, A5D7L5, D3ZWJ9, L5KLU7, O08644, O08721, O08722, O15197, P0C0K7, P0DX17, Q08E40, Q15043, Q1KZG0, Q4V887, Q504Y0, Q58Y75, Q5FVQ0, Q5FWH7, Q5M936, Q5RAB7, Q640M6, Q642A7, Q6L8F3, Q6P5W5, Q6PEH9, Q6ZN44, Q75N73, Q76MJ5, Q78IQ7, Q7TNJ2, Q8BYI8, Q8C0Z1, Q8IZJ1, Q8IZY2, Q8K1S4, Q8WTR4

Diamond homologs: A2RU67, D3ZWJ9, Q5F3L3, Q8BYI8, Q2HJE5, Q8C0Z1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	13
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

2538 predictions. Top by Δscore:

Variant	Effect	Δscore
12:13044436:GCCGG:G	donor_gain	1.0000
12:13044437:CCGGG:C	donor_loss	1.0000
12:13044438:CGGG:C	donor_loss	1.0000
12:13044439:GG:G	donor_gain	1.0000
12:13044439:GGGT:G	donor_loss	1.0000
12:13044440:GG:G	donor_gain	1.0000
12:13044440:GGTA:G	donor_loss	1.0000
12:13044441:G:T	donor_loss	1.0000
12:13044442:T:A	donor_loss	1.0000
12:13055549:A:AG	acceptor_gain	1.0000
12:13055549:AG:A	acceptor_gain	1.0000
12:13055550:G:GG	acceptor_gain	1.0000
12:13055550:GG:G	acceptor_gain	1.0000
12:13055942:GGGAG:G	donor_gain	1.0000
12:13055943:GGAGG:G	donor_gain	1.0000
12:13055944:G:T	donor_gain	1.0000
12:13058546:GTAG:G	donor_gain	1.0000
12:13061571:TTA:T	acceptor_loss	1.0000
12:13061572:TAG:T	acceptor_loss	1.0000
12:13062885:C:CA	acceptor_gain	1.0000
12:13062974:AGGTA:A	donor_loss	1.0000
12:13062976:G:T	donor_loss	1.0000
12:13062977:T:G	donor_loss	1.0000
12:13066638:A:AG	acceptor_gain	1.0000
12:13066639:G:GG	acceptor_gain	1.0000
12:13066639:GCC:G	acceptor_gain	1.0000
12:13066639:GCCA:G	acceptor_gain	1.0000
12:13066788:G:GG	donor_gain	1.0000
12:13066789:T:G	donor_loss	1.0000
12:13068302:A:AG	acceptor_gain	1.0000

AlphaMissense

3997 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:13055577:T:C	Y22H	0.997
12:13044423:G:T	R7M	0.996
12:13044429:T:A	L9H	0.996
12:13055578:A:G	Y22C	0.994
12:13055601:A:C	S30R	0.994
12:13055603:T:A	S30R	0.994
12:13055603:T:G	S30R	0.994
12:13055921:G:C	W136C	0.994
12:13055921:G:T	W136C	0.994
12:13067247:T:A	W365R	0.994
12:13067247:T:C	W365R	0.994
12:13044424:G:C	R7S	0.992
12:13044424:G:T	R7S	0.992
12:13076072:T:C	L524P	0.992
12:13044423:G:C	R7T	0.991
12:13067249:G:C	W365C	0.991
12:13067249:G:T	W365C	0.991
12:13079825:T:A	V560D	0.990
12:13044429:T:C	L9P	0.989
12:13055874:T:C	C121R	0.989
12:13055919:T:A	W136R	0.988
12:13055919:T:C	W136R	0.988
12:13067166:G:C	A338P	0.988
12:13079989:T:C	F615L	0.988
12:13079991:T:A	F615L	0.988
12:13079991:T:G	F615L	0.988
12:13044408:C:T	A2V	0.987
12:13079990:T:C	F615S	0.987
12:13055880:T:C	F123L	0.986
12:13055882:C:A	F123L	0.986

dbSNP variants (sampled 300 via entrez): RS1000009124 (12:13065443 C>T), RS1000047894 (12:13079314 T>A,C), RS1000113649 (12:13072468 A>C,T), RS1000235216 (12:13072139 G>C), RS1000316852 (12:13070902 C>A,T), RS1000341065 (12:13047690 T>G), RS1000440455 (12:13064532 C>A,T), RS1000474250 (12:13081328 C>G), RS1000582572 (12:13072820 C>T), RS1000617765 (12:13077335 A>G), RS1000649186 (12:13071162 C>T), RS1000797126 (12:13048018 GA>G,GAA), RS1000810102 (12:13065857 A>G), RS1000842331 (12:13059193 G>A,T), RS1000855025 (12:13052808 T>C)

Disease associations

OMIM: gene MIM:617838 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST012490_253	Femur bone mineral density x serum urate levels interaction	9.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
bisphenol A	increases expression	2
Nickel	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
coumarin	affects phosphorylation	1
abrine	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants, Occupational	affects expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Cyclophosphamide	affects cotreatment, affects response to substance	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylstilbestrol	increases expression	1
Doxorubicin	affects cotreatment, affects response to substance	1
Estradiol	decreases expression	1
Fluorouracil	affects cotreatment, affects response to substance	1
Folic Acid	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Quercetin	increases phosphorylation	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

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