FAM229B

Summary

FAM229B (family with sequence similarity 229 member B, HGNC:33858) is a protein-coding gene on chromosome 6q21, encoding Protein FAM229B (Q4G0N7).

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_001033564

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33858
Approved symbol	FAM229B
Name	family with sequence similarity 229 member B
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586F0922, LOC619208
Ensembl gene	ENSG00000203778
Ensembl biotype	protein_coding
Entrez	619208

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

ENST00000368656, ENST00000604268, ENST00000856566, ENST00000856567, ENST00000856568, ENST00000932580, ENST00000932581, ENST00000932582, ENST00000953343, ENST00000953344, ENST00000953345

RefSeq mRNA: 1 — MANE Select: NM_001033564 NM_001033564

CCDS: CCDS34513

Canonical transcript exons

ENST00000368656 — 4 exons

Exon	Start	End
ENSE00001447685	112100670	112102790
ENSE00001447686	112099270	112099408
ENSE00001447687	112097041	112097201
ENSE00001916960	112087591	112087720

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 99.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.0524 / max 609.4158, expressed in 1638 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69319	24.0524	1638

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	99.57	gold quality
right testis	UBERON:0004534	99.38	gold quality
adult organism	UBERON:0007023	98.44	gold quality
testis	UBERON:0000473	97.94	gold quality
bronchial epithelial cell	CL:0002328	97.47	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.86	gold quality
sperm	CL:0000019	96.69	gold quality
bronchus	UBERON:0002185	96.58	gold quality
right uterine tube	UBERON:0001302	96.56	gold quality
spinal cord	UBERON:0002240	95.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.52	gold quality
hypothalamus	UBERON:0001898	95.28	gold quality
prefrontal cortex	UBERON:0000451	95.07	gold quality
substantia nigra	UBERON:0002038	95.01	gold quality
adenohypophysis	UBERON:0002196	94.95	gold quality
pituitary gland	UBERON:0000007	94.86	gold quality
nucleus accumbens	UBERON:0001882	94.76	gold quality
right atrium auricular region	UBERON:0006631	94.72	gold quality
apex of heart	UBERON:0002098	94.65	gold quality
left ventricle myocardium	UBERON:0006566	94.64	gold quality
amygdala	UBERON:0001876	94.47	gold quality
cardiac atrium	UBERON:0002081	94.39	gold quality
caudate nucleus	UBERON:0001873	94.30	gold quality
heart left ventricle	UBERON:0002084	94.28	gold quality
cardiac ventricle	UBERON:0002082	94.08	gold quality
putamen	UBERON:0001874	94.04	gold quality
anterior cingulate cortex	UBERON:0009835	93.93	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.90	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.89	gold quality
myocardium	UBERON:0002349	93.72	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	63.36
E-GEOD-134144	yes	31.71
E-HCAD-1	yes	29.39
E-MTAB-10287	yes	26.20
E-ANND-3	yes	9.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting FAM229B, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-4312	99.34	67.30	511
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-4477B	99.23	70.49	1733

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam229b	ENSMUSG00000051736
rattus_norvegicus	Fam229b	ENSRNOG00000024918

Paralogs (1): FAM229A (ENSG00000225828)

Protein

Protein identifiers

Protein FAM229B — Q4G0N7 (reviewed: Q4G0N7)

All UniProt accessions (1): Q4G0N7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM229 family.

RefSeq proteins (1): NP_001028736* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028025	FAM229	Family

Pfam: PF14982

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4G0N7-F1	56.68	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MARSON_BOUND_BY_E2F4_UNSTIMULATED, DODD_NASOPHARYNGEAL_CARCINOMA_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, FOXJ2_TARGET_GENES, GUCY1B1_TARGET_GENES, KAT2A_TARGET_GENES, SNAI1_TARGET_GENES, TASOR_TARGET_GENES, UBN1_TARGET_GENES, ZNF30_TARGET_GENES, MIR30B_5P_MIR30C_5P, MIR30D_5P

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM229B	LRCOL1	A6NCL2	703
FAM229B	SPMIP4	Q8N865	614
FAM229B	NPIPB9	F8W1W9	571
FAM229B	TMEM60	Q9H2L4	569
FAM229B	MAGEE2	Q8TD90	543
FAM229B	SPATA24	Q86W54	533
FAM229B	OR2AK2	Q8NG84	522
FAM229B	FSCB	Q5H9T9	519
FAM229B	IQCF1	Q8N6M8	497
FAM229B	CABS1	Q96KC9	478
FAM229B	EDDM3B	P56851	476
FAM229B	LELP1	Q5T871	462
FAM229B	DCBLD1	Q8N8Z6	446
FAM229B	TMEM114	B3SHH9	436
FAM229B	SBSPON	Q8IVN8	433

IntAct

9 interactions, top by confidence:

A	B	Type	Score
FAM229B	TSSK1B	psi-mi:“MI:0915”(physical association)	0.670
FAM229B	TSSK2	psi-mi:“MI:0915”(physical association)	0.560
TSSK1B	AIP	psi-mi:“MI:0914”(association)	0.350
SCRIB	CHD2	psi-mi:“MI:0914”(association)	0.350
TSSK1B	FAM229B	psi-mi:“MI:0915”(physical association)	0.000
TSSK2	FAM229B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): TSSK2 (Two-hybrid), TSSK1B (Two-hybrid), FAM229B (Affinity Capture-MS)

ESM2 similar proteins: A0A023PXB0, A0LE50, A3M8Z1, A4VS83, A5LFY3, A8MQ11, A9CBA1, B0V5R1, B0VQP6, B1XKC8, B2HZX4, B7H341, B7IBI0, O29555, P03164, P03938, P05678, P08747, P21423, P23587, P38209, P40898, P41953, P53864, P65086, P75600, P75688, P87288, P89888, P92552, P92554, P93300, P9WKY2, P9WKY3, Q05102, Q08419, Q0D252, Q1IV77, Q1KXP9, Q3BAI2

Diamond homologs: A5LFY3, B0BND4, B2KGE5, H3BQW9, Q0D252, Q4G0N7, Q8CF36

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

553 predictions. Top by Δscore:

Variant	Effect	Δscore
6:112087195:G:C	donor_gain	1.0000
6:112087314:C:CT	acceptor_gain	1.0000
6:112087315:G:T	acceptor_gain	1.0000
6:112087408:AC:A	donor_gain	1.0000
6:112087409:CC:C	donor_gain	1.0000
6:112087170:T:TA	donor_gain	0.9900
6:112087228:GGTA:G	donor_loss	0.9900
6:112087229:GTAC:G	donor_loss	0.9900
6:112087253:C:CA	donor_gain	0.9900
6:112087403:AGCTT:A	donor_loss	0.9900
6:112087404:GCTT:G	donor_loss	0.9900
6:112087405:CTTA:C	donor_loss	0.9900
6:112087406:TTA:T	donor_loss	0.9900
6:112087407:T:TG	donor_loss	0.9900
6:112087408:A:AC	donor_gain	0.9900
6:112087408:ACCCT:A	donor_loss	0.9900
6:112087409:C:CC	donor_gain	0.9900
6:112087419:C:CT	donor_gain	0.9900
6:112087420:C:CT	donor_gain	0.9900
6:112087718:C:T	donor_gain	0.9900
6:112087718:CAG:C	donor_loss	0.9900
6:112087719:AG:A	donor_loss	0.9900
6:112087720:GG:G	donor_loss	0.9900
6:112087721:GTA:G	donor_loss	0.9900
6:112087722:T:A	donor_loss	0.9900
6:112099265:TCTA:T	acceptor_loss	0.9900
6:112099266:CTAG:C	acceptor_loss	0.9900
6:112099267:TAGG:T	acceptor_gain	0.9900
6:112099267:TAGGT:T	acceptor_loss	0.9900
6:112099268:A:AG	acceptor_gain	0.9900

AlphaMissense

516 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:112099317:T:C	F12L	0.856
6:112099319:T:A	F12L	0.856
6:112099319:T:G	F12L	0.856
6:112100708:T:A	I55K	0.809
6:112100723:T:A	V60D	0.799
6:112100729:T:A	V62D	0.796
6:112100708:T:C	I55T	0.792
6:112100683:T:C	C47R	0.790
6:112100683:T:A	C47S	0.770
6:112100684:G:C	C47S	0.770
6:112100708:T:G	I55R	0.757
6:112100700:C:G	C52W	0.721
6:112099318:T:C	F12S	0.703
6:112100685:C:G	C47W	0.703
6:112100698:T:C	C52R	0.675
6:112100717:T:A	V58D	0.668
6:112100723:T:G	V60G	0.627
6:112099318:T:G	F12C	0.623
6:112100698:T:A	C52S	0.605
6:112100699:G:C	C52S	0.605
6:112100682:G:C	R46S	0.600
6:112100682:G:T	R46S	0.600
6:112100684:G:A	C47Y	0.597
6:112100683:T:G	C47G	0.591
6:112100717:T:G	V58G	0.575

dbSNP variants (sampled 300 via entrez): RS1000085628 (6:112089430 T>G), RS1000288557 (6:112102831 A>G), RS1000385038 (6:112096056 A>T), RS1000735222 (6:112100930 A>C), RS1001127249 (6:112094371 A>T), RS1001385368 (6:112097282 A>G,T), RS1002275130 (6:112097543 A>C,T), RS1002621538 (6:112090668 C>T), RS1003107867 (6:112094346 C>T), RS1003119907 (6:112086937 T>C,G), RS1003225472 (6:112092275 A>G), RS1003286508 (6:112098837 T>C), RS1003339477 (6:112085818 C>T), RS1003852681 (6:112092479 T>C,G), RS1003957440 (6:112101996 A>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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Glyphosate	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression, increases abundance	1
Diethylstilbestrol	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Malathion	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases abundance, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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