MRFAP1L2

Summary

MRFAP1L2 (Morf4 family associated protein 1 like 2, HGNC:25109) is a protein-coding gene on chromosome 4p16.1, encoding MORF4 family associated protein 1 like 2 (B2RBV5). May play a role in cell proliferation.

Involved in regulation of cell cycle.

Source: NCBI Gene 93622 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_138699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25109
Approved symbol	MRFAP1L2
Name	Morf4 family associated protein 1 like 2
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170846
Ensembl biotype	protein_coding
Entrez	93622

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 nonsense_mediated_decay, 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000307533, ENST00000444232, ENST00000635031, ENST00000645429

RefSeq mRNA: 1 — MANE Select: NM_138699 NM_138699

Canonical transcript exons

ENST00000635031 — 1 exons

Exon	Start	End
ENSE00003784077	6674075	6676047

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 95.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	95.20	gold quality
nucleus accumbens	UBERON:0001882	90.64	gold quality
amygdala	UBERON:0001876	90.03	gold quality
hypothalamus	UBERON:0001898	89.96	gold quality
amniotic fluid	UBERON:0000173	89.74	gold quality
upper arm skin	UBERON:0004263	89.38	gold quality
prefrontal cortex	UBERON:0000451	89.25	gold quality
medial globus pallidus	UBERON:0002477	89.22	gold quality
putamen	UBERON:0001874	89.07	gold quality
superior vestibular nucleus	UBERON:0007227	89.07	gold quality
anterior cingulate cortex	UBERON:0009835	89.05	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.94	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.84	gold quality
temporal lobe	UBERON:0001871	88.80	gold quality
cortical plate	UBERON:0005343	88.72	gold quality
Ammon’s horn	UBERON:0001954	88.47	gold quality
forebrain	UBERON:0001890	88.45	gold quality
caudate nucleus	UBERON:0001873	88.38	gold quality
frontal cortex	UBERON:0001870	88.26	gold quality
cerebral cortex	UBERON:0000956	88.24	gold quality
neocortex	UBERON:0001950	88.22	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.22	gold quality
adenohypophysis	UBERON:0002196	88.17	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.14	gold quality
globus pallidus	UBERON:0001875	88.13	gold quality
substantia nigra pars compacta	UBERON:0001965	87.85	gold quality
brain	UBERON:0000955	87.69	gold quality
middle temporal gyrus	UBERON:0002771	87.69	gold quality
tendon of biceps brachii	UBERON:0008188	87.64	gold quality
palpebral conjunctiva	UBERON:0001812	87.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.73

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mrfap1	ENSMUSG00000055302

Paralogs (2): MRFAP1L1 (ENSG00000178988), MRFAP1 (ENSG00000179010)

Protein

Protein identifiers

MORF4 family associated protein 1 like 2 — B2RBV5 (reviewed: B2RBV5)

Alternative names: MORF4 family-associated protein 1-like protein UPP, Unnamed protein product

All UniProt accessions (1): B2RBV5

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in cell proliferation.

Subunit / interactions. May interact with CDK2AP1.

Similarity. Belongs to the MORF4 family-associated protein family.

RefSeq proteins (1): NP_619644* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029254	MRFAP1	Family

Pfam: PF15155

UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B2RBV5-F1	83.91	0.60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 31 (showing top): CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, GOBP_REGULATION_OF_CELL_CYCLE, chr4p16, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, BASAKI_YBX1_TARGETS_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, LU_EZH2_TARGETS_UP, CREB3L4_TARGET_GENES, FOXG1_TARGET_GENES, HOXB6_TARGET_GENES, HOXC6_TARGET_GENES, HSD17B8_TARGET_GENES, NPAT_TARGET_GENES, TASOR_TARGET_GENES, ZFHX3_TARGET_GENES

GO Biological Process (1): regulation of cell cycle (GO:0051726)

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
cell cycle	1
regulation of cellular process	1
binding	1

