Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54497
Gene name	HEAT repeat containing 5B
Gene symbol	HEATR5B
Synonyms (NCBI Gene)	p200p200a
Chromosome	2
Chromosome location	2p22.2

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017793	hsa-miR-335-5p	Microarray	18185580
MIRT021676	hsa-miR-140-3p	Sequencing	20371350
MIRT1043273	hsa-miR-144	CLIP-seq
MIRT1043274	hsa-miR-331-3p	CLIP-seq
MIRT1043275	hsa-miR-3650	CLIP-seq
MIRT1043276	hsa-miR-3660	CLIP-seq
MIRT1043277	hsa-miR-3679-3p	CLIP-seq
MIRT1043278	hsa-miR-369-3p	CLIP-seq
MIRT1043279	hsa-miR-374a	CLIP-seq
MIRT1043280	hsa-miR-374b	CLIP-seq
MIRT1043281	hsa-miR-4446-5p	CLIP-seq
MIRT1043282	hsa-miR-4526	CLIP-seq
MIRT1043283	hsa-miR-4645-3p	CLIP-seq
MIRT1043284	hsa-miR-4732-3p	CLIP-seq
MIRT1043285	hsa-miR-671-5p	CLIP-seq
MIRT1043286	hsa-miR-890	CLIP-seq
MIRT1043273	hsa-miR-144	CLIP-seq
MIRT1043274	hsa-miR-331-3p	CLIP-seq
MIRT1043276	hsa-miR-3660	CLIP-seq
MIRT1043277	hsa-miR-3679-3p	CLIP-seq
MIRT1043281	hsa-miR-4446-5p	CLIP-seq
MIRT1043282	hsa-miR-4526	CLIP-seq
MIRT1043283	hsa-miR-4645-3p	CLIP-seq
MIRT1043284	hsa-miR-4732-3p	CLIP-seq
MIRT1043278	hsa-miR-369-3p	CLIP-seq
MIRT1043279	hsa-miR-374a	CLIP-seq
MIRT1043280	hsa-miR-374b	CLIP-seq
MIRT1043285	hsa-miR-671-5p	CLIP-seq
MIRT1043286	hsa-miR-890	CLIP-seq
MIRT2545267	hsa-miR-1179	CLIP-seq
MIRT2545268	hsa-miR-135a	CLIP-seq
MIRT2545269	hsa-miR-135b	CLIP-seq
MIRT1043273	hsa-miR-144	CLIP-seq
MIRT2545270	hsa-miR-208a	CLIP-seq
MIRT2545271	hsa-miR-208b	CLIP-seq
MIRT2545272	hsa-miR-24	CLIP-seq
MIRT2545273	hsa-miR-3658	CLIP-seq
MIRT2545274	hsa-miR-3929	CLIP-seq
MIRT2545275	hsa-miR-4284	CLIP-seq
MIRT2545276	hsa-miR-4302	CLIP-seq
MIRT2545277	hsa-miR-4311	CLIP-seq
MIRT2545278	hsa-miR-4419b	CLIP-seq
MIRT2545279	hsa-miR-4432	CLIP-seq
MIRT2545280	hsa-miR-4478	CLIP-seq
MIRT1043283	hsa-miR-4645-3p	CLIP-seq
MIRT2545281	hsa-miR-4666-3p	CLIP-seq
MIRT2545282	hsa-miR-495	CLIP-seq
MIRT2545283	hsa-miR-499-5p	CLIP-seq
MIRT2545284	hsa-miR-513a-3p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	30126976
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006897	Process	Endocytosis	IBA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030139	Component	Endocytic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

