FAM236B

Summary

FAM236B (family with sequence similarity 236 member B, HGNC:52640) is a protein-coding gene on chromosome Xq13.1, encoding Protein FAM236B (A0A1B0GV22).

At a glance

• MANE Select transcript: NM_001348072

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52640
Approved symbol	FAM236B
Name	family with sequence similarity 236 member B
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000268994
Ensembl biotype	protein_coding
Entrez	100132304

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000596535

RefSeq mRNA: 2 — MANE Select: NM_001348072 NM_001348072, NM_001348073

CCDS: CCDS87760

Canonical transcript exons

ENST00000596535 — 3 exons

Exon	Start	End
ENSE00003074633	72782172	72782347
ENSE00003734862	72781865	72782017
ENSE00003735322	72782525	72782660

Expression profiles

Bgee: expression breadth broad, 97 present calls, max score 97.61.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.61	gold quality
right testis	UBERON:0004534	95.57	gold quality
left testis	UBERON:0004533	95.04	gold quality
testis	UBERON:0000473	93.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	70.50	gold quality
cerebellar hemisphere	UBERON:0002245	68.66	gold quality
cerebellar cortex	UBERON:0002129	67.57	gold quality
cerebellum	UBERON:0002037	67.03	gold quality
adenohypophysis	UBERON:0002196	65.97	gold quality
pituitary gland	UBERON:0000007	65.22	gold quality
thyroid gland	UBERON:0002046	60.33	gold quality
left lobe of thyroid gland	UBERON:0001120	60.05	gold quality
right lobe of thyroid gland	UBERON:0001119	57.87	gold quality
left ovary	UBERON:0002119	57.76	gold quality
ovary	UBERON:0000992	53.27	gold quality
body of pancreas	UBERON:0001150	51.90	gold quality
right ovary	UBERON:0002118	49.02	gold quality
spleen	UBERON:0002106	48.82	gold quality
prostate gland	UBERON:0002367	48.68	gold quality
right frontal lobe	UBERON:0002810	47.02	gold quality
small intestine Peyer’s patch	UBERON:0003454	45.46	gold quality
minor salivary gland	UBERON:0001830	43.16	gold quality
small intestine	UBERON:0002108	43.00	gold quality
pancreas	UBERON:0001264	42.84	gold quality
brain	UBERON:0000955	42.11	gold quality
saliva-secreting gland	UBERON:0001044	41.91	gold quality
body of uterus	UBERON:0009853	41.70	gold quality
metanephros cortex	UBERON:0010533	39.92	gold quality
fundus of stomach	UBERON:0001160	39.11	gold quality
nucleus accumbens	UBERON:0001882	38.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.11

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), FAM236A (ENSG00000275520), FAM236C (ENSG00000283594)

Protein

Protein identifiers

Protein FAM236B — A0A1B0GV22 (reviewed: A0A1B0GV22)

All UniProt accessions (1): A0A1B0GV22

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM236 family.

RefSeq proteins (2): NP_001335001, NP_001335002 (=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-A0A1B0GV22-F1	63.56	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chrXq13

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

22 predictions. Top by Δscore:

Variant	Effect	Δscore
X:72782642:TGCA:T	donor_gain	0.7400
X:72782530:C:A	donor_gain	0.4900
X:72782424:TGGCC:T	acceptor_gain	0.4200
X:72782529:TCAGC:T	donor_gain	0.4000
X:72782643:GCAA:G	donor_gain	0.4000
X:72782537:TGG:T	donor_gain	0.3600
X:72782027:A:T	donor_gain	0.3300
X:72781986:G:GA	donor_gain	0.3200
X:72782312:G:T	donor_gain	0.3200
X:72782425:GGCCC:G	acceptor_gain	0.3200
X:72782313:T:TA	donor_gain	0.2900
X:72782102:G:GT	donor_gain	0.2800
X:72782543:G:GT	donor_gain	0.2800
X:72782252:C:T	donor_gain	0.2500
X:72782547:G:GT	donor_gain	0.2500
X:72782436:AGG:A	acceptor_gain	0.2300
X:72782437:GGG:G	acceptor_gain	0.2300
X:72782484:CTAGG:C	acceptor_gain	0.2300
X:72782511:G:T	donor_gain	0.2200
X:72781985:T:TA	donor_gain	0.2100
X:72782405:C:CT	acceptor_gain	0.2100
X:72782410:G:GA	acceptor_gain	0.2000

AlphaMissense

501 scored. Top likely-pathogenic:

dbSNP variants (sampled 57 via entrez): RS113312796 (X:72781462 A>G), RS1556345439 (X:72781483 T>A), RS1556345441 (X:72781729 C>T), RS1556345444 (X:72781815 T>C), RS1556345446 (X:72781918 C>T), RS1556345448 (X:72782007 G>A), RS1556345450 (X:72782236 G>A), RS1556345452 (X:72782410 A>G), RS1556345455 (X:72782490 G>A), RS1556345457 (X:72782757 T>A), RS1556345464 (X:72783523 T>C), RS1556345470 (X:72784200 G>GCCC), RS1556345473 (X:72784423 A>G), RS1556345474 (X:72784473 C>CAGGG), RS1556345476 (X:72784484 C>T)

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)

Clinical trials (associated diseases)

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