Protein interactions and networks

STRING

30 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRFAP1L2	IGSF3	O75054	399
MRFAP1L2	FRG1	Q14331	395
MRFAP1L2	REX1BD	Q96EN9	322
MRFAP1L2	ZNF517	Q6ZMY9	322
MRFAP1L2	DYNC1I2	Q13409	290
MRFAP1L2	CBARP	Q8N350	259
MRFAP1L2	FOXI2	Q6ZQN5	237
MRFAP1L2	NOL4L	Q96MY1	221
MRFAP1L2	PIMREG	Q9BSJ6	199
MRFAP1L2	PTH2R	P49190	185
MRFAP1L2	RBMS3	Q6XE24	184
MRFAP1L2	NPEPPS	P55786	176
MRFAP1L2	CROCC	Q5TZA2	167
MRFAP1L2	DTX3L	Q8TDB6	159
MRFAP1L2	BCL9L	Q86UU0	154

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A286YF18, A1WUG8, A7SPE8, A9HKY5, B2RBV5, B3QB33, B5EN39, B5FZ42, B6IXL9, B7J583, B8H618, P03262, P05930, P0C267, P0C745, P0C746, P0C747, P27114, P30661, P58066, P89437, P89459, P89470, P92535, Q1AVZ4, Q1D9P3, Q1IZX1, Q1J1S9, Q3U6N9, Q3ZC61, Q3ZCQ0, Q53562, Q5KZP0, Q5M820, Q66639, Q66667, Q6N103, Q6UDH8, Q6X7S9, Q81842

Diamond homologs: B2RBV5, Q3ZC61, Q5M820, Q5RC01, Q96HT8, Q9CQL7, Q9Y605

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 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

749 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:6674497:G:C	K95N	0.951
4:6674497:G:T	K95N	0.951
4:6674519:G:C	G103R	0.950
4:6674367:T:C	I52T	0.929
4:6674529:T:G	I106S	0.927
4:6674388:T:A	I59N	0.924
4:6674384:G:C	A58P	0.920
4:6674498:G:C	A96P	0.917
4:6674520:G:A	G103D	0.917
4:6674388:T:C	I59T	0.914
4:6674507:G:C	A99P	0.906
4:6674388:T:G	I59S	0.904
4:6674519:G:T	G103C	0.898
4:6674367:T:G	I52S	0.896
4:6674358:T:C	L49P	0.885
4:6674529:T:A	I106N	0.883
4:6674486:G:C	A92P	0.880
4:6674510:G:C	A100P	0.877
4:6674356:G:C	K48N	0.869
4:6674356:G:T	K48N	0.869
4:6674529:T:C	I106T	0.869
4:6674520:G:T	G103V	0.849
4:6674376:T:C	L55P	0.846
4:6674538:T:C	L109P	0.845
4:6674349:G:C	R46P	0.841
4:6674379:T:A	L56H	0.839
4:6674364:A:T	E51V	0.827
4:6674526:G:C	R105P	0.827
4:6674499:C:A	A96D	0.824
4:6674540:C:G	H110D	0.824

dbSNP variants (sampled 300 via entrez): RS1000677644 (4:6673542 C>T), RS1001115087 (4:6673890 A>G,T), RS1001174178 (4:6673058 C>G), RS1001347193 (4:6672447 G>C), RS1001408613 (4:6675861 G>A), RS1001893532 (4:6676370 T>C), RS1002406137 (4:6673231 A>G), RS1002476980 (4:6676485 C>G), RS1002846168 (4:6673678 A>C,G), RS1003335634 (4:6674324 C>G), RS1003356807 (4:6673706 C>T), RS1003816672 (4:6673835 A>C,T), RS1004307164 (4:6673864 C>T), RS1004358496 (4:6674330 C>A,G,T), RS1004412361 (4:6674443 G>A)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1

Clinical trials (associated diseases)

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