MIM	HGNC	e!Ensembl
619627	29273	ENSG00000008869

Q9P2D3

Protein name

HEAT repeat-containing protein 5B

Protein function

Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endos

Family and domains

Sequence

MELAHSLLLNEEALAQITEAKRPVFIFEWLRFLDKVLVAANKTDVKEKQKKLVEQLTGLI
SSSPGPPTRKLLAKNLAALYSIGDTFTVFQTLDKCNDIIRNKDDTAAYLPTKLAAVACVG
AFYEKMGRMLGSAFPETVNNLLKSLKSAESQGRSEILMSLQKVLSGLGGAAASSHRDIYK
NARSLLTDRSMAVRCAVAKCLLELQNEAVFMWTAELENIATLCFKALENSNYGVRVAVSK
LLGTVMATALMPKQATVMRQNVKRATFDEVLELMATGFLRGGSGFLKSGGEMLKVGGSVN
REVRVGVTQAYVVFVTTLGGQWLERSFATFLSHVLDLVSHPRATQTHVEAVYSRRCVSFI
LRATVGSLLGEKAQIAAAKEICQAIGKQMKAVEAVVNDTSGENKSGAADIAASQHVMVCA
LQELGSLVQSLNATASPLIQEASIGLLEIVTSVLLHPSMAARLAAAWCLRCVAVALPFQL
TPFLDRCAERLNNLKTSPEAVSGYSFAMAALLGGVHQCPLGIPHAKGKMVVSIAEDLLRT
AAQNSRLSLQRTQAGWLLLGALMTLGPSVVRYHLPKMLLLWRNVFPRSLKELEAEKARGD
SFTWQVTLEGRAGALCAMRSFVAHCPELLTEDVIRKLMTPIECAMTMMSHIPSVMKAHGA
HLKASAAMVRLRLYDILALLPPKTYEGSFNALLRELVAEFTLTDNSANTTTSLLRSLCHY
DDSVLLGSWLQETDHKSIEDQLQPNSASGSGALEHDPSSIYLRIPAGEAVPGPLPLGVSV
IDASVALFGVVFPHVSYKHRLQMLDHFAECVKQAKGVRQQAVQLNIFTAVLSALKGLAEN
KSTLGPEEVRKSALTLVMGPLDNPNPILRCAAGEALGRMAQVVGEATFIARMAQYSFDKL
KSARDVVSRTGHSLALGCLHRYVGGIGSGQHLKTSVSILLALAQDGTSPEVQTWSLHSLA
LIVDSSGPMYRGYVEPTLSLVLTLLLTVPPSHTEVHQCLGRCLGAIITTVGPELQGNGAT
TSTIRSSCLVGCAITQDHSDSLVQAAAISCLQQLHMFAPRHVNLSSLVPSLCVHLCSSHL
LLRRAAVACLRQLAQREAAEVCEYAMSLAKNTGDKESSSANVSPFAPGVSSRTDIHCRHQ
GVNITETGLEGLLFGMLDRETDRKLCSDIHDTLGHMLSSLAVEKLSHWLMLCKDVLAASS
DMSTATLLSSGKDEEAEKKDEMDDDTMFTTLGEEDKSKPFVAPRWATRVFAADCLCRIIN
LCENADQAHFDLALARSAKLRNPTNDLLVLHLSDLIRMAFMAATDHSNQLRMAGLQALED
IIKKFASVPEPEFPGHVILEQYQANVGAALRPAFSQDTPSDIIAKACQVCSTWIGSGVVS
DLNDLRRVHNLLVSSLDKVQAGKGSSSQLYRESATTMEKLAVLKAWAEVYVVAMNIKKEA
ESKPKRAIKNTDDDDDDCGTIDELPPDSLITLVQPELPTLSRLWLAALKDYALLTLPAEF
SSQLPPDGGAFYTPETIDTARLHYRNSWAPILHAVALWLNSTGFTCSESTEAAAISGLQK
RSTSVNLNQASGAVGSAKSLPEINKDRMHLILGVSIQFLCSPRPEEPIEHVTACLQALHT
LLDSPYARVHIAEDQLIGVELLSVLHRLLLTWNPSSVQLLVTGVVQQIVRAAQDYLQEKR
NTLNEDDMEKEACTVLGEGGDSGGLIPGKSLVFATMELLMFILVRHMPHLSTKVSDSPSH
IATKTRLSEESARLVAATVTILSDLPSLCSPAGCMTILPTILFLIARILKDTAIKSADNQ
VPPPVSAALQGIKSIVTLSMAKTEAGVQKQWTALIRSTLACILEYSQPEDSVPTPDEVSM
LTAIALFLWSASNEIIGVQSLQNGCMNRFKNALNSCDPWVQAKCYQLLLSVFQHSNRALS
TPYIHSLAPIVVEKLKAVERNRPASNIELLAVQEGIKVLETLVALGEEQNRVQLLALLVP
TLISYLLDENSFASASSASKDLHEFALQNLMHIGPLYPHAFKTVMGAAPELKVRLETAVR
ASQASKAKAAARQPAPAIHSAPTIKLKTSFF

Sequence length

2071

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital pontocerebellar hypoplasia	Likely pathogenic	rs1667163007, rs1667224478	RCV001849498 RCV001849499	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEATR5B-associated Pontocerebellar hypoplasia	Likely pathogenic	rs1667163007, rs1667224478	RCV001281665 RCV001281666	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurological syndrome with pontocerebellar hypoplasia	Likely pathogenic	rs369632588	RCV003123346	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cerebellar atrophy with seizures and variable developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HEATR5B (HEAT repeat containing 5B)