FAM236A

Summary

FAM236A (family with sequence similarity 236 member A, HGNC:44268) is a protein-coding gene on chromosome Xq13.1, encoding Protein FAM236A (A0A1B0GUQ0).

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001348070

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44268
Approved symbol	FAM236A
Name	family with sequence similarity 236 member A
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000275520
Ensembl biotype	protein_coding
Entrez	100129407

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000593662, ENST00000611003

RefSeq mRNA: 2 — MANE Select: NM_001348070 NM_001348070, NM_001348071

CCDS: CCDS87765, CCDS87766

Canonical transcript exons

ENST00000611003 — 3 exons

Exon	Start	End
ENSE00003120104	72938206	72938298
ENSE00003746056	72938476	72938651
ENSE00003901175	72938806	72938958

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 98.55.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	98.55	gold quality
left testis	UBERON:0004533	98.27	gold quality
testis	UBERON:0000473	97.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.41	gold quality
right uterine tube	UBERON:0001302	63.23	gold quality
mucosa of stomach	UBERON:0001199	57.59	gold quality
superior frontal gyrus	UBERON:0002661	56.73	gold quality
lymph node	UBERON:0000029	56.49	gold quality
rectum	UBERON:0001052	51.55	gold quality
body of pancreas	UBERON:0001150	51.49	gold quality
ectocervix	UBERON:0012249	50.24	gold quality
gall bladder	UBERON:0002110	49.78	gold quality
vermiform appendix	UBERON:0001154	49.65	gold quality
pancreas	UBERON:0001264	49.53	gold quality
uterine cervix	UBERON:0000002	49.20	gold quality
Ammon’s horn	UBERON:0001954	48.65	gold quality
temporal lobe	UBERON:0001871	48.41	gold quality
amygdala	UBERON:0001876	48.17	gold quality
mucosa of transverse colon	UBERON:0004991	48.09	gold quality
endocervix	UBERON:0000458	47.61	gold quality
right coronary artery	UBERON:0001625	47.22	gold quality
islet of Langerhans	UBERON:0000006	45.43	gold quality
lower esophagus mucosa	UBERON:0035834	45.08	silver quality
body of stomach	UBERON:0001161	44.59	gold quality
anterior cingulate cortex	UBERON:0009835	44.43	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	44.04	gold quality
bone marrow cell	CL:0002092	43.88	gold quality
transverse colon	UBERON:0001157	43.84	gold quality
lower esophagus	UBERON:0013473	43.64	gold quality
lower esophagus muscularis layer	UBERON:0035833	43.46	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	943.12
E-GEOD-134144	yes	34.32
E-ANND-3	no	0.25

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam236e	ENSMUSG00000079476
mus_musculus	Fam236f	ENSMUSG00000079479
rattus_norvegicus		ENSRNOG00000064026
rattus_norvegicus		ENSRNOG00000065493
rattus_norvegicus	Fam236d	ENSRNOG00000069062

Paralogs (3): FAM236D (ENSG00000225396), FAM236B (ENSG00000268994), FAM236C (ENSG00000283594)

Protein

Protein identifiers

Protein FAM236A — A0A1B0GUQ0 (reviewed: A0A1B0GUQ0)

All UniProt accessions (2): A0A1B0GUQ0, A0A1X7SCG6

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM236 family.

RefSeq proteins (2): NP_001334999, NP_001335000 (=MANE)

Domains & families (InterPro)

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUQ0-F1	63.02	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): chrXq13, GSE11057_EFF_MEM_VS_CENT_MEM_CD4_TCELL_DN, GSE16755_CTRL_VS_IFNA_TREATED_MAC_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_6H_ACT_CD4_TCELL_UP, GSE26928_EFF_MEM_VS_CENTR_MEM_CD4_TCELL_UP, GSE2770_TGFB_AND_IL4_VS_IL12_TREATED_ACT_CD4_TCELL_2H_UP, GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_2H_UP, GSE16385_IFNG_TNF_VS_ROSIGLITAZONE_STIM_MACROPHAGE_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GUQ0, A0A1B0GV22, A4WGH3, A5WBB8, A8A6G6, B1IX34, B1X9T3, B5BIL7, B5QUQ3, B5RFY4, B7L848, B7LK47, B7M557, B7MGC6, B7N2F0, B7NF22, B7NR07, B8MYS5, C0Q2L2, C4ZYY2, O71190, O83770, P03167, P03168, P05443, P0A8C8, P0A8C9, P0C304, P0C305, P12173, P12478, P20464, P53231, P61468, P61472, Q16612, Q1R4N0, Q31UV8, Q329B3, Q3SSW2

Diamond homologs: A0A1B0GTK5, A0A1B0GUQ0, A0A1B0GV22, P0DP71

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:72938269:T:C	F3L	0.929
X:72938271:C:A	F3L	0.929
X:72938271:C:G	F3L	0.929
X:72938278:T:C	F6L	0.918
X:72938280:C:A	F6L	0.918
X:72938280:C:G	F6L	0.918
X:72938647:T:C	F70L	0.900
X:72938649:C:A	F70L	0.900
X:72938649:C:G	F70L	0.900
X:72938635:T:C	F66L	0.806
X:72938637:C:A	F66L	0.806
X:72938637:C:G	F66L	0.806
X:72938614:T:C	F59L	0.787
X:72938616:C:A	F59L	0.787
X:72938616:C:G	F59L	0.787
X:72938604:G:C	W55C	0.763
X:72938604:G:T	W55C	0.763
X:72938648:T:C	F70S	0.733
X:72938636:T:C	F66S	0.717
X:72938615:T:C	F59S	0.713
X:72938267:T:C	I2T	0.692
X:72938619:G:C	Q60H	0.677
X:72938619:G:T	Q60H	0.677
X:72938643:G:C	K68N	0.670
X:72938643:G:T	K68N	0.670
X:72938270:T:G	F3C	0.659
X:72938270:T:C	F3S	0.655
X:72938607:G:C	R56S	0.651
X:72938607:G:T	R56S	0.651
X:72938267:T:G	I2S	0.611

dbSNP variants (sampled 96 via entrez): RS1161542420 (X:72939413 C>T), RS1315018357 (X:72939246 G>A), RS1318547599 (X:72939361 T>C), RS1346070811 (X:72939409 C>T), RS1453337402 (X:72939367 G>GC), RS1453968509 (X:72939293 G>A), RS1556357806 (X:72936309 C>T), RS1556357808 (X:72936624 T>C), RS1556357809 (X:72937300 A>G), RS1556357810 (X:72937739 C>T), RS1556357813 (X:72937835 A>G), RS1556357814 (X:72938066 A>T), RS1556357815 (X:72938333 C>T), RS1556357819 (X:72938371 C>T), RS1556357821 (X:72938413 T>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

1 associations (top):

Study	Trait	p-value
GCST008103_139	Bipolar disorder	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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