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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	79870
Gene name	BAALC binder of MAP3K1 and KLF4
Gene symbol	BAALC
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8q22.3
Summary	This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternative

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miRTarBase ID	miRNA	Experiments
MIRT814085	hsa-miR-1197	CLIP-seq
MIRT814086	hsa-miR-1252	CLIP-seq
MIRT814087	hsa-miR-1825	CLIP-seq
MIRT814088	hsa-miR-1976	CLIP-seq
MIRT814089	hsa-miR-199a-5p	CLIP-seq
MIRT814090	hsa-miR-199b-5p	CLIP-seq
MIRT814091	hsa-miR-2467-3p	CLIP-seq
MIRT814092	hsa-miR-3065-5p	CLIP-seq
MIRT814093	hsa-miR-3163	CLIP-seq
MIRT814094	hsa-miR-365	CLIP-seq
MIRT814095	hsa-miR-3678-3p	CLIP-seq
MIRT814096	hsa-miR-370	CLIP-seq
MIRT814097	hsa-miR-371-3p	CLIP-seq
MIRT814098	hsa-miR-4269	CLIP-seq
MIRT814099	hsa-miR-4283	CLIP-seq
MIRT814100	hsa-miR-4427	CLIP-seq
MIRT814101	hsa-miR-4488	CLIP-seq
MIRT814102	hsa-miR-4514	CLIP-seq
MIRT814103	hsa-miR-4663	CLIP-seq
MIRT814104	hsa-miR-4692	CLIP-seq
MIRT814105	hsa-miR-4697-5p	CLIP-seq
MIRT814106	hsa-miR-4742-5p	CLIP-seq
MIRT814107	hsa-miR-548n	CLIP-seq
MIRT814108	hsa-miR-548t	CLIP-seq
MIRT814109	hsa-miR-561	CLIP-seq
MIRT814110	hsa-miR-587	CLIP-seq
MIRT814111	hsa-miR-637	CLIP-seq
MIRT1940708	hsa-miR-1237	CLIP-seq
MIRT1940709	hsa-miR-3185	CLIP-seq
MIRT1940710	hsa-miR-3617	CLIP-seq
MIRT1940711	hsa-miR-562	CLIP-seq
MIRT1940712	hsa-miR-641	CLIP-seq
MIRT2179710	hsa-miR-3120-5p	CLIP-seq
MIRT1940710	hsa-miR-3617	CLIP-seq
MIRT2179711	hsa-miR-4521	CLIP-seq
MIRT1940712	hsa-miR-641	CLIP-seq
MIRT2384713	hsa-miR-513a-5p	CLIP-seq
MIRT2384714	hsa-miR-586	CLIP-seq
MIRT2483081	hsa-miR-1243	CLIP-seq
MIRT2483082	hsa-miR-150	CLIP-seq
MIRT2483083	hsa-miR-3064-3p	CLIP-seq
MIRT2483084	hsa-miR-3117-5p	CLIP-seq
MIRT2179710	hsa-miR-3120-5p	CLIP-seq
MIRT2483085	hsa-miR-3153	CLIP-seq
MIRT2483086	hsa-miR-3173-3p	CLIP-seq
MIRT1940709	hsa-miR-3185	CLIP-seq
MIRT2483087	hsa-miR-326	CLIP-seq
MIRT2483088	hsa-miR-330-5p	CLIP-seq
MIRT2483089	hsa-miR-34a	CLIP-seq
MIRT2483090	hsa-miR-34c-5p	CLIP-seq
MIRT1940710	hsa-miR-3617	CLIP-seq
MIRT2483091	hsa-miR-3940-5p	CLIP-seq
MIRT2483092	hsa-miR-3976	CLIP-seq
MIRT2483093	hsa-miR-3978	CLIP-seq
MIRT2483094	hsa-miR-4255	CLIP-seq
MIRT2483095	hsa-miR-4261	CLIP-seq
MIRT2483096	hsa-miR-4287	CLIP-seq
MIRT2483097	hsa-miR-4428	CLIP-seq
MIRT2483098	hsa-miR-4454	CLIP-seq
MIRT2483099	hsa-miR-4469	CLIP-seq
MIRT2483100	hsa-miR-4471	CLIP-seq
MIRT2483101	hsa-miR-4496	CLIP-seq
MIRT2483102	hsa-miR-449a	CLIP-seq
MIRT2483103	hsa-miR-449b	CLIP-seq
MIRT2483104	hsa-miR-4507	CLIP-seq
MIRT2179711	hsa-miR-4521	CLIP-seq
MIRT2483105	hsa-miR-4524	CLIP-seq
MIRT2483106	hsa-miR-4659a-5p	CLIP-seq
MIRT2483107	hsa-miR-4659b-5p	CLIP-seq
MIRT2483108	hsa-miR-4668-5p	CLIP-seq
MIRT2483109	hsa-miR-4685-3p	CLIP-seq
MIRT2483110	hsa-miR-4709-3p	CLIP-seq
MIRT2483111	hsa-miR-4738-3p	CLIP-seq
MIRT2483112	hsa-miR-4782-5p	CLIP-seq
MIRT2483113	hsa-miR-4797-5p	CLIP-seq
MIRT2483114	hsa-miR-581	CLIP-seq
MIRT2483115	hsa-miR-593	CLIP-seq
MIRT1940712	hsa-miR-641	CLIP-seq
MIRT2483116	hsa-miR-642a	CLIP-seq
MIRT2483117	hsa-miR-7	CLIP-seq
MIRT2483118	hsa-miR-875-3p	CLIP-seq
MIRT2483082	hsa-miR-150	CLIP-seq
MIRT2483083	hsa-miR-3064-3p	CLIP-seq
MIRT2483087	hsa-miR-326	CLIP-seq
MIRT2483088	hsa-miR-330-5p	CLIP-seq
MIRT2483089	hsa-miR-34a	CLIP-seq
MIRT2483090	hsa-miR-34c-5p	CLIP-seq
MIRT1940710	hsa-miR-3617	CLIP-seq
MIRT2483096	hsa-miR-4287	CLIP-seq
MIRT2483099	hsa-miR-4469	CLIP-seq
MIRT2483102	hsa-miR-449a	CLIP-seq
MIRT2483103	hsa-miR-449b	CLIP-seq
MIRT2483106	hsa-miR-4659a-5p	CLIP-seq
MIRT2483107	hsa-miR-4659b-5p	CLIP-seq
MIRT2483109	hsa-miR-4685-3p	CLIP-seq
MIRT2483112	hsa-miR-4782-5p	CLIP-seq
MIRT2483115	hsa-miR-593	CLIP-seq
MIRT1940712	hsa-miR-641	CLIP-seq
MIRT2483116	hsa-miR-642a	CLIP-seq
MIRT2483117	hsa-miR-7	CLIP-seq

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Transcription factor	Regulation	Reference
RUNX1	Activation	22493267

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11707601
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA

MIM	HGNC	e!Ensembl
606602	14333	ENSG00000164929

Q8WXS3

Protein name

Brain and acute leukemia cytoplasmic protein

Protein function

May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06989	BAALC_N	1 → 50	BAALC N-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in neuroectoderm-derived tissues. Expressed in the brain and spinal cord, and at low levels, in the adrenal gland. In the bone marrow, confined to the CD34+ progenitor cells. Not found in peripheral blood mononu

Sequence

MGCGGSRADAIEPRYYESWTRETESTWLTYTDSDAPPSAAAPDSGPEAGGLHSGMLEDGL
PSNGVPRSTAPGGIPNPEKKTNCETQCPNPQSLSSGPLTQKQNGLQTTEAKRDAKRMPAK
EVTINVTDSIQQMDRSRRITKNCVN

Sequence length

145

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 Unknown Diseases (4)

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.
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	11707601, 12750167, 16418499, 17646667, 20376583, 20535151, 21426945, 23412561, 27372260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17646667, 20065290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22072540, 23760853, 24855032, 26430723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23287429, 29296827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	23412561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29698419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	19943049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	18378853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29698419		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27372260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	19943049, 20495894, 21967978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29698419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29698419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	27140599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	22493267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22493267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22493267	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22493267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12750167, 14585369, 20065290, 33453340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21040219, 22197554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	22493267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12750167, 14585369, 18378853, 20026798, 20841507, 21596848, 21967978, 22493267, 22529287, 23760853, 23937207, 24326683, 24867525, 28830460, 32811810, 32862286, 33453340, 33894142 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12750167, 15604894, 15746041, 16418499, 16652140, 17646667, 19943049, 20376583, 20425451, 20495894, 20535151, 21942328, 21967978, 22072540, 22197554 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	15749074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	19822134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	17646667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29698419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12750167, 16275934, 20841507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29698419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22493267	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	26012361		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22488406, 26012361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	20376583, 21942328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	33894142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23937207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	20065290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	17646667, 20065290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20065290, 20535151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32811810	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BAALC (BAALC binder of MAP3K1 and KLF4)